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 YIF1A 10897 broad.mit.edu 37 11 66055104 66055104 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:66055104C>T ENST00000376901.4 - 4 576 c.392G>A c.(391-393)cGg>cAg p.R131Q YIF1A_ENST00000359461.6_Missense_Mutation_p.R131Q|YIF1A_ENST00000471387.2_5'UTR NM_020470.2 NP_065203.2 O95070 YIF1A_HUMAN Yip1 interacting factor homolog A (S. cerevisiae) 131 protein transport|vesicle-mediated transport centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane p.R131L(1) endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 9 GAGGTCTTGCCGGGGGGGCAG 0.622000 7 18 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28436193 28436193 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:28436193G>A ENST00000261609.7 - 55 8675 c.8567C>T c.(8566-8568)tCc>tTc p.S2856F NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2856 DOC. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GTTATTCAGGGAATTTCCACC 0.368000 5 29 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138942 126138942 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:126138942G>A ENST00000299308.3 + 9 2931 c.2923G>A c.(2923-2925)Ggc>Agc p.G975S TMEM132B_ENST00000535886.1_Missense_Mutation_p.G487S NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 975 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GATAGACAGGGGCCTGCAGTT 0.483000 8 20 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46543900 46543900 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr13:46543900G>A ENST00000242848.4 - 14 3127 c.2779C>T c.(2779-2781)Ctg>Ttg p.L927L ZC3H13_ENST00000282007.3_Silent_p.L927L Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 927 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) GAGCTTTCCAGGATTTCTGTC 0.433000 19 134 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44218815 44218815 + Missense_Mutation SNP A A T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:44218815A>T ENST00000371554.1 + 7 1202 c.988A>T c.(988-990)Agg>Tgg p.R330W HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R330W|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R330W P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 330 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GTTGGAATTCAGGGCATTGCT 0.393000 18 92 0 0 1 0 0 CD180 4064 broad.mit.edu 37 5 66478837 66478837 + Missense_Mutation SNP A A T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:66478837A>T ENST00000256447.4 - 3 1991 c.1834T>A c.(1834-1836)Tct>Act p.S612T NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 612 LRRCT. inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) CCCCTTAGAGATGGCGGGTTT 0.428000 25 89 0 0 1 0 0 RAB30 27314 broad.mit.edu 37 11 82698775 82698775 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:82698775C>T ENST00000533486.1 - 5 499 c.215G>A c.(214-216)cGg>cAg p.R72Q RAB30_ENST00000532548.1_Missense_Mutation_p.R72Q|RAB30_ENST00000527633.1_Missense_Mutation_p.R72Q|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000525117.1_Missense_Mutation_p.R44Q|RAB30_ENST00000534141.1_Missense_Mutation_p.R72Q|RAB30_ENST00000260056.2_Missense_Mutation_p.R72Q NM_014488.3 NP_055303.2 Q15771 RAB30_HUMAN RAB30, member RAS oncogene family 72 protein transport|small GTPase mediated signal transduction Golgi stack|plasma membrane GTP binding|GTPase activity endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 GGTAATGGACCGAAATCTCTC 0.463000 11 60 0 0 1 0 0 NELFB 25920 broad.mit.edu 37 9 140161696 140161696 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:140161696C>T ENST00000343053.4 + 10 1580 c.1243C>T c.(1243-1245)Ctg>Ttg p.L415L NM_015456.3 NP_056271.2 negative elongation factor complex member B GCGCAGGTTTCTGCAGGAGCA 0.701000 11 27 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38994972 38994972 + Nonsense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:38994972G>A ENST00000355481.4 + 50 8170 c.8039G>A c.(8038-8040)tGg>tAg p.W2680* RYR1_ENST00000360985.3_Nonsense_Mutation_p.W2680*|RYR1_ENST00000359596.3_Nonsense_Mutation_p.W2680* NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2680 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AAACTCTTCTGGGGCATCTTT 0.582000 13 25 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43777489 43777489 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:43777489C>T ENST00000389420.3 - 31 4668 c.4669G>A c.(4669-4671)Gag>Aag p.E1557K NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1557 TSP type-1 13. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCTGTGCACTCCATTCGTTGA 0.338000 4 14 0 0 1 0 0 ZNF699 374879 broad.mit.edu 37 19 9413102 9413102 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:9413102G>A ENST00000591998.1 - 3 355 c.127C>T c.(127-129)Ctc>Ttc p.L43F ZNF699_ENST00000308650.3_Missense_Mutation_p.L43F Q32M78 ZN699_HUMAN zinc finger protein 699 43 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCTCTGTAGAGGTTTCTCTGA 0.423000 24 52 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71500219 71500219 + Missense_Mutation SNP A A C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:71500219A>C ENST00000396073.3 + 6 686 c.405A>C c.(403-405)caA>caC p.Q135H NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 135 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AGCCACCACAAAAGCGGCCTT 0.483000 9 33 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187540610 187540610 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:187540610C>T ENST00000261023.3 + 28 3158 c.2884C>T c.(2884-2886)Cct>Tct p.P962S ITGAV_ENST00000374907.3_Missense_Mutation_p.P926S|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.P916S NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 962 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) CATAGAGTTTCCTTATAAGAA 0.318000 5 31 0 0 1 0 0 CUEDC1 404093 broad.mit.edu 37 17 55962836 55962836 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:55962836G>A ENST00000577830.1 - 2 503 c.90C>T c.(88-90)ccC>ccT p.P30P CUEDC1_ENST00000407144.2_Silent_p.P30P|CUEDC1_ENST00000577840.1_Intron|CUEDC1_ENST00000360238.2_Silent_p.P30P NM_001271875.1 NP_001258804.1 Q9NWM3 CUED1_HUMAN CUE domain containing 1 30 endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 TGAGCTCCTggggggcggccg 0.706000 10 25 0 0 1 0 0 IFIT1 3434 broad.mit.edu 37 10 91163358 91163358 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr10:91163358C>T ENST00000546318.1 + 2 2520 c.1233C>T c.(1231-1233)ctC>ctT p.L411L LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Silent_p.L442L NM_001270928.1|NM_001270929.1|NM_001270930.1 NP_001257857.1|NP_001257858.1|NP_001257859.1 P09914 IFIT1_HUMAN interferon-induced protein with tetratricopeptide repeats 1 442 cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway cytoplasm protein binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1) 15 GCTTGAGCCTCCTTGGGTTCG 0.428000 13 30 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35561051 35561051 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:35561051C>T ENST00000455600.1 + 11 4875 c.4306C>T c.(4306-4308)Ctg>Ttg p.L1436L NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1436 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) CAAGGAGAGCCTGCAGGAGCC 0.662000 8 25 0 0 1 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173883428 173883428 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:173883428C>T ENST00000264111.6 + 22 2237 c.2050C>T c.(2050-2052)Cgg>Tgg p.R684W RAPGEF4_ENST00000540783.1_Missense_Mutation_p.R532W|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.R514W|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R685W|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.R541W|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.R685W|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.R532W|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.R465W Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 685 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) CACAACCATTCGGGTGCCAGT 0.483000 14 74 0 0 1 0 0 RBM48 84060 broad.mit.edu 37 7 92161850 92161850 + Silent SNP T T C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:92161850T>C ENST00000481551.1 + 3 476 c.435T>C c.(433-435)acT>acC p.T145T RBM48_ENST00000265732.5_Silent_p.T145T Q5RL73 CG064_HUMAN RNA binding motif protein 48 145 nucleotide binding TAGTAAAAACTACTGAAAATA 0.408000 7 30 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92498153 92498153 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:92498153C>T ENST00000298047.6 + 5 4110 c.4093C>T c.(4093-4095)Ccg>Tcg p.P1365S FAT3_ENST00000409404.2_Missense_Mutation_p.P1365S|FAT3_ENST00000525166.1_Missense_Mutation_p.P1215S|RP11-203F8.1_ENST00000529884.1_RNA Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1365 Cadherin 13. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTTCGATGAGCCGTTTTATAA 0.493000 TCGA Ovarian(4;0.039) 12 43 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48454320 48454320 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:48454320C>T ENST00000358536.4 - 25 4954 c.4685G>A c.(4684-4686)gGc>gAc p.G1562D PLXNB1_ENST00000296440.6_Missense_Mutation_p.G1562D|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G1379D|PLXNB1_ENST00000456774.1_Missense_Mutation_p.G1379D|PLXNB1_ENST00000448774.2_Missense_Mutation_p.G173D NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1562 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GAAGGGGATGCCGCTGCCCAG 0.582000 4 61 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89401178 89401178 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:89401178G>A ENST00000439576.2 + 12 5736 c.5362G>A c.(5362-5364)Gaa>Aaa p.E1788K ACAN_ENST00000352105.7_Missense_Mutation_p.E1788K|ACAN_ENST00000561243.1_Missense_Mutation_p.E1788K|ACAN_ENST00000559004.1_Missense_Mutation_p.E1788K NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1788 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) TCTGAGTGGAGAAACATCTGG 0.532000 9 38 0 0 1 0 0 SRSF7 6432 broad.mit.edu 37 2 38977332 38977332 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:38977332G>A ENST00000313117.6 - 2 270 c.33C>T c.(31-33)acC>acT p.T11T SRSF7_ENST00000409276.1_Silent_p.T11T|SRSF7_ENST00000446327.2_Silent_p.T11T NM_001031684.2|NM_001195446.1 NP_001026854.1|NP_001182375.1 Q16629 SRSF7_HUMAN serine/arginine-rich splicing factor 7 11 RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CATACACCTTGGTTTCTGTTT 0.413000 18 70 0 0 1 0 0 SYDE2 84144 broad.mit.edu 37 1 85665966 85665966 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:85665966C>T ENST00000341460.5 - 1 763 c.714G>A c.(712-714)tcG>tcA p.S238S NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 238 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) CTGGAGGCACCGACAGGACAC 0.547000 18 69 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116406784 116406784 + Silent SNP A A C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:116406784A>C ENST00000281928.3 - 28 6392 c.6186T>G c.(6184-6186)ccT>ccG p.P2062P NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 2062 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) CAATTCCAGAAGGAGAGCCTG 0.463000 6 45 0 0 1 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40665947 40665947 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:40665947C>T ENST00000343619.4 + 20 2322 c.2199C>T c.(2197-2199)tcC>tcT p.S733S ATP6V0A1_ENST00000585525.1_Silent_p.S690S|ATP6V0A1_ENST00000546249.1_Silent_p.S733S|ATP6V0A1_ENST00000544137.1_Silent_p.S379S|ATP6V0A1_ENST00000537728.1_Silent_p.S684S|ATP6V0A1_ENST00000393829.2_Silent_p.S727S|ATP6V0A1_ENST00000264649.6_Silent_p.S734S NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 733 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) GCTGCATCTCCAACACTGCCT 0.592000 35 128 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234444847 234444847 + Splice_Site SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:234444847G>A ENST00000366618.3 + 4 754 c.608_splice c.e4-1 p.R203_splice SLC35F3_ENST00000366617.3_Splice_Site_p.R134_splice NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 134 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) CTTGTTTTAGGGAATGCTGTC 0.373000 5 34 0 0 1 0 0 WBSCR22 114049 broad.mit.edu 37 7 73100984 73100984 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:73100984C>T ENST00000423166.2 + 3 221 c.174C>T c.(172-174)atC>atT p.I58I WBSCR22_ENST00000265758.2_Silent_p.I35I|WBSCR22_ENST00000423497.1_Silent_p.I35I|WBSCR22_ENST00000464615.1_3'UTR O43709 WBS22_HUMAN Williams Beuren syndrome chromosome region 22 35 nucleus methyltransferase activity autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1) 13 Lung NSC(55;0.0908)|all_lung(88;0.198) TGATTGATATCCAGACCAGGA 0.473000 46 148 0 0 1 0 0 AGAP7 653268 broad.mit.edu 37 10 51464835 51464835 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr10:51464835C>T ENST00000374095.5 - 7 1746 c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K NM_001077685.1 NP_001071153.1 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 541 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 11 ATCCACCGTTCCTTCTCTTCC 0.572000 17 54 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68193597 68193597 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:68193597C>T ENST00000294304.7 + 16 3685 c.3579C>T c.(3577-3579)ggC>ggT p.G1193G NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1193 Beta-propeller 4. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GCATCCAGGGCCGTGTCGCCC 0.622000 30 74 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51196695 51196695 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:51196695G>A ENST00000266037.9 + 11 872 c.849G>A c.(847-849)atG>atA p.M283I NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 283 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GCAAAGATATGAAGAGAGATT 0.353000 6 44 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 980798 980798 + Nonsense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:980798C>T ENST00000379370.2 + 14 2481 c.2431C>T c.(2431-2433)Cag>Tag p.Q811* NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 811 Laminin EGF-like 1. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) AGCCACAGGCCAGTGCTCCTG 0.667000 6 33 0 0 1 0 0 RTN4RL2 349667 broad.mit.edu 37 11 57235093 57235093 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:57235093G>A ENST00000335099.3 + 2 360 c.43G>A c.(43-45)Gcc>Acc p.A15T RTN4RL2_ENST00000395120.2_Missense_Mutation_p.A15T|RTN4RL2_ENST00000533205.1_Missense_Mutation_p.A15T NM_178570.1 NP_848665.1 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 15 axon regeneration anchored to plasma membrane receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(2) 6 TCCCGCCTCGGCCTGCCTCCT 0.687000 40 127 0 0 1 0 0 CRYBB3 1417 broad.mit.edu 37 22 25599758 25599758 + Missense_Mutation SNP C C T rs141617094 TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr22:25599758C>T ENST00000215855.2 + 4 303 c.223C>T c.(223-225)Cgc>Tgc p.R75C CRYBB3_ENST00000404334.1_Missense_Mutation_p.R75C NM_004076.3 NP_004067.1 P26998 CRBB3_HUMAN crystallin, beta B3 75 Beta/gamma crystallin 'Greek key' 2. visual perception protein binding|structural constituent of eye lens large_intestine(2)|lung(2)|prostate(1) 5 CAGGGCCTTCCGCGGGGAGCA 0.572000 18 137 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57552264 57552264 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:57552264C>T ENST00000243077.3 + 11 2107 c.1641C>T c.(1639-1641)gtC>gtT p.V547V NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 547 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GGGCCAAGGTCCCGGATGAGC 0.602000 13 23 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109704684 109704684 + Missense_Mutation SNP C C T rs45520342 TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr13:109704684C>T ENST00000356711.2 + 25 2969 c.2843C>T c.(2842-2844)tCg>tTg p.S948L MYO16_ENST00000457511.2_Missense_Mutation_p.S460L|MYO16_ENST00000357550.2_Missense_Mutation_p.S948L NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 948 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity p.S948*(1) NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TTGTTCCAGTCGAAATTGTCA 0.363000 11 57 0 0 1 0 0 DIO1 1733 broad.mit.edu 37 1 54371833 54371833 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:54371833G>A ENST00000361921.3 + 3 571 c.547G>A c.(547-549)Gca>Aca p.A183T DIO1_ENST00000388876.3_Missense_Mutation_p.A135T|DIO1_ENST00000524406.1_Missense_Mutation_p.A54T|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000322679.6_Intron|DIO1_ENST00000525202.1_Missense_Mutation_p.A119T|DIO1_ENST00000532493.1_Intron NM_000792.5|NM_213593.3 NP_000783.2|NP_998758.1 P49895 IOD1_HUMAN deiodinase, iodothyronine, type I 183 hormone biosynthetic process|thyroid hormone generation endoplasmic reticulum membrane|integral to membrane|plasma membrane selenium binding|thyroxine 5'-deiodinase activity cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1) 9 TCGCCTGCAGGCAGCCCATCT 0.572000 10 36 0 0 1 0 0 ZNF598 90850 broad.mit.edu 37 16 2048423 2048423 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:2048423C>T ENST00000563630.1 - 12 2602 c.2360G>A c.(2359-2361)aGc>aAc p.S787N ZNF598_ENST00000431526.1_Missense_Mutation_p.S842N|ZNF598_ENST00000562103.1_Missense_Mutation_p.S787N Q86UK7 ZN598_HUMAN zinc finger protein 598 842 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 GGACTTGGTGCTCAGAGGCTT 0.632000 31 81 0 0 1 0 0 C11orf85 283129 broad.mit.edu 37 11 64717902 64717902 + Splice_Site SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:64717902C>T ENST00000301896.5 - 5 221 c.147_splice c.e5-1 p.D50_splice C11orf85_ENST00000530444.1_Intron|C11orf85_ENST00000432175.1_Splice_Site_p.D50_splice|C11orf85_ENST00000536065.1_5'UTR NM_001037225.1 NP_001032302.1 Q3KP22 CK085_HUMAN chromosome 11 open reading frame 85 50 breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 7 CGGACAGAATCCTGAAAAACA 0.358000 5 28 0 0 1 0 0 COL6A5 256076 broad.mit.edu 37 3 130095627 130095627 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:130095627C>T ENST00000265379.6 + 3 1109 c.615C>T c.(613-615)atC>atT p.I205I COL6A5_ENST00000432398.2_Silent_p.I205I A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 205 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 TGACACAGATCATCAAGGATG 0.478000 6 29 0 0 1 0 0 USP7 7874 broad.mit.edu 37 16 9014253 9014253 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:9014253C>T ENST00000344836.4 - 5 772 c.574G>A c.(574-576)Gaa>Aaa p.E192K USP7_ENST00000381886.4_Missense_Mutation_p.E176K|USP7_ENST00000535863.1_Missense_Mutation_p.E93K NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 192 Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 ACAAAGACTTCAAAGGTAACT 0.363000 14 53 0 0 1 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28211921 28211921 + Silent SNP G G A rs138450833 byFrequency TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr21:28211921G>A ENST00000284984.2 - 7 2467 c.2013C>T c.(2011-2013)ttC>ttT p.F671F NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 671 Cys-rich. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) GCTGCAAAACGAAGAAGTAGC 0.458000 20 99 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27761099 27761099 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:27761099C>T ENST00000261588.4 + 16 2837 c.2818C>T c.(2818-2820)Ccc>Tcc p.P940S NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 940 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 CGACTTGCCCCCCTCCAAGAA 0.632000 6 38 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 179979887 179979887 + Nonsense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:179979887G>A ENST00000428443.3 - 16 2060 c.1744C>T c.(1744-1746)Cga>Tga p.R582* NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 582 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) CTGTTCAGTCGAGGAAGTGTA 0.428000 4 26 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4446005 4446005 + Missense_Mutation SNP G G C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:4446005G>C ENST00000254718.4 - 21 3230 c.2924C>G c.(2923-2925)aCc>aGc p.T975S MYBBP1A_ENST00000381556.2_Missense_Mutation_p.T975S Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 975 nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 GTACACCCGGGTCACCAGGTT 0.647000 21 107 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223284741 223284741 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:223284741C>T ENST00000540964.1 - 4 2094 c.1633G>A c.(1633-1635)Gat>Aat p.D545N TLR5_ENST00000342210.6_Missense_Mutation_p.D545N O60602 TLR5_HUMAN toll-like receptor 5 545 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) GCAGGTAAATCATTGTGAGAA 0.413000 28 80 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3614919 3614919 + RNA SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:3614919G>A ENST00000301749.7 - 0 524 NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CGGGGCCTGGGAGCCTTGACT 0.711000 9 33 0 0 1 0 0 ZNF567 163081 broad.mit.edu 37 19 37210766 37210766 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:37210766C>T ENST00000585696.1 + 3 2277 c.1047C>T c.(1045-1047)ctC>ctT p.L349L ZNF567_ENST00000588311.1_Silent_p.L349L|ZNF567_ENST00000536254.2_Silent_p.L380L|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Silent_p.L349L|ZNF567_ENST00000360729.4_Silent_p.L349L Q8N184 ZN567_HUMAN zinc finger protein 567 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AGACAACACTCTCTCTACATC 0.438000 9 63 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43927479 43927479 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:43927479C>T ENST00000282406.4 + 8 1492 c.1382C>T c.(1381-1383)cCa>cTa p.P461L NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 461 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTAAGCCAGCCACAGTTAAGC 0.428000 25 60 0 0 1 0 0 CYBB 1536 broad.mit.edu 37 X 37652938 37652938 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chrX:37652938C>T ENST00000378588.4 + 5 425 c.358C>T c.(358-360)Cta>Tta p.L120L CYBB_ENST00000545017.1_Silent_p.L88L|CYBB_ENST00000536160.1_Intron|TM4SF2_ENST00000465127.1_Intron NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 120 Ferric oxidoreductase. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 CATTGCACATCTATTTAATGT 0.403000 12 33 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107040817 107040817 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:107040817C>T ENST00000409886.3 - 20 3693 c.3606G>A c.(3604-3606)ctG>ctA p.L1202L RGPD3_ENST00000304514.7_Silent_p.L1202L NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1202 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TGAAATCTTTCAGTCCACTCT 0.423000 31 79 0 0 1 0 0 SV2C 22987 broad.mit.edu 37 5 75597231 75597231 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:75597231G>A ENST00000502798.2 + 12 2303 c.1861G>A c.(1861-1863)Ggg>Agg p.G621R SV2C_ENST00000322285.7_Missense_Mutation_p.G621R|RP11-466P24.6_ENST00000502589.1_RNA NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 621 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) GGTGCTTTCGGGGATCAGCTG 0.483000 25 104 0 0 1 0 0 RPL6 6128 broad.mit.edu 37 12 112843836 112843836 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:112843836G>A ENST00000424576.2 - 6 720 c.535C>T c.(535-537)Ctg>Ttg p.L179L RPL6_ENST00000202773.9_Silent_p.L179L NM_001024662.1 NP_001019833.1 Q02878 RL6_HUMAN ribosomal protein L6 179 GPLVLNR -> DLWSSIE (in Ref. 1; CAA49188). endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|RNA binding|structural constituent of ribosome cervix(1)|large_intestine(6)|lung(3) 10 TTGAGGACCAGAGGTCCTAAG 0.388000 7 27 0 0 1 0 0 MDH2 4191 broad.mit.edu 37 7 75695626 75695626 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:75695626C>T ENST00000315758.5 + 9 1009 c.915C>T c.(913-915)atC>atT p.I305I MDH2_ENST00000443006.1_Silent_p.I198I|MDH2_ENST00000432020.2_Silent_p.I263I NM_005918.2 NP_005909.2 P40926 MDHM_HUMAN malate dehydrogenase 2, NAD (mitochondrial) 305 gluconeogenesis|malate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus|plasma membrane binding|L-malate dehydrogenase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2) 14 NADH(DB00157) ACCTGGGCATCGGCAAAGTCT 0.498000 15 62 0 0 1 0 0 ATF6B 1388 broad.mit.edu 37 6 32085698 32085698 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:32085698G>A ENST00000375201.4 - 12 1398 c.1353C>T c.(1351-1353)ctC>ctT p.L451L ATF6B_ENST00000375203.3_Silent_p.L454L Q99941 ATF6B_HUMAN activating transcription factor 6 beta 454 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 AGGACCCCTGGAGAGGTTCAA 0.627000 4 11 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97839129 97839129 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:97839129C>T ENST00000370192.3 - 16 2146 c.2046G>A c.(2044-2046)ctG>ctA p.L682L NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 682 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GCCCACAGGCCAGGCCCATTC 0.458000 9 37 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9062543 9062543 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:9062543G>A ENST00000397910.4 - 3 25106 c.24903C>T c.(24901-24903)aaC>aaT p.N8301N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8303 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCAGGCCAGGGTTGAGAAGAG 0.517000 14 48 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78430375 78430375 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:78430375G>A ENST00000370767.1 - 10 880 c.793C>T c.(793-795)Cgg>Tgg p.R265W FUBP1_ENST00000370768.2_Missense_Mutation_p.R265W|FUBP1_ENST00000436586.2_Missense_Mutation_p.R286W Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 265 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 TACTCATTCCGAACTTCTCTG 0.348000 """F, N""" oligodendroglioma 30 115 0 0 1 0 0 GPR162 27239 broad.mit.edu 37 12 6935985 6935985 + Missense_Mutation SNP G G C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:6935985G>C ENST00000311268.3 + 5 2170 c.1383G>C c.(1381-1383)agG>agC p.R461S GPR162_ENST00000428545.2_Missense_Mutation_p.R177S|GPR162_ENST00000382315.3_Missense_Mutation_p.R157S NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 461 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 AAAGACACAGGTTGGAGGACG 0.642000 23 67 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117314613 117314613 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:117314613G>A ENST00000321322.6 - 21 4032 c.4031C>T c.(4030-4032)cCt>cTt p.P1344L DSCAML1_ENST00000527706.1_Missense_Mutation_p.P1074L NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1284 Ig-like C2-type 10. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CTTGCCAGCAGGCTCGATGGT 0.622000 18 53 0 0 1 0 0 EGR3 1960 broad.mit.edu 37 8 22548479 22548479 + Missense_Mutation SNP G G C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:22548479G>C ENST00000317216.2 - 2 1028 c.671C>G c.(670-672)cCt>cGt p.P224R EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Missense_Mutation_p.P186R|EGR3_ENST00000524088.1_5'UTR NM_001199881.1|NM_004430.2 NP_001186810.1|NP_004421.2 Q06889 EGR3_HUMAN early growth response 3 224 circadian rhythm|muscle organ development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Prostate(55;0.0421)|Breast(100;0.102) Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608) AGGGGTAATAGGGGGCGGGTT 0.617000 20 93 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82833265 82833265 + Nonsense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:82833265G>A ENST00000265077.3 + 8 5008 c.4443G>A c.(4441-4443)tgG>tgA p.W1481* VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Nonsense_Mutation_p.W494*|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1481 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AAGTTACATGGAAGCCTGAGA 0.413000 14 54 0 0 1 0 0 CACHD1 57685 broad.mit.edu 37 1 65113662 65113662 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:65113662C>T ENST00000371073.2 + 9 1335 c.1335C>T c.(1333-1335)aaC>aaT p.N445N CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.N394N Q5VU97 CAHD1_HUMAN cache domain containing 1 445 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ACCTTCCCAACCGGATGATTG 0.498000 7 21 0 0 1 0 0 CYP2A6 1548 broad.mit.edu 37 19 41355729 41355729 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:41355729C>T ENST00000301141.5 - 2 357 c.337G>A c.(337-339)Ggc>Agc p.G113S CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753.3 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 113 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) TCACCATAGCCTTTGAAGACC 0.627000 17 58 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7636052 7636052 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:7636052C>T ENST00000359156.4 - 12 3201 c.2999G>A c.(2998-3000)gGg>gAg p.G1000E CD163_ENST00000396620.3_Missense_Mutation_p.G1033E|CD163_ENST00000541972.1_Missense_Mutation_p.G988E|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000432237.2_Missense_Mutation_p.G1000E NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1000 SRCR 9. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AGACTCATTCCCTTTGCACTT 0.512000 8 33 0 0 1 0 0 E2F8 79733 broad.mit.edu 37 11 19251334 19251334 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:19251334G>A ENST00000527884.1 - 10 1792 c.1560C>T c.(1558-1560)tcC>tcT p.S520S E2F8_ENST00000250024.4_Silent_p.S520S|RP11-428C19.4_ENST00000527978.1_RNA NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 520 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGATGGCATAGGATGGGCCTG 0.612000 25 118 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149226939 149226939 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:149226939C>T ENST00000407073.1 + 9 2424 c.1427C>T c.(1426-1428)cCt>cTt p.P476L MBD5_ENST00000404807.1_Missense_Mutation_p.P476L NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 476 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) ATGATGCCACCTGTAGGACCC 0.507000 6 32 0 0 1 0 0 GPR115 221393 broad.mit.edu 37 6 47682871 47682871 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:47682871C>T ENST00000283303.2 + 6 2148 c.1890C>T c.(1888-1890)tcC>tcT p.S630S GPR115_ENST00000371220.1_Silent_p.S687S|GPR115_ENST00000327753.3_Silent_p.S630S NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 630 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 AAGGCACTTCCTTGACGTTCC 0.443000 31 70 0 0 1 0 0 FBXO15 201456 broad.mit.edu 37 18 71791797 71791797 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr18:71791797C>T ENST00000269500.5 - 7 1029 c.694G>A c.(694-696)Gaa>Aaa p.E232K FBXO15_ENST00000419743.2_Missense_Mutation_p.E308K NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 232 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) AAAGCCAGTTCTTCCTCCTTC 0.363000 21 61 0 0 1 0 0 CCDC9 26093 broad.mit.edu 37 19 47774721 47774721 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:47774721C>T ENST00000221922.6 + 12 1604 c.1382C>T c.(1381-1383)cCc>cTc p.P461L NM_015603.2 NP_056418.1 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 461 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 12 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) ACCGGGATCCCCTGCAGTGAG 0.657000 15 47 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87968876 87968876 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:87968876C>T ENST00000369577.3 + 8 5572 c.5529C>T c.(5527-5529)ggC>ggT p.G1843G ZNF292_ENST00000339907.4_Silent_p.G1838G NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1843 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TTTTAGAAGGCTTACAGAAAT 0.373000 8 25 0 0 1 0 0 ELAC2 60528 broad.mit.edu 37 17 12898119 12898119 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:12898119G>A ENST00000338034.4 - 21 2230 c.1991C>T c.(1990-1992)tCc>tTc p.S664F ELAC2_ENST00000426905.3_Missense_Mutation_p.S624F|ELAC2_ENST00000395962.2_Missense_Mutation_p.S645F NM_018127.6|NM_173717.1 NP_060597.4|NP_776065.1 Q9BQ52 RNZ2_HUMAN elaC ribonuclease Z 2 664 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 GGTGTCCCCGGAATAGACCAC 0.597000 13 44 0 0 1 0 0 LAT 27040 broad.mit.edu 37 16 28997708 28997708 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:28997708C>T ENST00000395456.2 + 5 573 c.251C>T c.(250-252)tCc>tTc p.S84F LAT_ENST00000563964.1_3'UTR|LAT_ENST00000566177.1_Missense_Mutation_p.S83F|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000354453.4_Missense_Mutation_p.S84F|LAT_ENST00000395461.3_Missense_Mutation_p.S120F|LAT_ENST00000564277.1_Missense_Mutation_p.S83F|LAT_ENST00000454369.2_Missense_Mutation_p.S83F|LAT_ENST00000360872.5_Missense_Mutation_p.S84F NM_001014987.1|NM_001014988.1|NM_014387.3 NP_001014987.1|NP_001014988.1|NP_055202.1 O43561 LAT_HUMAN linker for activation of T cells 84 calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway immunological synapse|integral to membrane|intracellular|membrane raft SH3/SH2 adaptor activity large_intestine(2)|lung(3)|urinary_tract(1) 6 Hepatocellular(780;0.244) CCCAGAAGATCCCCGCAGCCC 0.622000 23 95 0 0 1 0 0 MAPK1IP1L 93487 broad.mit.edu 37 14 55529405 55529405 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:55529405C>T ENST00000395468.3 + 3 265 c.88C>T c.(88-90)Cct>Tct p.P30S MAPK1IP1L_ENST00000554364.1_3'UTR NM_144578.3 NP_653179.1 Q8NDC0 MISSL_HUMAN mitogen-activated protein kinase 1 interacting protein 1-like 30 Pro-rich. endometrium(2)|large_intestine(1)|lung(3) 6 ACCTGGCCAACCTCCTCAAGG 0.527000 10 26 0 0 1 0 0 KIAA1009 22832 broad.mit.edu 37 6 84862765 84862765 + Missense_Mutation SNP C C G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:84862765C>G ENST00000403245.3 - 23 3242 c.3128G>C c.(3127-3129)aGa>aCa p.R1043T KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.R967T NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 1043 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) TTCAAGGTTTCTTACAGTGAT 0.378000 7 10 0 0 1 0 0 ZNF660 285349 broad.mit.edu 37 3 44636173 44636173 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:44636173C>T ENST00000322734.2 + 3 821 c.488C>T c.(487-489)tCt>tTt p.S163F RP11-944L7.4_ENST00000457331.1_RNA NM_173658.2 NP_775929.2 Q6AZW8 ZN660_HUMAN zinc finger protein 660 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) AAGCCCTATTCTTGTATTGAG 0.438000 27 91 0 0 1 0 0 ZNF263 10127 broad.mit.edu 37 16 3340514 3340514 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:3340514C>T ENST00000219069.5 + 6 2884 c.2008C>T c.(2008-2010)Cgg>Tgg p.R670W ZNF263_ENST00000538765.1_Missense_Mutation_p.R318W NM_005741.4 NP_005732.2 O14978 ZN263_HUMAN zinc finger protein 263 670 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 AAGCTTCTCTCGGAGTTCCCG 0.502000 13 46 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21011596 21011596 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:21011596C>T ENST00000261383.3 - 43 6370 c.6371G>A c.(6370-6372)cGg>cAg p.R2124Q DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2124 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AAGGCCCTTCCGTCGTCGATC 0.512000 21 67 0 0 1 0 0 SLC13A2 9058 broad.mit.edu 37 17 26816316 26816316 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:26816316C>T ENST00000444914.3 + 2 607 c.187C>T c.(187-189)Ccc>Tcc p.P63S SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000314669.5_Missense_Mutation_p.P63S NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 63 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) TGCCCTCTTCCCCTTAATCCT 0.622000 13 46 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5262893 5262893 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:5262893C>T ENST00000274181.7 + 18 2924 c.2786C>T c.(2785-2787)cCc>cTc p.P929L NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 929 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GCCTGTCCTCCCAGGTAAGAA 0.507000 19 45 0 0 1 0 0 GALNT5 11227 broad.mit.edu 37 2 158165144 158165144 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:158165144C>T ENST00000259056.4 + 9 3071 c.2586C>T c.(2584-2586)atC>atT p.I862I NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 862 Ricin B-type lectin. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 TAGCCCCCATCCCTGATAAAG 0.418000 43 134 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43226991 43226991 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:43226991G>A ENST00000259750.4 + 11 1315 c.1232G>A c.(1231-1233)cGg>cAg p.R411Q TTBK1_ENST00000304139.5_Missense_Mutation_p.R360Q NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 411 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) AACAAACTCCGGATCAACATC 0.642000 5 71 0 0 1 0 0 FER1L5 90342 broad.mit.edu 37 2 97361640 97361640 + RNA SNP A A G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:97361640A>G ENST00000457909.1 + 0 3559 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 CAAAGCTTCCAAGTACGGCCC 0.632000 3 17 0 0 1 0 0 SSX2IP 117178 broad.mit.edu 37 1 85121526 85121526 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:85121526G>A ENST00000437941.2 - 10 1649 c.1297C>T c.(1297-1299)Ctg>Ttg p.L433L SSX2IP_ENST00000342203.3_Silent_p.L460L|SSX2IP_ENST00000370612.4_Silent_p.L460L|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000605755.1_Silent_p.L433L NM_001166295.1|NM_001166417.1 NP_001159767.1|NP_001159889.1 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting protein 460 cell adhesion nucleus|protein complex endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1) 19 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TCCAATCCCAGGCGAATAGCG 0.418000 8 21 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140249047 140249047 + Missense_Mutation SNP A A T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:140249047A>T ENST00000398640.2 + 1 359 c.359A>T c.(358-360)aAc>aTc p.N120I PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCATGTGAACGTGGAGGTG 0.567000 62 170 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65890231 65890231 + Silent SNP T T C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:65890231T>C ENST00000321892.4 + 9 2932 c.2871T>C c.(2869-2871)gtT>gtC p.V957V BPTF_ENST00000335221.5_Silent_p.V957V|BPTF_ENST00000424123.3_Silent_p.V818V|BPTF_ENST00000306378.6_Silent_p.V831V Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 957 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) AGTGTGCAGTTAAACCAGTTG 0.403000 26 83 0 0 1 0 0 PGAP3 93210 broad.mit.edu 37 17 37829901 37829901 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:37829901G>A ENST00000300658.4 - 6 652 c.560C>T c.(559-561)aCc>aTc p.T187I PGAP3_ENST00000429199.2_Missense_Mutation_p.T166I|PGAP3_ENST00000579146.1_Intron|PGAP3_ENST00000378011.4_Missense_Mutation_p.T136I NM_033419.3 NP_219487.3 Q96FM1 PGAP3_HUMAN post-GPI attachment to proteins 3 187 GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 CAGCCCCACGGTCCTGCCCCA 0.652000 20 65 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179424738 179424738 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:179424738C>T ENST00000589042.1 - 326 86345 c.86121G>A c.(86119-86121)ggG>ggA p.G28707G TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.G26139G|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.G27066G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.G19642G|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.G19834G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.G19767G|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27066 Fibronectin type-III 109. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATATTCTGTCCCTCGTAAGC 0.428000 17 35 0 0 1 0 0 STOML1 9399 broad.mit.edu 37 15 74281004 74281004 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:74281004G>A ENST00000316900.5 - 4 654 c.530C>T c.(529-531)gCc>gTc p.A177V STOML1_ENST00000316911.6_Missense_Mutation_p.A127V|STOML1_ENST00000561656.1_Missense_Mutation_p.A90V|STOML1_ENST00000564777.1_Missense_Mutation_p.A127V|STOML1_ENST00000359750.4_Missense_Mutation_p.A177V|STOML1_ENST00000541638.1_Missense_Mutation_p.A135V NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4 NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2 Q9UBI4 STML1_HUMAN stomatin (EPB72)-like 1 177 integral to membrane sterol binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 CTTGAGCAGGGCCTTGGTCAT 0.592000 12 68 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47503613 47503613 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:47503613C>T ENST00000404338.3 + 6 4168 c.4168C>T c.(4168-4170)Ctc>Ttc p.L1390F NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 1390 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity CAAGGTGAATCTCATGACCAG 0.587000 41 171 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70455305 70455305 + Nonsense_Mutation SNP G G A rs139303872 byFrequency TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:70455305G>A ENST00000503640.1 - 6 1424 c.1369C>T c.(1369-1371)Cga>Tga p.R457* UGT2A1_ENST00000514019.1_Nonsense_Mutation_p.R623*|UGT2A1_ENST00000286604.4_Nonsense_Mutation_p.R457*|UGT2A2_ENST00000457664.2_Nonsense_Mutation_p.R466*|UGT2A1_ENST00000512704.1_Nonsense_Mutation_p.R413* NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 457 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity p.R457*(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 AAGACTGCTCGATCCAGGGGC 0.448000 26 101 0 0 1 0 0 NEXN 91624 broad.mit.edu 37 1 78395051 78395051 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:78395051C>T ENST00000330010.8 + 8 1020 c.723C>T c.(721-723)taC>taT p.Y241Y NEXN_ENST00000334785.7_Silent_p.Y305Y|NEXN_ENST00000457030.1_Silent_p.Y291Y NM_001172309.1 NP_001165780.1 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 305 Glu-rich. regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Colorectal(170;0.114) TTAAAGGGTACCGCCCTGGTA 0.358000 4 25 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160692157 160692157 + Splice_Site SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:160692157C>T ENST00000263636.4 - 26 3535 c.e26-1 LY75-CD302_ENST00000505052.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75_ENST00000554112.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) TGAGTTCATCCTGTAAGGAGC 0.373000 13 54 0 0 1 0 0 FOXJ1 2302 broad.mit.edu 37 17 74133888 74133888 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:74133888C>T ENST00000322957.6 - 3 1166 c.812G>A c.(811-813)gGg>gAg p.G271E NM_001454.3 NP_001445.2 Q92949 FOXJ1_HUMAN forkhead box J1 271 GWGAGEGRLGHKRKQPLPKRVAKVPR -> VWVQARAGWDI SPNTLCPRGGQGPA (in Ref. 2; CAA67729). actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(1)|liver(1)|pancreas(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(166;0.187) GCGCTTATGCCCCAGCCTGCC 0.736000 4 15 0 0 1 0 0 HAL 3034 broad.mit.edu 37 12 96386562 96386562 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:96386562G>A ENST00000261208.3 - 9 979 c.611C>T c.(610-612)cCt>cTt p.P204L HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Missense_Mutation_p.P204L NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 204 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) ACACCTCTCAGGACTTAGTGG 0.443000 52 141 0 0 1 0 0 WNT3A 89780 broad.mit.edu 37 1 228210370 228210370 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:228210370C>T ENST00000284523.1 + 2 152 c.74C>T c.(73-75)tCg>tTg p.S25L WNT3A_ENST00000366753.2_Missense_Mutation_p.S25L NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 25 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) CTCTGCAGGTCGCTGGCTGTT 0.637000 16 51 0 0 1 0 0 UBN1 29855 broad.mit.edu 37 16 4927109 4927109 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:4927109C>T ENST00000396658.4 + 15 3965 c.3262C>T c.(3262-3264)Cac>Tac p.H1088Y UBN1_ENST00000262376.6_Missense_Mutation_p.H1088Y|UBN1_ENST00000590769.1_Missense_Mutation_p.H1088Y|UBN1_ENST00000545171.1_Missense_Mutation_p.H1088Y NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 1088 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 TGGCCTTGGCCACAGTAAGTG 0.582000 45 160 0 0 1 0 0 PGAP3 93210 broad.mit.edu 37 17 37829900 37829900 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:37829900G>A ENST00000300658.4 - 6 653 c.561C>T c.(559-561)acC>acT p.T187T PGAP3_ENST00000429199.2_Silent_p.T166T|PGAP3_ENST00000579146.1_Intron|PGAP3_ENST00000378011.4_Silent_p.T136T NM_033419.3 NP_219487.3 Q96FM1 PGAP3_HUMAN post-GPI attachment to proteins 3 187 GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 GCAGCCCCACGGTCCTGCCCC 0.647000 21 65 0 0 1 0 0 TARBP1 6894 broad.mit.edu 37 1 234529414 234529414 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:234529414G>A ENST00000040877.1 - 27 4412 c.4413C>T c.(4411-4413)atC>atT p.I1471I TARBP1_ENST00000483404.1_5'UTR NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 1471 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) TCGGTTTGTCGATGAGCGAGG 0.463000 17 56 0 0 1 0 0 NTPCR 84284 broad.mit.edu 37 1 233092129 233092129 + Silent SNP T T C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:233092129T>C ENST00000366627.4 + 3 305 c.234T>C c.(232-234)gtT>gtC p.V78V NTPCR_ENST00000366628.4_Silent_p.V78V Q9BSD7 NTPCR_HUMAN nucleoside-triphosphatase, cancer-related 78 ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity large_intestine(2)|lung(1)|ovary(1) 4 AATGCCGAGTTGGGCAGTATG 0.438000 12 29 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74279175 74279175 + Silent SNP G G A rs143665140 TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:74279175G>A ENST00000295897.4 + 8 971 c.882G>A c.(880-882)tcG>tcA p.S294S ALB_ENST00000401494.3_Silent_p.S179S|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Silent_p.S294S|ALB_ENST00000503124.1_Silent_p.S144S|ALB_ENST00000415165.2_Silent_p.S102S NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 294 Albumin 2. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) ATCAAGATTCGATCTCCAGTA 0.418000 27 53 0 0 1 0 0 CHRM5 1133 broad.mit.edu 37 15 34355594 34355594 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:34355594G>A ENST00000383263.5 + 3 1346 c.676G>A c.(676-678)Gac>Aac p.D226N CHRM5_ENST00000557872.1_Missense_Mutation_p.D226N NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 226 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) GCGAACCAAGGACCTGGCTGA 0.527000 33 128 0 0 1 0 0 MIER1 57708 broad.mit.edu 37 1 67411991 67411991 + Nonstop_Mutation SNP T T C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:67411991T>C ENST00000371012.2 + 5 488 c.244T>C c.(244-246)Tag>Cag p.*82Q MIER1_ENST00000371018.3_Intron|MIER1_ENST00000371016.1_Intron|MIER1_ENST00000479067.1_Intron|MIER1_ENST00000401041.1_Intron|MIER1_ENST00000371014.1_Intron|MIER1_ENST00000357692.2_Intron|MIER1_ENST00000355356.3_Intron|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000401042.3_Intron NM_001278215.1 NP_001265144.1 Q8N108 MIER1_HUMAN mesoderm induction early response 1, transcriptional regulator 0 Glu-rich. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3) 15 AAATAACATGTAGAGCTAGGG 0.333000 18 72 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9020077 9020077 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:9020077C>T ENST00000397910.4 - 21 37621 c.37418G>A c.(37417-37419)aGa>aAa p.R12473K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12475 SEA 3. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGCCGCTCTCTGTTGAGTCC 0.562000 40 158 0 0 1 0 0 SCAF4 57466 broad.mit.edu 37 21 33044428 33044428 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr21:33044428G>A ENST00000286835.7 - 20 3110 c.2728C>T c.(2728-2730)Cca>Tca p.P910S SCAF4_ENST00000399804.1_Missense_Mutation_p.P888S|SCAF4_ENST00000434667.3_Missense_Mutation_p.P895S NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 910 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 CCATGCGGTGGGAAGGGACCT 0.667000 18 50 0 0 1 0 0 MCF2L2 23101 broad.mit.edu 37 3 182947467 182947467 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:182947467C>T ENST00000328913.3 - 17 2329 c.2032G>A c.(2032-2034)Gaa>Aaa p.E678K MCF2L2_ENST00000447025.2_Missense_Mutation_p.E678K|MCF2L2_ENST00000473233.1_Missense_Mutation_p.E678K NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 678 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.E678K(1) breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TTGTGAAATTCGTAAAGTTCT 0.328000 14 66 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633997 70633997 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:70633997G>A ENST00000381269.2 - 2 1896 c.1143C>T c.(1141-1143)tcC>tcT p.S381S SLC8A3_ENST00000357887.3_Silent_p.S381S|SLC8A3_ENST00000356921.2_Silent_p.S381S|SLC8A3_ENST00000528359.1_Silent_p.S381S|SLC8A3_ENST00000534137.1_Silent_p.S381S NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 381 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CGCTCATGCTGGAGGCCTTCT 0.517000 33 103 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57646682 57646682 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:57646682C>T ENST00000269834.1 - 5 1408 c.1023G>A c.(1021-1023)gaG>gaA p.E341E NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAAAGGCCTTCTCACATATGC 0.403000 24 92 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89401811 89401811 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:89401811C>T ENST00000439576.2 + 12 6369 c.5995C>T c.(5995-5997)Cca>Tca p.P1999S ACAN_ENST00000352105.7_Missense_Mutation_p.P1999S|ACAN_ENST00000561243.1_Missense_Mutation_p.P1999S|ACAN_ENST00000559004.1_Missense_Mutation_p.P1999S NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1999 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) CGGAGAGCCACCAGGTACTCC 0.552000 15 50 0 0 1 0 0 OR13G1 441933 broad.mit.edu 37 1 247836279 247836279 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:247836279C>T ENST00000359688.2 - 1 86 c.65G>A c.(64-66)gGa>gAa p.G22E RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.017) GAAGATAATTCCCTGGAGTTC 0.428000 11 36 0 0 1 0 0 PID1 55022 broad.mit.edu 37 2 229890662 229890662 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:229890662G>A ENST00000392054.3 - 4 772 c.433C>T c.(433-435)Cat>Tat p.H145Y PID1_ENST00000392055.3_Missense_Mutation_p.H114Y|PID1_ENST00000354069.6_Missense_Mutation_p.H147Y|PID1_ENST00000409462.1_Missense_Mutation_p.H65Y|PID1_ENST00000482518.2_Intron NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 147 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) TGGTCGAGATGATGGAGCCAA 0.582000 12 49 0 0 1 0 0 TPX2 22974 broad.mit.edu 37 20 30380610 30380610 + Nonsense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr20:30380610C>T ENST00000340513.4 + 14 2122 c.1594C>T c.(1594-1596)Cga>Tga p.R532* TPX2_ENST00000300403.6_Nonsense_Mutation_p.R496* Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 496 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding p.R496*(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) GAACAGAATTCGAATGCCCAC 0.418000 16 87 0 0 1 0 0 UBN1 29855 broad.mit.edu 37 16 4927108 4927108 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:4927108C>T ENST00000396658.4 + 15 3964 c.3261C>T c.(3259-3261)ggC>ggT p.G1087G UBN1_ENST00000262376.6_Silent_p.G1087G|UBN1_ENST00000590769.1_Silent_p.G1087G|UBN1_ENST00000545171.1_Silent_p.G1087G NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 1087 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 ATGGCCTTGGCCACAGTAAGT 0.577000 44 162 0 0 1 0 0 EVX1 2128 broad.mit.edu 37 7 27285608 27285608 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:27285608C>T ENST00000496902.4 + 3 1274 c.788C>T c.(787-789)gCg>gTg p.A263V EVX1_ENST00000535619.1_Missense_Mutation_p.A81V|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_3'UTR P49640 EVX1_HUMAN even-skipped homeobox 1 263 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1) 14 ATGAGCCATGCGGCGGCCGCG 0.721000 3 51 0 0 1 0 0 OR10R2 343406 broad.mit.edu 37 1 158450088 158450088 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:158450088G>A ENST00000368152.1 + 1 421 c.421G>A c.(421-423)Gat>Aat p.D141N 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 2 141 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) GATGGGTTATGATCGCTATGC 0.488000 54 149 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 173730589 173730589 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:173730589G>A ENST00000506823.1 + 6 1288 c.631G>A c.(631-633)Gga>Aga p.G211R GALNTL6_ENST00000508122.1_Missense_Mutation_p.G194R NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 211 Catalytic subdomain A. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 GAAAAGAGAAGGACTCATCCG 0.512000 26 52 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43436461 43436461 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:43436461C>T ENST00000395891.1 + 7 1209 c.604C>T c.(604-606)Cgg>Tgg p.R202W HECW1_ENST00000453890.1_Missense_Mutation_p.R202W|HECW1_ENST00000471043.1_3'UTR NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 202 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 ACAAGGAAGTCGGAGGCTGAT 0.423000 14 51 0 0 1 0 0 LOC401242 401242 broad.mit.edu 37 6 28829564 28829564 + RNA SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:28829564C>T ENST00000440244.1 - 0 295 NR_033379.1 CATCCTCTTCCCCAGAAAGCC 0.542000 4 5 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8228877 8228877 + Missense_Mutation SNP T T G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:8228877T>G ENST00000539824.1 + 12 1602 c.1228T>G c.(1228-1230)Tgc>Ggc p.C410G SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Missense_Mutation_p.C486G Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 486 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 GCCCTCCTTCTGCTTGGAAGC 0.652000 5 28 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212576880 212576880 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:212576880C>T ENST00000342788.4 - 9 1329 c.1019G>A c.(1018-1020)gGa>gAa p.G340E ERBB4_ENST00000436443.1_Missense_Mutation_p.G340E|ERBB4_ENST00000402597.1_Missense_Mutation_p.G340E NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 340 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CATCAATGATCCTGTGCCAAT 0.363000 TSP Lung(8;0.080) 11 31 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42875847 42875847 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr13:42875847C>T ENST00000025301.2 + 8 3140 c.2965C>T c.(2965-2967)Cct>Tct p.P989S NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 989 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TCCCAAATTTCCTGACTCTCA 0.403000 4 48 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101821823 101821823 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:101821823G>A ENST00000360264.3 + 11 956 c.936G>A c.(934-936)caG>caA p.Q312Q CUX1_ENST00000550008.2_Silent_p.Q301Q|CUX1_ENST00000556210.1_Silent_p.Q301Q|CUX1_ENST00000546411.2_Silent_p.Q301Q|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Silent_p.Q296Q|CUX1_ENST00000437600.4_Silent_p.Q310Q|CUX1_ENST00000549414.2_Silent_p.Q301Q|CUX1_ENST00000292538.4_Silent_p.Q312Q|CUX1_ENST00000425244.2_Silent_p.Q266Q|CUX1_ENST00000393824.3_Silent_p.Q273Q|CUX1_ENST00000292535.7_Silent_p.Q301Q NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 301 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 AGATCGCACAGCTGGTGGAGG 0.597000 5 10 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219294026 219294026 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:219294026G>A ENST00000248444.5 + 7 674 c.586G>A c.(586-588)Gag>Aag p.E196K VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Missense_Mutation_p.E196K NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 196 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCTGGCCAAGGAGATCCGAGA 0.617000 23 73 0 0 1 0 0 DEPDC1 55635 broad.mit.edu 37 1 68947832 68947832 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:68947832G>A ENST00000456315.2 - 8 1773 c.1659C>T c.(1657-1659)ctC>ctT p.L553L DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 553 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) TAGACTCTCCGAGTTCACTTT 0.388000 24 126 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122411236 122411236 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:122411236C>T ENST00000474629.2 + 4 710 c.444C>T c.(442-444)tcC>tcT p.S148S NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) AAAATATTTCCTCTTTGGTGG 0.378000 4 44 0 0 1 0 0 IL18 3606 broad.mit.edu 37 11 112014327 112014327 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:112014327C>T ENST00000280357.7 - 6 793 c.574G>A c.(574-576)Gaa>Aaa p.E192K SDHD_ENST00000532699.1_Intron|IL18_ENST00000528832.1_Missense_Mutation_p.E192K|IL18_ENST00000524595.1_Missense_Mutation_p.E188K NM_001562.3 NP_001553.1 Q14116 IL18_HUMAN interleukin 18 (interferon-gamma-inducing factor) 192 angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response cytosol|extracellular space cytokine activity|signal transducer activity all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055) AGCTAGTCTTCGTTTTGAACA 0.443000 3 8 0 0 1 0 0 TAS2R46 259292 broad.mit.edu 37 12 11214052 11214052 + Nonsense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:11214052C>T ENST00000533467.1 - 1 841 c.842G>A c.(841-843)tGg>tAg p.W281* TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176887.2 NP_795368.2 P59540 T2R46_HUMAN taste receptor, type 2, member 46 281 sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) CTTGTTTCCCCAAATCAGGAT 0.428000 20 169 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149152686 149152686 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:149152686G>A ENST00000247930.4 - 2 751 c.428C>T c.(427-429)tCc>tTc p.S143F NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) AACTGTTGGGGAAAGGGTCAG 0.587000 58 209 0 0 1 0 0 BAAT 570 broad.mit.edu 37 9 104125033 104125033 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:104125033G>A ENST00000259407.2 - 4 1042 c.934C>T c.(934-936)Cct>Tct p.P312S BAAT_ENST00000395051.3_Missense_Mutation_p.P312S NM_001127610.1|NM_001701.3 NP_001121082.1|NP_001692.1 Q14032 BAAT_HUMAN bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) 312 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) TCTTCAATAGGAAACAAATAT 0.453000 9 79 0 0 1 0 0 PROM2 150696 broad.mit.edu 37 2 95952587 95952587 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:95952587C>T ENST00000317620.9 + 18 2209 c.2076C>T c.(2074-2076)tcC>tcT p.S692S PROM2_ENST00000403131.2_Silent_p.S692S|PROM2_ENST00000317668.4_Silent_p.S692S|PROM2_ENST00000542147.1_Silent_p.S643S NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 692 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane p.S692S(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 CCCTGGAGTCCTCTGCCCCGA 0.627000 19 42 0 0 1 0 0 DHX40 79665 broad.mit.edu 37 17 57682846 57682846 + Missense_Mutation SNP C C A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:57682846C>A ENST00000451169.2 + 20 2226 c.1867C>A c.(1867-1869)Cat>Aat p.H623N DHX40_ENST00000251241.4_Missense_Mutation_p.H671N|DHX40_ENST00000425628.3_Missense_Mutation_p.H594N Q8IX18 DHX40_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 40 671 ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(7)|large_intestine(6)|lung(6)|prostate(1) 20 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GATCATTTTTCATGAGGTATT 0.363000 10 37 0.000673444 0.000678208 1 1 0 PTH1R 5745 broad.mit.edu 37 3 46939361 46939361 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:46939361G>A ENST00000313049.5 + 4 533 c.330G>A c.(328-330)ccG>ccA p.P110P PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000430002.2_Silent_p.P110P|PTH1R_ENST00000418619.1_Silent_p.P110P|PTH1R_ENST00000449590.1_Silent_p.P110P Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 110 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 CCTGTCTGCCGGAATGGGACC 0.572000 8 30 0 0 1 0 0 KLHL2 11275 broad.mit.edu 37 4 166218843 166218843 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:166218843G>A ENST00000226725.6 + 7 996 c.737G>A c.(736-738)cGg>cAg p.R246Q KLHL2_ENST00000506761.1_Missense_Mutation_p.R80Q|KLHL2_ENST00000514860.1_Missense_Mutation_p.R250Q|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000421009.2_Missense_Mutation_p.R149Q|KLHL2_ENST00000538127.1_Missense_Mutation_p.R158Q NM_007246.3 NP_009177.3 O95198 KLHL2_HUMAN kelch-like family member 2 246 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) GAACATGTACGGTTACCTTTG 0.428000 15 41 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196963300 196963300 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:196963300C>T ENST00000367414.5 + 4 649 c.593C>T c.(592-594)tCc>tTc p.S198F CFHR5_ENST00000256785.4_Missense_Mutation_p.S174F NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 174 Sushi 3. complement activation, alternative pathway extracellular region p.S174Y(1) NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 TTGAAATTCTCCTGCAGAAAA 0.353000 24 92 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62212525 62212525 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:62212525G>A ENST00000519846.1 + 3 611 c.139G>A c.(139-141)Gat>Aat p.D47N CLVS1_ENST00000325897.4_Missense_Mutation_p.D47N|CLVS1_ENST00000518592.1_Intron Q8IUQ0 CLVS1_HUMAN clavesin 1 47 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TGAAAACCCCGATGTTTTACA 0.448000 11 48 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36486466 36486466 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:36486466C>T ENST00000342292.4 - 11 3006 c.2986G>A c.(2986-2988)Gag>Aag p.E996K NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 996 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TCTGCGTTCTCCCAGGGGCAG 0.637000 18 64 0 0 1 0 0 MSRB3 253827 broad.mit.edu 37 12 65847587 65847587 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:65847587G>A ENST00000308259.5 + 6 646 c.372G>A c.(370-372)gtG>gtA p.V124V MSRB3_ENST00000535664.1_Silent_p.V124V|MSRB3_ENST00000355192.3_Silent_p.V131V|MSRB3_ENST00000540804.1_Silent_p.V131V NM_001031679.2|NM_001193460.1 NP_001026849.1|NP_001180389.1 Q8IXL7 MSRB3_HUMAN methionine sulfoxide reductase B3 131 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) TGCACAGGGTGGAAACAAGCT 0.468000 3 49 0 0 1 0 0 PARP3 10039 broad.mit.edu 37 3 51979163 51979163 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:51979163C>T ENST00000417220.2 + 7 1272 c.784C>T c.(784-786)Ccg>Tcg p.P262S PARP3_ENST00000431474.1_Missense_Mutation_p.P262S|PARP3_ENST00000398755.3_Missense_Mutation_p.P269S Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 262 PARP alpha-helical. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CACCGTCATCCCGCACAACTT 0.642000 24 109 0 0 1 0 0 REG3G 130120 broad.mit.edu 37 2 79255393 79255393 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:79255393C>T ENST00000272324.5 + 6 703 c.519C>T c.(517-519)ttC>ttT p.F173F REG3G_ENST00000393897.2_Silent_p.F173F|REG3G_ENST00000409471.1_Silent_p.F127F NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 173 acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TCTGCAAGTTCAAGGACTAGG 0.478000 13 57 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71532635 71532635 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:71532635G>A ENST00000265382.3 + 9 1248 c.943G>A c.(943-945)Ggg>Agg p.G315R PIP5K1B_ENST00000541509.1_Missense_Mutation_p.G315R NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 315 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) CCAGGGTCCAGGGAAATCTGG 0.527000 13 55 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91781717 91781717 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:91781717C>T ENST00000370425.3 - 27 3021 c.2923G>A c.(2923-2925)Gga>Aga p.G975R HFM1_ENST00000370424.3_Missense_Mutation_p.G654R|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.G207R NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 975 SEC63. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) ATCTGGGTTCCAAAGGGGGGA 0.254000 9 42 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230683171 230683171 + Missense_Mutation SNP A A G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:230683171A>G ENST00000283943.5 - 8 1542 c.1364T>C c.(1363-1365)cTt>cCt p.L455P TRIP12_ENST00000389045.3_Missense_Mutation_p.L158P|TRIP12_ENST00000389044.4_Missense_Mutation_p.L503P|TRIP12_ENST00000543084.1_Intron NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 455 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) AACTGCCTGAAGCTGTTGACT 0.398000 12 106 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 96706553 96706553 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:96706553G>A ENST00000389672.5 + 3 868 c.830G>A c.(829-831)gGa>gAa p.G277E EPHA6_ENST00000470610.2_Missense_Mutation_p.G277E|EPHA6_ENST00000542517.1_Missense_Mutation_p.G183E NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 182 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GAAAGGAAAGGATTTTATCTG 0.458000 44 204 0 0 1 0 0 CEBPE 1053 broad.mit.edu 37 14 23588207 23588207 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:23588207C>T ENST00000206513.5 - 1 618 c.94G>A c.(94-96)Gac>Aac p.D32N NM_001805.3 NP_001796.2 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein (C/EBP), epsilon 32 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) TCACACATGTCCCCTAGCTCC 0.647000 24 61 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057378 9057378 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:9057378G>A ENST00000397910.4 - 3 30271 c.30068C>T c.(30067-30069)tCt>tTt p.S10023F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10025 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGACAACAGAGAAGATGAAGA 0.438000 15 37 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804351 27804351 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:27804351C>T ENST00000408964.2 + 1 4963 c.4912C>T c.(4912-4914)Cat>Tat p.H1638Y NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1638 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) TCAGAGGAGCCATCGCGGTCC 0.572000 35 144 0 0 1 0 0 SLC6A7 6534 broad.mit.edu 37 5 149584095 149584095 + Splice_Site SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:149584095G>A ENST00000230671.2 + 11 1704 c.1332_splice c.e11-1 p.G445_splice SLC6A7_ENST00000524041.1_Splice_Site_p.G445_splice NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 445 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) TGTGTTTTAGGGGGGCATGTA 0.582000 15 72 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72267028 72267028 + Missense_Mutation SNP T T C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:72267028T>C ENST00000340726.3 - 3 752 c.113A>G c.(112-114)aAt>aGt p.N38S EYA1_ENST00000419131.1_Missense_Mutation_p.N38S|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000388740.3_Intron|EYA1_ENST00000303824.7_Missense_Mutation_p.N38S|EYA1_ENST00000388742.4_Missense_Mutation_p.N38S|EYA1_ENST00000388743.2_Missense_Mutation_p.N38S NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 38 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TTCGGTGCCATTGGGAGTCAT 0.443000 73 103 0 0 1 0 0 MUS81 80198 broad.mit.edu 37 11 65631190 65631190 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:65631190C>T ENST00000308110.4 + 9 1308 c.959C>T c.(958-960)cCa>cTa p.P320L MUS81_ENST00000533035.1_Missense_Mutation_p.P245L NM_025128.4 NP_079404.3 Q96NY9 MUS81_HUMAN MUS81 structure-specific endonuclease subunit 320 ERCC4. DNA recombination|DNA repair nucleolus 3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 13 READ - Rectum adenocarcinoma(159;0.166) CCTAGAGACCCAGGTGAAGGG 0.632000 Homologous recombination 19 56 0 0 1 0 0 CDHR3 222256 broad.mit.edu 37 7 105671242 105671242 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:105671242C>T ENST00000542731.1 + 18 2417 c.2309C>T c.(2308-2310)aCt>aTt p.T770I CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.T682I|CDHR3_ENST00000343407.5_Silent_p.N272N|CDHR3_ENST00000317716.9_Missense_Mutation_p.T770I Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 770 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 CCTTAGGAAACTATCCAGATG 0.418000 4 15 0 0 1 0 0 DARS2 55157 broad.mit.edu 37 1 173794477 173794477 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:173794477C>T ENST00000361951.4 + 1 837 c.110C>T c.(109-111)tCa>tTa p.S37L DARS2_ENST00000239457.5_5'UTR NM_018122.4 NP_060592.2 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial 37 tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 30 L-Aspartic Acid(DB00128) TTGCAGAGTTCACAGAGGAGA 0.458000 15 57 0 0 1 0 0 IL36B 27177 broad.mit.edu 37 2 113785528 113785528 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:113785528C>T ENST00000327407.2 - 5 533 c.426G>A c.(424-426)gaG>gaA p.E142E IL36B_ENST00000259213.4_Intron NM_173178.1 NP_775270.1 Q9NZH7 IL36B_HUMAN interleukin 36, beta 88 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 TTATGCCTCTCTCCTTGGTGA 0.468000 9 34 0 0 1 0 0 ZNF683 257101 broad.mit.edu 37 1 26694126 26694126 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:26694126C>T ENST00000436292.1 - 3 397 c.277G>A c.(277-279)Ggc>Agc p.G93S ZNF683_ENST00000403843.1_Missense_Mutation_p.G93S|ZNF683_ENST00000374204.1_Missense_Mutation_p.G93S|ZNF683_ENST00000349618.3_Missense_Mutation_p.G93S Q8IZ20 ZN683_HUMAN zinc finger protein 683 93 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) AGGTCTGTGCCCAGGGGTGCC 0.692000 9 21 0 0 1 0 0 SLC30A10 55532 broad.mit.edu 37 1 220089196 220089196 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:220089196G>A ENST00000366926.3 - 4 1214 c.1053C>T c.(1051-1053)atC>atT p.I351I SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Silent_p.I106I NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 351 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) TAGGATACTTGATGTGCAGGG 0.433000 29 90 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47351382 47351382 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:47351382C>T ENST00000426342.1 - 11 2133 c.1387G>A c.(1387-1389)Ggg>Agg p.G463R MDGA2_ENST00000439988.2_Missense_Mutation_p.G692R|MDGA2_ENST00000399232.2_Missense_Mutation_p.G761R|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000357362.3_Missense_Mutation_p.G463R NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 692 Ig-like 5. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TGAATATTCCCATTTATTTTA 0.378000 5 31 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113374558 113374558 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:113374558G>A ENST00000316407.4 - 7 6381 c.5971C>T c.(5971-5973)Cgt>Tgt p.R1991C KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.R1991C NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1991 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 TCAGGCTGACGAATTTTGGAA 0.478000 7 18 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022473 51022473 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:51022473C>T ENST00000599957.1 - 3 694 c.497G>A c.(496-498)cGg>cAg p.R166Q LRRC4B_ENST00000389201.3_Missense_Mutation_p.R166Q Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 166 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GGGGTTGTTCCGCAGCCAGAG 0.647000 21 66 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19488830 19488830 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:19488830C>T ENST00000396229.2 + 13 2908 c.2159C>T c.(2158-2160)tCt>tTt p.S720F TMC5_ENST00000381414.4_Missense_Mutation_p.S720F|TMC5_ENST00000561503.1_Missense_Mutation_p.S361F|TMC5_ENST00000542583.2_Missense_Mutation_p.S720F|TMC5_ENST00000219821.5_Missense_Mutation_p.S474F|TMC5_ENST00000541464.1_Missense_Mutation_p.S668F|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000564959.1_Missense_Mutation_p.S403F NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 720 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GTGGCCCTGTCTGGTGAAGAG 0.413000 19 74 0 0 1 0 0 DMWD 1762 broad.mit.edu 37 19 46289231 46289231 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:46289231G>A ENST00000270223.6 - 3 1568 c.1523C>T c.(1522-1524)cCg>cTg p.P508L AC011530.4_ENST00000593999.1_Missense_Mutation_p.R1W|DMWD_ENST00000377735.3_Missense_Mutation_p.P508L NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 508 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) CGCCACACCCGGGCCGCCCGC 0.726000 14 23 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21862229 21862229 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:21862229G>A ENST00000399982.2 - 31 5789 c.5725C>T c.(5725-5727)Cgg>Tgg p.R1909W CHD8_ENST00000557364.1_Missense_Mutation_p.R1909W|CHD8_ENST00000430710.3_Missense_Mutation_p.R1630W NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1909 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) AATGCCAGCCGATCTTCCAAA 0.562000 12 45 0 0 1 0 0 ZNF550 162972 broad.mit.edu 37 19 58059144 58059144 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:58059144G>A ENST00000325134.5 - 3 528 c.372C>T c.(370-372)agC>agT p.S124S ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF550_ENST00000506609.2_Silent_p.S115S|ZNF550_ENST00000457177.1_Silent_p.S156S Q7Z398 ZN550_HUMAN zinc finger protein 550 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 7 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CACCTTCAAGGCTCACTTTCC 0.502000 70 283 0 0 1 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31485177 31485177 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:31485177C>T ENST00000394863.3 + 4 334 c.204C>T c.(202-204)tcC>tcT p.S68S TGFB1I1_ENST00000567607.1_Silent_p.S51S|TGFB1I1_ENST00000394858.2_Silent_p.S51S|TGFB1I1_ENST00000361773.3_Silent_p.S51S NM_001042454.2 NP_001035919.1 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced transcript 1 68 Interaction with PTK2B.|Transcription activation (By similarity). androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding lung(8)|upper_aerodigestive_tract(1) 9 AGCCTCGGTCCCCAAAGCCTG 0.617000 26 94 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19741117 19741117 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:19741117G>A ENST00000203556.4 - 21 2705 c.2568C>T c.(2566-2568)ctC>ctT p.L856L GMIP_ENST00000587238.1_Silent_p.L830L|GMIP_ENST00000445806.2_Silent_p.L827L NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 856 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 GTGTCCCCAGGAGTGAGTCCT 0.612000 17 57 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200954086 200954086 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:200954086C>T ENST00000332129.2 - 27 4020 c.3704G>A c.(3703-3705)gGa>gAa p.G1235E KIF21B_ENST00000461742.2_Missense_Mutation_p.G1235E|KIF21B_ENST00000360529.5_Missense_Mutation_p.G1235E|KIF21B_ENST00000422435.2_Missense_Mutation_p.G1235E NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1235 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GGGTGTGAATCCCACATCTGT 0.612000 10 39 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51766660 51766660 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:51766660G>A ENST00000251076.5 - 28 7378 c.7091C>T c.(7090-7092)tCc>tTc p.S2364F RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.S1728F|DMXL2_ENST00000543779.2_Missense_Mutation_p.S2365F NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2364 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TTCACTGGAGGAATTTGTGGC 0.418000 13 22 0 0 1 0 0 SLC39A4 55630 broad.mit.edu 37 8 145638194 145638194 + Nonsense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:145638194C>T ENST00000276833.5 - 10 1992 c.1689G>A c.(1687-1689)tgG>tgA p.W563* SLC39A4_ENST00000301305.3_Nonsense_Mutation_p.W588*|SLC39A4_ENST00000531013.1_5'UTR NM_017767.2 NP_060237.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 588 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CTGCCAGGATCCAGGCCTCGC 0.667000 19 37 0 0 1 0 0 SPSB1 80176 broad.mit.edu 37 1 9416313 9416313 + Missense_Mutation SNP C C A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:9416313C>A ENST00000328089.6 + 2 704 c.363C>A c.(361-363)gaC>gaA p.D121E SPSB1_ENST00000357898.3_Missense_Mutation_p.D121E|SPSB1_ENST00000377399.2_Missense_Mutation_p.D121E NM_025106.3 NP_079382.2 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box containing 1 121 B30.2/SPRY. intracellular signal transduction cytoplasm breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2) 13 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) CGACGGCAGACGCCCCCCTGC 0.662000 17 66 6.94344e-10 7.05493e-10 1 1 0 SLC5A2 6524 broad.mit.edu 37 16 31497532 31497532 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:31497532G>A ENST00000330498.3 + 5 529 c.510G>A c.(508-510)ctG>ctA p.L170L NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 170 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 AGCAGGCTCTGGGCTGGAACA 0.602000 20 62 0 0 1 0 0 ZNF106 64397 broad.mit.edu 37 15 42717175 42717175 + Missense_Mutation SNP T T C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:42717175T>C ENST00000263805.4 - 13 5304 c.4978A>G c.(4978-4980)Agc>Ggc p.S1660G ZNF106_ENST00000565380.1_Missense_Mutation_p.S888G|ZNF106_ENST00000565611.1_Missense_Mutation_p.S845G NM_022473.1 NP_071918.1 zinc finger protein 106 GCAAGACAGCTGACTGCCCGA 0.483000 7 54 0 0 1 0 0 IDO2 169355 broad.mit.edu 37 8 39847324 39847324 + Nonsense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:39847324C>T ENST00000502986.2 + 8 915 c.673C>T c.(673-675)Cag>Tag p.Q225* RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Nonsense_Mutation_p.Q212* NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 212 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 ACTGTCTATTCAGGACATCAC 0.562000 OREG0018729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 16 0 0 1 0 0 HHATL 57467 broad.mit.edu 37 3 42742249 42742249 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:42742249C>T ENST00000441594.1 - 2 331 c.70G>A c.(70-72)Gcc>Acc p.A24T HHATL_ENST00000310417.5_Missense_Mutation_p.A24T NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 24 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) CCAGCATAGGCCAGGGCCCCA 0.652000 12 36 0 0 1 0 0 CDKAL1 54901 broad.mit.edu 37 6 20649538 20649538 + Missense_Mutation SNP G G T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:20649538G>T ENST00000274695.4 + 5 468 c.301G>T c.(301-303)Gca>Tca p.A101S CDKAL1_ENST00000378610.1_Missense_Mutation_p.A101S|CDKAL1_ENST00000378624.4_Missense_Mutation_p.A31S NM_017774.3 NP_060244.2 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 101 MTTase N-terminal. RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) TGCATCCGATGCAGATTTATG 0.348000 11 40 0.0809354 0.0812206 1 1 0 SLC25A23 79085 broad.mit.edu 37 19 6454678 6454678 + Translation_Start_Site SNP T T A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:6454678T>A ENST00000414491.2 - 0 3 SLC25A23_ENST00000301454.4_Missense_Mutation_p.Q178H|SLC25A23_ENST00000334510.5_Missense_Mutation_p.Q178H Q9BV35 SCMC3_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1) 17 TCAGCTTCTCTTGCTTTGAGA 0.612000 11 38 0 0 1 0 0 CENPH 64946 broad.mit.edu 37 5 68504116 68504116 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:68504116G>A ENST00000283006.2 + 8 668 c.581G>A c.(580-582)aGg>aAg p.R194K CENPH_ENST00000515001.1_Missense_Mutation_p.R175K NM_022909.3 NP_075060.1 Q9H3R5 CENPH_HUMAN centromere protein H 194 cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm kinetochore binding|protein binding kidney(15)|large_intestine(2)|lung(3) 20 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178) AACTCAGAGAGGATAAAGATC 0.313000 19 48 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23233410 23233410 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:23233410C>T ENST00000400191.3 + 11 2114 c.2096C>T c.(2095-2097)aCc>aTc p.T699I EPHB2_ENST00000374632.3_Missense_Mutation_p.T700I|EPHB2_ENST00000374630.3_Missense_Mutation_p.T699I|EPHB2_ENST00000374627.1_Missense_Mutation_p.T694I NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 699 Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) ATGATCATCACCGAGTTCATG 0.577000 6 23 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20345308 20345308 + Silent SNP A A C rs150472419 TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:20345308A>C ENST00000298642.2 + 1 918 c.882A>C c.(880-882)gtA>gtC p.V294V NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCAAGAAGTAAAGATAGCCA 0.353000 9 49 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156845885 156845885 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:156845885C>T ENST00000368196.3 + 12 1617 c.1497C>T c.(1495-1497)atC>atT p.I499I NTRK1_ENST00000524377.1_Silent_p.I505I|NTRK1_ENST00000392302.2_Silent_p.I469I|NTRK1_ENST00000358660.3_Silent_p.I502I NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 505 activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) TTCACCACATCAAGCGCCGGG 0.627000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 22 96 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103363592 103363592 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:103363592G>A ENST00000428762.1 - 8 959 c.800C>T c.(799-801)tCc>tTc p.S267F RELN_ENST00000343529.5_Missense_Mutation_p.S267F|RELN_ENST00000424685.2_Missense_Mutation_p.S267F NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 267 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTTACCAATGGAAAATTGGAG 0.333000 8 27 0 0 1 0 0 REXO1 57455 broad.mit.edu 37 19 1827472 1827472 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:1827472G>A ENST00000170168.4 - 2 1410 c.1316C>T c.(1315-1317)tCg>tTg p.S439L NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 439 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGAGTGGCCGAAGATGGCTT 0.731000 7 30 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234444846 234444846 + Splice_Site SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:234444846G>A ENST00000366618.3 + 4 753 c.e4-1 SLC35F3_ENST00000366617.3_Splice_Site NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) CCTTGTTTTAGGGAATGCTGT 0.378000 5 33 0 0 1 0 0 ZNF136 7695 broad.mit.edu 37 19 12298667 12298667 + Nonsense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:12298667C>T ENST00000343979.4 + 4 1614 c.1474C>T c.(1474-1476)Cga>Tga p.R492* ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R426* NM_003437.3 NP_003428.1 P52737 ZN136_HUMAN zinc finger protein 136 492 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 18 TAGTTCCTTTCGACTACATGA 0.423000 9 31 0 0 1 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29909286 29909286 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:29909286C>T ENST00000308713.5 - 2 626 c.99G>A c.(97-99)gaG>gaA p.E33E SEZ6L2_ENST00000350527.3_Silent_p.E33E|SEZ6L2_ENST00000346932.5_Silent_p.E33E|SEZ6L2_ENST00000537485.1_Intron NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 33 endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GCAATATCTCCTCCTCCTTCA 0.577000 10 42 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119968710 119968710 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:119968710G>A ENST00000327554.2 + 13 1858 c.1393G>A c.(1393-1395)Gat>Aat p.D465N RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 465 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) ACTGCCAGAGGATCTAAAGAA 0.493000 17 38 0 0 1 0 0 DTL 51514 broad.mit.edu 37 1 212241645 212241645 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:212241645C>T ENST00000366991.4 + 9 1107 c.793C>T c.(793-795)Cca>Tca p.P265S DTL_ENST00000542077.1_Missense_Mutation_p.P223S|DTL_ENST00000475419.1_Intron NM_016448.2 NP_057532.2 Q9NZJ0 DTL_HUMAN denticleless E3 ubiquitin protein ligase homolog (Drosophila) 265 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) TTTCCTGTACCCAGGTAGCAG 0.348000 15 55 0 0 1 0 0 SNX25 83891 broad.mit.edu 37 4 186272751 186272751 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:186272751C>T ENST00000504273.1 + 14 2256 c.1962C>T c.(1960-1962)ttC>ttT p.F654F SNX25_ENST00000512853.1_Intron|SNX25_ENST00000264694.8_Silent_p.F654F Q9H3E2 SNX25_HUMAN sorting nexin 25 654 cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) GCGACTTCTTCTCCCACCAGG 0.458000 10 38 0 0 1 0 0 MED24 9862 broad.mit.edu 37 17 38192010 38192010 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:38192010C>T ENST00000394126.1 - 4 784 c.366G>A c.(364-366)ttG>ttA p.L122L MED24_ENST00000501516.3_Silent_p.L97L|MED24_ENST00000394128.2_Silent_p.L97L|MED24_ENST00000394127.2_Silent_p.L84L|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000356271.3_Silent_p.L84L O75448 MED24_HUMAN mediator complex subunit 24 97 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) TGATGTCCAGCAATGCCTGGA 0.527000 10 35 0 0 1 0 0 EVC 2121 broad.mit.edu 37 4 5810031 5810031 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:5810031G>A ENST00000382674.2 + 18 2849 c.2665G>A c.(2665-2667)Gcc>Acc p.A889T EVC_ENST00000264956.6_Missense_Mutation_p.A889T P57679 EVC_HUMAN Ellis van Creveld syndrome 889 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) CCTTCTGGAAGCCCAGCTGGA 0.567000 6 41 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43625533 43625533 + RNA SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:43625533C>T ENST00000586348.1 + 0 45 TGGTAAGCTCCAGGTCCAGAG 0.527000 14 100 0 0 1 0 0 ENTHD2 146705 broad.mit.edu 37 17 79207828 79207828 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:79207828G>A ENST00000300714.3 - 5 385 c.328C>T c.(328-330)Cct>Tct p.P110S ENTHD2_ENST00000374769.2_5'UTR NM_144679.2 NP_653280.1 ENTH domain containing 2 CCGTGCAGAGGATCTGGGGGC 0.677000 3 10 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124352581 124352581 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:124352581G>A ENST00000409039.3 + 42 7105 c.7080G>A c.(7078-7080)atG>atA p.M2360I NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2360 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ATGGAAGGATGAAATTTGACG 0.502000 4 23 0 0 1 0 0 PTPN22 26191 broad.mit.edu 37 1 114372236 114372236 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:114372236C>T ENST00000359785.5 - 18 2363 c.2228G>A c.(2227-2229)gGa>gAa p.G743E PTPN22_ENST00000528414.1_Missense_Mutation_p.G688E|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.G743E|PTPN22_ENST00000538253.1_Missense_Mutation_p.G499E|PTPN22_ENST00000525799.1_Missense_Mutation_p.G616E NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051.3 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 743 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAAACTTTTTCCAGGAGTCTT 0.393000 22 68 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176734809 176734809 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:176734809C>T ENST00000367662.3 + 15 5323 c.4159C>T c.(4159-4161)Cat>Tat p.H1387Y NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1387 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CAGCTGTATCCATCGGCCCTG 0.507000 28 87 0 0 1 0 0 MACC1 346389 broad.mit.edu 37 7 20198534 20198534 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:20198534C>T ENST00000400331.5 - 5 1758 c.1450G>A c.(1450-1452)Gat>Aat p.D484N MACC1_ENST00000332878.4_Missense_Mutation_p.D484N|MACC1_ENST00000589011.1_Missense_Mutation_p.D484N NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 484 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 ACACAAAAATCAAACAAGTGC 0.388000 25 47 0 0 1 0 0 HSFY1P1 27437 broad.mit.edu 37 22 17309722 17309722 + RNA SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr22:17309722C>T ENST00000425038.1 + 0 878 NR_003607.1 AAGTGGTTTCCCTCCTCTTCC 0.353000 3 6 0 0 1 0 0 C16orf58 64755 broad.mit.edu 37 16 31510692 31510692 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:31510692G>A ENST00000327237.2 - 5 570 c.531C>T c.(529-531)ttC>ttT p.F177F C16orf58_ENST00000567994.1_Silent_p.F132F|C16orf58_ENST00000570164.1_Silent_p.F177F|C16orf58_ENST00000430477.2_Silent_p.F35F Q96GQ5 CP058_HUMAN chromosome 16 open reading frame 58 177 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1) 14 TAATCTCAAGGAACATGGCTA 0.527000 19 53 0 0 1 0 0 SCNN1G 6340 broad.mit.edu 37 16 23224034 23224034 + Nonsense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:23224034C>T ENST00000300061.2 + 9 1473 c.1330C>T c.(1330-1332)Cag>Tag p.Q444* CTC-391G2.1_ENST00000563471.1_RNA NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 444 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) AGCCTTTGTCCAGGAAGAGCT 0.592000 20 63 0 0 1 0 0 CYP2B6 1555 broad.mit.edu 37 19 41518329 41518329 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:41518329C>T ENST00000324071.4 + 7 1098 c.1091C>T c.(1090-1092)cCc>cTc p.P364L CYP2B6_ENST00000593831.1_Missense_Mutation_p.P128L|CYP2B6_ENST00000330446.5_Missense_Mutation_p.P164L NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 364 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) GACCTTCTCCCCATGGGTGTG 0.552000 17 47 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48284285 48284285 + Missense_Mutation SNP T T A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:48284285T>A ENST00000435803.1 + 11 1399 c.1375T>A c.(1375-1377)Tta>Ata p.L459I NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 459 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AGCTCAGAATTTACATTTTGT 0.428000 22 59 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75983079 75983079 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:75983079G>A ENST00000308508.5 - 3 419 c.327C>T c.(325-327)ccC>ccT p.P109P NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 109 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CCACAGTGTGGGGGATGGAGT 0.607000 28 122 0 0 1 0 0 RNPEP 6051 broad.mit.edu 37 1 201958123 201958123 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:201958123C>T ENST00000295640.4 + 2 582 c.539C>T c.(538-540)cCt>cTt p.P180L RNPEP_ENST00000367286.3_Missense_Mutation_p.P180L|RNPEP_ENST00000471105.1_3'UTR NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) 180 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) GCCTTCTTCCCTTGCTTCGAC 0.507000 34 98 0 0 1 0 0 PANK1 53354 broad.mit.edu 37 10 91371713 91371713 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr10:91371713C>T ENST00000307534.4 - 2 951 c.796G>A c.(796-798)Gaa>Aaa p.E266K PANK1_ENST00000322191.6_Missense_Mutation_p.E41K|PANK1_ENST00000342512.3_Missense_Mutation_p.E41K|PANK1_ENST00000371774.2_Missense_Mutation_p.E68K NM_148977.2 NP_683878.1 Q8TE04 PANK1_HUMAN pantothenate kinase 1 266 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 11 Bezafibrate(DB01393) TTCTCCACTTCCTCTTGCTCC 0.473000 14 54 0 0 1 0 0 FKBP15 23307 broad.mit.edu 37 9 115931683 115931683 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:115931683G>A ENST00000238256.3 - 26 3423 c.3306C>T c.(3304-3306)ccC>ccT p.P1102P NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 1102 endocytosis|protein folding axon|early endosome actin binding p.P1102P(1)|p.P1127P(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 CCCCCTCCTCGGGGTCTGAAG 0.577000 9 77 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78346417 78346417 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:78346417G>A ENST00000409931.3 - 2 544 c.473C>T c.(472-474)cCc>cTc p.P158L TBC1D2B_ENST00000300584.3_Missense_Mutation_p.P158L Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 158 intracellular protein binding|Rab GTPase activator activity breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 AAAATCCCCGGGAGTTGGAGA 0.473000 42 93 0 0 1 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40665946 40665946 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:40665946C>T ENST00000343619.4 + 20 2321 c.2198C>T c.(2197-2199)tCc>tTc p.S733F ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.S690F|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.S733F|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.S379F|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.S684F|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.S727F|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.S734F NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 733 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) GGCTGCATCTCCAACACTGCC 0.587000 36 132 0 0 1 0 0 ART1 417 broad.mit.edu 37 11 3680978 3680978 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:3680978G>A ENST00000250693.1 + 3 330 c.229G>A c.(229-231)Gac>Aac p.D77N NM_004314.2 NP_004305.2 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 77 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1) 8 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) GGTGTATGCAGACAGCTGGAC 0.632000 5 34 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58565086 58565086 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:58565086G>A ENST00000282326.1 + 6 1141 c.894G>A c.(892-894)ggG>ggA p.G298G NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 298 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCGACTGTGGGATGGTCTTCA 0.627000 29 65 0 0 1 0 0 ZNF317 57693 broad.mit.edu 37 19 9271514 9271514 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:9271514C>T ENST00000247956.6 + 7 1498 c.1193C>T c.(1192-1194)tCc>tTc p.S398F ZNF317_ENST00000360385.3_Missense_Mutation_p.S366F NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 TGCGGGAAATCCTTTGGCGAT 0.512000 6 22 0 0 1 0 0 RBP2 5948 broad.mit.edu 37 3 139180954 139180954 + Splice_Site SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:139180954C>T ENST00000232217.2 - 2 308 c.252_splice c.e2+1 p.K84_splice RP11-319G6.1_ENST00000515247.1_RNA NM_004164.2 NP_004155.2 P50120 RET2_HUMAN retinol binding protein 2, cellular 84 epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Vitamin A(DB00162) CGGTCAGTACCTTAACATGCC 0.428000 19 55 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38591780 38591780 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:38591780C>T ENST00000222345.6 + 6 2452 c.1943C>T c.(1942-1944)cCc>cTc p.P648L NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 648 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GAGGCCGGCCCCGCCTTTGAG 0.607000 6 15 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144918898 144918898 + Nonsense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:144918898G>A ENST00000529945.1 - 6 2216 c.1777C>T c.(1777-1779)Cga>Tga p.R593* PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R496*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.R567*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R567*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000479408.2_Nonsense_Mutation_p.R217*|PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.R593* Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 430 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCCTGGGTTCGAATCTCATTG 0.438000 T PDGFRB MPD 51 470 0 0 1 0 0 CRTC3 64784 broad.mit.edu 37 15 91083279 91083279 + Missense_Mutation SNP T T A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:91083279T>A ENST00000420329.2 + 2 288 c.141T>A c.(139-141)ttT>ttA p.F47L CRTC3_ENST00000560098.1_Missense_Mutation_p.F47L|CRTC3_ENST00000268184.6_Missense_Mutation_p.F47L|CRTC3_ENST00000558619.1_3'UTR NM_001042574.2|NM_022769.4 NP_001036039.1|NP_073606.3 Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 47 Required for interaction with HTLV-1 TAX. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) AGGTTCAATTTCAGAAGCTTC 0.453000 T MAML2 salivary gland mucoepidermoid 12 46 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143958199 143958199 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:143958199G>A ENST00000292427.4 - 4 730 c.698C>T c.(697-699)tCc>tTc p.S233F CYP11B1_ENST00000377675.3_Missense_Mutation_p.S304F|CYP11B1_ENST00000517471.1_Missense_Mutation_p.S233F NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 233 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) CTGGACGGTGGATTTGAACAT 0.587000 Familial Hyperaldosteronism type I 11 32 0 0 1 0 0 CEP170 9859 broad.mit.edu 37 1 243328270 243328270 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:243328270C>T ENST00000366542.1 - 13 3043 c.2992G>A c.(2992-2994)Gat>Aat p.D998N RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.D900N|CEP170_ENST00000366543.1_Missense_Mutation_p.D900N NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 998 Targeting to microtubules. centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) GAACCCACATCTGTGGAACGA 0.413000 4 57 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71650896 71650896 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:71650896C>T ENST00000409544.1 + 22 4882 c.4252C>T c.(4252-4254)Cca>Tca p.P1418S ZNF638_ENST00000409407.1_Missense_Mutation_p.P358S|ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.P1418S NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1418 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 GAAAAGTTTTCCAAAATCTGT 0.398000 11 28 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82402461 82402461 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:82402461C>T ENST00000370728.1 + 7 982 c.337C>T c.(337-339)Cct>Tct p.P113S LPHN2_ENST00000370730.1_Missense_Mutation_p.P113S|LPHN2_ENST00000370723.1_Missense_Mutation_p.P113S|LPHN2_ENST00000370715.1_Missense_Mutation_p.P113S|LPHN2_ENST00000394879.1_Missense_Mutation_p.P113S|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000335786.5_Missense_Mutation_p.P113S|LPHN2_ENST00000370727.1_Missense_Mutation_p.P113S|LPHN2_ENST00000370725.1_Missense_Mutation_p.P113S|LPHN2_ENST00000370713.1_Missense_Mutation_p.P113S|LPHN2_ENST00000319517.6_Missense_Mutation_p.P113S|LPHN2_ENST00000370721.1_Missense_Mutation_p.P113S|LPHN2_ENST00000359929.3_Missense_Mutation_p.P113S|LPHN2_ENST00000271029.4_Missense_Mutation_p.P113S|LPHN2_ENST00000370717.2_Missense_Mutation_p.P113S O95490 LPHN2_HUMAN latrophilin 2 113 SUEL-type lectin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AGATGTGTTTCCTGATCCATG 0.338000 14 62 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16860911 16860911 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:16860911G>A ENST00000524140.2 + 6 1876 c.1458G>A c.(1456-1458)ccG>ccA p.P486P NWD1_ENST00000549814.1_Silent_p.P486P|NWD1_ENST00000379808.3_Silent_p.P486P|NWD1_ENST00000339803.6_Silent_p.P351P|NWD1_ENST00000552788.1_Silent_p.P486P|NWD1_ENST00000523826.1_Silent_p.P280P NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 486 NACHT. 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 TCCTGGACCCGGAGGCCTACT 0.647000 17 73 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90501596 90501596 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:90501596G>A ENST00000325643.5 + 4 2260 c.2194G>A c.(2194-2196)Gaa>Aaa p.E732K NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 GGCTCTGGACGAAGACAAGGA 0.557000 8 41 0 0 1 0 0 RSPH1 89765 broad.mit.edu 37 21 43905788 43905788 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr21:43905788C>T ENST00000291536.3 - 5 659 c.492G>A c.(490-492)ttG>ttA p.L164L RSPH1_ENST00000398352.3_Silent_p.L126L NM_080860.2 NP_543136.1 Q8WYR4 RSPH1_HUMAN radial spoke head 1 homolog (Chlamydomonas) 164 meiosis cytosol|nucleus large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1) 12 CATTTTTGTTCAAGAACTTGC 0.502000 11 64 0 0 1 0 0 MKLN1 4289 broad.mit.edu 37 7 131128387 131128387 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:131128387C>T ENST00000352689.6 + 11 1361 c.1321C>T c.(1321-1323)Ctt>Ttt p.L441F MKLN1_ENST00000421797.2_Missense_Mutation_p.L349F NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 441 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) CTGGAAACTTCTTCGAGAGGA 0.448000 18 44 0 0 1 0 0 GDPD4 220032 broad.mit.edu 37 11 76969543 76969543 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:76969543C>T ENST00000315938.4 - 10 1002 c.752G>A c.(751-753)aGa>aAa p.R251K GDPD4_ENST00000376217.2_Missense_Mutation_p.R251K NM_182833.1 NP_878253.1 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 251 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 ATTGGTTGTTCTTTTCAGGTC 0.458000 25 101 0 0 1 0 0 CRY2 1408 broad.mit.edu 37 11 45891908 45891908 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:45891908C>T ENST00000443527.2 + 9 1459 c.1437C>T c.(1435-1437)ttC>ttT p.F479F CRY2_ENST00000417225.2_Silent_p.F397F NM_021117.3 NP_066940.2 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) 458 FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity). DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 TGAAAGCGTTCCCCTCTCGAT 0.527000 7 48 0 0 1 0 0 SEBOX 645832 broad.mit.edu 37 17 26692248 26692248 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:26692248C>T ENST00000431468.1 - 1 17 c.4G>A c.(4-6)Ggg>Agg p.G2R SARM1_ENST00000379061.4_Intron|SEBOX_ENST00000438614.1_Intron|SEBOX_ENST00000536498.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron NM_001080837.2 NP_001074306.2 Q9HB31 SEBOX_HUMAN SEBOX homeobox 2 cell differentiation|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(1)|lung(1)|skin(1) 5 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) CCAGACCCCCCCATTTGGGTT 0.617000 6 16 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43767830 43767830 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:43767830G>A ENST00000263801.3 - 9 1255 c.1003C>T c.(1003-1005)Cct>Tct p.P335S TP53BP1_ENST00000450115.2_Missense_Mutation_p.P340S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P340S|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P340S NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 335 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GTGGTGGCAGGAGTGGAAGCC 0.473000 Other conserved DNA damage response genes 19 55 0 0 1 0 0 NEK2 4751 broad.mit.edu 37 1 211842481 211842481 + Missense_Mutation SNP A A G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:211842481A>G ENST00000366999.4 - 6 1097 c.959T>C c.(958-960)cTc>cCc p.L320P NEK2_ENST00000540251.1_Missense_Mutation_p.L277P|NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000366998.3_Missense_Mutation_p.L320P NM_002497.3 NP_002488.1 P51955 NEK2_HUMAN NIMA-related kinase 2 320 Interaction with PCNT.|Leucine-zipper. cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis centrosome|condensed chromosome kinetochore|cytosol|nucleolus ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) TCTTGCTTTGAGAGCTCGCTC 0.453000 63 209 0 0 1 0 0 IL4R 3566 broad.mit.edu 37 16 27356219 27356219 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:27356219G>A ENST00000395762.2 + 5 498 c.239G>A c.(238-240)gGa>gAa p.G80E IL4R_ENST00000170630.2_Missense_Mutation_p.G80E|IL4R_ENST00000449195.1_Missense_Mutation_p.G80E|IL4R_ENST00000543915.2_Missense_Mutation_p.G80E|IL4R_ENST00000380922.3_Missense_Mutation_p.G65E NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 80 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 GAGAACAACGGAGGCGCGGGG 0.632000 14 42 0 0 1 0 0 ARRDC4 91947 broad.mit.edu 37 15 98514404 98514404 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:98514404C>T ENST00000268042.6 + 8 1408 c.1244C>T c.(1243-1245)tCc>tTc p.S415F ARRDC4_ENST00000538249.1_Missense_Mutation_p.S328F NM_183376.2 NP_899232.2 Q8NCT1 ARRD4_HUMAN arrestin domain containing 4 415 signal transduction breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3) 16 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) CAGCCTGTTTCCTTCATTCTC 0.398000 23 79 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72308565 72308565 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:72308565G>A ENST00000334456.5 - 5 667 c.422C>T c.(421-423)cCt>cTt p.P141L PDE2A_ENST00000544570.1_Missense_Mutation_p.P134L|PDE2A_ENST00000418754.2_Intron|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000540380.1_5'UTR|PDE2A_ENST00000444035.2_Missense_Mutation_p.P132L|PDE2A_ENST00000540345.1_Missense_Mutation_p.P132L NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 141 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) TTGGGTATCAGGAGCCAGTGG 0.642000 10 21 0 0 1 0 0 ZNF692 55657 broad.mit.edu 37 1 249151675 249151675 + Missense_Mutation SNP T T C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:249151675T>C ENST00000451251.1 - 4 593 c.248A>G c.(247-249)aAa>aGa p.K83R ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366469.5_Missense_Mutation_p.K78R|ZNF692_ENST00000427146.1_Missense_Mutation_p.K78R|ZNF692_ENST00000366471.3_Missense_Mutation_p.K78R|ZNF692_ENST00000306601.4_Missense_Mutation_p.K78R NM_001136036.2 NP_001129508.1 Q9BU19 ZN692_HUMAN zinc finger protein 692 78 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(6)|lung(7)|stomach(1) 17 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CTGCAGACCTTTTGGAGGCAA 0.637000 9 47 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120780940 120780940 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:120780940C>T ENST00000310396.5 + 15 2226 c.1759C>T c.(1759-1761)Cct>Tct p.P587S CPED1_ENST00000423795.1_Missense_Mutation_p.P367S|CPED1_ENST00000450913.2_Missense_Mutation_p.P587S NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 GGAACTAAATCCTGACTTTCA 0.368000 6 21 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31748802 31748802 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:31748802G>A ENST00000375663.3 - 22 3083 c.2643C>T c.(2641-2643)tcC>tcT p.S881S VARS_ENST00000482996.1_5'UTR NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 881 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CCACCTGCAGGGAGATTCCAT 0.617000 14 45 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53057934 53057934 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:53057934C>T ENST00000359798.4 + 5 1945 c.1765C>T c.(1765-1767)Cat>Tat p.H589Y NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) TCGTAGACTTCATACTGGAGA 0.368000 18 70 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57574529 57574529 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:57574529C>T ENST00000243077.3 + 33 5932 c.5466C>T c.(5464-5466)gtC>gtT p.V1822V NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1822 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCTCCGTGGTCCTTCGGAACA 0.652000 14 85 0 0 1 0 0 CEP44 80817 broad.mit.edu 37 4 175225445 175225445 + Silent SNP T T C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:175225445T>C ENST00000503780.1 + 6 846 c.432T>C c.(430-432)ccT>ccC p.P144P CEP44_ENST00000296519.4_Silent_p.P144P|CEP44_ENST00000426172.1_Silent_p.P144P|CEP44_ENST00000457424.2_Silent_p.P144P NM_001040157.2 NP_001035247.1 Q9C0F1 CEP44_HUMAN centrosomal protein 44kDa 144 centrosome|midbody|spindle pole endometrium(2)|large_intestine(4)|lung(5)|stomach(1) 12 AGTCAGAACCTCCTTTGGGCA 0.353000 11 41 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166929186 166929186 + Missense_Mutation SNP G G C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:166929186G>C ENST00000061240.2 + 7 1550 c.903G>C c.(901-903)agG>agC p.R301S TLL1_ENST00000513213.1_Missense_Mutation_p.R301S|TLL1_ENST00000507499.1_Missense_Mutation_p.R301S NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 301 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) ACTATGCCAGGAACACCTTCT 0.418000 7 62 0 0 1 0 0 MRPS11 64963 broad.mit.edu 37 15 89021115 89021115 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:89021115G>A ENST00000325844.4 + 6 755 c.490G>A c.(490-492)Gga>Aga p.G164R MRPS11_ENST00000353598.6_Missense_Mutation_p.G131R|MRPS11_ENST00000557974.1_3'UTR NM_022839.3 NP_073750.2 P82912 RT11_HUMAN mitochondrial ribosomal protein S11 164 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit structural constituent of ribosome large_intestine(3) 3 Lung NSC(78;0.203) BRCA - Breast invasive adenocarcinoma(143;0.188) TGCCATGCACGGACTGATCAT 0.557000 3 37 0 0 1 0 0 PKN1 5585 broad.mit.edu 37 19 14574503 14574503 + Nonsense_Mutation SNP G G T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:14574503G>T ENST00000242783.6 + 10 1609 c.1444G>T c.(1444-1446)Gag>Tag p.E482* PKN1_ENST00000342216.4_Nonsense_Mutation_p.E488* NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 482 activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 CCCTGTCATTGAGAGGATTCC 0.602000 22 66 6.32553e-13 6.45012e-13 1 1 0 MGEA5 10724 broad.mit.edu 37 10 103558700 103558700 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr10:103558700C>T ENST00000361464.3 - 9 2103 c.1708G>A c.(1708-1710)Gag>Aag p.E570K MGEA5_ENST00000439817.1_Missense_Mutation_p.E517K|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000370094.3_Missense_Mutation_p.E570K|MGEA5_ENST00000357797.5_Missense_Mutation_p.E517K NM_012215.3 NP_036347.1 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 570 glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) GGTCCATGCTCGTAAGGAAGG 0.448000 22 34 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119948504 119948504 + Missense_Mutation SNP C C T rs141002177 byFrequency TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:119948504C>T ENST00000307142.4 + 3 1176 c.980C>T c.(979-981)gCc>gTc p.A327V SYNPO2_ENST00000429713.2_Missense_Mutation_p.A327V|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.A327V NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 327 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GTATCCTTTGCCGTCTCATCA 0.552000 3 39 0 0 1 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92826841 92826841 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:92826841G>A ENST00000394468.2 - 5 1172 c.1095C>T c.(1093-1095)tcC>tcT p.S365S HEPACAM2_ENST00000440868.1_Silent_p.S353S|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000453812.2_Silent_p.S388S|HEPACAM2_ENST00000341723.4_Silent_p.S353S NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 365 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 GAAGACACATGGATATAATCA 0.294000 10 19 0 0 1 0 0 THEMIS2 9473 broad.mit.edu 37 1 28206198 28206198 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:28206198G>A ENST00000373921.3 + 3 283 c.279G>A c.(277-279)ctG>ctA p.L93L THEMIS2_ENST00000373925.1_Silent_p.L93L|THEMIS2_ENST00000328928.7_Silent_p.L93L|THEMIS2_ENST00000373927.3_Intron NM_001105556.1 NP_001099026.1 thymocyte selection associated family member 2 ATGAAACCCTGGAGGAGCTGG 0.612000 9 40 0 0 1 0 0 CLU 1191 broad.mit.edu 37 8 27457501 27457501 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:27457501C>T ENST00000316403.10 - 7 1365 c.960G>A c.(958-960)caG>caA p.Q320Q CLU_ENST00000546343.1_Silent_p.Q331Q|CLU_ENST00000523500.1_Silent_p.Q320Q|CLU_ENST00000405140.3_Silent_p.Q320Q|CLU_ENST00000560366.1_Silent_p.Q372Q P10909 CLUS_HUMAN clusterin 320 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) GCAGCTTAGCCTGGGAGGGGT 0.527000 4 34 0 0 1 0 0 FPGT 8790 broad.mit.edu 37 1 74670263 74670263 + Missense_Mutation SNP T T G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:74670263T>G ENST00000370898.2 + 4 569 c.532T>G c.(532-534)Ttt>Gtt p.F178V FPGT-TNNI3K_ENST00000370895.1_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370894.4_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000534056.1_Intron|FPGT_ENST00000467578.2_3'UTR|FPGT_ENST00000524915.1_Intron NM_001199328.1|NM_003838.3 NP_001186257.1|NP_003829.2 fucose-1-phosphate guanylyltransferase breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 39 TATTGGAGAATTTGAGTTTAT 0.353000 9 32 0 0 1 0 0 ZNF48 197407 broad.mit.edu 37 16 30409510 30409510 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:30409510C>T ENST00000320159.2 + 2 1315 c.939C>T c.(937-939)gcC>gcT p.A313A NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2 NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2 Q96MX3 ZNF48_HUMAN zinc finger protein 48 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 AGGAGTTTGCCCGGGGATCCG 0.627000 17 50 0 0 1 0 0 TWISTNB 221830 broad.mit.edu 37 7 19738074 19738074 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:19738074G>A ENST00000222567.5 - 4 952 c.882C>T c.(880-882)ttC>ttT p.F294F NM_001002926.1 NP_001002926.1 Q3B726 RPA43_HUMAN TWIST neighbor 294 Lys-rich. microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 20 CACTGCCTTGGAAAACAGGGT 0.423000 77 231 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 132051787 132051787 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:132051787C>T ENST00000286355.5 - 1 2885 c.793G>A c.(793-795)Ggg>Agg p.G265R ADCY8_ENST00000377928.3_Missense_Mutation_p.G265R NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 265 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CCCAGGAGCCCGTAGCCGAGG 0.667000 HNSCC(32;0.087) 7 41 0 0 1 0 0 OR1S1 219959 broad.mit.edu 37 11 57983146 57983146 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:57983146G>A ENST00000309433.6 + 1 930 c.930G>A c.(928-930)atG>atA p.M310I NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) ATAAGGATATGAAAGGTGCCC 0.423000 36 104 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118629532 118629532 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:118629532G>A ENST00000336338.5 - 11 1524 c.1459C>T c.(1459-1461)Ctt>Ttt p.L487F NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 487 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GAGGGCAGAAGGGACACAATG 0.507000 33 84 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140123537 140123537 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:140123537C>T ENST00000458420.3 + 4 756 c.566C>T c.(565-567)tCc>tTc p.S189F NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 189 Cadherin 2. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding p.S189Y(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GAGGACTGCTCCCCACAGTAC 0.537000 HNSCC(16;0.037) 8 63 0 0 1 0 0 PNKP 11284 broad.mit.edu 37 19 50367233 50367233 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:50367233C>T ENST00000322344.3 - 7 841 c.732G>A c.(730-732)ggG>ggA p.G244G PNKP_ENST00000600573.1_Silent_p.G244G|PNKP_ENST00000600910.1_Silent_p.G244G|PNKP_ENST00000596014.1_Silent_p.G244G NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 244 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) GGAAGGGGACCCCCAGCTTCT 0.637000 Other BER factors 4 19 0 0 1 0 0 DDX20 11218 broad.mit.edu 37 1 112302037 112302037 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:112302037C>T ENST00000369702.4 + 3 1032 c.412C>T c.(412-414)Cct>Tct p.P138S DDX20_ENST00000536167.1_Intron NM_007204.4 NP_009135.4 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 138 Helicase ATP-binding. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GATCTTGGCTCCTACAAGAGA 0.348000 6 31 0 0 1 0 0 RASSF9 9182 broad.mit.edu 37 12 86199302 86199302 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:86199302C>T ENST00000361228.3 - 2 854 c.486G>A c.(484-486)agG>agA p.R162R NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 162 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGAAAGTTTTCCTGACTATTC 0.388000 28 80 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26806165 26806165 + Missense_Mutation SNP A A T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:26806165A>T ENST00000541819.2 - 9 1264 c.1162T>A c.(1162-1164)Ttt>Att p.F388I GABRB3_ENST00000545868.1_Missense_Mutation_p.F247I|GABRB3_ENST00000311550.5_Missense_Mutation_p.F332I|GABRB3_ENST00000299267.4_Missense_Mutation_p.F332I|GABRB3_ENST00000400188.3_Missense_Mutation_p.F261I P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 332 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CCTCTTCCAAAGAAAATGTAG 0.483000 11 63 0 0 1 0 0 PSD2 84249 broad.mit.edu 37 5 139189295 139189295 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:139189295G>A ENST00000274710.3 + 2 475 c.270G>A c.(268-270)ctG>ctA p.L90L NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 90 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAACATTCTGGAAGATTCAG 0.617000 33 90 0 0 1 0 0 ALDH1A1 216 broad.mit.edu 37 9 75531868 75531868 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:75531868G>A ENST00000297785.3 - 9 1057 c.1003C>T c.(1003-1005)Cct>Tct p.P335S NM_000689.4 NP_000680.2 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1 family, member A1 335 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) GGGGTCAGAGGATTTCCAAGG 0.418000 22 68 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57584636 57584636 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:57584636G>A ENST00000243077.3 + 43 7546 c.7080G>A c.(7078-7080)cgG>cgA p.R2360R NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2360 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCATCATGCGGGCGGCGCTCT 0.582000 5 24 0 0 1 0 0 SLC6A13 6540 broad.mit.edu 37 12 347135 347135 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:347135C>T ENST00000343164.4 - 5 572 c.520G>A c.(520-522)Ggt>Agt p.G174S SLC6A13_ENST00000445055.2_Missense_Mutation_p.G82S NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 174 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) TCAGAGGTACCATTCAGGGAG 0.522000 12 40 0 0 1 0 0 AGTRAP 57085 broad.mit.edu 37 1 11810168 11810168 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:11810168C>T ENST00000510878.1 + 4 327 c.293C>T c.(292-294)aCc>aTc p.T98I AGTRAP_ENST00000452018.2_3'UTR|AGTRAP_ENST00000376629.4_Silent_p.Y126Y|AGTRAP_ENST00000376637.3_3'UTR|AGTRAP_ENST00000314340.5_Silent_p.Y133Y|AGTRAP_ENST00000400895.2_3'UTR|AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000491346.1_3'UTR Q6RW13 ATRAP_HUMAN angiotensin II receptor-associated protein 0 cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein binding AGTRAP/BRAF(2) endometrium(1)|lung(3)|prostate(1) 5 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) GTAGTGCCTACCAGACGATTG 0.577000 6 28 0 0 1 0 0 POLR2B 5431 broad.mit.edu 37 4 57871874 57871874 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:57871874C>T ENST00000381227.1 + 10 1619 c.1206C>T c.(1204-1206)ttC>ttT p.F402F POLR2B_ENST00000431623.2_Silent_p.F327F|POLR2B_ENST00000441246.2_Silent_p.F395F|POLR2B_ENST00000314595.5_Silent_p.F402F P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 402 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 binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) TGCTTGCATTCTTATTTAGAG 0.403000 15 44 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55146105 55146105 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:55146105C>T ENST00000396331.1 + 11 1731 c.1374C>T c.(1372-1374)caC>caT p.H458H LILRB1_ENST00000324602.7_Silent_p.H459H|LILRB1_ENST00000396321.2_Silent_p.H458H|LILRB1_ENST00000418536.2_Silent_p.H442H|LILRB1_ENST00000448689.1_Silent_p.H458H|LILRB1_ENST00000396327.3_Silent_p.H459H|LILRB1_ENST00000396317.1_Silent_p.H442H|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Silent_p.H458H|LILRB1_ENST00000434867.2_Silent_p.H458H|LILRB1_ENST00000427581.2_Silent_p.H508H|LILRB1_ENST00000396315.1_Silent_p.H459H NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 458 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TGGGAAGGCACCTGGGGGTTG 0.567000 HNSCC(37;0.09) 9 38 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95556114 95556114 + Silent SNP G G T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:95556114G>T ENST00000297591.5 - 2 195 c.120C>A c.(118-120)gtC>gtA p.V40V KIAA1429_ENST00000437199.1_Silent_p.V40V|KIAA1429_ENST00000421249.2_Silent_p.V40V NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 40 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GTATGACTCGGACTTCATTGA 0.408000 38 167 1.76056e-25 1.8033e-25 1 1 0 ANKK1 255239 broad.mit.edu 37 11 113270762 113270762 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:113270762G>A ENST00000303941.3 + 8 2165 c.2071G>A c.(2071-2073)Gtg>Atg p.V691M NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 691 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) CCGCAACAAGGTGGGCTGGAC 0.632000 16 66 0 0 1 0 0 EML3 256364 broad.mit.edu 37 11 62373563 62373563 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:62373563G>A ENST00000394773.2 - 13 1935 c.1628C>T c.(1627-1629)cCc>cTc p.P543L EML3_ENST00000438258.1_5'UTR|EML3_ENST00000529309.1_Missense_Mutation_p.P543L|EML3_ENST00000494176.2_Missense_Mutation_p.P515L|EML3_ENST00000531557.1_Missense_Mutation_p.P326L|EML3_ENST00000278845.4_Missense_Mutation_p.P544L NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 543 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 CACCAACCCGGGCCCCCACTG 0.637000 42 164 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106163551 106163551 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr10:106163551G>A ENST00000369704.3 + 14 2238 c.2104G>A c.(2104-2106)Gag>Aag p.E702K NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 702 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) AGCCCTGGAGGAGGAGCTGGA 0.488000 5 13 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176998844 176998844 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:176998844G>A ENST00000367654.2 - 5 1059 c.1046C>T c.(1045-1047)tCt>tTt p.S349F ASTN1_ENST00000361833.2_Missense_Mutation_p.S349F|ASTN1_ENST00000424564.2_Missense_Mutation_p.S349F|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.S349F O14525 ASTN1_HUMAN astrotactin 1 349 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CTCTGTGCCAGAATCCCCTTC 0.507000 5 15 0 0 1 0 0 PAX5 5079 broad.mit.edu 37 9 36882013 36882013 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:36882013C>T ENST00000358127.4 - 8 1074 c.1000G>A c.(1000-1002)Ggg>Agg p.G334R PAX5_ENST00000377853.2_Missense_Mutation_p.G334R|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.G291R|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.G226R|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.G291R NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 334 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(22) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) GGCACCATCCCTGTCAGCGTC 0.667000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 7 12 0 0 1 0 0 CFI 3426 broad.mit.edu 37 4 110662171 110662171 + Missense_Mutation SNP C C A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:110662171C>A ENST00000394634.2 - 13 1837 c.1630G>T c.(1630-1632)Gtg>Ttg p.V544L CFI_ENST00000512148.1_Missense_Mutation_p.V537L|CFI_ENST00000394635.3_Missense_Mutation_p.V552L NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 544 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) CCCCAACTCACAACACCCCAG 0.468000 64 208 1.62403e-39 1.66496e-39 1 1 0 BEND4 389206 broad.mit.edu 37 4 42122227 42122227 + Missense_Mutation SNP C C A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:42122227C>A ENST00000502486.1 - 5 1810 c.1231G>T c.(1231-1233)Ggg>Tgg p.G411W BEND4_ENST00000504360.1_Missense_Mutation_p.G407W NM_207406.3 NP_997289.2 Q6ZU67 BEND4_HUMAN BEN domain containing 4 411 BEN. NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 AGCCGTCTCCCATCTTTCTTT 0.453000 16 53 2.23348e-06 2.26128e-06 1 1 0 DDI1 414301 broad.mit.edu 37 11 103908697 103908697 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:103908697G>A ENST00000302259.3 + 1 1390 c.1147G>A c.(1147-1149)Gaa>Aaa p.E383K PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 383 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) TTCGGACAAGGAAATTACACA 0.468000 12 29 0 0 1 0 0 PANK1 53354 broad.mit.edu 37 10 91371714 91371714 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr10:91371714C>T ENST00000307534.4 - 2 950 c.795G>A c.(793-795)gaG>gaA p.E265E PANK1_ENST00000322191.6_Silent_p.E40E|PANK1_ENST00000342512.3_Silent_p.E40E|PANK1_ENST00000371774.2_Silent_p.E67E NM_148977.2 NP_683878.1 Q8TE04 PANK1_HUMAN pantothenate kinase 1 265 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 11 Bezafibrate(DB01393) TCTCCACTTCCTCTTGCTCCT 0.473000 15 54 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539825 56539825 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:56539825G>A ENST00000390649.3 + 7 2226 c.2226G>A c.(2224-2226)ggG>ggA p.G742G NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 742 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) ATGTCAAAGGGATCTTCCCAA 0.517000 34 157 0 0 1 0 0 RAPH1 65059 broad.mit.edu 37 2 204305456 204305456 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:204305456G>A ENST00000319170.5 - 14 2756 c.2457C>T c.(2455-2457)ttC>ttT p.F819F RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Silent_p.F871F NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 819 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AAGAAGCAGGGAAAGCTGGCT 0.577000 14 39 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149153029 149153029 + Nonsense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:149153029G>A ENST00000247930.4 - 2 408 c.85C>T c.(85-87)Cga>Tga p.R29* NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 29 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) AGAGTTTCTCGGGGGAGTCCA 0.552000 13 43 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122411235 122411235 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:122411235C>T ENST00000474629.2 + 4 709 c.443C>T c.(442-444)tCc>tTc p.S148F NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GAAAATATTTCCTCTTTGGTG 0.373000 4 46 0 0 1 0 0 SLC26A8 116369 broad.mit.edu 37 6 35923258 35923258 + Missense_Mutation SNP C C T rs142738122 byFrequency TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:35923258C>T ENST00000490799.1 - 17 2256 c.1903G>A c.(1903-1905)Gaa>Aaa p.E635K SLC26A8_ENST00000355574.2_Missense_Mutation_p.E635K|SLC26A8_ENST00000394602.2_Missense_Mutation_p.E530K NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 635 STAS. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 GAGGATGCTTCGGGATCCAGT 0.478000 14 53 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994589 140994589 + Missense_Mutation SNP C C A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chrX:140994589C>A ENST00000285879.4 + 4 1685 c.1399C>A c.(1399-1401)Cac>Aac p.H467N MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 467 H -> Q (in Ref. 1; AAC18837). protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TGAGAGAACTCACAGTACTTT 0.488000 HNSCC(15;0.026) 52 68 2.84144e-21 2.9052e-21 1 1 0 SIGLEC1 6614 broad.mit.edu 37 20 3677379 3677379 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr20:3677379G>A ENST00000344754.4 - 10 2536 c.2537C>T c.(2536-2538)tCc>tTc p.S846F SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S846F NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 846 Ig-like C2-type 8. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CCGACCATGGGATGGGACCTG 0.632000 16 74 0 0 1 0 0 AGPAT6 137964 broad.mit.edu 37 8 41456766 41456766 + Missense_Mutation SNP T T A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:41456766T>A ENST00000396987.3 + 2 1035 c.108T>A c.(106-108)ttT>ttA p.F36L NM_178819.3 NP_848934.1 Q86UL3 GPAT4_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 6 36 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity endometrium(3)|kidney(2)|large_intestine(3)|lung(6) 14 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) CAGCCATTTTTGGAGTCTCCT 0.443000 40 85 0 0 1 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166454 180166454 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:180166454C>T ENST00000307832.2 - 1 645 c.605G>A c.(604-606)cGa>cAa p.R202Q NM_001001657.1 NP_001001657.1 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, member 1 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GACTATGACTCGGGCCACAAA 0.517000 18 76 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47276531 47276531 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:47276531C>T ENST00000271153.4 + 2 268 c.232C>T c.(232-234)Ccg>Tcg p.P78S CYP4B1_ENST00000371919.4_Missense_Mutation_p.P78S|CYP4B1_ENST00000371923.4_Missense_Mutation_p.P78S P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 78 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) CCACCAGTTCCCGTATGCCCA 0.552000 14 34 0 0 1 0 0 SASS6 163786 broad.mit.edu 37 1 100572932 100572932 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:100572932C>T ENST00000287482.5 - 11 1464 c.1324G>A c.(1324-1326)Gag>Aag p.E442K SASS6_ENST00000535161.1_Missense_Mutation_p.E275K|SASS6_ENST00000462159.1_5'UTR NM_194292.1 NP_919268.1 Q6UVJ0 SAS6_HUMAN spindle assembly 6 homolog (C. elegans) 442 centriole replication centriole breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 19 all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197) TTAACTACCTCTTGCTCTTTA 0.289000 3 22 0 0 1 0 0 FBXO30 84085 broad.mit.edu 37 6 146127256 146127256 + Nonsense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:146127256G>A ENST00000237281.4 - 2 452 c.286C>T c.(286-288)Cga>Tga p.R96* NM_032145.4 NP_115521.3 Q8TB52 FBX30_HUMAN F-box protein 30 96 ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) ACTGGCCATCGATTCCATTCC 0.433000 52 88 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33686930 33686930 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr13:33686930G>A ENST00000336934.5 - 9 2536 c.2420C>T c.(2419-2421)cCc>cTc p.P807L STARD13_ENST00000255486.4_Missense_Mutation_p.P799L|STARD13_ENST00000399365.3_Missense_Mutation_p.P689L NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 807 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CAGGTTCATGGGCGTCATCTG 0.498000 48 107 0 0 1 0 0 MAML1 9794 broad.mit.edu 37 5 179192384 179192384 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:179192384G>A ENST00000292599.3 + 2 636 c.373G>A c.(373-375)Gat>Aat p.D125N MAML1_ENST00000503050.1_3'UTR NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 125 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity p.D162N(1)|p.D125N(1) central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCAGAATGGCGATCAACAGAA 0.478000 15 61 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1204859 1204859 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:1204859C>T ENST00000308624.5 + 9 791 c.662C>T c.(661-663)tCc>tTc p.S221F SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Missense_Mutation_p.S94F NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 221 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GACACCTTGTCCGTGCCTCTG 0.527000 35 101 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81666380 81666380 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:81666380G>A ENST00000558726.1 - 1 174 c.39C>T c.(37-39)atC>atT p.I13I TMC3_ENST00000359440.5_Silent_p.I13I Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 13 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 CATTTCTCCGGATGCCTCTAT 0.552000 7 32 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26917366 26917366 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:26917366C>T ENST00000539517.2 - 5 1640 c.1323G>A c.(1321-1323)ggG>ggA p.G441G NOVA1_ENST00000267422.7_Silent_p.G319G|NOVA1_ENST00000465357.2_Silent_p.G417G NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 444 KH 3. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) CTAATGTTTTCCCTCCTTTGC 0.433000 8 26 0 0 1 0 0 SARS 6301 broad.mit.edu 37 1 109772065 109772065 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:109772065C>T ENST00000369923.4 + 4 329 c.318C>T c.(316-318)gtC>gtT p.V106V SARS_ENST00000234677.2_Silent_p.V106V P49591 SYSC_HUMAN seryl-tRNA synthetase 106 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) TCAAAAAAGTCCGACTCCTCA 0.502000 48 198 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42609913 42609913 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr22:42609913G>A ENST00000359486.3 - 1 1535 c.1399C>T c.(1399-1401)Cct>Tct p.P467S TCF20_ENST00000335626.4_Missense_Mutation_p.P467S NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 467 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 ACAGTGTTAGGAAGATTGGCC 0.483000 61 59 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526129 176526129 + Missense_Mutation SNP A A C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:176526129A>C ENST00000367662.3 + 2 1835 c.671A>C c.(670-672)aAg>aCg p.K224T PAPPA2_ENST00000367661.3_Missense_Mutation_p.K224T NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 224 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCTTGGCCCAAGCATTCCCTT 0.557000 29 84 0 0 1 0 0 BRD9 65980 broad.mit.edu 37 5 889761 889761 + Splice_Site SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:889761G>A ENST00000467963.1 - 4 568 c.400_splice c.e4-1 p.A134_splice BRD9_ENST00000323510.4_Silent_p.A18A|BRD9_ENST00000388890.4_Silent_p.A18A|BRD9_ENST00000483173.1_Splice_Site_p.P83_splice|BRD9_ENST00000435709.2_Silent_p.A18A NM_023924.4 NP_076413.3 Q9H8M2 BRD9_HUMAN bromodomain containing 9 134 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) TCTCATTTTCGGCTGACAATT 0.468000 11 60 0 0 1 0 0 OR5D14 219436 broad.mit.edu 37 11 55563808 55563808 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:55563808C>T ENST00000335605.1 + 1 777 c.777C>T c.(775-777)ttC>ttT p.F259F NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) CCATCCTTTTCCTTTACTGTG 0.483000 16 56 0 0 1 0 0 SPRED2 200734 broad.mit.edu 37 2 65561833 65561833 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:65561833G>A ENST00000356388.4 - 3 468 c.279C>T c.(277-279)gtC>gtT p.V93V SPRED2_ENST00000443619.2_Silent_p.V90V|SPRED2_ENST00000474228.1_5'UTR NM_181784.2 NP_861449.2 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 93 WH1. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 TCCTATTATCGACCTTCCAGT 0.458000 24 106 0 0 1 0 0 MSS51 118490 broad.mit.edu 37 10 75185909 75185909 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr10:75185909G>A ENST00000299432.2 - 5 794 c.729C>T c.(727-729)ccC>ccT p.P243P MSS51_ENST00000372912.1_Silent_p.P243P NM_001024593.1 NP_001019764.1 Q4VC12 ZMY17_HUMAN MSS51 mitochondrial translational activator 243 zinc ion binding CTAGAGTCAAGGGCCGTGACA 0.572000 25 31 0 0 1 0 0 LRCH3 84859 broad.mit.edu 37 3 197593054 197593054 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:197593054C>T ENST00000438796.2 + 17 1881 c.1837C>T c.(1837-1839)Ctt>Ttt p.L613F LRCH3_ENST00000441090.2_Missense_Mutation_p.L459F|LRCH3_ENST00000414675.2_Missense_Mutation_p.L561F|LRCH3_ENST00000334859.4_Missense_Mutation_p.L613F|LRCH3_ENST00000425562.2_Missense_Mutation_p.L613F|LRCH3_ENST00000536618.1_Missense_Mutation_p.L208F Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 613 extracellular region breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) TGAAAGCTTCCTTTTCCGAGC 0.453000 14 45 0 0 1 0 0 MLLT6 4302 broad.mit.edu 37 17 36876823 36876823 + Splice_Site SNP G G T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:36876823G>T ENST00000325718.7 + 15 2444 c.e15+1 NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) CCTCCCCAAGGTGAGGGGATC 0.692000 T MLL AL 4 11 2.0095e-06 2.03631e-06 1 1 0 PDE1A 5136 broad.mit.edu 37 2 183387007 183387007 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:183387007C>T ENST00000435564.1 - 1 297 c.97G>A c.(97-99)Gga>Aga p.G33R PDE1A_ENST00000331935.6_Missense_Mutation_p.G33R|PDE1A_ENST00000410103.1_Missense_Mutation_p.G33R|PDE1A_ENST00000358139.2_Missense_Mutation_p.G33R|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000456212.1_Missense_Mutation_p.G33R NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 33 Calmodulin-binding (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) ACTCACATTCCTTTCAGGCGC 0.413000 20 51 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14620489 14620489 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:14620489C>T ENST00000403951.2 - 19 2029 c.1610G>A c.(1609-1611)gGa>gAa p.G537E DGKB_ENST00000406247.3_Missense_Mutation_p.G537E|DGKB_ENST00000258767.5_Missense_Mutation_p.G537E|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.G537E|DGKB_ENST00000402815.1_Missense_Mutation_p.G536E|DGKB_ENST00000407950.1_Missense_Mutation_p.G529E|DGKB_ENST00000444700.2_Missense_Mutation_p.G518E Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 537 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) TGCTTTACCTCCTCCCCATCG 0.433000 3 32 0 0 1 0 0 ZNF579 163033 broad.mit.edu 37 19 56090279 56090279 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:56090279C>T ENST00000325421.4 - 2 755 c.727G>A c.(727-729)Ggc>Agc p.G243S NM_152600.2 NP_689813.2 Q8NAF0 ZN579_HUMAN zinc finger protein 579 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.106) TTGAGCTCGCCCTTGGTGGCG 0.711000 4 9 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57476441 57476441 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:57476441G>A ENST00000371236.2 - 14 1858 c.1595C>T c.(1594-1596)tCc>tTc p.S532F DAB1_ENST00000414851.2_Missense_Mutation_p.S514F|DAB1_ENST00000371234.4_Missense_Mutation_p.S532F|DAB1_ENST00000371231.1_Missense_Mutation_p.S565F|DAB1_ENST00000439789.2_Missense_Mutation_p.S446F|DAB1_ENST00000420954.2_Missense_Mutation_p.S530F|DAB1_ENST00000485760.1_5'UTR O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 565 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 ATCACTGTTGGATGAGGCCTG 0.438000 26 62 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404428 20404428 + Silent SNP G G A rs149331677 byFrequency TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:20404428G>A ENST00000285600.4 + 1 662 c.603G>A c.(601-603)acG>acA p.T201T NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TGACCCTAACGAACAGTGGCC 0.448000 14 56 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21646062 21646062 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:21646062G>A ENST00000328843.6 + 19 3698 c.3667G>A c.(3667-3669)Gaa>Aaa p.E1223K DNAH11_ENST00000409508.3_Missense_Mutation_p.E1223K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1223 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TGAAAGATGGGAAACTACCAA 0.363000 Kartagener syndrome 4 10 0 0 1 0 0 ZNF507 22847 broad.mit.edu 37 19 32845058 32845058 + Missense_Mutation SNP T T C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:32845058T>C ENST00000311921.3 + 2 1514 c.1322T>C c.(1321-1323)gTt>gCt p.V441A ZNF507_ENST00000544431.1_Missense_Mutation_p.V441A|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.V441A NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 441 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) ATGGATGATGTTTATCGTGCT 0.453000 30 86 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152652693 152652693 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:152652693G>A ENST00000367255.5 - 78 13728 c.13127C>T c.(13126-13128)cCt>cTt p.P4376L SYNE1_ENST00000448038.1_Missense_Mutation_p.P4305L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P4241L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P4305L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P4376L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4376 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CATATCTGGAGGAGGGCTCTG 0.522000 HNSCC(10;0.0054) 8 28 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19653753 19653753 + Missense_Mutation SNP G G A rs146789008 TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:19653753G>A ENST00000586018.1 + 6 1069 c.967G>A c.(967-969)Ggg>Agg p.G323R CILP2_ENST00000291495.4_Missense_Mutation_p.G317R Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 317 Ig-like C2-type. proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CAAAGCCTCCGGGACCCCCAT 0.557000 24 84 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71650897 71650897 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:71650897C>T ENST00000409544.1 + 22 4883 c.4253C>T c.(4252-4254)cCa>cTa p.P1418L ZNF638_ENST00000409407.1_Missense_Mutation_p.P358L|ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.P1418L NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1418 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 AAAAGTTTTCCAAAATCTGTG 0.398000 11 28 0 0 1 0 0 TACC1 6867 broad.mit.edu 37 8 38700891 38700891 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:38700891C>T ENST00000379931.3 + 12 2621 c.2242C>T c.(2242-2244)Cac>Tac p.H748Y TACC1_ENST00000520611.1_Missense_Mutation_p.H173Y|TACC1_ENST00000520615.1_Missense_Mutation_p.H541Y|TACC1_ENST00000518415.1_Missense_Mutation_p.H662Y|TACC1_ENST00000276520.8_Missense_Mutation_p.H326Y|TACC1_ENST00000317827.4_Missense_Mutation_p.H736Y|TACC1_ENST00000520973.1_Missense_Mutation_p.H512Y|TACC1_ENST00000443286.2_Missense_Mutation_p.H723Y|TACC1_ENST00000519416.1_Missense_Mutation_p.H540Y|TACC1_ENST00000330691.6_Missense_Mutation_p.H310Y|TACC1_ENST00000348567.4_Missense_Mutation_p.H298Y O75410 TACC1_HUMAN transforming, acidic coiled-coil containing protein 1 736 Interaction with CH-TOG. cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3) 17 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) CCTGAAAATCCACGCAGAAGA 0.403000 46 75 0 0 1 0 0 NOC2L 26155 broad.mit.edu 37 1 892591 892591 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:892591G>A ENST00000327044.6 - 3 291 c.242C>T c.(241-243)cCc>cTc p.P81L NOC2L_ENST00000487214.1_5'UTR NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 81 nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) GTAGAACTCGGGGTCTCTGTC 0.597000 18 81 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187683 152187683 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:152187683C>T ENST00000368801.2 - 3 6497 c.6422G>A c.(6421-6423)gGa>gAa p.G2141E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2141 keratinization calcium ion binding|protein binding p.G2141E(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGATGACTGTCCTGATCTAGA 0.587000 33 1699 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100201320 100201320 + Nonsense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:100201320C>T ENST00000209668.2 - 7 1058 c.945G>A c.(943-945)tgG>tgA p.W315* RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 315 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) TAGCTCCCTTCCAGGTACGTC 0.468000 27 127 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525363 248525363 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:248525363C>T ENST00000366475.1 + 1 481 c.481C>T c.(481-483)Cct>Tct p.P161S NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CATCTGCCATCCTCTCCGTTA 0.522000 50 153 0 0 1 0 0 TRAV23DV6 28660 broad.mit.edu 37 14 22555198 22555198 + RNA SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:22555198C>T ENST00000390451.2 + 0 369 TCATGGATTCCCAGCCTGGAG 0.488000 3 13 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19655434 19655434 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:19655434G>A ENST00000586018.1 + 8 2200 c.2098G>A c.(2098-2100)Gag>Aag p.E700K CILP2_ENST00000291495.4_Missense_Mutation_p.E694K Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 694 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GTGGGAGGAGGAGAGCGGCTT 0.726000 4 10 0 0 1 0 0 DCAF15 90379 broad.mit.edu 37 19 14067018 14067018 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:14067018C>T ENST00000254337.6 + 5 578 c.557C>T c.(556-558)gCc>gTc p.A186V NM_138353.2 NP_612362.2 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 186 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1) 11 AGCACCGTGGCCGTGCCACCG 0.682000 10 18 0 0 1 0 0 HS1BP3 64342 broad.mit.edu 37 2 20838224 20838224 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:20838224C>T ENST00000402541.1 - 4 609 c.595G>A c.(595-597)Gag>Aag p.E199K HS1BP3_ENST00000304031.3_Missense_Mutation_p.E199K Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 199 Poly-Glu. cell communication phosphatidylinositol binding endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCAGCGCCTCCTCCTCCTCC 0.582000 6 28 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40947498 40947498 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:40947498G>A ENST00000246914.5 + 15 3002 c.2981G>A c.(2980-2982)cGg>cAg p.R994Q NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 994 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CCTCCTGCTCGGCCCCTCCCA 0.582000 35 111 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057632 9057632 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:9057632C>T ENST00000397910.4 - 3 30017 c.29814G>A c.(29812-29814)gtG>gtA p.V9938V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9940 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCCTGGTGATCACTTCAGTGA 0.448000 62 198 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80633149 80633149 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:80633149C>T ENST00000458043.2 + 10 961 c.955C>T c.(955-957)Cct>Tct p.P319S OTOGL_ENST00000547103.1_Missense_Mutation_p.P319S NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GTTGCAGTTTCCTTTTCTGAG 0.353000 19 45 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 957730 957730 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:957730G>A ENST00000379370.2 + 2 401 c.351G>A c.(349-351)gtG>gtA p.V117V NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 117 NtA. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) TCTTCTTTGTGAACCCTGCAC 0.602000 37 127 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137813998 137813998 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:137813998G>A ENST00000409968.1 + 3 326 c.148G>A c.(148-150)Gga>Aga p.G50R THSD7B_ENST00000413152.2_Missense_Mutation_p.G19R|THSD7B_ENST00000272643.3_Missense_Mutation_p.G50R thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AGGTCCGTGGGGAAGGTGTAC 0.473000 11 40 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65260221 65260221 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:65260221C>T ENST00000389722.3 - 13 2213 c.2160G>A c.(2158-2160)gaG>gaA p.E720E SPTB_ENST00000556626.1_Silent_p.E720E|SPTB_ENST00000542895.1_Silent_p.E720E|SPTB_ENST00000389720.3_Silent_p.E720E|SPTB_ENST00000389721.5_Silent_p.E720E NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 720 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GTGCCGACACCTCCTTTATGC 0.592000 17 43 0 0 1 0 0 RORA 6095 broad.mit.edu 37 15 60789818 60789818 + Splice_Site SNP A A C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:60789818A>C ENST00000335670.6 - 11 1508 c.1407_splice c.e11-1 p.L470_splice RORA_ENST00000309157.4_Splice_Site_p.L495_splice|RORA_ENST00000261523.5_Splice_Site_p.L503_splice|RORA_ENST00000449337.2_Splice_Site_p.L415_splice|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA NM_134261.2 NP_599023.1 P35398 RORA_HUMAN RAR-related orphan receptor A 503 Ligand-binding. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 21 TTGCATATTAACTGTAAGTGA 0.388000 6 47 0 0 1 0 0 MED24 9862 broad.mit.edu 37 17 38192009 38192009 + Missense_Mutation SNP G G T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:38192009G>T ENST00000394126.1 - 4 785 c.367C>A c.(367-369)Ctg>Atg p.L123M MED24_ENST00000501516.3_Missense_Mutation_p.L98M|MED24_ENST00000394128.2_Missense_Mutation_p.L98M|MED24_ENST00000394127.2_Missense_Mutation_p.L85M|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000356271.3_Missense_Mutation_p.L85M O75448 MED24_HUMAN mediator complex subunit 24 98 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) ATGATGTCCAGCAATGCCTGG 0.527000 10 35 1.61879e-10 1.64625e-10 1 1 0 CLIP1 6249 broad.mit.edu 37 12 122803822 122803822 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:122803822G>A ENST00000358808.2 - 17 3444 c.3290C>T c.(3289-3291)tCc>tTc p.S1097F CLIP1_ENST00000545889.1_Missense_Mutation_p.S683F|CLIP1_ENST00000540338.1_Missense_Mutation_p.S1108F|CLIP1_ENST00000537178.1_Missense_Mutation_p.S1062F|CLIP1_ENST00000361654.4_Missense_Mutation_p.S986F|CLIP1_ENST00000302528.7_Missense_Mutation_p.S1097F NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1108 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) GTCCTCCAAGGAGGCCAGAGT 0.398000 11 44 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65423339 65423339 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chrX:65423339C>T ENST00000519389.1 + 13 2552 c.2373C>T c.(2371-2373)atC>atT p.I791I HEPH_ENST00000336279.5_Silent_p.I470I|HEPH_ENST00000343002.2_Silent_p.I737I|HEPH_ENST00000374727.3_Silent_p.I740I|HEPH_ENST00000441993.2_Silent_p.I740I|HEPH_ENST00000419594.1_Silent_p.I548I Q9BQS7 HEPH_HUMAN hephaestin 737 Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 TCTACTATATCATGGCAGAAG 0.522000 8 5 0 0 1 0 0 GEMIN4 50628 broad.mit.edu 37 17 649640 649640 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:649640G>A ENST00000576778.1 - 1 2951 c.1610C>T c.(1609-1611)tCc>tTc p.S537F GEMIN4_ENST00000319004.5_Missense_Mutation_p.S548F P57678 GEMI4_HUMAN gem (nuclear organelle) associated protein 4 548 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) GCGGGCCACGGAGGCCACAGC 0.547000 17 30 0 0 1 0 0 ZNF609 23060 broad.mit.edu 37 15 64972386 64972386 + Missense_Mutation SNP T T G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:64972386T>G ENST00000326648.3 + 6 3900 c.3772T>G c.(3772-3774)Tcc>Gcc p.S1258A NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 1258 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTCCACAGGTTCCTACCTGCC 0.507000 17 66 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771432 143771432 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:143771432G>A ENST00000408898.2 + 1 158 c.120G>A c.(118-120)ggG>ggA p.G40G NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TTCTGTTGGGGAACGGGACAA 0.542000 18 61 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141625402 141625402 + Splice_Site SNP A A C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:141625402A>C ENST00000389484.3 - 27 5307 c.4334_splice c.e27-1 p.S1446_splice NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1446 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATAGCATCTGACCTACAGAAA 0.358000 TSP Lung(27;0.18) 8 28 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153660549 153660549 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:153660549C>T ENST00000368680.3 + 15 2741 c.2269C>T c.(2269-2271)Cgg>Tgg p.R757W NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 757 Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GCGGGTGACTCGGGGTGAGCA 0.662000 22 60 0 0 1 0 0 TRNT1 51095 broad.mit.edu 37 3 3182321 3182321 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:3182321C>T ENST00000251607.6 + 4 572 c.470C>T c.(469-471)tCt>tTt p.S157F TRNT1_ENST00000280591.6_Missense_Mutation_p.S157F NM_182916.2 NP_886552.2 Q96Q11 TRNT1_HUMAN tRNA nucleotidyl transferase, CCA-adding, 1 157 protein targeting to mitochondrion|tRNA 3'-end processing mitochondrion ATP binding|tRNA adenylyltransferase activity|tRNA binding breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1) 12 Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011) ACTATAAATTCTATGTTTTTA 0.368000 8 27 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10415820 10415820 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:10415820G>A ENST00000226207.5 - 12 1146 c.1052C>T c.(1051-1053)tCc>tTc p.S351F CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 351 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTTATAGATGGACACTCTTTC 0.438000 14 65 0 0 1 0 0 APOBR 55911 broad.mit.edu 37 16 28508933 28508933 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:28508933C>T ENST00000564831.1 + 2 2604 c.2571C>T c.(2569-2571)ccC>ccT p.P857P APOBR_ENST00000328423.5_Silent_p.P848P|APOBR_ENST00000431282.1_Silent_p.P848P NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 848 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 GGCTGGATCCCGCGGGCTCCC 0.632000 5 9 0 0 1 0 0 STARD3 10948 broad.mit.edu 37 17 37814036 37814036 + Silent SNP C C A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:37814036C>A ENST00000336308.5 + 4 524 c.306C>A c.(304-306)gcC>gcA p.A102A STARD3_ENST00000394250.4_Silent_p.A102A|STARD3_ENST00000580611.1_Silent_p.A76A|STARD3_ENST00000544210.2_Silent_p.A102A|STARD3_ENST00000578232.1_3'UTR NM_001165937.1|NM_006804.3 NP_001159409.1|NP_006795.3 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain containing 3 102 MENTAL. cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1) 14 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) AGGTCCTGGCCTTCTTCCGCT 0.647000 25 72 2.46105e-21 2.51854e-21 1 1 0 EYA1 2138 broad.mit.edu 37 8 72211931 72211931 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:72211931C>T ENST00000340726.3 - 8 1220 c.581G>A c.(580-582)gGa>gAa p.G194E EYA1_ENST00000419131.1_Missense_Mutation_p.G189E|EYA1_ENST00000388741.2_Missense_Mutation_p.G160E|EYA1_ENST00000388740.3_Missense_Mutation_p.G161E|EYA1_ENST00000303824.7_Missense_Mutation_p.G188E|EYA1_ENST00000388742.4_Missense_Mutation_p.G194E|EYA1_ENST00000388743.2_Missense_Mutation_p.G193E NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 194 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TGTATATATTCCTGATGATGT 0.303000 19 83 0 0 1 0 0 OR4P4 81300 broad.mit.edu 37 11 55406365 55406365 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:55406365G>A ENST00000314612.2 + 1 532 c.532G>A c.(532-534)Gat>Aat p.D178N NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 CTACTTCTGTGATGTGTATCC 0.383000 12 42 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80623122 80623122 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:80623122G>A ENST00000458043.2 + 7 554 c.548G>A c.(547-549)cGa>cAa p.R183Q OTOGL_ENST00000547103.1_Missense_Mutation_p.R183Q NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GAGGAAATTCGAATTTATGGT 0.353000 6 44 0 0 1 0 0 MYL10 93408 broad.mit.edu 37 7 101259565 101259565 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:101259565C>T ENST00000223167.4 - 6 645 c.468G>A c.(466-468)gaG>gaA p.E156E NM_138403.4 NP_612412.2 Q9BUA6 MYL10_HUMAN myosin, light chain 10, regulatory 156 EF-hand 2. mitochondrion calcium ion binding breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 12 GAATGGTCTCCTCTGGGTCCG 0.587000 12 40 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57574530 57574530 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:57574530C>T ENST00000243077.3 + 33 5933 c.5467C>T c.(5467-5469)Ctt>Ttt p.L1823F NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1823 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTCCGTGGTCCTTCGGAACAG 0.647000 14 85 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 121137196 121137196 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:121137196C>T ENST00000273666.6 + 27 3582 c.3311C>T c.(3310-3312)tCg>tTg p.S1104L STXBP5L_ENST00000471454.1_Missense_Mutation_p.S1080L NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 1104 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GGGGAAGCTTCGGCAGGAAAA 0.458000 3 20 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26552785 26552785 + Nonsense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:26552785G>A ENST00000256737.3 + 8 1623 c.771G>A c.(769-771)tgG>tgA p.W257* ANO3_ENST00000525139.1_Nonsense_Mutation_p.W241*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.W241*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.W111* NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 257 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TCAAAAACTGGATGGCCCAAA 0.443000 25 81 0 0 1 0 0 TSR1 55720 broad.mit.edu 37 17 2233846 2233846 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:2233846G>A ENST00000301364.4 - 10 2812 c.1733C>T c.(1732-1734)cCc>cTc p.P578L NM_018128.4 NP_060598.3 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 578 ribosome assembly nucleolus protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 20 TGCAATCAAGGGTGTTCCTTG 0.468000 10 39 0 0 1 0 0 CPNE3 8895 broad.mit.edu 37 8 87541219 87541219 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:87541219C>T ENST00000521271.1 + 4 341 c.179C>T c.(178-180)tCc>tTc p.S60F CPNE3_ENST00000198765.4_Missense_Mutation_p.S60F NM_003909.3 NP_003900.1 O75131 CPNE3_HUMAN copine III 60 C2 1. lipid metabolic process|vesicle-mediated transport cytosol calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 23 CCCCAATTTTCCAAGACATTT 0.368000 24 40 0 0 1 0 0 NOC2L 26155 broad.mit.edu 37 1 892590 892590 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:892590G>A ENST00000327044.6 - 3 292 c.243C>T c.(241-243)ccC>ccT p.P81P NOC2L_ENST00000487214.1_5'UTR NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 81 nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) TGTAGAACTCGGGGTCTCTGT 0.597000 18 82 0 0 1 0 0 TECPR1 25851 broad.mit.edu 37 7 97870503 97870503 + Silent SNP G G A rs79739157 TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:97870503G>A ENST00000447648.2 - 7 1010 c.711C>T c.(709-711)tcC>tcT p.S237S TECPR1_ENST00000542604.1_Silent_p.S167S|TECPR1_ENST00000379795.3_Silent_p.S237S Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 237 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TGTCCAGCAGGGACCAGGAGG 0.637000 15 58 0 0 1 0 0 AFAP1L1 134265 broad.mit.edu 37 5 148679089 148679089 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:148679089C>T ENST00000296721.4 + 2 132 c.34C>T c.(34-36)Cca>Tca p.P12S AFAP1L1_ENST00000515000.1_Missense_Mutation_p.P12S|AFAP1L1_ENST00000522492.1_3'UTR NM_001146337.1|NM_152406.2 NP_001139809.1|NP_689619.1 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 12 protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGCTGCTCCCAGAGCTCAC 0.642000 11 37 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69434044 69434044 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:69434044C>T ENST00000317746.2 - 1 201 c.159G>A c.(157-159)gtG>gtA p.V53V NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 53 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 TCAACACAATCACCTCATGAC 0.403000 51 66 0 0 1 0 0 CDK17 5128 broad.mit.edu 37 12 96674610 96674610 + Nonsense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:96674610G>A ENST00000261211.3 - 16 2113 c.1510C>T c.(1510-1512)Cga>Tga p.R504* CDK17_ENST00000542666.1_Nonsense_Mutation_p.R451*|CDK17_ENST00000543119.2_Nonsense_Mutation_p.R504* NM_001170464.2|NM_002595.4 NP_001163935.1|NP_002586.2 Q00537 CDK17_HUMAN cyclin-dependent kinase 17 504 ATP binding|cyclin-dependent protein kinase activity p.R504*(1) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 GAAGAATTTCGAAAACCCGGG 0.343000 5 20 0 0 1 0 0 CCDC67 159989 broad.mit.edu 37 11 93148220 93148220 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:93148220G>A ENST00000298050.3 + 13 1678 c.1578G>A c.(1576-1578)tcG>tcA p.S526S CCDC67_ENST00000525646.1_Silent_p.S268S NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 526 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) TGCCACCTTCGACATTTCAAG 0.413000 18 60 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 981199 981199 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:981199C>T ENST00000379370.2 + 15 2673 c.2623C>T c.(2623-2625)Ccc>Tcc p.P875S NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 875 Laminin EGF-like 2. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GGTGGCTGGACCCAAGTGTGG 0.672000 33 91 0 0 1 0 0 USP3 9960 broad.mit.edu 37 15 63855103 63855103 + Missense_Mutation SNP A A G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:63855103A>G ENST00000536001.1 + 6 544 c.460A>G c.(460-462)Aga>Gga p.R154G USP3_ENST00000559711.1_Silent_p.V130V|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000539772.1_5'UTR|USP3_ENST00000380324.3_Silent_p.V219V|USP3_ENST00000268049.7_Silent_p.V197V|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Silent_p.V202V|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000540797.1_Silent_p.V175V Q9Y6I4 UBP3_HUMAN ubiquitin specific peptidase 3 0 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(3)|large_intestine(7)|lung(4) 14 GBM - Glioblastoma multiforme(80;0.0187) GGTCTTTGGTAGAAGAGTTTA 0.423000 24 100 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141736065 141736065 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:141736065C>T ENST00000475668.2 + 17 2110 c.2056C>T c.(2056-2058)Cac>Tac p.H686Y MGAM_ENST00000549489.2_Missense_Mutation_p.H686Y O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 686 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) TTCTAGAAATCACAATGGCCA 0.478000 3 18 0 0 1 0 0 IGHV1-2 28474 broad.mit.edu 37 14 106452920 106452920 + RNA SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:106452920C>T ENST00000390594.2 - 0 165 TCACTGAGGCCCCAGGCTTCT 0.592000 26 32 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35331759 35331759 + Silent SNP G G A rs139407093 TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:35331759G>A ENST00000373347.1 - 12 3133 c.2865C>T c.(2863-2865)tcC>tcT p.S955S DLGAP3_ENST00000235180.4_Silent_p.S955S O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 955 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) TGTGGCGGAAGGAAGCGGCGC 0.746000 9 15 0 0 1 0 0 NUDT12 83594 broad.mit.edu 37 5 102894633 102894633 + Missense_Mutation SNP T T A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:102894633T>A ENST00000230792.2 - 3 839 c.743A>T c.(742-744)tAc>tTc p.Y248F NUDT12_ENST00000507423.1_Missense_Mutation_p.Y230F NM_031438.2 NP_113626.1 Q9BQG2 NUD12_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 12 248 nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1) 12 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) ATGAAGAAAGTAACAATTTTC 0.403000 7 26 0 0 1 0 0 SHC3 53358 broad.mit.edu 37 9 91653042 91653042 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:91653042C>T ENST00000375835.4 - 11 1828 c.1522G>A c.(1522-1524)Gag>Aag p.E508K SHC3_ENST00000375830.1_Missense_Mutation_p.E56K|SHC3_ENST00000375831.1_Missense_Mutation_p.E56K NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 508 SH2. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 CCCTCTGCCTCCTTCCTGCTC 0.597000 69 197 0 0 1 0 0 BAAT 570 broad.mit.edu 37 9 104125279 104125279 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:104125279C>T ENST00000259407.2 - 4 796 c.688G>A c.(688-690)Ggg>Agg p.G230R BAAT_ENST00000395051.3_Missense_Mutation_p.G230R NM_001127610.1|NM_001701.3 NP_001121082.1|NP_001692.1 Q14032 BAAT_HUMAN bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) 230 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) GAGACTACCCCAACGCCTGAG 0.388000 11 41 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113425033 113425033 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:113425033C>T ENST00000392583.2 + 2 575 c.368C>T c.(367-369)tCc>tTc p.S123F OAS2_ENST00000449768.2_Missense_Mutation_p.S123F|RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.S123F NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 123 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 ATCCAGAAGTCCCTTGATGGG 0.468000 6 45 0 0 1 0 0 RNF112 7732 broad.mit.edu 37 17 19317917 19317917 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:19317917C>T ENST00000461366.1 + 9 1167 c.952C>T c.(952-954)Cgt>Tgt p.R318C NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 318 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 CCTCTTAGTTCGTGACTCATC 0.597000 9 29 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158254006 158254006 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:158254006G>A ENST00000296526.7 + 7 1243 c.918G>A c.(916-918)gtG>gtA p.V306V GRIA2_ENST00000507898.1_Silent_p.V259V|GRIA2_ENST00000264426.9_Silent_p.V306V|GRIA2_ENST00000393815.2_Silent_p.V259V|GRIA2_ENST00000449365.1_Silent_p.V259V NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 306 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CCGTTCAAGTGATGACTGAAG 0.493000 30 91 0 0 1 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545246 234545246 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:234545246G>A ENST00000344644.5 + 1 147 c.78G>A c.(76-78)ggG>ggA p.G26G UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.G26G NM_019075.2 NP_061948.1 p.G26G(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) CCGAGGCAGGGAAGCTGCTGG 0.587000 22 84 0 0 1 0 0 SEC14L3 266629 broad.mit.edu 37 22 30864570 30864570 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr22:30864570G>A ENST00000403066.1 - 6 454 c.171C>T c.(169-171)acC>acT p.T57T SEC14L3_ENST00000402286.1_Silent_p.T39T|SEC14L3_ENST00000539629.1_Silent_p.T57T|SEC14L3_ENST00000540910.1_Silent_p.T39T|SEC14L3_ENST00000215812.4_Silent_p.T116T|SEC14L3_ENST00000401751.1_Silent_p.T57T|SEC14L3_ENST00000415957.2_Silent_p.T57T Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 116 integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) GGTCCTGCTTGGTGACTGAGA 0.592000 39 46 0 0 1 0 0 DIAPH1 1729 broad.mit.edu 37 5 140953277 140953277 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:140953277G>A ENST00000253811.6 - 16 2280 c.2140C>T c.(2140-2142)Cca>Tca p.P714S DIAPH1_ENST00000389057.5_Missense_Mutation_p.P705S|DIAPH1_ENST00000520569.1_Missense_Mutation_p.P660S|DIAPH1_ENST00000518047.1_Missense_Mutation_p.P705S|DIAPH1_ENST00000398566.3_Missense_Mutation_p.P705S|DIAPH1_ENST00000398562.2_Missense_Mutation_p.P693S|DIAPH1_ENST00000398557.4_Missense_Mutation_p.P714S|DIAPH1_ENST00000389054.3_Missense_Mutation_p.P714S O60610 DIAP1_HUMAN diaphanous-related formin 1 714 FH1. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGGAGGTGGCATTCCTGCT 0.622000 4 7 0 0 1 0 0 ADHFE1 137872 broad.mit.edu 37 8 67372671 67372671 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:67372671C>T ENST00000396623.3 + 13 1322 c.1291C>T c.(1291-1293)Ccc>Tcc p.P431S ADHFE1_ENST00000496501.1_3'UTR|C8orf46_ENST00000482608.2_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.P383S NM_144650.2 NP_653251.2 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 431 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding p.P383fs*3(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 29 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) AGCTGATATCCCCGCACTAGT 0.542000 28 119 0 0 1 0 0 SLC36A4 120103 broad.mit.edu 37 11 92881867 92881867 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:92881867G>A ENST00000326402.4 - 11 1481 c.1351C>T c.(1351-1353)Ctg>Ttg p.L451L SLC36A4_ENST00000529184.1_Silent_p.L316L NM_152313.2 NP_689526.2 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid symporter), member 4 451 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) ATATTTTTCAGGACCATCCAT 0.373000 13 55 0 0 1 0 0 PURG 29942 broad.mit.edu 37 8 30889975 30889975 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:30889975G>A ENST00000475541.1 - 1 1256 c.324C>T c.(322-324)tcC>tcT p.S108S PURG_ENST00000339382.2_Silent_p.S108S NM_013357.2 NP_037489.1 Q9UJV8 PURG_HUMAN purine-rich element binding protein G 108 nucleus DNA binding endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) CCACAGACAGGGAGAGGGTCA 0.582000 16 81 0 0 1 0 0 BCAM 4059 broad.mit.edu 37 19 45316828 45316828 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:45316828G>A ENST00000391955.1 + 6 779 c.735G>A c.(733-735)gaG>gaA p.E245E BCAM_ENST00000270233.6_Silent_p.E245E P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 245 Ig-like V-type 2. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) GCCTGCCCGAGGGCCGCCACG 0.672000 27 110 0 0 1 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30862850 30862850 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:30862850G>A ENST00000251071.5 - 18 4120 c.3370C>T c.(3370-3372)Ctt>Ttt p.L1124F CAPRIN2_ENST00000308433.5_Missense_Mutation_p.L790F|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.L1074F|CAPRIN2_ENST00000395805.2_3'UTR NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 1124 C1q. negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TCTTGATAAAGAAGATAGCCT 0.393000 18 50 0 0 1 0 0 NOD1 10392 broad.mit.edu 37 7 30491986 30491986 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:30491986G>A ENST00000222823.4 - 6 1572 c.1047C>T c.(1045-1047)ctC>ctT p.L349L NOD1_ENST00000423334.2_3'UTR NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 349 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 AGAAGCCCCGGAGAAGCACCT 0.677000 16 40 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4566869 4566869 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:4566869C>T ENST00000360213.1 + 1 449 c.449C>T c.(448-450)tCt>tTt p.S150F NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GGGCTTGTTTCTCTCCTCCGG 0.527000 22 59 0 0 1 0 0 BMP3 651 broad.mit.edu 37 4 81967420 81967420 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:81967420C>T ENST00000282701.2 + 2 1165 c.845C>T c.(844-846)tCc>tTc p.S282F NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 282 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 GCTGCCCTTTCCATTGAGCGG 0.507000 20 70 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69970276 69970276 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:69970276G>A ENST00000359154.2 + 19 2139 c.2038G>A c.(2038-2040)Ggc>Agc p.G680S WWP2_ENST00000542271.1_Missense_Mutation_p.G564S|WWP2_ENST00000448661.1_Missense_Mutation_p.G680S|WWP2_ENST00000356003.2_Missense_Mutation_p.G680S|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_Missense_Mutation_p.G241S NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 680 HECT. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GGAGATACTGGGCAAGGTGAC 0.582000 20 34 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13615286 13615286 + Splice_Site SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:13615286C>T ENST00000040738.5 - 5 1310 c.e5-1 NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 DNA binding AAAGAGAAATCTTCAAGCGGA 0.313000 9 11 0 0 1 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18637199 18637199 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:18637199G>A ENST00000336349.5 - 3 857 c.622C>T c.(622-624)Ctt>Ttt p.L208F NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 208 breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 TTTCGTTCAAGGAATTCTCGC 0.443000 26 103 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71532636 71532636 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:71532636G>A ENST00000265382.3 + 9 1249 c.944G>A c.(943-945)gGg>gAg p.G315E PIP5K1B_ENST00000541509.1_Missense_Mutation_p.G315E NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 315 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) CAGGGTCCAGGGAAATCTGGA 0.527000 13 54 0 0 1 0 0 OSBPL10 114884 broad.mit.edu 37 3 31789438 31789438 + Nonsense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:31789438G>A ENST00000396556.2 - 5 1026 c.904C>T c.(904-906)Cag>Tag p.Q302* OSBPL10_ENST00000438237.2_Nonsense_Mutation_p.Q238*|OSBPL10_ENST00000467647.1_5'UTR NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 302 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) TGGCCCGCCTGGTGCACACTC 0.612000 27 105 0 0 1 0 0 ANGEL1 23357 broad.mit.edu 37 14 77275455 77275455 + Missense_Mutation SNP G G A rs143581712 TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:77275455G>A ENST00000251089.2 - 2 708 c.596C>T c.(595-597)cCc>cTc p.P199L NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 199 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) GCCCTCAAAGGGCCAGATGGA 0.602000 7 23 0 0 1 0 0 SCAF4 57466 broad.mit.edu 37 21 33044427 33044427 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr21:33044427G>A ENST00000286835.7 - 20 3111 c.2729C>T c.(2728-2730)cCa>cTa p.P910L SCAF4_ENST00000399804.1_Missense_Mutation_p.P888L|SCAF4_ENST00000434667.3_Missense_Mutation_p.P895L NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 910 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 GCCATGCGGTGGGAAGGGACC 0.667000 18 48 0 0 1 0 0 AKAP1 8165 broad.mit.edu 37 17 55183091 55183091 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:55183091C>T ENST00000337714.3 + 2 499 c.266C>T c.(265-267)cCt>cTt p.P89L AKAP1_ENST00000571629.1_Missense_Mutation_p.P89L|AKAP1_ENST00000314126.3_Missense_Mutation_p.P89L|AKAP1_ENST00000572557.1_Missense_Mutation_p.P89L|AKAP1_ENST00000539273.1_Missense_Mutation_p.P89L NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 89 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) AGCAAGCTGCCTGCAGAGCCC 0.572000 7 37 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118771389 118771389 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:118771389G>A ENST00000334801.3 - 6 4027 c.3063C>T c.(3061-3063)tcC>tcT p.S1021S BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1021 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GCTTGTTCTGGGAGACCCCCG 0.632000 30 124 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17764938 17764938 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:17764938G>A ENST00000378814.5 - 37 4676 c.4677C>T c.(4675-4677)gcC>gcT p.A1559A KIF13A_ENST00000378843.2_Silent_p.A1559A|KIF13A_ENST00000378826.2_Silent_p.A1572A|KIF13A_ENST00000378816.5_Silent_p.A1572A|KIF13A_ENST00000259711.6_Silent_p.A1607A NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1607 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CAGACAGGGTGGCATTGGAGG 0.542000 4 10 0 0 1 0 0 ERAP1 51752 broad.mit.edu 37 5 96124332 96124332 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:96124332C>T ENST00000296754.3 - 11 1838 c.1581G>A c.(1579-1581)caG>caA p.Q527Q ERAP1_ENST00000443439.2_Silent_p.Q527Q NM_016442.3 NP_057526.3 Q9NZ08 ERAP1_HUMAN endoplasmic reticulum aminopeptidase 1 527 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) GAAAACCCTTCTGCAGTGTCC 0.507000 12 32 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115997400 115997400 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:115997400C>T ENST00000264363.2 - 2 1471 c.793G>A c.(793-795)Gga>Aga p.G265R NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 265 Heparan sulfate N-deacetylase 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) CTCTGAATTCCATCATGAAGC 0.433000 33 93 0 0 1 0 0 RBM27 54439 broad.mit.edu 37 5 145616925 145616925 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:145616925C>T ENST00000265271.5 + 8 1375 c.1209C>T c.(1207-1209)ccC>ccT p.P403P RBM27_ENST00000506502.1_Silent_p.P403P NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 403 Pro-rich. mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGCAGTGCCCAATCTTGCAT 0.428000 30 63 0 0 1 0 0 TRIM67 440730 broad.mit.edu 37 1 231349659 231349659 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:231349659C>T ENST00000444294.3 + 9 3074 c.2216C>T c.(2215-2217)cCc>cTc p.P739L TRIM67_ENST00000366653.5_Missense_Mutation_p.P741L|TRIM67_ENST00000366652.2_Missense_Mutation_p.P741L|TRIM67_ENST00000449018.3_Missense_Mutation_p.P679L NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 741 B30.2/SPRY. cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) CAGCAGGGCCCCACAGCCTTC 0.647000 12 50 0 0 1 0 0 MTHFD2L 441024 broad.mit.edu 37 4 75040305 75040305 + Missense_Mutation SNP T T A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:75040305T>A ENST00000395759.2 + 2 253 c.226T>A c.(226-228)Tcc>Acc p.S76T MTHFD2L_ENST00000433372.1_5'UTR|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.S18T|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.S18T NM_001144978.1 NP_001138450.1 Q9H903 MTD2L_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like 18 folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2) 8 all cancers(17;0.0101)|Lung(101;0.196) ATCATGGGTTTCCCTTGGAAA 0.423000 9 23 0 0 1 0 0 CNKSR3 154043 broad.mit.edu 37 6 154735476 154735476 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:154735476C>T ENST00000607772.1 - 10 1571 c.1027G>A c.(1027-1029)Gat>Aat p.D343N CNKSR3_ENST00000479339.1_Missense_Mutation_p.D263N|CNKSR3_ENST00000433165.2_Missense_Mutation_p.D168N NM_173515.2 NP_775786.2 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 343 DUF1170. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 15 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) ATATAAAGATCCAGGATGGCT 0.498000 21 26 0 0 1 0 0 ZNF454 285676 broad.mit.edu 37 5 178392081 178392081 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:178392081C>T ENST00000320129.3 + 5 979 c.676C>T c.(676-678)Cac>Tac p.H226Y ZNF454_ENST00000519564.1_Missense_Mutation_p.H226Y NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) GAAAGCCTTTCACCAGAGTAC 0.373000 23 64 0 0 1 0 0 PUS3 83480 broad.mit.edu 37 11 125763873 125763873 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:125763873G>A ENST00000227474.3 - 4 1350 c.1253C>T c.(1252-1254)cCt>cTt p.P418L HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000530811.1_Missense_Mutation_p.P418L NM_001271985.1|NM_031307.3 NP_001258914.1|NP_112597.3 Q9BZE2 PUS3_HUMAN pseudouridylate synthase 3 418 nucleus RNA binding NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043) TTGGCATTTAGGACGGTCCAT 0.468000 32 126 0 0 1 0 0 SLTM 79811 broad.mit.edu 37 15 59179516 59179516 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:59179516G>A ENST00000380516.2 - 18 2686 c.2599C>T c.(2599-2601)Cct>Tct p.P867S SLTM_ENST00000536328.1_Missense_Mutation_p.P436S NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 867 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGATGTCTAGGATGAGTGATA 0.502000 20 72 0 0 1 0 0 GDF5 8200 broad.mit.edu 37 20 34021881 34021881 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr20:34021881C>T ENST00000374372.1 - 4 1835 c.1332G>A c.(1330-1332)acG>acA p.T444T GDF5OS_ENST00000374375.1_5'UTR|GDF5_ENST00000374369.3_Silent_p.T444T P43026 GDF5_HUMAN growth differentiation factor 5 444 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) CTGCATGATTCGTGGGCTCCA 0.612000 12 29 0 0 1 0 0 C5AR1 728 broad.mit.edu 37 19 47823710 47823710 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:47823710C>T ENST00000355085.3 + 2 698 c.676C>T c.(676-678)Ctg>Ttg p.L226L NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 226 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) CACTTTCATCCTGCTCCGGAC 0.612000 38 106 0 0 1 0 0 HAND1 9421 broad.mit.edu 37 5 153855435 153855435 + Silent SNP T T A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:153855435T>A ENST00000231121.2 - 2 834 c.579A>T c.(577-579)ccA>ccT p.P193P NM_004821.2 NP_004812.1 O96004 HAND1_HUMAN heart and neural crest derivatives expressed 1 193 angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis cytoplasm|nucleolus|nucleoplasm bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) TCTTCTCGACTGGGCCCAGGG 0.597000 15 54 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10036179 10036179 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr20:10036179G>A ENST00000378380.3 + 10 2531 c.2202G>A c.(2200-2202)gaG>gaA p.E734E ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Silent_p.E734E|SNAP25-AS1_ENST00000421143.2_RNA NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 CAACAGCAGAGCTGATCAGGA 0.438000 11 34 0 0 1 0 0 SUN5 140732 broad.mit.edu 37 20 31590456 31590456 + Silent SNP G G A rs6120080 TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr20:31590456G>A ENST00000356173.3 - 3 240 c.148C>T c.(148-150)Ctg>Ttg p.L50L SUN5_ENST00000375523.3_Intron|SUN5_ENST00000375519.2_Silent_p.L50L NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 50 spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 ACAGGCAACAGGATGTTGTCA 0.507000 9 36 0 0 1 0 0 ZNF550 162972 broad.mit.edu 37 19 58059143 58059143 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:58059143G>A ENST00000325134.5 - 3 529 c.373C>T c.(373-375)Ctt>Ttt p.L125F ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.L116F|ZNF550_ENST00000457177.1_Missense_Mutation_p.L157F Q7Z398 ZN550_HUMAN zinc finger protein 550 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 7 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCACCTTCAAGGCTCACTTTC 0.507000 69 286 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15730382 15730382 + RNA SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:15730382G>A ENST00000441682.2 + 0 461 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 GACGGGACGGGGACCAACTTT 0.532000 3 27 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19571761 19571761 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:19571761C>T ENST00000507958.1 - 10 2170 c.1180G>A c.(1180-1182)Gaa>Aaa p.E394K CDH18_ENST00000502796.1_Missense_Mutation_p.E394K|CDH18_ENST00000506372.1_Missense_Mutation_p.E394K|CDH18_ENST00000382275.1_Missense_Mutation_p.E394K|CDH18_ENST00000511273.1_Missense_Mutation_p.E394K|CDH18_ENST00000274170.4_Missense_Mutation_p.E394K Q13634 CAD18_HUMAN cadherin 18, type 2 394 Cadherin 4. 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) TTGGCATTTTCGTAGACTTCC 0.433000 15 55 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52249974 52249974 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:52249974G>A ENST00000595042.1 - 3 415 c.274C>T c.(274-276)Cct>Tct p.P92S FPR1_ENST00000304748.4_Missense_Mutation_p.P92S NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 92 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) CAGCCGAAAGGCCAATGTCCT 0.517000 17 62 0 0 1 0 0 GFRAL 389400 broad.mit.edu 37 6 55216331 55216331 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:55216331C>T ENST00000340465.2 + 5 737 c.651C>T c.(649-651)ccC>ccT p.P217P NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 217 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TGGTTCCACCCCCTACTTGCC 0.428000 14 52 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24304759 24304759 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:24304759C>T ENST00000175238.6 + 3 300 c.217C>T c.(217-219)Cat>Tat p.H73Y ADAM7_ENST00000441335.2_Missense_Mutation_p.H73Y|ADAM7_ENST00000380789.1_Missense_Mutation_p.H73Y|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 73 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CTTAGTCCTTCATCTTCTAAG 0.338000 7 62 0 0 1 0 0 TRAV27 28655 broad.mit.edu 37 14 22616352 22616352 + RNA SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:22616352C>T ENST00000390457.2 + 0 190 TTCTAAGCATCCAAGAGGGAG 0.512000 10 35 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28991317 28991317 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr18:28991317G>A ENST00000359747.4 + 14 2347 c.2318G>A c.(2317-2319)gGg>gAg p.G773E RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.G754E|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 754 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ggagcctcaggggccgcaAGG 0.622000 9 48 0 0 1 0 0 NIPAL1 152519 broad.mit.edu 37 4 48037036 48037036 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:48037036G>A ENST00000295461.5 + 5 666 c.600G>A c.(598-600)atG>atA p.M200I NIPAL1_ENST00000508180.1_3'UTR NM_207330.1 NP_997213.1 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 200 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 TGCATGAAATGGAAATGAAAT 0.388000 11 52 0 0 1 0 0 TUBB8 347688 broad.mit.edu 37 10 94597 94597 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr10:94597C>T ENST00000447903.2 - 3 334 c.19G>A c.(19-21)Ggg>Agg p.G7R TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_Silent_p.R42R|TUBB8_ENST00000309812.4_Missense_Mutation_p.G79R Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 79 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) CCGAAGGGCCCCGAGCGCACA 0.672000 22 55 0 0 1 0 0 LINC01317 104355287 broad.mit.edu 37 2 33952676 33952676 + RNA SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:33952676G>A ENST00000366209.2 + 0 68 MYADML_ENST00000474610.1_RNA GTGGTCGCGGGAACGGCCGTG 0.637000 7 32 0 0 1 0 0 UGT1A4 54657 broad.mit.edu 37 2 234627798 234627798 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:234627798C>T ENST00000373409.3 + 1 375 c.332C>T c.(331-333)tCt>tTt p.S111F UGT1A8_ENST00000373450.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron NM_007120.2 NP_009051.1 p.S111Y(1) autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) AAGAGATATTCTAGAAGTATG 0.448000 29 112 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92577751 92577751 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:92577751G>A ENST00000298047.6 + 18 11235 c.11218G>A c.(11218-11220)Gag>Aag p.E3740K FAT3_ENST00000409404.2_Missense_Mutation_p.E3740K|FAT3_ENST00000533797.1_Missense_Mutation_p.E75K|FAT3_ENST00000525166.1_Missense_Mutation_p.E3590K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3740 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGCCATCTTGGAGAAGAACTG 0.537000 TCGA Ovarian(4;0.039) 7 19 0 0 1 0 0 POLA1 5422 broad.mit.edu 37 X 24734549 24734549 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chrX:24734549C>T ENST00000379068.3 + 7 639 c.596C>T c.(595-597)cCt>cTt p.P199L POLA1_ENST00000379059.3_Missense_Mutation_p.P193L P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 193 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) TCACCGAATCCTTTCTCTGTG 0.388000 9 5 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150525595 150525595 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:150525595G>A ENST00000271643.4 + 5 536 c.300G>A c.(298-300)caG>caA p.Q100Q ADAMTSL4_ENST00000369039.5_Silent_p.Q100Q|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Silent_p.Q100Q|ADAMTSL4_ENST00000369041.5_Silent_p.Q100Q NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 100 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CCCGGGGCCAGGGTCCCAGAC 0.667000 7 51 0 0 1 0 0 IL4R 3566 broad.mit.edu 37 16 27356218 27356218 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:27356218G>A ENST00000395762.2 + 5 497 c.238G>A c.(238-240)Gga>Aga p.G80R IL4R_ENST00000170630.2_Missense_Mutation_p.G80R|IL4R_ENST00000449195.1_Missense_Mutation_p.G80R|IL4R_ENST00000543915.2_Missense_Mutation_p.G80R|IL4R_ENST00000380922.3_Missense_Mutation_p.G65R NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 80 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity p.G80*(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 TGAGAACAACGGAGGCGCGGG 0.627000 13 43 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64122706 64122706 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:64122706C>T ENST00000359902.2 + 12 1604 c.1454C>T c.(1453-1455)cCc>cTc p.P485L CCDC88B_ENST00000356786.5_Silent_p.S1380S|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_Silent_p.S43S A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 1333 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCCAGAGCTCCCTCTGCCTGC 0.672000 3 12 0 0 1 0 0 OR5P2 120065 broad.mit.edu 37 11 7818288 7818288 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:7818288C>T ENST00000329434.2 - 1 232 c.202G>A c.(202-204)Gcc>Acc p.A68T RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A68S(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GATGAATAGGCCATGTCAGCA 0.438000 23 63 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41385271 41385271 + Nonsense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr20:41385271C>T ENST00000373198.3 - 6 925 c.690G>A c.(688-690)tgG>tgA p.W230* PTPRT_ENST00000373190.1_Nonsense_Mutation_p.W230*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.W230*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.W230*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.W230*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.W230*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.W230* NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 230 Ig-like C2-type. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCCTGCCATTCCATTGCTGCA 0.577000 7 10 0 0 1 0 0 KIAA1522 57648 broad.mit.edu 37 1 33236283 33236283 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:33236283C>T ENST00000401073.2 + 6 1573 c.1503C>T c.(1501-1503)ccC>ccT p.P501P KIAA1522_ENST00000373480.1_Silent_p.P442P|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.P453P NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 442 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CACCCCCTCCCCGCCGGACCC 0.652000 7 15 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558548 129558548 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:129558548C>T ENST00000422113.2 - 9 3498 c.3172G>A c.(3172-3174)Gag>Aag p.E1058K TMEM132D_ENST00000389441.4_Missense_Mutation_p.E596K NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 1058 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GTGGGGTACTCGTCGTCTGAG 0.512000 26 82 0 0 1 0 0 ZDHHC23 254887 broad.mit.edu 37 3 113672684 113672684 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:113672684C>T ENST00000330212.3 + 3 598 c.299C>T c.(298-300)cCt>cTt p.P100L ZDHHC23_ENST00000498275.1_Missense_Mutation_p.P94L NM_173570.3 NP_775841.2 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC-type containing 23 100 integral to membrane acyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2) 16 GTCCTGCTGCCTGTCTTCCTT 0.512000 41 149 0 0 1 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99358187 99358187 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:99358187C>T ENST00000408927.3 + 14 1777 c.1664C>T c.(1663-1665)tCc>tTc p.S555F RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.S506F|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.S507F|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.S556F|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.S555F|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.S464F NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 555 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) AAATATAATTCCATGGTCCTG 0.343000 T NUP98 T-ALL 7 19 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325191 150325191 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:150325191C>T ENST00000328902.5 - 3 711 c.495G>A c.(493-495)aaG>aaA p.K165K GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 165 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCAGGTCTTCCTTCCGGGTGA 0.627000 36 144 0 0 1 0 0 GSK3A 2931 broad.mit.edu 37 19 42740826 42740826 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:42740826C>T ENST00000398249.4 - 3 2065 c.352G>A c.(352-354)Gag>Aag p.E118K AC006486.9_ENST00000594664.1_Missense_Mutation_p.E113K|GSK3A_ENST00000222330.3_Missense_Mutation_p.E200K P49840 GSK3A_HUMAN glycogen synthase kinase 3 alpha 200 insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process beta-catenin destruction complex|cytosol ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 19 Prostate(69;0.00682) TACACTGTCTCGGGCACATAT 0.572000 22 82 0 0 1 0 0 PHGDH 26227 broad.mit.edu 37 1 120285521 120285521 + Missense_Mutation SNP C C A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:120285521C>A ENST00000369407.3 + 10 2706 c.1199C>A c.(1198-1200)gCt>gAt p.A400D PHGDH_ENST00000369409.4_Missense_Mutation_p.A434D|PHGDH_ENST00000482968.1_3'UTR O43175 SERA_HUMAN phosphoglycerate dehydrogenase 434 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) CCTTACCAGGCTGTGGGCTTG 0.657000 12 45 2.27111e-07 2.30552e-07 1 1 0 ACSF2 80221 broad.mit.edu 37 17 48539889 48539889 + Silent SNP C C T rs141937528 TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:48539889C>T ENST00000427954.2 + 7 853 c.810C>T c.(808-810)ctC>ctT p.L270L ACSF2_ENST00000502667.1_Silent_p.L232L|ACSF2_ENST00000504392.1_Silent_p.L202L|ACSF2_ENST00000300441.4_Silent_p.L245L|ACSF2_ENST00000541920.1_Silent_p.L85L Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 245 fatty acid metabolic process mitochondrion ATP binding|ligase activity endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1) 13 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) TGGACCAGCTCCAATACAACC 0.602000 13 51 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43204725 43204725 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr18:43204725G>A ENST00000255226.6 + 2 912 c.96G>A c.(94-96)tcG>tcA p.S32S SLC14A2_ENST00000586448.1_Silent_p.S32S NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 32 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GCTGGCCCTCGACATCCCCGG 0.572000 23 79 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909622 123909622 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:123909622G>A ENST00000330487.5 - 1 95 c.87C>T c.(85-87)ttC>ttT p.F29F NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AAACCACCAGGAAGATTCCAA 0.562000 9 80 0 0 1 0 0 PIGT 51604 broad.mit.edu 37 20 44048200 44048200 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr20:44048200C>T ENST00000279036.6 + 5 731 c.651C>T c.(649-651)tcC>tcT p.S217S PIGT_ENST00000341555.5_Intron|PIGT_ENST00000543458.2_Silent_p.S161S|PIGT_ENST00000372689.5_Silent_p.S217S|PIGT_ENST00000279035.9_Silent_p.S115S|PIGT_ENST00000535404.1_Silent_p.S62S|PIGT_ENST00000545755.1_5'UTR NM_015937.5 NP_057021.2 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, class T 217 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1) 22 Myeloproliferative disorder(115;0.0122) GCTACCACTCCCAGGCAGTGC 0.542000 39 110 0 0 1 0 0 TAS2R46 259292 broad.mit.edu 37 12 11214051 11214051 + Nonsense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:11214051C>T ENST00000533467.1 - 1 842 c.843G>A c.(841-843)tgG>tgA p.W281* TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176887.2 NP_795368.2 P59540 T2R46_HUMAN taste receptor, type 2, member 46 281 sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) TCTTGTTTCCCCAAATCAGGA 0.428000 20 168 0 0 1 0 0 KLK7 5650 broad.mit.edu 37 19 51483677 51483677 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:51483677C>T ENST00000391807.1 - 4 389 c.288G>A c.(286-288)tcG>tcA p.S96S KLK7_ENST00000597707.1_Silent_p.S24S|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Silent_p.S96S|KLK7_ENST00000336317.4_5'UTR NM_139277.2 NP_644806.1 P49862 KLK7_HUMAN kallikrein-related peptidase 7 96 Peptidase S1. epidermis development|proteolysis extracellular region serine-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) GGAATGACTTCGAGGCCTTGA 0.552000 11 38 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1101936 1101936 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:1101936G>A ENST00000441003.2 + 43 7727 c.7700G>A c.(7699-7701)gGg>gAg p.G2567E NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4929 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TGTGTTCACGGGAATGCTGAG 0.677000 4 18 0 0 1 0 0 HPD 3242 broad.mit.edu 37 12 122296618 122296618 + Translation_Start_Site SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:122296618G>A ENST00000543163.1 - 0 333 HPD_ENST00000289004.4_Splice_Site_p.T2_splice NM_001171993.1 NP_001165464.1 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) ACTGTAAGTCGTCTAAGGAGA 0.527000 17 44 0 0 1 0 0 PTGIS 5740 broad.mit.edu 37 20 48156191 48156191 + Missense_Mutation SNP G G T rs139965033 byFrequency TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr20:48156191G>T ENST00000244043.4 - 5 618 c.589C>A c.(589-591)Cgc>Agc p.R197S PTGIS_ENST00000478971.1_5'UTR NM_000961.3 NP_000952.1 Q16647 PTGIS_HUMAN prostaglandin I2 (prostacyclin) synthase 197 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) GAGTGGACGCGGTCCTGGGCC 0.647000 6 17 0.217242 0.217624 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113237052 113237052 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:113237052C>T ENST00000297405.5 - 71 11316 c.11072G>A c.(11071-11073)gGg>gAg p.G3691E CSMD3_ENST00000352409.3_Missense_Mutation_p.G3621E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3651E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3522E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3691 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TACCGCCTTCCCTTCCACTGA 0.428000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 74 114 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1263364 1263364 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:1263364G>A ENST00000447027.1 + 31 5321 c.5263G>A c.(5263-5265)Gag>Aag p.E1755K MUC5B_ENST00000529681.1_Missense_Mutation_p.E1752K Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1752 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACTCACGAGCGAGCTGTCCAC 0.637000 7 21 0 0 1 0 0 ZFR 51663 broad.mit.edu 37 5 32406923 32406923 + Missense_Mutation SNP T T C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:32406923T>C ENST00000265069.8 - 6 1090 c.988A>G c.(988-990)Att>Gtt p.I330V NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 330 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) CAATAGTGAATCTGTGGTGGT 0.428000 21 69 0 0 1 0 0 PTH1R 5745 broad.mit.edu 37 3 46939362 46939362 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:46939362G>A ENST00000313049.5 + 4 534 c.331G>A c.(331-333)Gaa>Aaa p.E111K PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000430002.2_Missense_Mutation_p.E111K|PTH1R_ENST00000418619.1_Missense_Mutation_p.E111K|PTH1R_ENST00000449590.1_Missense_Mutation_p.E111K Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 111 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 CTGTCTGCCGGAATGGGACCA 0.577000 8 31 0 0 1 0 0 FGG 2266 broad.mit.edu 37 4 155526015 155526015 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:155526015C>T ENST00000336098.3 - 9 1371 c.1333G>A c.(1333-1335)Gac>Aac p.D445N FGG_ENST00000407946.1_Missense_Mutation_p.D453N|FGG_ENST00000405164.1_Intron|FGG_ENST00000404648.3_Intron NM_021870.2 NP_068656.2 P02679 FIBG_HUMAN fibrinogen gamma chain 445 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) TAAAGTGAGTCATATTCTGTT 0.428000 17 95 0 0 1 0 0 SDHC 6391 broad.mit.edu 37 1 161332149 161332149 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:161332149C>T ENST00000367975.2 + 6 585 c.436C>T c.(436-438)Ccc>Tcc p.P146S SDHC_ENST00000470743.2_3'UTR|SDHC_ENST00000342751.4_Missense_Mutation_p.S91F|SDHC_ENST00000432287.2_Missense_Mutation_p.P112S|SDHC_ENST00000513009.1_Missense_Mutation_p.S57F|SDHC_ENST00000392169.2_Missense_Mutation_p.P93S NM_003001.3 NP_002992.1 Q99643 C560_HUMAN succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa 146 respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex electron carrier activity|heme binding|succinate dehydrogenase activity urinary_tract(1) 1 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Succinic acid(DB00139) CCTGAAGATTCCCCAGCTATA 0.448000 """Mis, N, F""" """paraganglioma, pheochromocytoma""" Familial Paragangliomas;Carney-Stratakis syndrome 4 19 0 0 1 0 0 GPRIN1 114787 broad.mit.edu 37 5 176026119 176026119 + Silent SNP T T C rs142779818 by1000genomes TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:176026119T>C ENST00000303991.4 - 2 894 c.717A>G c.(715-717)agA>agG p.R239R NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 239 growth cone|plasma membrane NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GATCCACCTTTCTCAAAGACC 0.488000 31 112 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158505192 158505192 + Missense_Mutation SNP A A G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:158505192A>G ENST00000355585.4 + 22 3269 c.3194A>G c.(3193-3195)cAt>cGt p.H1065R SYNJ2_ENST00000367121.3_Missense_Mutation_p.H1065R|SYNJ2_ENST00000367112.1_Missense_Mutation_p.H150R|SYNJ2_ENST00000367122.2_Missense_Mutation_p.H1065R NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1065 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) AAGAAGCAGCATCCAACGTAC 0.557000 27 92 0 0 1 0 0 GNB4 59345 broad.mit.edu 37 3 179137274 179137274 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:179137274G>A ENST00000232564.3 - 4 402 c.116C>T c.(115-117)tCt>tTt p.S39F GNB4_ENST00000468623.1_Missense_Mutation_p.S39F NM_021629.3 NP_067642.1 Q9HAV0 GBB4_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 4 39 cellular response to glucagon stimulus|energy reserve metabolic process plasma membrane signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 16 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) TCGACCCACAGAGTCCATATT 0.383000 14 76 0 0 1 0 0 SHC2 25759 broad.mit.edu 37 19 436390 436390 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:436390G>A ENST00000264554.6 - 6 815 c.816C>T c.(814-816)atC>atT p.I272I NM_012435.2 NP_036567.2 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) transforming protein 2 272 PID. I -> E (in Ref. 3). insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCTCTGGTTGATGGGGTCCT 0.721000 15 48 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600791 29600791 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr13:29600791C>T ENST00000431530.3 + 1 2044 c.1986C>T c.(1984-1986)ccC>ccT p.P662P NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 652 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GGAGGAATCCCCAGGCCCTGG 0.567000 4 18 0 0 1 0 0 RTN4 57142 broad.mit.edu 37 2 55253548 55253548 + Missense_Mutation SNP A A T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:55253548A>T ENST00000337526.6 - 3 1930 c.1687T>A c.(1687-1689)Ttg>Atg p.L563M RTN4_ENST00000357376.3_Missense_Mutation_p.L357M|RTN4_ENST00000405240.1_Missense_Mutation_p.L357M|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.L357M|RTN4_ENST00000354474.6_Missense_Mutation_p.L331M|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.L357M|RTN4_ENST00000357732.4_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 563 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 ACTTCATTCAATTCACTTTCA 0.403000 19 51 0 0 1 0 0 TTYH3 80727 broad.mit.edu 37 7 2698040 2698040 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:2698040C>T ENST00000258796.7 + 12 1576 c.1371C>T c.(1369-1371)acC>acT p.T457T TTYH3_ENST00000403167.1_Silent_p.T286T|TTYH3_ENST00000407643.1_Silent_p.T425T NM_025250.2 NP_079526.1 Q9C0H2 TTYH3_HUMAN tweety family member 3 457 chloride channel complex|plasma membrane chloride channel activity kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 17 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) GCAGTGAGACCAGCATCCCGG 0.687000 5 21 0 0 1 0 0 CRYBB2 1415 broad.mit.edu 37 22 25623892 25623892 + Nonsense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr22:25623892G>A ENST00000398215.2 + 4 417 c.246G>A c.(244-246)tgG>tgA p.W82* NM_000496.2 NP_000487.1 P43320 CRBB2_HUMAN crystallin, beta B2 82 Beta/gamma crystallin 'Greek key' 2. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 ACCCCCGCTGGGACTCATGGA 0.612000 24 65 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 50971419 50971419 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:50971419G>A ENST00000266037.9 + 5 249 c.226G>A c.(226-228)Gaa>Aaa p.E76K NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 76 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TAGGCAGTATGAAACTGTGGT 0.393000 5 15 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27875430 27875430 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:27875430C>T ENST00000374011.2 - 6 4165 c.3197G>A c.(3196-3198)gGt>gAt p.G1066D AHDC1_ENST00000247087.5_Missense_Mutation_p.G1066D|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1066 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) CATGTAGCCACCGGGCGAGAC 0.672000 5 12 0 0 1 0 0 TTLL9 164395 broad.mit.edu 37 20 30510808 30510808 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr20:30510808G>A ENST00000375938.4 + 8 869 c.616G>A c.(616-618)Gag>Aag p.E206K TTLL9_ENST00000375921.2_Missense_Mutation_p.E133K|TTLL9_ENST00000310998.4_Missense_Mutation_p.E156K|TTLL9_ENST00000535842.1_Missense_Mutation_p.E206K|TTLL9_ENST00000375922.4_Missense_Mutation_p.E133K|TTLL9_ENST00000375934.4_Missense_Mutation_p.E188K Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 206 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TATTCCCGTGGAGAACTATGT 0.398000 18 71 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113564878 113564878 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:113564878C>T ENST00000297405.5 - 26 4550 c.4306G>A c.(4306-4308)Gac>Aac p.D1436N CSMD3_ENST00000352409.3_Missense_Mutation_p.D1436N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1396N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1332N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1436 CUB 8. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGGTTATTGTCATATGGAAAA 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 37 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235969138 235969138 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:235969138G>A ENST00000389794.3 - 6 3472 c.3298C>T c.(3298-3300)Ctt>Ttt p.L1100F LYST_ENST00000536965.1_Missense_Mutation_p.L1100F|LYST_ENST00000389793.2_Missense_Mutation_p.L1100F Q99698 LYST_HUMAN lysosomal trafficking regulator 1100 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ATACTTTGAAGTGAGGTCTCA 0.418000 13 44 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940758 144940758 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:144940758C>T ENST00000525985.1 - 2 6735 c.6664G>A c.(6664-6666)Ggc>Agc p.G2222S P58107 EPIPL_HUMAN epiplakin 1 2222 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CAGCTGGTGCCCTCCAGGTAG 0.647000 29 170 0 0 1 0 0 CTTN 2017 broad.mit.edu 37 11 70263215 70263215 + Missense_Mutation SNP A A T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:70263215A>T ENST00000301843.8 + 8 760 c.554A>T c.(553-555)cAc>cTc p.H185L CTTN_ENST00000376561.3_Missense_Mutation_p.H185L|CTTN_ENST00000346329.3_Missense_Mutation_p.H185L NM_005231.3 NP_005222.2 Q14247 SRC8_HUMAN cortactin 185 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) ACGGAGAAGCACGAGTCACAG 0.582000 22 50 0 0 1 0 0 DNAJC5G 285126 broad.mit.edu 37 2 27503057 27503057 + Missense_Mutation SNP G G A rs151006541 byFrequency TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:27503057G>A ENST00000296097.3 + 6 962 c.544G>A c.(544-546)Gag>Aag p.E182K DNAJC5G_ENST00000406962.1_Silent_p.A94A|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.E166K|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.E182K NM_173650.1 NP_775921.1 Q8N7S2 DNJ5G_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 gamma 182 protein folding membrane heat shock protein binding|unfolded protein binding p.E182K(1) cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTTAGAAGCGAGGAAAATAG 0.338000 OREG0014517 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 123 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48624931 48624931 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:48624931C>T ENST00000328333.8 - 22 3021 c.2914G>A c.(2914-2916)Gtg>Atg p.V972M COL7A1_ENST00000454817.1_Missense_Mutation_p.V972M NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 972 Fibronectin type-III 9.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCCAAAGTCACCGAGTCGATC 0.577000 11 42 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24802347 24802347 + Missense_Mutation SNP C C T rs35474263 byFrequency TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:24802347C>T ENST00000395799.3 + 6 2513 c.2384C>T c.(2383-2385)tCc>tTc p.S795F TNRC6A_ENST00000315183.7_Missense_Mutation_p.S795F NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 795 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TGGGGAGATTCCAAAGGCTCA 0.512000 11 27 0 0 1 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99123974 99123974 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:99123974G>A ENST00000394170.2 + 6 1562 c.1311G>A c.(1309-1311)aaG>aaA p.K437K ZKSCAN5_ENST00000451158.1_Silent_p.K437K|ZKSCAN5_ENST00000326775.5_Silent_p.K437K NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 437 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) AGTGTGGGAAGAACTTCGGTC 0.537000 69 189 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66191145 66191145 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:66191145G>A ENST00000311034.2 + 6 1081 c.905G>A c.(904-906)gGt>gAt p.G302D NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 302 PAC. transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 TACTCAGAAGGTCCAGAGGGA 0.537000 26 61 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84609706 84609706 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:84609706G>A ENST00000344803.2 + 4 4368 c.4321G>A c.(4321-4323)Gct>Act p.A1441T NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GCTTGGGAAAGCTCAGCACAA 0.552000 10 23 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9073956 9073956 + Missense_Mutation SNP A A C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:9073956A>C ENST00000397910.4 - 3 13693 c.13490T>G c.(13489-13491)tTg>tGg p.L4497W NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4499 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCTTGTGTTCAACATATCTGT 0.453000 21 74 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3241018 3241018 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chrX:3241018C>T ENST00000217939.6 - 5 2862 c.2708G>A c.(2707-2709)gGa>gAa p.G903E NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 903 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTTCAGGTCTCCTTCAGTGGA 0.458000 19 17 0 0 1 0 0 HELQ 113510 broad.mit.edu 37 4 84367239 84367239 + Splice_Site SNP A A G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:84367239A>G ENST00000295488.3 - 5 1555 c.1392_splice c.e5-1 p.L465_splice HELQ_ENST00000510985.1_Splice_Site_p.L398_splice NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 465 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 ATCATGTGCAACTTCGAGATT 0.343000 Other identified genes with known or suspected DNA repair function 16 34 0 0 1 0 0 SULT1A1 6817 broad.mit.edu 37 16 28618383 28618383 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:28618383G>A ENST00000395609.1 - 7 1146 c.388C>T c.(388-390)Cgc>Tgc p.R130C SULT1A1_ENST00000569554.1_Missense_Mutation_p.R130C|SULT1A1_ENST00000395607.1_Missense_Mutation_p.R130C|SULT1A1_ENST00000350842.4_Missense_Mutation_p.R52C|SULT1A1_ENST00000314752.7_Missense_Mutation_p.R130C P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 130 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 TTTGCGTTGCGGGCAACATAG 0.567000 19 49 0 0 1 0 0 DAAM2 23500 broad.mit.edu 37 6 39867948 39867948 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:39867948C>T ENST00000538976.1 + 23 2954 c.2772C>T c.(2770-2772)tcC>tcT p.S924S DAAM2_ENST00000398904.2_Silent_p.S925S|DAAM2_ENST00000274867.4_Silent_p.S925S NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 925 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) TCAGCTTCTCCGAGCTGGAGG 0.572000 4 11 0 0 1 0 0 HCP5 10866 broad.mit.edu 37 6 31431861 31431861 + RNA SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:31431861C>T ENST00000414046.2 + 0 933 NR_040662.1 Q6MZN7 HCP5_HUMAN defense response urinary_tract(1) 1 ggaccttctaccctgcagagt 0.488000 14 54 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124848330 124848330 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:124848330C>T ENST00000356219.3 - 22 2978 c.2823G>A c.(2821-2823)agG>agA p.R941R NCOR2_ENST00000405201.1_Silent_p.R941R|NCOR2_ENST00000404121.2_Silent_p.R494R|NCOR2_ENST00000397355.1_Silent_p.R924R|NCOR2_ENST00000429285.2_Silent_p.R923R|NCOR2_ENST00000404621.1_Silent_p.R923R NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 941 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGAGGCTGGGCCTTGGGGACA 0.701000 11 82 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48624932 48624932 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:48624932C>T ENST00000328333.8 - 22 3020 c.2913G>A c.(2911-2913)tcG>tcA p.S971S COL7A1_ENST00000454817.1_Silent_p.S971S NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 971 Fibronectin type-III 9.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCAAAGTCACCGAGTCGATCG 0.577000 11 41 0 0 1 0 0 CYP2R1 120227 broad.mit.edu 37 11 14902032 14902032 + Missense_Mutation SNP T T A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:14902032T>A ENST00000334636.5 - 3 696 c.650A>T c.(649-651)aAt>aTt p.N217I CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR NM_024514.4 NP_078790.2 Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, polypeptide 1 217 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) TAGTTCCACATTTTCACTAAA 0.388000 15 41 0 0 1 0 0 CASP3 836 broad.mit.edu 37 4 185552963 185552963 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:185552963G>A ENST00000308394.4 - 6 701 c.439C>T c.(439-441)Cgt>Tgt p.R147C CASP3_ENST00000523916.1_Missense_Mutation_p.R147C|CASP3_ENST00000517513.1_Missense_Mutation_p.R147C|CASP3_ENST00000393585.2_Missense_Mutation_p.R147C|CASP3_ENST00000393588.4_Missense_Mutation_p.R147C NM_004346.3 NP_004337.2 P42574 CASP3_HUMAN caspase 3, apoptosis-related cysteine peptidase 147 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) CTTCTACAACGATCCCCTCTG 0.363000 10 47 0 0 1 0 0 RBAK 57786 broad.mit.edu 37 7 5104783 5104783 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:5104783C>T ENST00000396912.1 + 5 2215 c.1696C>T c.(1696-1698)Cct>Tct p.P566S RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.P566S|RBAK_ENST00000396904.2_Intron NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 566 Interaction with AR. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) AGAAGAGAAACCTTATGGATG 0.373000 16 39 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133914439 133914439 + Splice_Site SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:133914439G>A ENST00000361069.4 + 5 1298 c.1165_splice c.e5+1 p.G389_splice LAMC3_ENST00000480883.1_3'UTR NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 389 Laminin EGF-like 3. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CCAGTCGGCAGGTGAGTGGAC 0.627000 7 37 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82455910 82455910 + Missense_Mutation SNP C C A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:82455910C>A ENST00000423517.2 - 18 14747 c.14410G>T c.(14410-14412)Ggg>Tgg p.G4804W PCLO_ENST00000333891.8_Missense_Mutation_p.G4804W|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4666 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.G4804W(2) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTTACCTCCCCAAGGAAGTCG 0.378000 16 60 1.56452e-12 1.59391e-12 1 1 0 NBPF18P 441908 broad.mit.edu 37 1 151993687 151993687 + RNA SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:151993687C>T ENST00000432386.1 + 0 2522 NR_103561.1 CGAGAGCTGGCCTGGTTAAGG 0.478000 11 68 0 0 1 0 0 JUP 3728 broad.mit.edu 37 17 39913974 39913974 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:39913974G>A ENST00000393931.3 - 11 1954 c.1836C>T c.(1834-1836)gcC>gcT p.A612A JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.A612A|JUP_ENST00000310706.5_Silent_p.A612A NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 612 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) CCTTGTCCTGGGCCAGCTCAC 0.677000 6 25 0 0 1 0 0 SDPR 8436 broad.mit.edu 37 2 192700856 192700856 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:192700856C>T ENST00000304141.4 - 2 1400 c.1071G>A c.(1069-1071)gaG>gaA p.E357E NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 357 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) AGGTCGCCTTCTCAGCAGCCT 0.572000 28 130 0 0 1 0 0 OR5T1 390155 broad.mit.edu 37 11 56043304 56043304 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:56043304G>A ENST00000313033.2 + 1 276 c.190G>A c.(190-192)Gat>Aat p.D64N NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) GATCATTGGGGATTTCTGGCT 0.353000 8 49 0 0 1 0 0 ST3GAL1 6482 broad.mit.edu 37 8 134478222 134478222 + Missense_Mutation SNP G G C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:134478222G>C ENST00000319914.5 - 5 1445 c.418C>G c.(418-420)Cgg>Ggg p.R140G ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R140G|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R140G|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R140G Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 1 140 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) GCGCAGCGCCGGCAGCCCACC 0.572000 27 53 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14808037 14808037 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:14808037C>T ENST00000380881.4 - 18 3807 c.2992G>A c.(2992-2994)Gga>Aga p.G998R FREM1_ENST00000422223.2_Missense_Mutation_p.G997R|FREM1_ENST00000380880.3_Missense_Mutation_p.G997R Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 997 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GGATTGGGTCCATTGTAGCAA 0.493000 23 73 0 0 1 0 0 HMSD 284293 broad.mit.edu 37 18 61627444 61627444 + Missense_Mutation SNP A A G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr18:61627444A>G ENST00000408945.3 + 4 477 c.275A>G c.(274-276)gAc>gGc p.D92G HMSD_ENST00000481726.1_3'UTR NM_001123366.1 NP_001116838.1 A8MTL9 HMSD_HUMAN histocompatibility (minor) serpin domain containing 92 extracellular region serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(2)|lung(2)|stomach(1) 6 AAACAGCTAGACTTTGTGAAT 0.333000 5 40 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31187623 31187623 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chrX:31187623G>A ENST00000357033.4 - 74 10696 c.10490C>T c.(10489-10491)tCc>tTc p.S3497F DMD-AS1_ENST00000481143.1_RNA|DMD_ENST00000343523.2_Intron|DMD_ENST00000378723.3_Missense_Mutation_p.S429F|DMD_ENST00000378702.4_Missense_Mutation_p.S429F|DMD_ENST00000378707.3_Missense_Mutation_p.S1037F|DMD_ENST00000378677.2_Missense_Mutation_p.S3493F|DMD_ENST00000541735.1_Intron|DMD_ENST00000378680.2_Intron|DMD_ENST00000359836.1_Missense_Mutation_p.S1024F|DMD_ENST00000474231.1_Missense_Mutation_p.S1037F|DMD_ENST00000361471.4_Missense_Mutation_p.S416F NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 3497 Binds to SNTB1. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ACTCTCTAAGGAAATCAAGAT 0.458000 6 10 0 0 1 0 0 BEND7 222389 broad.mit.edu 37 10 13534639 13534639 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr10:13534639C>T ENST00000341083.3 - 5 949 c.653G>A c.(652-654)gGc>gAc p.G218D BEND7_ENST00000396900.2_Missense_Mutation_p.G270D|BEND7_ENST00000396898.2_Missense_Mutation_p.G283D|BEND7_ENST00000378605.3_Missense_Mutation_p.G231D NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 270 Poly-Lys. protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 CAGAACAATGCCGAATCCTAG 0.483000 29 74 0 0 1 0 0 IRX1 79192 broad.mit.edu 37 5 3600281 3600281 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:3600281C>T ENST00000302006.3 + 2 1271 c.1219C>T c.(1219-1221)Cct>Tct p.P407S CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 407 Poly-Pro. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CCCTCACCTTCCTGCACCTCC 0.692000 17 56 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85400323 85400323 + Missense_Mutation SNP A A G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:85400323A>G ENST00000258888.5 + 6 3127 c.2960A>G c.(2959-2961)aAc>aGc p.N987S NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 987 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCCTCCAGGAACCATGAGCAA 0.547000 18 101 0 0 1 0 0 SYNGR2 9144 broad.mit.edu 37 17 76167991 76167991 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:76167991G>A ENST00000225777.3 + 4 708 c.649G>A c.(649-651)Ggc>Agc p.G217S SYNGR2_ENST00000589711.1_3'UTR|SYNGR2_ENST00000585591.1_Missense_Mutation_p.G217S|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000588282.1_Silent_p.R246R|SYNGR2_ENST00000590201.1_Missense_Mutation_p.G161S O43760 SNG2_HUMAN synaptogyrin 2 217 integral to plasma membrane endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 7 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994) GACCACCGAGGGCTACCAGCC 0.652000 5 86 0 0 1 0 0 KRT80 144501 broad.mit.edu 37 12 52579170 52579170 + Nonsense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:52579170G>A ENST00000313234.5 - 2 599 c.502C>T c.(502-504)Cga>Tga p.R168* KRT80_ENST00000394815.2_Nonsense_Mutation_p.R168* NM_001081492.1 NP_001074961.1 Q6KB66 K2C80_HUMAN keratin 80 168 Coil 1B.|Rod. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) TACCTGATTCGAAACTCCTCA 0.592000 23 59 0 0 1 0 0 FMOD 2331 broad.mit.edu 37 1 203317371 203317371 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:203317371C>T ENST00000354955.4 - 2 491 c.28G>A c.(28-30)Gca>Aca p.A10T FMOD_ENST00000464898.1_5'UTR NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 10 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) AAGAGCCCTGCCAGCAGCAGG 0.572000 13 63 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93982021 93982021 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:93982021C>T ENST00000369303.4 - 6 1628 c.1444G>A c.(1444-1446)Gag>Aag p.E482K NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 482 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CTTACTTTCTCGTAATACTTG 0.418000 36 79 0 0 1 0 0 PMPCB 9512 broad.mit.edu 37 7 102948132 102948132 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:102948132C>T ENST00000249269.4 + 7 864 c.826C>T c.(826-828)Ccc>Tcc p.P276S PMPCB_ENST00000420236.2_Missense_Mutation_p.P171S|PMPCB_ENST00000428154.1_Missense_Mutation_p.P276S NM_004279.2 NP_004270.2 O75439 MPPB_HUMAN peptidase (mitochondrial processing) beta 276 proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AGCTCTGCCTCCCTGCAAATT 0.398000 11 25 0 0 1 0 0 MAP2K2 5605 broad.mit.edu 37 19 4101104 4101104 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:4101104C>T ENST00000262948.5 - 6 871 c.618G>A c.(616-618)ggG>ggA p.G206G MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Silent_p.G109G NM_030662.3 NP_109587.1 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 206 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GCTTGATCTCCCCTCTAGAGT 0.652000 8 7 0 0 1 0 0 KLK9 284366 broad.mit.edu 37 19 51509961 51509961 + Silent SNP A A T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:51509961A>T ENST00000376832.4 - 3 252 c.219T>A c.(217-219)ctT>ctA p.L73L KLK9_ENST00000594211.1_Silent_p.L73L|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000250366.6_Silent_p.L73L NM_012315.1 NP_036447.1 Q9UKQ9 KLK9_HUMAN kallikrein-related peptidase 9 73 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 all_neural(266;0.0652) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) GGTGCTCTCCAAGGCGGACCC 0.592000 6 20 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23233411 23233411 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:23233411C>T ENST00000400191.3 + 11 2115 c.2097C>T c.(2095-2097)acC>acT p.T699T EPHB2_ENST00000374632.3_Silent_p.T700T|EPHB2_ENST00000374630.3_Silent_p.T699T|EPHB2_ENST00000374627.1_Silent_p.T694T NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 699 Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) TGATCATCACCGAGTTCATGG 0.572000 6 24 0 0 1 0 0 ZNF93 81931 broad.mit.edu 37 19 20027423 20027423 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:20027423C>T ENST00000343769.5 + 3 213 c.185C>T c.(184-186)cCt>cTt p.P62L ZNF93_ENST00000591366.1_Missense_Mutation_p.P62L|AC007204.2_ENST00000592245.1_lincRNA|ZNF93_ENST00000592160.1_Missense_Mutation_p.P62L NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 62 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 GGAAAAAAACCTTTGACTATG 0.418000 18 68 0 0 1 0 0 STXBP2 6813 broad.mit.edu 37 19 7712089 7712089 + Missense_Mutation SNP C C G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:7712089C>G ENST00000441779.2 + 17 1564 c.1527C>G c.(1525-1527)ttC>ttG p.F509L STXBP2_ENST00000221283.5_Missense_Mutation_p.F498L|STXBP2_ENST00000414284.2_Missense_Mutation_p.F495L|STXBP2_ENST00000602355.1_Missense_Mutation_p.F33L NM_001272034.1 NP_001258963.1 Q15833 STXB2_HUMAN syntaxin binding protein 2 498 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 23 TGTGGCCCTTCGTATCCGACC 0.736000 12 41 0 0 1 0 0 RAB30 27314 broad.mit.edu 37 11 82698774 82698774 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:82698774C>T ENST00000533486.1 - 5 500 c.216G>A c.(214-216)cgG>cgA p.R72R RAB30_ENST00000532548.1_Silent_p.R72R|RAB30_ENST00000527633.1_Silent_p.R72R|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000525117.1_Silent_p.R44R|RAB30_ENST00000534141.1_Silent_p.R72R|RAB30_ENST00000260056.2_Silent_p.R72R NM_014488.3 NP_055303.2 Q15771 RAB30_HUMAN RAB30, member RAS oncogene family 72 protein transport|small GTPase mediated signal transduction Golgi stack|plasma membrane GTP binding|GTPase activity endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 GGGTAATGGACCGAAATCTCT 0.468000 11 60 0 0 1 0 0 CLGN 1047 broad.mit.edu 37 4 141315153 141315153 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:141315153C>T ENST00000325617.5 - 11 1632 c.1192G>A c.(1192-1194)Gaa>Aaa p.E398K CLGN_ENST00000414773.1_Missense_Mutation_p.E398K|CLGN_ENST00000537281.1_Missense_Mutation_p.E398K NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 398 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) TGATCATCTTCGAAATAATCT 0.328000 9 29 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44578781 44578781 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:44578781G>A ENST00000289547.4 - 2 1270 c.1215C>T c.(1213-1215)ttC>ttT p.F405F NPC1L1_ENST00000423141.1_Silent_p.F405F|NPC1L1_ENST00000381160.3_Silent_p.F405F|NPC1L1_ENST00000546276.1_Silent_p.F405F NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 405 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GGTTGGTTCGGAAGAAGGGGC 0.587000 38 133 0 0 1 0 0 OR6C70 390327 broad.mit.edu 37 12 55863284 55863284 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:55863284G>A ENST00000327335.4 - 1 638 c.639C>T c.(637-639)atC>atT p.I213I RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 AGTAAGAAAGGATTACTAAAA 0.368000 9 88 0 0 1 0 0 C9orf142 286257 broad.mit.edu 37 9 139887630 139887630 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:139887630C>T ENST00000371620.3 + 4 382 c.356C>T c.(355-357)cCc>cTc p.P119L C9orf142_ENST00000493968.1_3'UTR NM_183241.1 NP_899064.1 Q9BUH6 CI142_HUMAN chromosome 9 open reading frame 142 119 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GAGGCAGCCCCCAGGCTGCGG 0.657000 8 52 0 0 1 0 0 PHOX2B 8929 broad.mit.edu 37 4 41748139 41748139 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:41748139C>T ENST00000226382.2 - 3 989 c.630G>A c.(628-630)gcG>gcA p.A210A NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 210 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 cgccTCCATTCGCCCCGCAGC 0.756000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 18 69 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26825589 26825589 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:26825589C>T ENST00000541819.2 - 7 829 c.727G>A c.(727-729)Gat>Aat p.D243N GABRB3_ENST00000545868.1_Missense_Mutation_p.D102N|GABRB3_ENST00000311550.5_Missense_Mutation_p.D187N|GABRB3_ENST00000299267.4_Missense_Mutation_p.D187N|GABRB3_ENST00000400188.3_Missense_Mutation_p.D116N P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 187 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TCAATGTCATCCGTGGTGTAG 0.502000 10 79 0 0 1 0 0 POLD1 5424 broad.mit.edu 37 19 50905350 50905350 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:50905350C>T ENST00000440232.2 + 5 611 c.558C>T c.(556-558)gcC>gcT p.A186A POLD1_ENST00000595904.1_Silent_p.A186A|POLD1_ENST00000599857.1_Silent_p.A186A NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 186 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) CTGGGCCGGCCGTGCTGGCTG 0.672000 DNA polymerases (catalytic subunits) 8 56 0 0 1 0 0 AE000661.37 0 broad.mit.edu 37 14 22938294 22938294 + RNA SNP T T G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:22938294T>G ENST00000514473.2 - 0 225 AE000661.37_ENST00000556777.1_RNA|TRDV3_ENST00000535880.2_RNA CACCGTCTGGTCCGGGGAACT 0.498000 7 17 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184761 130184761 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:130184761C>T ENST00000422113.2 - 2 888 c.562G>A c.(562-564)Gac>Aac p.D188N NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 188 integral to membrane p.D188H(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) AGCCCCAGGTCCCCCTGCAGC 0.706000 5 27 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9049206 9049206 + Nonsense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:9049206G>A ENST00000397910.4 - 5 32628 c.32425C>T c.(32425-32427)Cga>Tga p.R10809* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10811 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTCAGAGCTCGATTAGTTGTA 0.498000 31 100 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87725701 87725701 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:87725701G>A ENST00000305344.4 + 2 1352 c.649G>A c.(649-651)Gga>Aga p.G217R HTR1E_ENST00000369584.1_Missense_Mutation_p.G217R NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 217 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CCAGAAAAGGGGATCAAGTCG 0.448000 25 65 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92087088 92087088 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:92087088G>A ENST00000298047.6 + 1 1827 c.1810G>A c.(1810-1812)Gat>Aat p.D604N FAT3_ENST00000409404.2_Missense_Mutation_p.D604N|FAT3_ENST00000525166.1_Missense_Mutation_p.D454N|FAT3_ENST00000541502.1_Missense_Mutation_p.D604N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 604 Cadherin 6. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.D604N(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTCAGCGATCGATATCGATGA 0.388000 TCGA Ovarian(4;0.039) 7 21 0 0 1 0 0 CLUAP1 23059 broad.mit.edu 37 16 3562479 3562479 + Splice_Site SNP G G T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:3562479G>T ENST00000571025.1 + 5 545 c.e5+1 CLUAP1_ENST00000576634.1_Splice_Site|CLUAP1_ENST00000572600.1_Intron|LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000417763.2_Splice_Site|CLUAP1_ENST00000341633.5_Splice_Site Q96AJ1 CLUA1_HUMAN clusterin associated protein 1 nucleus protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2) 16 AGAGTTGAGGGTAAGCATTCC 0.423000 8 35 0.0381472 0.0383154 1 1 0 IGHV3-66 28412 broad.mit.edu 37 14 107131445 107131445 + RNA SNP T T A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:107131445T>A ENST00000390632.2 - 0 115 CCTTTTAAAATAGCAACAAGG 0.463000 5 90 0 0 1 0 0 SCAP 22937 broad.mit.edu 37 3 47462122 47462122 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:47462122G>A ENST00000265565.5 - 12 1897 c.1485C>T c.(1483-1485)ttC>ttT p.F495F SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000441517.2_Silent_p.F240F|SCAP_ENST00000545718.1_Silent_p.F103F NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 495 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) GCAGGTTTCGGAAGGAAGACG 0.662000 OREG0015548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 47 0 0 1 0 0 RXFP3 51289 broad.mit.edu 37 5 33938002 33938002 + Missense_Mutation SNP C C A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:33938002C>A ENST00000330120.3 + 1 1512 c.1157C>A c.(1156-1158)cCc>cAc p.P386H NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 386 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 TGCCTCAACCCCGTCCTCTAC 0.622000 17 101 1.00905e-13 1.02984e-13 1 1 0 SPEG 10290 broad.mit.edu 37 2 220337674 220337674 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:220337674C>T ENST00000312358.7 + 16 4135 c.4003C>T c.(4003-4005)Ctg>Ttg p.L1335L SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1335 Fibronectin type-III 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GTGGACGGCACTGGTCACAGG 0.657000 19 50 0 0 1 0 0 CDC7 8317 broad.mit.edu 37 1 91989597 91989597 + Splice_Site SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:91989597G>A ENST00000428239.1 + 12 1589 c.e12-1 CDC7_ENST00000430031.2_Splice_Site|CDC7_ENST00000234626.6_Splice_Site NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) TTTGCTTTTAGGGAAATCAAT 0.333000 14 30 0 0 1 0 0 ODF2L 57489 broad.mit.edu 37 1 86850382 86850382 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:86850382G>A ENST00000359242.3 - 4 630 c.349C>T c.(349-351)Ctt>Ttt p.L117F ODF2L_ENST00000394731.1_5'UTR|ODF2L_ENST00000370566.3_Missense_Mutation_p.L117F|ODF2L_ENST00000317336.7_Missense_Mutation_p.L117F|ODF2L_ENST00000294678.2_Missense_Mutation_p.L117F|ODF2L_ENST00000370567.1_Missense_Mutation_p.L117F NM_001007022.2 NP_001007023.2 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like 117 centrosome endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 24 all cancers(265;0.0313)|Epithelial(280;0.0611) CTCTTTCTAAGAAGATGTTCT 0.289000 4 27 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56088580 56088580 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:56088580G>A ENST00000257880.7 - 16 2529 c.2310C>T c.(2308-2310)gtC>gtT p.V770V ITGA7_ENST00000257879.6_Silent_p.V726V|ITGA7_ENST00000553804.1_Silent_p.V730V|ITGA7_ENST00000452168.2_Silent_p.V633V|ITGA7_ENST00000394229.2_Silent_p.V726V|ITGA7_ENST00000394230.2_Silent_p.V730V|ITGA7_ENST00000347027.6_Silent_p.V720V|ITGA7_ENST00000555728.1_Silent_p.V770V Q13683 ITA7_HUMAN integrin, alpha 7 770 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CCAGGGCCCGGACCCCTGAGT 0.642000 9 58 0 0 1 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123484287 123484287 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:123484287C>T ENST00000529750.1 + 15 2046 c.1719C>T c.(1717-1719)gtC>gtT p.V573V GRAMD1B_ENST00000322282.7_Silent_p.V573V|GRAMD1B_ENST00000456860.2_Silent_p.V580V|GRAMD1B_ENST00000450171.2_Silent_p.V264V NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 573 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) ACCTGCGAGTCCCTCACCTGG 0.587000 5 27 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144943078 144943078 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:144943078C>T ENST00000525985.1 - 2 4415 c.4344G>A c.(4342-4344)gtG>gtA p.V1448V P58107 EPIPL_HUMAN epiplakin 1 1448 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCCTCAGAGCCACCGCGGTGT 0.617000 19 30 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936029 4936029 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:4936029G>A ENST00000322013.3 - 1 893 c.865C>T c.(865-867)Cct>Tct p.P289S MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCACAGGAGGAAAGAGAAGA 0.493000 7 41 0 0 1 0 0 TOP2B 7155 broad.mit.edu 37 3 25656761 25656761 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:25656761G>A ENST00000435706.2 - 27 3712 c.3511C>T c.(3511-3513)Ctt>Ttt p.L1171F TOP2B_ENST00000540199.1_Missense_Mutation_p.L28F|TOP2B_ENST00000542520.1_Missense_Mutation_p.L28F|TOP2B_ENST00000475717.1_5'UTR|TOP2B_ENST00000264331.4_Missense_Mutation_p.L1176F Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 1176 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 TTTCTTTTAAGATCATTGACC 0.284000 14 37 0 0 1 0 0 MTX2 10651 broad.mit.edu 37 2 177162612 177162612 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:177162612C>T ENST00000392529.2 + 4 499 c.94C>T c.(94-96)Ctt>Ttt p.L32F MTX2_ENST00000249442.6_Missense_Mutation_p.L42F|MTX2_ENST00000443241.1_Intron O75431 MTX2_HUMAN metaxin 2 42 protein targeting to mitochondrion mitochondrial outer membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181) TGCAGCTTCTCTTGCAGTGCA 0.318000 3 18 0 0 1 0 0 APBB1 322 broad.mit.edu 37 11 6432225 6432225 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:6432225G>A ENST00000389906.2 - 2 452 c.353C>T c.(352-354)tCt>tTt p.S118F APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Missense_Mutation_p.S118F|APBB1_ENST00000299402.6_Missense_Mutation_p.S118F NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 118 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CTCCAGCTCAGAGTACAGGTG 0.607000 67 236 0 0 1 0 0 EMR2 30817 broad.mit.edu 37 19 14877186 14877186 + Silent SNP A A G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:14877186A>G ENST00000315576.3 - 7 946 c.495T>C c.(493-495)aaT>aaC p.N165N EMR2_ENST00000594294.1_Intron|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000601345.1_Silent_p.N165N|EMR2_ENST00000392965.3_Silent_p.N165N|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000596991.2_Silent_p.N165N|EMR2_ENST00000392967.2_Silent_p.N165N|EMR2_ENST00000346057.1_Intron NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 165 EGF-like 4; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 AGGTGCATTCATTCACATCTG 0.597000 26 69 0 0 1 0 0 FOXF2 2295 broad.mit.edu 37 6 1394941 1394941 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:1394941C>T ENST00000259806.1 + 2 1296 c.1182C>T c.(1180-1182)ccC>ccT p.P394P NM_001452.1 NP_001443.1 Q12947 FOXF2_HUMAN forkhead box F2 394 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding large_intestine(2)|lung(5)|prostate(1) 8 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) TGGGACTGCCCCGTTACCAGC 0.443000 45 78 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12656535 12656535 + Nonsense_Mutation SNP A A T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:12656535A>T ENST00000425538.1 + 10 2130 c.1930A>T c.(1930-1932)Aaa>Taa p.K644* MYOCD_ENST00000343344.4_Nonsense_Mutation_p.K644*|MYOCD_ENST00000395988.1_Nonsense_Mutation_p.K548* NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 644 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GGGGGCTGTGAAAAGCCCACA 0.562000 30 89 0 0 1 0 0 RBP2 5948 broad.mit.edu 37 3 139180953 139180953 + Splice_Site SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:139180953C>T ENST00000232217.2 - 2 309 c.e2+1 RP11-319G6.1_ENST00000515247.1_RNA NM_004164.2 NP_004155.2 P50120 RET2_HUMAN retinol binding protein 2, cellular epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Vitamin A(DB00162) CCGGTCAGTACCTTAACATGC 0.428000 18 55 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47219444 47219444 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:47219444G>A ENST00000300404.2 + 3 502 c.443G>A c.(442-444)gGa>gAa p.G148E B4GALNT2_ENST00000504681.1_Missense_Mutation_p.G62E|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.G88E NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 148 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) AAAGAGCAGGGAGGTTACAAC 0.512000 13 80 0 0 1 0 0 ZNF618 114991 broad.mit.edu 37 9 116812196 116812196 + Missense_Mutation SNP A A G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:116812196A>G ENST00000288466.7 + 14 2434 c.2335A>G c.(2335-2337)Aat>Gat p.N779D ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.N872D NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 872 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 GCTAGGCAAAAATGAAGTGTA 0.587000 13 88 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82815972 82815972 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:82815972G>A ENST00000265077.3 + 7 2412 c.1847G>A c.(1846-1848)gGa>gAa p.G616E VCAN_ENST00000342785.4_Missense_Mutation_p.G616E|VCAN_ENST00000512590.2_Missense_Mutation_p.G568E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 616 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GATAATAATGGATCATCCATG 0.413000 26 92 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558774 140558774 + Nonsense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:140558774C>T ENST00000239444.2 + 1 1404 c.1159C>T c.(1159-1161)Cag>Tag p.Q387* NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 387 Cadherin 4. 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) TTGCTCCATTCAGGAGGATCT 0.458000 18 63 0 0 1 0 0 PEX1 5189 broad.mit.edu 37 7 92151512 92151512 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:92151512G>A ENST00000248633.4 - 2 272 c.177C>T c.(175-177)agC>agT p.S59S PEX1_ENST00000438045.1_Silent_p.S59S|PEX1_ENST00000428214.1_Silent_p.S59S NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 59 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CTTCCACCCAGCTCAAGAATG 0.403000 27 63 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70332216 70332216 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:70332216G>A ENST00000338508.4 - 32 4184 c.4185C>T c.(4183-4185)ccC>ccT p.P1395P SHANK2_ENST00000423696.2_Silent_p.P1015P|SHANK2_ENST00000449833.2_Silent_p.P799P|SHANK2_ENST00000409161.1_Silent_p.P798P Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1015 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) ATGCCAGAGGGGGAGGAGGGA 0.577000 13 70 0 0 1 0 0 RFPL4B 442247 broad.mit.edu 37 6 112671701 112671701 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:112671701G>A ENST00000441065.2 + 3 1103 c.791G>A c.(790-792)tGa>tAa p.*264* NM_001013734.2 NP_001013756.2 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 0 zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 14 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) ATCTGCCCATGAGAAAGTCAG 0.463000 13 20 0 0 1 0 0 MAP2K2 5605 broad.mit.edu 37 19 4101103 4101103 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:4101103C>T ENST00000262948.5 - 6 872 c.619G>A c.(619-621)Gag>Aag p.E207K MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Missense_Mutation_p.E110K NM_030662.3 NP_109587.1 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 207 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E207K(1) Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTTGATCTCCCCTCTAGAG 0.652000 8 7 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48244997 48244997 + Silent SNP G G A rs139456533 TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:48244997G>A ENST00000394747.1 - 10 1819 c.1470C>T c.(1468-1470)atC>atT p.I490I ABCC11_ENST00000394748.1_Silent_p.I490I|ABCC11_ENST00000537808.1_Silent_p.I490I|ABCC11_ENST00000353782.5_Silent_p.I490I|ABCC11_ENST00000356608.2_Silent_p.I490I NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 490 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CCCCATTGACGATCCCGGGAC 0.577000 31 55 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189868179 189868179 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:189868179C>T ENST00000304636.3 + 37 2766 c.2596C>T c.(2596-2598)Cct>Tct p.P866S COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 866 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) ACGTGGCAGTCCTGGTGGACC 0.373000 9 20 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78346416 78346416 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:78346416G>A ENST00000409931.3 - 2 545 c.474C>T c.(472-474)ccC>ccT p.P158P TBC1D2B_ENST00000300584.3_Silent_p.P158P Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 158 intracellular protein binding|Rab GTPase activator activity breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GAAAATCCCCGGGAGTTGGAG 0.468000 43 94 0 0 1 0 0 C12orf36 283422 broad.mit.edu 37 12 13526307 13526307 + Nonsense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:13526307C>T ENST00000318426.2 - 3 465 c.248G>A c.(247-249)tGg>tAg p.W83* C12orf36_ENST00000527705.2_Nonsense_Mutation_p.W83* chromosome 12 open reading frame 36 lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) TCGTGCAATCCAGCAGAATGT 0.473000 14 69 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3306401 3306401 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:3306401C>T ENST00000219596.1 - 1 226 c.187G>A c.(187-189)Gaa>Aaa p.E63K MEFV_ENST00000339854.4_Missense_Mutation_p.E63K|MEFV_ENST00000541159.1_Missense_Mutation_p.E63K|MEFV_ENST00000536379.1_Missense_Mutation_p.E63K NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 63 DAPIN. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) GCGTACTCTTCCCCATAGTAG 0.642000 14 71 0 0 1 0 0 PRPF40B 25766 broad.mit.edu 37 12 50037750 50037750 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:50037750C>T ENST00000261897.1 + 24 2998 c.2447C>T c.(2446-2448)cCt>cTt p.P816L PRPF40B_ENST00000380281.1_Missense_Mutation_p.P829L|PRPF40B_ENST00000548825.2_Missense_Mutation_p.P850L|FMNL3_ENST00000335154.5_3'UTR Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 829 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 GCAGAGCTCCCTAACCGTTCC 0.577000 12 80 0 0 1 0 0 RASAL3 64926 broad.mit.edu 37 19 15572085 15572085 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:15572085C>T ENST00000343625.6 - 4 568 c.488G>A c.(487-489)gGa>gAa p.G163E NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 163 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 GCTAGCACTTCCCACCCGGGG 0.647000 7 31 0 0 1 0 0 CYBB 1536 broad.mit.edu 37 X 37665729 37665729 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chrX:37665729G>A ENST00000378588.4 + 11 1471 c.1404G>A c.(1402-1404)agG>agA p.R468R CYBB_ENST00000545017.1_Silent_p.R436R|CYBB_ENST00000536160.1_Silent_p.R201R|TM4SF2_ENST00000465127.1_Intron NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 468 electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 TGCAGGAAAGGAACAATGCCG 0.522000 7 14 0 0 1 0 0 CHML 1122 broad.mit.edu 37 1 241797606 241797606 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:241797606G>A ENST00000366553.1 - 1 1626 c.1463C>T c.(1462-1464)gCt>gTt p.A488V OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 488 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) GACCCGTACAGCACAAGCTCC 0.423000 15 52 0 0 1 0 0 PPP6R1 22870 broad.mit.edu 37 19 55741984 55741984 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:55741984G>A ENST00000412770.2 - 23 3205 c.2639C>T c.(2638-2640)tCc>tTc p.S880F PPP6R1_ENST00000587283.1_Missense_Mutation_p.S880F NM_014931.3 NP_055746.3 Q9UPN7 PP6R1_HUMAN protein phosphatase 6, regulatory subunit 1 880 regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding breast(1) 1 CACTCACTGGGAGCCTGGGGA 0.657000 3 24 0 0 1 0 0 OR8K5 219453 broad.mit.edu 37 11 55927401 55927401 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:55927401G>A ENST00000313447.1 - 1 392 c.393C>T c.(391-393)ctC>ctT p.L131L NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) TAACATAATAGAGCAGAGGGT 0.413000 23 71 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3306400 3306400 + Missense_Mutation SNP T T A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:3306400T>A ENST00000219596.1 - 1 227 c.188A>T c.(187-189)gAa>gTa p.E63V MEFV_ENST00000339854.4_Missense_Mutation_p.E63V|MEFV_ENST00000541159.1_Missense_Mutation_p.E63V|MEFV_ENST00000536379.1_Missense_Mutation_p.E63V NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 63 DAPIN. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) GGCGTACTCTTCCCCATAGTA 0.642000 15 68 0 0 1 0 0 PHACTR2 9749 broad.mit.edu 37 6 144086793 144086793 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:144086793C>T ENST00000427704.2 + 6 1187 c.1057C>T c.(1057-1059)Cca>Tca p.P353S PHACTR2_ENST00000305766.6_Missense_Mutation_p.P273S|PHACTR2_ENST00000367582.3_Missense_Mutation_p.P284S|PHACTR2_ENST00000367584.4_Missense_Mutation_p.P341S|PHACTR2_ENST00000440869.2_Missense_Mutation_p.P364S NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 353 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) CTCAGACACTCCAGTTGTCCT 0.577000 17 40 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18058687 18058687 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:18058687G>A ENST00000585180.1 + 4 360 c.187G>A c.(187-189)Gag>Aag p.E63K MYO15A_ENST00000418233.3_Silent_p.L64L|MYO15A_ENST00000205890.5_Silent_p.L2800L Q9UKN7 MYO15_HUMAN myosin XVA 733 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TCAAACTCCTGAGGATGGTCA 0.647000 44 84 0 0 1 0 0 KIAA1009 22832 broad.mit.edu 37 6 84862691 84862691 + Missense_Mutation SNP C C A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:84862691C>A ENST00000403245.3 - 23 3316 c.3202G>T c.(3202-3204)Gat>Tat p.D1068Y KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.D992Y NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 1068 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) AAATCTTCATCATCTTTATCA 0.368000 10 17 1.61879e-10 1.64625e-10 1 1 0 PNMA5 114824 broad.mit.edu 37 X 152159652 152159652 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chrX:152159652C>T ENST00000439251.1 - 2 929 c.491G>A c.(490-492)gGa>gAa p.G164E PNMA5_ENST00000535214.1_Missense_Mutation_p.G164E|PNMA5_ENST00000361887.5_Missense_Mutation_p.G164E|PNMA5_ENST00000452693.1_Missense_Mutation_p.G164E NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 164 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) GGAAGCAGTTCCCGAAAACAC 0.522000 43 43 0 0 1 0 0 DCST2 127579 broad.mit.edu 37 1 155003670 155003670 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:155003670G>A ENST00000368424.3 - 5 838 c.780C>T c.(778-780)ccC>ccT p.P260P DCST2_ENST00000295536.5_Silent_p.P260P NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 260 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGCGCAAGAAGGGTTGAATGT 0.642000 7 35 0 0 1 0 0 PARN 5073 broad.mit.edu 37 16 14645905 14645905 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:14645905G>A ENST00000437198.2 - 21 1594 c.1453C>T c.(1453-1455)Ctt>Ttt p.L485F PARN_ENST00000420015.2_Missense_Mutation_p.L439F|PARN_ENST00000539279.1_Missense_Mutation_p.L310F|PARN_ENST00000341484.7_Missense_Mutation_p.L424F NM_001134477.2|NM_002582.3 NP_001127949.1|NP_002573.1 O95453 PARN_HUMAN poly(A)-specific ribonuclease 485 female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1) 21 GGCTGGCTAAGGGAAACAAAT 0.398000 21 142 0 0 1 0 0 EEPD1 80820 broad.mit.edu 37 7 36278627 36278627 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:36278627C>T ENST00000242108.4 + 3 1630 c.912C>T c.(910-912)gaC>gaT p.D304D EEPD1_ENST00000534978.1_Silent_p.D304D NM_030636.2 NP_085139.2 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family domain containing 1 304 DNA repair DNA binding endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18 AACTGCTTGACAGAGAGGCCT 0.393000 10 42 0 0 1 0 0 MMAB 326625 broad.mit.edu 37 12 110009485 110009485 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:110009485G>A ENST00000545712.2 - 2 558 c.165C>T c.(163-165)atC>atT p.I55I MMAB_ENST00000266839.5_5'UTR|MMAB_ENST00000540016.1_Intron NM_052845.3 NP_443077.1 Q96EY8 MMAB_HUMAN methylmalonic aciduria (cobalamin deficiency) cblB type 55 cobalamin biosynthetic process mitochondrion ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAATCTTGGGGATCCTGGGTG 0.463000 4 34 0 0 1 0 0 CEP44 80817 broad.mit.edu 37 4 175225444 175225444 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:175225444C>T ENST00000503780.1 + 6 845 c.431C>T c.(430-432)cCt>cTt p.P144L CEP44_ENST00000296519.4_Missense_Mutation_p.P144L|CEP44_ENST00000426172.1_Missense_Mutation_p.P144L|CEP44_ENST00000457424.2_Missense_Mutation_p.P144L NM_001040157.2 NP_001035247.1 Q9C0F1 CEP44_HUMAN centrosomal protein 44kDa 144 centrosome|midbody|spindle pole endometrium(2)|large_intestine(4)|lung(5)|stomach(1) 12 AAGTCAGAACCTCCTTTGGGC 0.353000 10 42 0 0 1 0 0 KLK8 11202 broad.mit.edu 37 19 51503831 51503831 + Missense_Mutation SNP T T C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:51503831T>C ENST00000600767.1 - 4 568 c.79A>G c.(79-81)Agg>Ggg p.R27G CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000376832.4_3'UTR|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000391806.2_Missense_Mutation_p.R72G|KLK9_ENST00000250366.6_3'UTR|KLK8_ENST00000291726.7_Missense_Mutation_p.R27G|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000320838.5_Intron O60259 KLK8_HUMAN kallikrein-related peptidase 8 27 cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) TCCTGTGCCCTGGAGTGTCCT 0.642000 14 61 0 0 1 0 0 SMARCE1 6605 broad.mit.edu 37 17 38792678 38792678 + Missense_Mutation SNP T T C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:38792678T>C ENST00000348513.6 - 6 1118 c.338A>G c.(337-339)cAa>cGa p.Q113R SMARCE1_ENST00000544009.1_Missense_Mutation_p.Q43R|SMARCE1_ENST00000580419.1_Missense_Mutation_p.Q78R|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000400122.3_Missense_Mutation_p.Q43R|SMARCE1_ENST00000578044.1_Missense_Mutation_p.Q43R|SMARCE1_ENST00000377808.4_Missense_Mutation_p.Q78R|SMARCE1_ENST00000431889.2_Missense_Mutation_p.Q95R NM_003079.4 NP_003070.3 Q969G3 SMCE1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 113 chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity large_intestine(1) 1 Breast(137;0.000812) TAAATATTCTTGTTTTTCTTC 0.403000 39 106 0 0 1 0 0 ERCC4 2072 broad.mit.edu 37 16 14042043 14042043 + Missense_Mutation SNP C C A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:14042043C>A ENST00000311895.7 + 11 2599 c.2590C>A c.(2590-2592)Cgc>Agc p.R864S NM_005236.2 NP_005227.1 Q92889 XPF_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 4 864 Interaction with EME1 and ERCC1. double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 CAAAAACTGCCGCTCCTTGAT 0.478000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 14 33 1.3612e-06 1.3806e-06 1 1 0 ANKRD24 170961 broad.mit.edu 37 19 4216990 4216990 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:4216990C>T ENST00000600132.1 + 18 2109 c.1833C>T c.(1831-1833)acC>acT p.T611T ANKRD24_ENST00000262970.5_Silent_p.T701T|ANKRD24_ENST00000318934.4_Silent_p.T611T NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 611 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) AAATGGAGACCACAGAAGAAG 0.582000 17 16 0 0 1 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51646001 51646001 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:51646001G>A ENST00000317643.6 + 1 444 c.375G>A c.(373-375)atG>atA p.M125I SIGLEC7_ENST00000600577.1_Missense_Mutation_p.M125I|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.M125I NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 125 cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) TCTTTCGTATGGAGAAAGGAA 0.478000 25 60 0 0 1 0 0 DTL 51514 broad.mit.edu 37 1 212241644 212241644 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:212241644C>T ENST00000366991.4 + 9 1106 c.792C>T c.(790-792)taC>taT p.Y264Y DTL_ENST00000542077.1_Silent_p.Y222Y|DTL_ENST00000475419.1_Intron NM_016448.2 NP_057532.2 Q9NZJ0 DTL_HUMAN denticleless E3 ubiquitin protein ligase homolog (Drosophila) 264 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) CTTTCCTGTACCCAGGTAGCA 0.348000 15 55 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021425 132021425 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:132021425G>A ENST00000356920.5 + 15 2491 c.2397G>A c.(2395-2397)gaG>gaA p.E799E PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 799 Actin-like. ATP binding TGGCTCCCGAGGAGCACCCCA 0.582000 27 184 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2405425 2405425 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:2405425G>A ENST00000332578.3 + 6 622 c.622G>A c.(622-624)Gaa>Aaa p.E208K NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 208 Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCGGCATGGAAGCATCCCC 0.637000 20 71 0 0 1 0 0 TECPR1 25851 broad.mit.edu 37 7 97862208 97862208 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:97862208G>A ENST00000447648.2 - 12 2048 c.1749C>T c.(1747-1749)ttC>ttT p.F583F TECPR1_ENST00000542604.1_Silent_p.F513F|TECPR1_ENST00000379795.3_Silent_p.F584F Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 583 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TGAGCTGCTGGAAGATCTGCT 0.632000 23 30 0 0 1 0 0 CBS 875 broad.mit.edu 37 21 44478306 44478306 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr21:44478306C>T ENST00000398165.3 - 15 1675 c.1416G>A c.(1414-1416)aaG>aaA p.K472K CBS_ENST00000398158.1_Silent_p.K472K|CBS_ENST00000359624.3_Silent_p.K472K|CBS_ENST00000544202.1_Silent_p.K384K|CBS_ENST00000352178.5_Silent_p.K472K|CBS_ENST00000398168.1_Silent_p.K472K NM_000071.2 NP_000062.1 P35520 CBS_HUMAN cystathionine-beta-synthase 472 CBS. cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8) 17 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) ACGGCTGCACCTTCCCGGCAA 0.577000 9 41 0 0 1 0 0 RNASE10 338879 broad.mit.edu 37 14 20979121 20979121 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:20979121G>A ENST00000430083.1 + 2 979 c.575G>A c.(574-576)gGa>gAa p.G192E RNASE10_ENST00000328444.5_Missense_Mutation_p.G164E Q5GAN6 RNS10_HUMAN ribonuclease, RNase A family, 10 (non-active) 164 extracellular region nucleic acid binding|pancreatic ribonuclease activity p.G164E(1) endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1) 12 all_cancers(95;0.00123) Epithelial(56;1.81e-07)|all cancers(55;1.86e-06) GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191) CTCAAGGGGGGAAAATGTCAC 0.458000 13 41 0 0 1 0 0 IGHV1-2 28474 broad.mit.edu 37 14 106452921 106452921 + RNA SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:106452921C>T ENST00000390594.2 - 0 164 CACTGAGGCCCCAGGCTTCTT 0.587000 24 33 0 0 1 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50425041 50425041 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:50425041C>T ENST00000435965.1 - 5 641 c.468G>A c.(466-468)gaG>gaA p.E156E CACNA2D2_ENST00000360963.3_Silent_p.E87E|CACNA2D2_ENST00000395083.1_Silent_p.E156E|CACNA2D2_ENST00000266039.3_Silent_p.E156E|CACNA2D2_ENST00000423994.2_Silent_p.E156E|CACNA2D2_ENST00000429770.1_Silent_p.E156E|CACNA2D2_ENST00000479441.1_Silent_p.E156E|CACNA2D2_ENST00000424201.2_Silent_p.E156E Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 156 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) CGATGTCTTCCTCCTGGTGAG 0.607000 12 25 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7752246 7752246 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:7752246G>A ENST00000254846.5 + 11 3029 c.2640G>A c.(2638-2640)cgG>cgA p.R880R KDM6B_ENST00000448097.2_Silent_p.R880R NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 880 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CCTGGGCCCGGGAGCGCAGGG 0.721000 9 24 0 0 1 0 0 SATB1 6304 broad.mit.edu 37 3 18393642 18393642 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:18393642C>T ENST00000338745.6 - 10 3355 c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.E541K|SATB1_ENST00000454909.2_Missense_Mutation_p.E541K NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 541 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 GTTCTGTTTTCTGGAGAAGGA 0.502000 11 51 0 0 1 0 0 LMOD1 25802 broad.mit.edu 37 1 201915405 201915405 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:201915405C>T ENST00000367288.4 - 1 310 c.64G>A c.(64-66)Gag>Aag p.E22K NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 22 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GACAGGGTCTCCAGCAGGCTG 0.607000 11 15 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25669513 25669513 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:25669513C>T ENST00000382051.3 + 6 585 c.535C>T c.(535-537)Cgg>Tgg p.R179W SLC34A2_ENST00000503434.1_Missense_Mutation_p.R178W|SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Missense_Mutation_p.R178W 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 2 179 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) GCTCACTGTTCGGGCTGCCAT 0.493000 T ROS1 NSCLC 7 33 0 0 1 0 0 BAP1 8314 broad.mit.edu 37 3 52442570 52442570 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:52442570G>A ENST00000460680.1 - 4 646 c.175C>T c.(175-177)Cgg>Tgg p.R59W BAP1_ENST00000296288.5_Missense_Mutation_p.R59W NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 59 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.S58fs*8(1) NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) ACCTTTCGCCGGGACCGGCGC 0.502000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 5 11 0 0 1 0 0 HS1BP3 64342 broad.mit.edu 37 2 20818980 20818980 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:20818980G>A ENST00000304031.3 - 7 971 c.946C>T c.(946-948)Ctg>Ttg p.L316L NM_022460.3 NP_071905.3 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 316 cell communication phosphatidylinositol binding endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCAGGTTCAGAATCTGGTCC 0.572000 7 34 0 0 1 0 0 SKOR1 390598 broad.mit.edu 37 15 68119347 68119347 + Missense_Mutation SNP C C A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:68119347C>A ENST00000380035.2 + 2 1239 c.1181C>A c.(1180-1182)cCc>cAc p.P394H SKOR1_ENST00000554240.1_Missense_Mutation_p.P355H|SKOR1_ENST00000389002.1_Missense_Mutation_p.P350H|SKOR1_ENST00000554054.1_Missense_Mutation_p.P366H|SKOR1_ENST00000341418.5_Missense_Mutation_p.P501H P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 394 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 CCACTTTTCCCCCATCCTTAC 0.667000 11 29 0.0135373 0.013609 1 1 0 ETV7 51513 broad.mit.edu 37 6 36353427 36353427 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:36353427G>A ENST00000373738.1 - 2 871 c.26C>T c.(25-27)tCt>tTt p.S9F ETV7_ENST00000538992.1_Intron|ETV7_ENST00000340181.4_Missense_Mutation_p.S9F|ETV7_ENST00000339796.5_Missense_Mutation_p.S9F|ETV7_ENST00000373737.4_Missense_Mutation_p.S9F NM_001207036.1 NP_001193965.1 Q9Y603 ETV7_HUMAN ets variant 7 9 organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 GCTTATAGGAGAAATAGCCAA 0.483000 9 51 0 0 1 0 0 ZNF585A 199704 broad.mit.edu 37 19 37644471 37644471 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:37644471G>A ENST00000356958.4 - 5 588 c.330C>T c.(328-330)atC>atT p.I110I ZNF585A_ENST00000355533.2_Silent_p.I55I|ZNF585A_ENST00000292841.5_Silent_p.I55I|ZNF585A_ENST00000392157.2_Silent_p.I55I|ZNF585A_ENST00000588723.1_Intron Q6P3V2 Z585A_HUMAN zinc finger protein 585A 110 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TATAACTGAGGATTTTTCTAC 0.343000 29 97 0 0 1 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65198503 65198503 + Missense_Mutation SNP C C G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:65198503C>G ENST00000247226.7 + 7 1244 c.936C>G c.(934-936)agC>agG p.S312R PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S368R NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 368 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) ACAAGCACAGCAAGCAGCAGT 0.597000 10 42 0 0 1 0 0 COMP 1311 broad.mit.edu 37 19 18900092 18900092 + Silent SNP G G C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:18900092G>C ENST00000542601.2 - 4 695 c.306C>G c.(304-306)ccC>ccG p.P102P COMP_ENST00000222271.2_Silent_p.P135P|COMP_ENST00000425807.1_Intron P49747 COMP_HUMAN cartilage oligomeric matrix protein 135 EGF-like 1. anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GGGGGAAGCAGGGGTGGGCGT 0.706000 4 8 0 0 1 0 0 FBXO21 23014 broad.mit.edu 37 12 117595803 117595803 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:117595803C>T ENST00000427718.2 - 10 1466 c.1392G>A c.(1390-1392)ctG>ctA p.L464L FBXO21_ENST00000330622.5_Silent_p.L471L NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 471 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) TGTGCTGCACCAGGTAGCCCA 0.532000 58 220 0 0 1 0 0 PPFIA1 8500 broad.mit.edu 37 11 70178156 70178156 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:70178156G>A ENST00000253925.7 + 9 1383 c.1168G>A c.(1168-1170)Gag>Aag p.E390K PPFIA1_ENST00000389547.3_Missense_Mutation_p.E390K|AP000487.6_ENST00000528607.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 390 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) GACGCTCCCGGAGGTGGAGGC 0.562000 33 121 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102898250 102898250 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:102898250C>T ENST00000359520.7 + 8 1428 c.1202C>T c.(1201-1203)tCc>tTc p.S401F TECPR2_ENST00000558678.1_Missense_Mutation_p.S401F NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 401 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 ATGGCCAGCTCCGTGGCCAGC 0.667000 14 27 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754449 49754449 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:49754449C>T ENST00000304801.3 - 1 604 c.452G>A c.(451-453)cGa>cAa p.R151Q NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 151 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) AAGTGATGCTCGGAAGGCTTC 0.498000 18 59 0 0 1 0 0 RFFL 117584 broad.mit.edu 37 17 33348757 33348757 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:33348757G>A ENST00000315249.7 - 3 446 c.224C>T c.(223-225)tCg>tTg p.S75L RFFL_ENST00000413582.2_Missense_Mutation_p.S75L|RFFL_ENST00000394597.2_Missense_Mutation_p.S75L|RFFL_ENST00000378516.2_Missense_Mutation_p.S75L|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000584655.1_Missense_Mutation_p.S75L|RFFL_ENST00000447669.2_Missense_Mutation_p.S75L|RFFL_ENST00000415395.2_Missense_Mutation_p.S75L|RFFL_ENST00000268850.7_Missense_Mutation_p.S75L Q8WZ73 RFFL_HUMAN ring finger and FYVE-like domain containing E3 ubiquitin protein ligase 75 apoptosis membrane ligase activity|zinc ion binding kidney(1)|large_intestine(2)|lung(3) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) TACTTGGCTCGAACAGGTCAT 0.498000 10 55 0 0 1 0 0 GABPA 2551 broad.mit.edu 37 21 27130471 27130471 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr21:27130471C>T ENST00000354828.3 + 6 1231 c.704C>T c.(703-705)cCt>cTt p.P235L GABPA_ENST00000400075.3_Missense_Mutation_p.P235L NM_001197297.1 NP_001184226.1 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha subunit 60kDa 235 PNT. positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 24 CAGCGGGTTCCTCGGGGAGAA 0.368000 13 49 0 0 1 0 0 TEX10 54881 broad.mit.edu 37 9 103108553 103108553 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:103108553G>A ENST00000374902.4 - 4 1114 c.938C>T c.(937-939)tCt>tTt p.S313F TEX10_ENST00000537512.1_Missense_Mutation_p.S248F|TEX10_ENST00000535814.1_Missense_Mutation_p.S316F NM_017746.3 NP_060216.2 Q9NXF1 TEX10_HUMAN testis expressed 10 313 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 38 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) GTTTTCAGTAGATGACAGGCC 0.368000 4 39 0 0 1 0 0 HOXA9 3205 broad.mit.edu 37 7 27204714 27204714 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:27204714G>A ENST00000343483.6 - 1 435 c.363C>T c.(361-363)ttC>ttT p.F121F RP1-170O19.20_ENST00000470747.4_Intron|HOXA9_ENST00000396345.1_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron NM_152739.3 NP_689952.1 P31269 HXA9_HUMAN homeobox A9 121 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1) 8 GCAAGCCCGCGAAGGAGAGCG 0.682000 T """NUP98, MSI2""" AML* 5 23 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42048940 42048940 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:42048940G>A ENST00000372584.1 - 3 2543 c.1529C>T c.(1528-1530)tCa>tTa p.S510L HIVEP3_ENST00000429157.2_Missense_Mutation_p.S510L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.S510L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S510L NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 510 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) ACTGTGGGATGACAGGGGCTC 0.612000 26 124 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144943077 144943077 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:144943077C>T ENST00000525985.1 - 2 4416 c.4345G>A c.(4345-4347)Gct>Act p.A1449T P58107 EPIPL_HUMAN epiplakin 1 1449 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCCCTCAGAGCCACCGCGGTG 0.617000 19 29 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154042844 154042844 + Nonsense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:154042844C>T ENST00000368559.3 - 17 2530 c.2459G>A c.(2458-2460)tGg>tAg p.W820* NUP210L_ENST00000271854.3_Nonsense_Mutation_p.W820* NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 820 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GGAGGATTTCCATTCTAGCAT 0.408000 20 44 0 0 1 0 0 NDRG4 65009 broad.mit.edu 37 16 58543244 58543244 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:58543244G>A ENST00000394282.4 + 15 1416 c.1009G>A c.(1009-1011)Ggc>Agc p.G337S NDRG4_ENST00000566192.1_Missense_Mutation_p.G285S|NDRG4_ENST00000258187.5_Missense_Mutation_p.G317S|NDRG4_ENST00000394279.2_Missense_Mutation_p.G317S|NDRG4_ENST00000562999.1_Missense_Mutation_p.G273S|NDRG4_ENST00000356752.4_Missense_Mutation_p.G315S|NDRG4_ENST00000569923.1_Missense_Mutation_p.G230S|NDRG4_ENST00000568640.1_Missense_Mutation_p.G303S|NDRG4_ENST00000570248.1_Missense_Mutation_p.G285S|NDRG4_ENST00000563799.1_Missense_Mutation_p.G303S NM_001130487.1 NP_001123959.1 Q9ULP0 NDRG4_HUMAN NDRG family member 4 285 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 CTTCCTGCAAGGCATGGGCTA 0.582000 32 45 0 0 1 0 0 TEC 7006 broad.mit.edu 37 4 48143377 48143377 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:48143377C>T ENST00000381501.3 - 15 1687 c.1530G>A c.(1528-1530)atG>atA p.M510I TEC_ENST00000511471.2_5'UTR NM_003215.2 NP_003206.2 P42680 TEC_HUMAN tec protein tyrosine kinase 510 Protein kinase. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 CATACCTGGCCATTCCAAAAT 0.363000 16 53 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9055469 9055469 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:9055469G>A ENST00000383836.3 - 16 2298 c.1871C>T c.(1870-1872)cCc>cTc p.P624L SRGAP3_ENST00000360413.3_Missense_Mutation_p.P600L NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 624 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GACCACGCGGGGAAGGGTGAC 0.547000 T RAF1 pilocytic astrocytoma 21 60 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147024426 147024426 + Missense_Mutation SNP T T G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:147024426T>G ENST00000265272.5 - 6 1537 c.1070A>C c.(1069-1071)gAa>gCa p.E357A JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E357A|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E315A NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 357 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) TTCTGAATTTTCCTTGGTAAC 0.408000 18 71 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20066904 20066904 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:20066904G>A ENST00000396085.1 + 14 3951 c.3590G>A c.(3589-3591)aGt>aAt p.S1197N NAV2_ENST00000527559.2_Missense_Mutation_p.S1149N|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Missense_Mutation_p.S1151N|NAV2_ENST00000349880.4_Missense_Mutation_p.S1197N|NAV2_ENST00000360655.4_Missense_Mutation_p.S1133N|NAV2_ENST00000396087.3_Missense_Mutation_p.S1220N|NAV2_ENST00000311043.8_Missense_Mutation_p.S283N|NAV2_ENST00000533917.1_Missense_Mutation_p.S283N NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1220 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CCGAGGCCCAGTAAGTCCAAC 0.567000 13 28 0 0 1 0 0 RBM6 10180 broad.mit.edu 37 3 50009539 50009539 + Silent SNP T T A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:50009539T>A ENST00000443081.1 + 4 1894 c.975T>A c.(973-975)ctT>ctA p.L325L RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_5'UTR|RBM6_ENST00000266022.4_Silent_p.L457L P78332 RBM6_HUMAN RNA binding motif protein 6 457 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) CCAGCAGGCTTATTCGATTAA 0.363000 14 45 0 0 1 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227213842 227213842 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:227213842G>A ENST00000366769.3 - 30 5630 c.4339C>T c.(4339-4341)Cca>Tca p.P1447S CDC42BPA_ENST00000334218.5_Missense_Mutation_p.P1447S|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.P1427S|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.P1482S|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.P1419S|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.P1460S|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.P1366S NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 1460 CNH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) GAGAGATATGGTGCATTGTAA 0.388000 6 24 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37029246 37029246 + Missense_Mutation SNP A A C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chrX:37029246A>C ENST00000358047.3 + 1 2815 c.2763A>C c.(2761-2763)aaA>aaC p.K921N NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 921 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TGGACGGGAAAATCCAGAATG 0.458000 22 21 0 0 1 0 0 APEH 327 broad.mit.edu 37 3 49712680 49712680 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:49712680C>T ENST00000296456.5 + 3 610 c.210C>T c.(208-210)ttC>ttT p.F70F APEH_ENST00000438011.1_Silent_p.F70F NM_001640.3 NP_001631.3 P13798 ACPH_HUMAN acylaminoacyl-peptide hydrolase 70 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ACCTGGTGTTCCATGACGGGG 0.577000 5 24 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139369519 139369519 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:139369519G>A ENST00000313050.7 - 1 2622 c.2549C>T c.(2548-2550)tCg>tTg p.S850L SEC16A_ENST00000290037.6_Missense_Mutation_p.S672L|SEC16A_ENST00000431893.2_Missense_Mutation_p.S672L|SEC16A_ENST00000371706.3_Missense_Mutation_p.S672L NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 672 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) ATGAGAGTTCGATAAGGACAC 0.512000 5 24 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139350554 139350554 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:139350554G>A ENST00000313050.7 - 17 5688 c.5615C>T c.(5614-5616)gCc>gTc p.A1872V SEC16A_ENST00000290037.6_Missense_Mutation_p.A1694V|SEC16A_ENST00000431893.2_Missense_Mutation_p.A1694V|SEC16A_ENST00000371706.3_Missense_Mutation_p.A1694V NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1694 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CGTGGGTGCGGCCAAGGACTC 0.582000 20 51 0 0 1 0 0 C17orf67 339210 broad.mit.edu 37 17 54892244 54892244 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:54892244C>T ENST00000397861.2 - 6 1421 c.142G>A c.(142-144)Gat>Aat p.D48N C17orf67_ENST00000575658.1_Missense_Mutation_p.D72N|C17orf67_ENST00000397862.2_Missense_Mutation_p.D72N Q0P5P2 CQ067_HUMAN chromosome 17 open reading frame 67 72 extracellular region NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 7 Breast(9;2.49e-06) ATTGGCTCATCGGGGAATCCG 0.498000 123 367 0 0 1 0 0 ZNF333 84449 broad.mit.edu 37 19 14810037 14810037 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:14810037G>A ENST00000292530.6 + 5 341 c.250G>A c.(250-252)Gag>Aag p.E84K ZNF333_ENST00000601134.1_Intron|ZNF333_ENST00000601629.1_3'UTR|ZNF333_ENST00000540689.2_Missense_Mutation_p.E84K|ZNF333_ENST00000536363.1_5'UTR NM_032433.2 NP_115809.1 Q96JL9 ZN333_HUMAN zinc finger protein 333 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1) 21 TAAACCCGAAGAGTTGCCTTC 0.423000 27 98 0 0 1 0 0 MPHOSPH10 10199 broad.mit.edu 37 2 71361229 71361229 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:71361229C>T ENST00000244230.2 + 3 1272 c.920C>T c.(919-921)tCg>tTg p.S307L MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.S307L NM_005791.2 NP_005782.1 O00566 MPP10_HUMAN M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) 307 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1) 26 CTAAGTATTTCGGAAACGTGA 0.358000 16 50 0 0 1 0 0 PELP1 27043 broad.mit.edu 37 17 4575322 4575322 + Silent SNP G G A rs139398595 by1000genomes TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:4575322G>A ENST00000301396.4 - 16 3621 c.3396C>T c.(3394-3396)ccC>ccT p.P1132P PELP1_ENST00000574876.1_Silent_p.P988P|PELP1_ENST00000572293.1_Silent_p.P1038P|PELP1_ENST00000269230.7_Silent_p.P898P|PELP1_ENST00000436683.2_Intron Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 988 transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 GAGACTCAGGGGGAGGCAGAG 0.622000 5 3 0 0 1 0 0 DNAH14 127602 broad.mit.edu 37 1 225140444 225140444 + Nonsense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:225140444C>T ENST00000430092.1 + 2 255 c.40C>T c.(40-42)Caa>Taa p.Q14* DNAH14_ENST00000366848.1_Nonsense_Mutation_p.Q14*|DNAH14_ENST00000439375.2_Nonsense_Mutation_p.Q14*|DNAH14_ENST00000498360.1_3'UTR|DNAH14_ENST00000400952.3_Nonsense_Mutation_p.Q14*|DNAH14_ENST00000366849.1_Nonsense_Mutation_p.Q14*|DNAH14_ENST00000366850.3_Nonsense_Mutation_p.Q14* NM_001373.1 NP_001364.1 Q0VDD8 DYH14_HUMAN dynein, axonemal, heavy chain 14 191 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1) 27 AACTGAAAATCAAGAGATGGA 0.308000 3 11 0 0 1 0 0 GPR137 56834 broad.mit.edu 37 11 64055574 64055574 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:64055574C>T ENST00000539851.1 + 5 1138 c.671C>T c.(670-672)gCc>gTc p.A224V GPR137_ENST00000313074.3_Missense_Mutation_p.A224V|GPR137_ENST00000438980.2_Missense_Mutation_p.A224V|GPR137_ENST00000411458.1_Missense_Mutation_p.A282V|GPR137_ENST00000377702.4_Intron NM_001177358.1 NP_001170829.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 224 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 ATGGGTGGCGCCATGGTCCTG 0.632000 19 74 0 0 1 0 0 CYP4F22 126410 broad.mit.edu 37 19 15655085 15655085 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:15655085G>A ENST00000269703.2 + 10 1330 c.1131G>A c.(1129-1131)ctG>ctA p.L377L CYP4F22_ENST00000601005.2_Silent_p.L377L NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 377 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 TGGAGGAGCTGGAGTGGTGag 0.542000 4 27 0 0 1 0 0 CCDC84 338657 broad.mit.edu 37 11 118869782 118869782 + Nonsense_Mutation SNP A A T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:118869782A>T ENST00000334418.1 + 3 402 c.346A>T c.(346-348)Aaa>Taa p.K116* CCDC84_ENST00000580556.1_3'UTR NM_198489.1 NP_940891.1 Q86UT8 CCD84_HUMAN coiled-coil domain containing 84 116 breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) GGTCCAGATGAAAGAGAAGTT 0.453000 10 18 0 0 1 0 0 CRY2 1408 broad.mit.edu 37 11 45891909 45891909 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:45891909C>T ENST00000443527.2 + 9 1460 c.1438C>T c.(1438-1440)Ccc>Tcc p.P480S CRY2_ENST00000417225.2_Missense_Mutation_p.P398S NM_021117.3 NP_066940.2 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) 459 FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity). DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 GAAAGCGTTCCCCTCTCGATA 0.522000 7 49 0 0 1 0 0 ECHS1 1892 broad.mit.edu 37 10 135178172 135178172 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr10:135178172G>A ENST00000368547.3 - 7 1152 c.797C>T c.(796-798)aCc>aTc p.T266I NM_004092.3 NP_004083.3 P30084 ECHM_HUMAN enoyl CoA hydratase, short chain, 1, mitochondrial 266 fatty acid beta-oxidation mitochondrial matrix enoyl-CoA hydratase activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1) 10 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06) AGTGGCAAAGGTTGAATAAAA 0.353000 7 17 0 0 1 0 0 SLC11A1 6556 broad.mit.edu 37 2 219257709 219257709 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:219257709C>T ENST00000233202.6 + 12 1510 c.1170C>T c.(1168-1170)ttC>ttT p.F390F SLC11A1_ENST00000539932.1_Silent_p.F272F NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 390 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCAGGGCTTCCTGAGGCTGC 0.632000 10 47 0 0 1 0 0 RIPK1 8737 broad.mit.edu 37 6 3105746 3105746 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:3105746C>T ENST00000259808.4 + 9 1335 c.1037C>T c.(1036-1038)tCc>tTc p.S346F RIPK1_ENST00000541791.1_Missense_Mutation_p.S300F|RIPK1_ENST00000380409.2_Missense_Mutation_p.S346F|RIPK1_ENST00000479389.1_3'UTR Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 346 Interaction with SQSTM1. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) CTGCACAGTTCCCAGGGACTT 0.483000 64 210 0 0 1 0 0 NEGR1 257194 broad.mit.edu 37 1 72076812 72076812 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:72076812C>T ENST00000357731.4 - 5 924 c.685G>A c.(685-687)Gaa>Aaa p.E229K NEGR1_ENST00000306821.3_Missense_Mutation_p.E101K|NEGR1_ENST00000434200.1_Missense_Mutation_p.E183K NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 229 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) GATTTAATTTCCTGAATAGTA 0.403000 15 52 0 0 1 0 0 EFR3A 23167 broad.mit.edu 37 8 133008661 133008661 + Nonsense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:133008661C>T ENST00000254624.5 + 19 2299 c.2074C>T c.(2074-2076)Cga>Tga p.R692* EFR3A_ENST00000519656.1_Nonsense_Mutation_p.R656*|EFR3A_ENST00000334503.4_Nonsense_Mutation_p.R692* NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 692 plasma membrane binding p.R692*(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) AGATGAAGATCGACTTTCTAG 0.308000 3 17 0 0 1 0 0 A4GALT 53947 broad.mit.edu 37 22 43089378 43089378 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr22:43089378C>T ENST00000401850.1 - 2 1069 c.580G>A c.(580-582)Gac>Aac p.D194N A4GALT_ENST00000249005.2_Missense_Mutation_p.D194N|A4GALT_ENST00000381278.3_Missense_Mutation_p.D194N Q9NPC4 A4GAT_HUMAN alpha 1,4-galactosyltransferase 194 glycosphingolipid biosynthetic process|plasma membrane organization Golgi stack|integral to Golgi membrane|membrane fraction lactosylceramide 4-alpha-galactosyltransferase activity NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1) 11 ACAATGAAGTCCGTGTCCAGG 0.652000 12 56 0 0 1 0 0 BCCIP 56647 broad.mit.edu 37 10 127520150 127520150 + Silent SNP C C T rs143179971 TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr10:127520150C>T ENST00000299130.3 + 5 585 c.573C>T c.(571-573)atC>atT p.I191I BCCIP_ENST00000368759.5_Silent_p.I191I|BCCIP_ENST00000429863.2_Silent_p.I161I|BCCIP_ENST00000278100.6_Silent_p.I191I NM_078469.2 NP_510869.1 Q9P287 BCCIP_HUMAN BRCA2 and CDKN1A interacting protein 191 Interaction with CDKN1A. cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1) 8 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) CTCCACAGATCGCTCTGCCCA 0.388000 16 42 0 0 1 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186915786 186915786 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:186915786C>T ENST00000367466.3 + 11 1203 c.1051C>T c.(1051-1053)Cca>Tca p.P351S PLA2G4A_ENST00000442353.2_Missense_Mutation_p.P291S NM_024420.2 NP_077734.1 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 351 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TGAATTTAGTCCATACGAAAT 0.328000 4 35 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363360 22363360 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:22363360G>A ENST00000397121.2 - 3 1476 c.1159C>T c.(1159-1161)Cat>Tat p.H387Y NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 387 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TCTTCAGCATGAATTGCCTTA 0.393000 12 46 0 0 1 0 0 UBXN4 23190 broad.mit.edu 37 2 136537915 136537915 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:136537915G>A ENST00000272638.9 + 12 1659 c.1348G>A c.(1348-1350)Gaa>Aaa p.E450K UBXN4_ENST00000490163.1_3'UTR NM_014607.3 NP_055422.1 Q92575 UBXN4_HUMAN UBX domain protein 4 450 response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 24 AACATCGTCAGAACCCCCAAA 0.388000 23 73 0 0 1 0 0 GPR137 56834 broad.mit.edu 37 11 64055575 64055575 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:64055575C>T ENST00000539851.1 + 5 1139 c.672C>T c.(670-672)gcC>gcT p.A224A GPR137_ENST00000313074.3_Silent_p.A224A|GPR137_ENST00000438980.2_Silent_p.A224A|GPR137_ENST00000411458.1_Silent_p.A282A|GPR137_ENST00000377702.4_Intron NM_001177358.1 NP_001170829.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 224 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 TGGGTGGCGCCATGGTCCTGC 0.632000 21 72 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9086857 9086857 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:9086857C>T ENST00000397910.4 - 1 5161 c.4958G>A c.(4957-4959)gGa>gAa p.G1653E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1653 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAGGATGTTCCTATGGGAAG 0.512000 23 69 0 0 1 0 0 CWC22 57703 broad.mit.edu 37 2 180835380 180835380 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:180835380G>A ENST00000410053.3 - 10 1443 c.1144C>T c.(1144-1146)Ctt>Ttt p.L382F CWC22_ENST00000295749.6_Missense_Mutation_p.L382F NM_020943.2 NP_065994.1 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog (S. cerevisiae) 382 catalytic step 2 spliceosome protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1) 30 GACTTACTAAGAACATCTTCT 0.363000 3 8 0 0 1 0 0 ERAP2 64167 broad.mit.edu 37 5 96215914 96215914 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:96215914C>T ENST00000437043.3 + 2 1236 c.525C>T c.(523-525)ggC>ggT p.G175G CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Silent_p.G175G|ERAP2_ENST00000510309.1_Silent_p.G175G NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 175 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) TAGGTGATGGCTTTGAAGGGT 0.408000 6 20 0 0 1 0 0 C16orf71 146562 broad.mit.edu 37 16 4790201 4790201 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:4790201G>A ENST00000299320.5 + 4 802 c.324G>A c.(322-324)caG>caA p.Q108Q C16orf71_ENST00000590191.1_Silent_p.Q122Q|RP11-127I20.7_ENST00000588099.1_RNA NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 108 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 GGTGCAGACAGAACACAAGGA 0.522000 21 72 0 0 1 0 0 CDR2L 30850 broad.mit.edu 37 17 72999951 72999951 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:72999951C>T ENST00000337231.5 + 5 1592 c.1180C>T c.(1180-1182)Cgg>Tgg p.R394W NM_014603.2 NP_055418.2 Q86X02 CDR2L_HUMAN cerebellar degeneration-related protein 2-like 394 all_lung(278;0.226) CCCCATCTCCCGGGACAGCTC 0.701000 4 6 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117116893 117116893 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:117116893G>A ENST00000310357.3 - 5 1675 c.1654C>T c.(1654-1656)Cat>Tat p.H552Y GPRC6A_ENST00000530250.1_Missense_Mutation_p.H377Y|GPRC6A_ENST00000368549.3_Missense_Mutation_p.H481Y NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 552 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) TTAGTGTAATGATTTTCAGGA 0.363000 30 52 0 0 1 0 0 UBE4A 9354 broad.mit.edu 37 11 118253383 118253383 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:118253383C>T ENST00000252108.3 + 13 2220 c.2089C>T c.(2089-2091)Ccc>Tcc p.P697S UBE4A_ENST00000545354.1_Missense_Mutation_p.P169S|UBE4A_ENST00000431736.2_Missense_Mutation_p.P704S NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 697 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) GACCCCAAATCCCTTGGTATC 0.498000 35 112 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42360998 42360998 + Missense_Mutation SNP A A T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:42360998A>T ENST00000298119.4 + 4 3120 c.1931A>T c.(1930-1932)aAa>aTa p.K644I LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron NM_152447.3 NP_689660.2 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 644 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CAAAAGCAGAAAAGAAAGACT 0.453000 HNSCC(30;0.082) 8 26 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76382049 76382049 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr13:76382049C>T ENST00000357063.3 + 11 3046 c.1786C>T c.(1786-1788)Ccc>Tcc p.P596S LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.P596S|LMO7_ENST00000465261.2_Missense_Mutation_p.P311S|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.P311S Q8WWI1 LMO7_HUMAN LIM domain 7 596 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) AGTCCCTTTTCCCGAACCCTG 0.438000 26 87 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47178348 47178348 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:47178348G>A ENST00000447411.1 - 6 676 c.470C>T c.(469-471)tCc>tTc p.S157F SLC38A4_ENST00000266579.4_Missense_Mutation_p.S157F NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 157 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) CATTGTAATGGAAACAAAAGC 0.333000 8 35 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16907280 16907280 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:16907280G>A ENST00000430580.2 - 16 2438 c.1551C>T c.(1549-1551)tcC>tcT p.S517S NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 517 NBPF 2. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CATCATGAGAGGATTCTCTGT 0.453000 61 1796 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55565910 55565910 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:55565910C>T ENST00000288135.5 + 4 831 c.734C>T c.(733-735)aCg>aTg p.T245M NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 245 Ig-like C2-type 3. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GTGTACTCAACGTGGAAAAGA 0.428000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 19 52 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27875431 27875431 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:27875431C>T ENST00000374011.2 - 6 4164 c.3196G>A c.(3196-3198)Ggt>Agt p.G1066S AHDC1_ENST00000247087.5_Missense_Mutation_p.G1066S|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1066 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) ATGTAGCCACCGGGCGAGACT 0.672000 5 12 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33586685 33586685 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr20:33586685C>T ENST00000262873.7 + 33 4375 c.4283C>T c.(4282-4284)gCc>gTc p.A1428V NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1386 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GAAGCAGATGCCATCCAGAGG 0.637000 5 28 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67759456 67759456 + Splice_Site SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr18:67759456C>T ENST00000255674.6 - 30 4319 c.4032_splice c.e30-1 p.E1345_splice RTTN_ENST00000437017.1_Splice_Site_p.E1345_splice|RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1345 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GACATCCACTCCTAGAGGGAA 0.353000 10 36 0 0 1 0 0 C17orf97 400566 broad.mit.edu 37 17 263404 263404 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:263404C>T ENST00000360127.6 + 2 786 c.770C>T c.(769-771)cCc>cTc p.P257L AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 287 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 GGCTTCCACCCCGACCCCGAG 0.692000 3 4 0 0 1 0 0 SCNN1G 6340 broad.mit.edu 37 16 23224033 23224033 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:23224033C>T ENST00000300061.2 + 9 1472 c.1329C>T c.(1327-1329)gtC>gtT p.V443V CTC-391G2.1_ENST00000563471.1_RNA NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 443 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) GAGCCTTTGTCCAGGAAGAGC 0.597000 20 63 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186670256 186670256 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:186670256C>T ENST00000343098.5 + 17 16490 c.16490C>T c.(16489-16491)tCa>tTa p.S5497L FSIP2_ENST00000424728.1_Missense_Mutation_p.S5408L NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 ACCTTCTTTTCATTTCTAAAT 0.388000 16 68 0 0 1 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47338945 47338945 + RNA SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:47338945C>T ENST00000505841.1 - 0 849 NR_002788.2 TCCAGAAAATCCTGGCGTCTT 0.368000 3 20 0 0 1 0 0 CCDC146 57639 broad.mit.edu 37 7 76903071 76903071 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:76903071G>A ENST00000285871.4 + 10 1361 c.1234G>A c.(1234-1236)Gaa>Aaa p.E412K CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000415740.2_Intron NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 412 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) GCTTCACAAGGAAGTTGAAGT 0.353000 18 107 0 0 1 0 0 NUGGC 389643 broad.mit.edu 37 8 27927145 27927145 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:27927145C>T ENST00000413272.2 - 4 315 c.173G>A c.(172-174)aGa>aAa p.R58K NUGGC_ENST00000341513.6_Missense_Mutation_p.R58K NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated CAAAACCCTTCTGGTCCGTGA 0.438000 15 84 0 0 1 0 0 KIAA0368 23392 broad.mit.edu 37 9 114156562 114156562 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:114156562G>A ENST00000259335.4 - 27 3333 c.3334C>T c.(3334-3336)Cca>Tca p.P1112S KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.P934S NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 AACACCCATGGAACCACATCA 0.393000 3 16 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179584104 179584104 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:179584104C>T ENST00000589042.1 - 83 24237 c.24013G>A c.(24013-24015)Gag>Aag p.E8005K TTN_ENST00000342992.6_Missense_Mutation_p.E6761K|TTN_ENST00000591111.1_Missense_Mutation_p.E7688K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7688 Ig-like 62. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTCGGCACTCCAAAACAACT 0.512000 29 78 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53084982 53084982 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:53084982C>T ENST00000276480.7 - 10 1122 c.439G>A c.(439-441)Gaa>Aaa p.E147K NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 147 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E147K(1) 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) TTTAAATTTTCACTTACAGTC 0.378000 30 55 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572237 140572237 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:140572237G>A ENST00000239446.4 + 1 296 c.112G>A c.(112-114)Gaa>Aaa p.E38K NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 38 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGACTGAGGAAACAGAGAA 0.498000 29 89 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6959434 6959434 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr18:6959434C>T ENST00000389658.3 - 54 7777 c.7684G>A c.(7684-7686)Gat>Aat p.D2562N NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2562 Laminin G-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTGTCCCATCCCCAGGATTG 0.522000 8 56 0 0 1 0 0 SMPDL3B 27293 broad.mit.edu 37 1 28285052 28285052 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:28285052C>T ENST00000373894.3 + 8 1262 c.1071C>T c.(1069-1071)ctC>ctT p.L357L SMPDL3B_ENST00000549094.1_Silent_p.L309L|RP11-460I13.2_ENST00000448015.1_RNA NM_014474.2 NP_055289.2 Q92485 ASM3B_HUMAN sphingomyelin phosphodiesterase, acid-like 3B 357 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 16 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055) GCTGGGAGCTCGAGTACCAGC 0.637000 18 58 0 0 1 0 0 E2F8 79733 broad.mit.edu 37 11 19246247 19246247 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:19246247G>A ENST00000527884.1 - 13 2794 c.2562C>T c.(2560-2562)gtC>gtT p.V854V E2F8_ENST00000250024.4_Silent_p.V854V|RP11-428C19.4_ENST00000527978.1_RNA NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 854 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TTCGCTGTGGGACAAAGAGAG 0.418000 16 52 0 0 1 0 0 TRIM11 81559 broad.mit.edu 37 1 228582669 228582669 + Missense_Mutation SNP A A C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:228582669A>C ENST00000493030.2 - 5 4478 c.769T>G c.(769-771)Ttc>Gtc p.F257V RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Missense_Mutation_p.F382V Q96F44 TRI11_HUMAN tripartite motif containing 11 382 response to virus cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 18 Prostate(94;0.0724) CTCCCCAGGAAGACCAGGATC 0.637000 18 79 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49445391 49445391 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:49445391G>A ENST00000301067.7 - 10 2074 c.2075C>T c.(2074-2076)cCa>cTa p.P692L NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GTCCTCAGGTGGTGGGGAGAG 0.662000 17 81 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135745406 135745406 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:135745406C>T ENST00000375845.3 - 7 1066 c.1036G>A c.(1036-1038)Gaa>Aaa p.E346K MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.E363K|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.E233K|MAP3K19_ENST00000375844.3_Intron NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 ATATCCTCTTCCCTAACTGCA 0.363000 5 21 0 0 1 0 0 SLC13A4 26266 broad.mit.edu 37 7 135376074 135376074 + Splice_Site SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:135376074C>T ENST00000354042.4 - 13 2008 c.e13-1 C7orf73_ENST00000422968.1_Intron NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 integral to plasma membrane sodium:sulfate symporter activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 TGGTTCTCTCCTGGATTAGAG 0.507000 13 43 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15365004 15365004 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:15365004G>A ENST00000263377.2 - 11 2338 c.2117C>T c.(2116-2118)tCc>tTc p.S706F BRD4_ENST00000360016.5_Missense_Mutation_p.S706F|BRD4_ENST00000371835.4_Missense_Mutation_p.S706F NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 706 Poly-Ser.|Ser-rich. interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GGACTCACTGGAGCTCTCCGA 0.537000 T C15orf55 lethal midline carcinoma of young people 13 45 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73456957 73456957 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:73456957C>T ENST00000252034.7 + 6 645 c.246C>T c.(244-246)ttC>ttT p.F82F ELN_ENST00000380575.4_Silent_p.F72F|ELN_ENST00000380553.4_Intron|ELN_ENST00000445912.1_Silent_p.F82F|ELN_ENST00000320399.6_Silent_p.F82F|ELN_ENST00000414324.1_Silent_p.F72F|ELN_ENST00000357036.5_Silent_p.F82F|ELN_ENST00000429192.1_Silent_p.F82F|ELN_ENST00000380576.5_Silent_p.F82F|ELN_ENST00000380562.4_Silent_p.F82F|ELN_ENST00000320492.7_Silent_p.F70F|ELN_ENST00000458204.1_Silent_p.F72F|ELN_ENST00000358929.4_Silent_p.F82F|ELN_ENST00000380584.4_Silent_p.F82F NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 82 blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) TCGGCGCCTTCCCCGCAGTTA 0.637000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 22 46 0 0 1 0 0 TOMM40L 84134 broad.mit.edu 37 1 161198754 161198754 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:161198754G>A ENST00000367988.3 + 10 1065 c.796G>A c.(796-798)Gat>Aat p.D266N TOMM40L_ENST00000545897.1_Missense_Mutation_p.D232N|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000367987.1_Missense_Mutation_p.D266N NM_032174.4 NP_115550.2 Q969M1 TM40L_HUMAN translocase of outer mitochondrial membrane 40 homolog (yeast)-like 266 protein transport mitochondrial outer membrane|pore complex porin activity|voltage-gated anion channel activity large_intestine(2)|liver(4)|lung(4) 10 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) AGGCTTGGTGGATAGTAACTG 0.522000 32 76 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72827783 72827783 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:72827783G>A ENST00000268489.5 - 9 9470 c.8798C>T c.(8797-8799)tCt>tTt p.S2933F ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2019F NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2933 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TTTGCCTGCAGATCCACTCGC 0.498000 22 32 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 71535338 71535338 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:71535338G>A ENST00000355327.3 + 5 949 c.815G>A c.(814-816)gGg>gAg p.G272E THSD4_ENST00000261862.6_Missense_Mutation_p.G272E Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 272 TSP type-1 1. proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CACGGTGTGGGGACCCATGGG 0.557000 7 68 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133226278 133226278 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:133226278G>A ENST00000320574.5 - 30 3823 c.3780C>T c.(3778-3780)gcC>gcT p.A1260A POLE_ENST00000535270.1_Silent_p.A1233A NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1260 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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 chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TGGTTCCCAGGGCGGGAGGCT 0.622000 DNA polymerases (catalytic subunits) 56 104 0 0 1 0 0 RBM5 10181 broad.mit.edu 37 3 50137503 50137503 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:50137503C>T ENST00000469838.1 + 5 592 c.428C>T c.(427-429)tCc>tTc p.S143F RBM5_ENST00000347869.3_Intron P52756 RBM5_HUMAN RNA binding motif protein 5 0 RRM 1. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TTGCTTAGTTCCTGATATTAT 0.478000 7 7 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804350 27804350 + Missense_Mutation SNP C C G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:27804350C>G ENST00000408964.2 + 1 4962 c.4911C>G c.(4909-4911)agC>agG p.S1637R NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1637 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CTCAGAGGAGCCATCGCGGTC 0.572000 34 140 0 0 1 0 0 CCDC180 100499483 broad.mit.edu 37 9 100076681 100076681 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:100076681G>A ENST00000375202.2 + 20 1950 c.598G>A c.(598-600)Gaa>Aaa p.E200K CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.E197K|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.E339K|CCDC180_ENST00000395220.1_Missense_Mutation_p.E339K|CCDC180_ENST00000529487.1_Missense_Mutation_p.E200K coiled-coil domain containing 180 GCAGGAAATGGAACCTCTCAT 0.522000 18 36 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 118199202 118199202 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:118199202C>T ENST00000425217.1 - 4 567 c.513G>A c.(511-513)agG>agA p.R171R KSR2_ENST00000339824.5_Silent_p.R200R NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 200 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGACGGGACCCTGGGGCTCT 0.672000 7 47 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50211074 50211074 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:50211074G>A ENST00000284509.6 - 19 2138 c.1997C>T c.(1996-1998)gCc>gTc p.A666V ATP8B4_ENST00000559829.1_Missense_Mutation_p.A666V NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 666 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) CTTAATATTGGCTAGTGATAA 0.343000 24 61 0 0 1 0 0 TSPAN8 7103 broad.mit.edu 37 12 71531774 71531774 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:71531774C>T ENST00000393330.2 - 9 955 c.403G>A c.(403-405)Gaa>Aaa p.E135K TSPAN8_ENST00000247829.3_Missense_Mutation_p.E135K|TSPAN8_ENST00000552128.1_Missense_Mutation_p.E52K|TSPAN8_ENST00000546561.1_Missense_Mutation_p.E135K P19075 TSN8_HUMAN tetraspanin 8 135 protein glycosylation integral to membrane|lysosome signal transducer activity p.E135K(1) breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) AATTGTTTTTCACTTTCCCCT 0.338000 20 52 0 0 1 0 0 PYGL 5836 broad.mit.edu 37 14 51382068 51382068 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:51382068G>A ENST00000216392.7 - 11 1721 c.1389C>T c.(1387-1389)atC>atT p.I463I PYGL_ENST00000544180.2_Silent_p.I429I|PYGL_ENST00000532462.1_Silent_p.I463I NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 463 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding p.I463I(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) TAGTCTTCACGATGTCTGAGT 0.473000 40 111 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519160 113519160 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:113519160C>T ENST00000284601.3 - 4 2055 c.1987G>A c.(1987-1989)Gga>Aga p.G663R NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 663 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CTTGATTTTCCCTGACTTTCC 0.363000 25 93 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 141008926 141008926 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:141008926C>T ENST00000277549.5 + 41 5784 c.3215C>T c.(3214-3216)cCt>cTt p.P1072L CACNA1B_ENST00000277551.2_Missense_Mutation_p.P1878L|CACNA1B_ENST00000371372.1_Missense_Mutation_p.P1878L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.P1879L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.P1877L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.P1876L Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1878 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CAGCAGGCTCCTGGAGGCCTC 0.562000 4 7 0 0 1 0 0 VARS2 57176 broad.mit.edu 37 6 30892226 30892226 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:30892226C>T ENST00000321897.5 + 25 3194 c.2562C>T c.(2560-2562)gcC>gcT p.A854A VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Silent_p.A714A|VARS2_ENST00000541562.1_Silent_p.A884A|VARS2_ENST00000416670.2_Silent_p.A854A Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 854 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 GCCTCCTGGCCCCACTGATGC 0.716000 15 42 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208808 140208808 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:140208808G>A ENST00000529310.1 + 1 1246 c.1132G>A c.(1132-1134)Gat>Aat p.D378N PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D378N|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACGACCTCGATTCAGGTGC 0.517000 53 147 0 0 1 0 0 KCNK1 3775 broad.mit.edu 37 1 233807144 233807144 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:233807144C>T ENST00000366621.3 + 3 1047 c.879C>T c.(877-879)atC>atT p.I293I KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Silent_p.I177I NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 293 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) AGGTGCACATCATAGAGCATG 0.463000 10 31 0 0 1 0 0 GABRB1 2560 broad.mit.edu 37 4 47427948 47427948 + Silent SNP G G A rs79262532 TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:47427948G>A ENST00000295454.3 + 9 1630 c.1338G>A c.(1336-1338)gtG>gtA p.V446V GABRB1_ENST00000538619.1_Silent_p.V376V NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 446 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TGACTGATGTGAATTCCATAG 0.527000 31 92 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89979887 89979887 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:89979887G>A ENST00000405460.2 + 28 6245 c.6149G>A c.(6148-6150)gGa>gAa p.G2050E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2050 Calx-beta 14. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GCTCTTTTTGGAGCTAATCAG 0.383000 19 59 0 0 1 0 0 DTNBP1 84062 broad.mit.edu 37 6 15627591 15627591 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:15627591G>A ENST00000338950.5 - 5 443 c.338C>T c.(337-339)tCc>tTc p.S113F DTNBP1_ENST00000355917.3_Missense_Mutation_p.S113F|DTNBP1_ENST00000344537.5_Missense_Mutation_p.S113F NM_183040.2 NP_898861.1 Q96EV8 DTBP1_HUMAN dystrobrevin binding protein 1 113 actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) TGCTGTCATGGATTCTAAGTC 0.443000 Hermansky-Pudlak syndrome 14 39 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164730793 164730793 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:164730793G>A ENST00000264382.3 - 34 4099 c.4037C>T c.(4036-4038)aCt>aTt p.T1346I NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1346 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTCCGTTAGAGTTTTATCTAT 0.328000 HNSCC(35;0.089) 12 58 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113444370 113444370 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:113444370G>A ENST00000392583.2 + 8 1828 c.1621G>A c.(1621-1623)Gat>Aat p.D541N RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.D541N NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 541 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CAAACTAAAGGATTTAATTCG 0.458000 21 96 0 0 1 0 0 TAF15 8148 broad.mit.edu 37 17 34161572 34161572 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:34161572C>T ENST00000588240.1 + 9 758 c.643C>T c.(643-645)Cac>Tac p.H215Y TAF15_ENST00000311979.3_Missense_Mutation_p.H212Y|TAF15_ENST00000592237.1_Missense_Mutation_p.H124Y NM_003487.3|NM_139215.2 NP_003478.1|NP_631961.1 Q92804 RBP56_HUMAN TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 215 positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) lung(1)|ovary(1)|skin(2)|stomach(1) 5 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) TCCCTTAGGTCACAGGGATTA 0.313000 T """TEC, CHN1, ZNF384""" """extraskeletal myxoid chondrosarcomas, ALL""" 12 36 0 0 1 0 0 KLK8 11202 broad.mit.edu 37 19 51503820 51503820 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:51503820C>T ENST00000600767.1 - 4 579 c.90G>A c.(88-90)gaG>gaA p.E30E CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000376832.4_3'UTR|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000391806.2_Silent_p.E75E|KLK9_ENST00000250366.6_3'UTR|KLK8_ENST00000291726.7_Silent_p.E30E|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000320838.5_Intron O60259 KLK8_HUMAN kallikrein-related peptidase 8 30 cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) GCACCTTGTCCTCCTGTGCCC 0.632000 16 59 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 55768834 55768834 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:55768834C>T ENST00000288221.6 - 15 2932 c.2677G>A c.(2677-2679)Gaa>Aaa p.E893K NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 893 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CGGTCTTTTTCCCGCTTGAGG 0.483000 6 25 0 0 1 0 0 RGMA 56963 broad.mit.edu 37 15 93588450 93588450 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:93588450G>A ENST00000329082.7 - 4 1402 c.1131C>T c.(1129-1131)gcC>gcT p.A377A RGMA_ENST00000557301.1_Silent_p.A385A|RGMA_ENST00000543599.1_Silent_p.A361A|RGMA_ENST00000542321.2_Silent_p.A361A|RGMA_ENST00000538818.1_Silent_p.A268A|RGMA_ENST00000425933.2_Silent_p.A361A|RGMA_ENST00000556658.1_Silent_p.A268A|RGMA_ENST00000557420.1_3'UTR NM_020211.2 NP_064596.2 Q96B86 RGMA_HUMAN repulsive guidance molecule family member a 377 axon guidance anchored to membrane|endoplasmic reticulum|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 9 Lung NSC(78;0.0542)|all_lung(78;0.0786) BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108) CGAAGACGCAGGCCTGGTAGT 0.612000 8 12 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141777563 141777563 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:141777563G>A ENST00000389484.3 - 12 2869 c.1898C>T c.(1897-1899)tCt>tTt p.S633F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 633 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCGACTCTGAGAAGCTTTTTC 0.418000 TSP Lung(27;0.18) 14 73 0 0 1 0 0 LRRC55 219527 broad.mit.edu 37 11 56949922 56949922 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:56949922C>T ENST00000497933.1 + 1 702 c.555C>T c.(553-555)atC>atT p.I185I NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 155 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 TAGTCCACATCGACCTGAGCC 0.612000 10 38 0 0 1 0 0 ZYX 7791 broad.mit.edu 37 7 143086960 143086960 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:143086960C>T ENST00000322764.5 + 9 1849 c.1504C>T c.(1504-1506)Ccg>Tcg p.P502S ZYX_ENST00000449423.2_Missense_Mutation_p.P415S|ZYX_ENST00000392910.2_Missense_Mutation_p.P345S NM_001010972.1|NM_003461.4 NP_001010972.1|NP_003452.1 Q15942 ZYX_HUMAN zyxin 502 LIM zinc-binding 2. cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1) 17 Melanoma(164;0.205) GCAGTACGCCCCGAGGTGCTC 0.607000 12 54 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21148719 21148719 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr10:21148719C>T ENST00000377122.4 - 8 1117 c.721G>A c.(721-723)Gat>Aat p.D241N NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 241 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGTTTCTTATCCTTCATTTCA 0.299000 6 14 0 0 1 0 0 ADAM32 203102 broad.mit.edu 37 8 39068779 39068779 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:39068779C>T ENST00000379907.4 + 12 1296 c.1169C>T c.(1168-1170)cCg>cTg p.P390L ADAM32_ENST00000437682.2_Intron|ADAM32_ENST00000519315.1_Intron NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 390 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) AAAAAATCTCCGAAACCAGTC 0.358000 7 5 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62299433 62299433 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:62299433G>A ENST00000371158.2 + 17 2202 c.2088G>A c.(2086-2088)ttG>ttA p.L696L INADL_ENST00000316485.6_Silent_p.L696L NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 696 PDZ 5. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GTAAAGGTTTGGGATTCAGCA 0.368000 18 50 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179433788 179433788 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:179433788C>T ENST00000589042.1 - 326 77295 c.77071G>A c.(77071-77073)Gat>Aat p.D25691N TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D23123N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D24050N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16626N|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D16818N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D16751N|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24050 Ig-like 125. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTAATTGGATCAGCAGTCTGG 0.438000 23 83 0 0 1 0 0 TAF2 6873 broad.mit.edu 37 8 120744192 120744192 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:120744192G>A ENST00000378164.2 - 26 3870 c.3572C>T c.(3571-3573)tCt>tTt p.S1191F NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 1191 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AGAACGAATAGACCTGCCACT 0.428000 47 55 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160035353 160035353 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:160035353C>T ENST00000263635.6 + 14 2426 c.2189C>T c.(2188-2190)cCc>cTc p.P730L TANC1_ENST00000454300.1_Missense_Mutation_p.P624L NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 730 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 AAGGTGGTGCCCGTGTCTCTC 0.562000 32 130 0 0 1 0 0 EPS15L1 58513 broad.mit.edu 37 19 16472743 16472743 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:16472743G>A ENST00000455140.2 - 23 2499 c.2433C>T c.(2431-2433)ccC>ccT p.P811P EPS15L1_ENST00000535753.2_3'UTR|EPS15L1_ENST00000594975.1_3'UTR|EPS15L1_ENST00000248070.6_Silent_p.P811P NM_001258374.1 NP_001245303.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 811 15 X 3 AA repeats of D-P-F.|Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 GGAATGGATCGGGGGCCTCGG 0.498000 7 25 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137269 40137269 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:40137269C>T ENST00000278198.2 - 2 2537 c.574G>A c.(574-576)Gcc>Acc p.A192T LRRC4C_ENST00000530763.1_Missense_Mutation_p.A192T|LRRC4C_ENST00000527150.1_Missense_Mutation_p.A192T|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A192T Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 192 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) CCTTCAAAGGCACCTTCTGAG 0.443000 4 47 0 0 1 0 0 TMEM161A 54929 broad.mit.edu 37 19 19231575 19231575 + Splice_Site SNP C C A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:19231575C>A ENST00000450333.2 - 9 913 c.877_splice c.e9+1 p.L292_splice TMEM161A_ENST00000587583.2_Splice_Site_p.L370_splice|TMEM161A_ENST00000162044.9_Splice_Site_p.L395_splice NM_001256766.1 NP_001243695.1 Q9NX61 T161A_HUMAN transmembrane protein 161A 395 cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid integral to membrane breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011) GCATCTCACCCAGCGTCTTGA 0.627000 20 57 3.5997e-14 3.67718e-14 1 1 0 ANAPC1 64682 broad.mit.edu 37 2 112566715 112566715 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:112566715G>A ENST00000341068.3 - 29 4413 c.3641C>T c.(3640-3642)gCt>gTt p.A1214V NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 1214 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 TAGTTTTGCAGCAGAAACACC 0.423000 10 32 0 0 1 0 0 SPERT 220082 broad.mit.edu 37 13 46287544 46287544 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr13:46287544C>T ENST00000378966.3 + 2 692 c.276C>T c.(274-276)ttC>ttT p.F92F SPERT_ENST00000310521.1_Silent_p.F128F Q8NA61 SPERT_HUMAN spermatid associated 128 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) ACGAGATGTTCGTGTTCCAGG 0.632000 7 86 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43243801 43243801 + Missense_Mutation SNP C C T rs148232674 byFrequency TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr18:43243801C>T ENST00000255226.6 + 11 2219 c.1403C>T c.(1402-1404)tCg>tTg p.S468L SLC14A2_ENST00000586448.1_Missense_Mutation_p.S468L NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 468 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GAGGAGGGCTCGGAGGCTGTG 0.602000 6 39 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158323701 158323701 + Translation_Start_Site SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:158323701G>A ENST00000444681.2 + 0 216 CD1E_ENST00000368165.3_De_novo_Start_OutOfFrame|CD1E_ENST00000434258.1_Intron|CD1E_ENST00000368167.3_De_novo_Start_OutOfFrame|CD1E_ENST00000368166.3_De_novo_Start_OutOfFrame|CD1E_ENST00000452291.2_De_novo_Start_OutOfFrame|CD1E_ENST00000368163.3_De_novo_Start_OutOfFrame NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) AGTGCAAGAGGGTGTGGAGAG 0.522000 9 9 0 0 1 0 0 GPR115 221393 broad.mit.edu 37 6 47682870 47682870 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:47682870C>T ENST00000283303.2 + 6 2147 c.1889C>T c.(1888-1890)tCc>tTc p.S630F GPR115_ENST00000371220.1_Missense_Mutation_p.S687F|GPR115_ENST00000327753.3_Missense_Mutation_p.S630F NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 630 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GAAGGCACTTCCTTGACGTTC 0.443000 31 71 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19488831 19488831 + Silent SNP T T A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:19488831T>A ENST00000396229.2 + 13 2909 c.2160T>A c.(2158-2160)tcT>tcA p.S720S TMC5_ENST00000381414.4_Silent_p.S720S|TMC5_ENST00000561503.1_Silent_p.S361S|TMC5_ENST00000542583.2_Silent_p.S720S|TMC5_ENST00000219821.5_Silent_p.S474S|TMC5_ENST00000541464.1_Silent_p.S668S|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000564959.1_Silent_p.S403S NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 720 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TGGCCCTGTCTGGTGAAGAGG 0.418000 19 76 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212295722 212295722 + Missense_Mutation SNP A A G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:212295722A>G ENST00000342788.4 - 21 2901 c.2591T>C c.(2590-2592)cTa>cCa p.L864P ERBB4_ENST00000436443.1_Missense_Mutation_p.L864P|ERBB4_ENST00000402597.1_Missense_Mutation_p.L854P NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 864 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GAGTCTGGCTAGCCCAAAATC 0.403000 TSP Lung(8;0.080) 38 74 0 0 1 0 0 FTCD 10841 broad.mit.edu 37 21 47558458 47558458 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr21:47558458G>A ENST00000355384.2 - 11 1406 c.1363C>T c.(1363-1365)Ccg>Tcg p.P455S FTCD_ENST00000397743.1_Missense_Mutation_p.P455S|FTCD_ENST00000397746.3_Silent_p.A469A|FTCD_ENST00000359679.2_Silent_p.A469A|FTCD_ENST00000397748.1_Silent_p.A469A|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000291670.5_Silent_p.A469A O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 0 Cyclodeaminase/cyclohydrolase (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) TCCCACACCGGGCCAGTTCCT 0.721000 4 12 0 0 1 0 0 ALOX15B 247 broad.mit.edu 37 17 7948580 7948580 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:7948580C>T ENST00000380183.4 + 7 1013 c.874C>T c.(874-876)Cac>Tac p.H292Y ALOX15B_ENST00000572022.1_Missense_Mutation_p.H292Y|ALOX15B_ENST00000573359.1_Missense_Mutation_p.H292Y|ALOX15B_ENST00000380173.2_Missense_Mutation_p.H292Y NM_001141.2 NP_001132.2 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 292 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 CTTGGTGGATCACGGCATCCT 0.557000 28 88 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58564169 58564169 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:58564169G>A ENST00000317147.5 - 43 6592 c.6260C>T c.(6259-6261)cCt>cTt p.P2087L CNOT1_ENST00000245138.4_Missense_Mutation_p.P938L|CNOT1_ENST00000569240.1_Missense_Mutation_p.P2082L NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 2087 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GATTTGCATAGGTTTGGTGAG 0.328000 4 55 0 0 1 0 0 TGIF2 60436 broad.mit.edu 37 20 35207254 35207254 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr20:35207254C>T ENST00000373874.2 + 2 276 c.77C>T c.(76-78)cCc>cTc p.P26L RP5-977B1.11_ENST00000561134.1_RNA|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.P26L|TGIF2_ENST00000373872.4_Missense_Mutation_p.P26L NM_001199514.1|NM_001199515.1 NP_001186443.1|NP_001186444.1 Q9GZN2 TGIF2_HUMAN TGFB-induced factor homeobox 2 26 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) GGGAACCTGCCCAAGGAGTCG 0.612000 24 76 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 13357361 13357361 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:13357361G>A ENST00000276297.4 - 2 629 c.220C>T c.(220-222)Cct>Tct p.P74S DLC1_ENST00000316609.5_Missense_Mutation_p.P74S|DLC1_ENST00000511869.1_Missense_Mutation_p.P74S NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 74 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GGCCTCCCAGGAAAATCTCTC 0.458000 62 277 0 0 1 0 0 ZNF578 147660 broad.mit.edu 37 19 53015026 53015026 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:53015026C>T ENST00000421239.2 + 6 1636 c.1392C>T c.(1390-1392)ttC>ttT p.F464F CTD-3099C6.5_ENST00000599143.1_RNA NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) ACAGAGTTTTCAGTCAGAAAT 0.393000 15 30 0 0 1 0 0 RPUSD2 27079 broad.mit.edu 37 15 40866236 40866236 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:40866236C>T ENST00000315616.7 + 3 1452 c.1414C>T c.(1414-1416)Cct>Tct p.P472S RPUSD2_ENST00000559271.1_Missense_Mutation_p.P411S NM_152260.1 NP_689473.1 Q8IZ73 RUSD2_HUMAN RNA pseudouridylate synthase domain containing 2 472 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding kidney(4)|lung(4)|skin(3) 11 all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786) TGAGGCAGCCCCTCAGGAGTT 0.557000 9 65 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41845064 41845064 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:41845064G>A ENST00000396930.3 - 4 1161 c.618C>T c.(616-618)atC>atT p.I206I KAT6A_ENST00000406337.1_Silent_p.I206I|KAT6A_ENST00000485568.1_Silent_p.I206I|KAT6A_ENST00000265713.2_Silent_p.I206I NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 206 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TACAGATGGGGATTGGTTCAG 0.373000 110 186 0 0 1 0 0 C6orf165 154313 broad.mit.edu 37 6 88123561 88123561 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:88123561C>T ENST00000507897.1 + 4 309 c.226C>T c.(226-228)Cca>Tca p.P76S C6ORF165_ENST00000369562.4_Missense_Mutation_p.P76S Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 76 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TACTAAAAATCCATCCCTGGA 0.313000 11 27 0 0 1 0 0 C7orf66 154907 broad.mit.edu 37 7 108524201 108524201 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:108524201G>A ENST00000379007.2 - 2 265 c.211C>T c.(211-213)Cgt>Tgt p.R71C NM_001024607.1 NP_001019778.1 A4D0T2 CG066_HUMAN chromosome 7 open reading frame 66 71 integral to membrane breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 15 ATCATGTGACGATATTGAGCT 0.418000 16 48 0 0 1 0 0 DGCR14 8220 broad.mit.edu 37 22 19127496 19127496 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr22:19127496G>A ENST00000252137.6 - 4 485 c.442C>T c.(442-444)Cta>Tta p.L148L NM_022719.2 NP_073210.1 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region gene 14 148 nervous system development catalytic step 2 spliceosome breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) AAGACATCTAGGCTGGGCAGC 0.607000 32 97 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136594188 136594188 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:136594188G>A ENST00000264162.2 - 1 562 c.552C>T c.(550-552)caC>caT p.H184H NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 184 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) TTGATTCCTGGTGGGGAAGCT 0.512000 17 52 0 0 1 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3661039 3661039 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:3661039G>A ENST00000335312.3 - 5 481 c.393C>T c.(391-393)ttC>ttT p.F131F PIP5K1C_ENST00000589578.1_Silent_p.F131F|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Silent_p.F131F|PIP5K1C_ENST00000537021.1_Silent_p.F131F NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 131 PIPK. axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) TCTTGAAGCGGAAGTCCTGGA 0.597000 36 163 0 0 1 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43552888 43552888 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:43552888G>A ENST00000430334.3 - 4 634 c.501C>T c.(499-501)ttC>ttT p.F167F PLEKHM1_ENST00000421073.2_Silent_p.F78F NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 167 RUN. intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) GGCCCTGCAGGAAGCTAAGGA 0.607000 11 56 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19653754 19653754 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:19653754G>A ENST00000586018.1 + 6 1070 c.968G>A c.(967-969)gGg>gAg p.G323E CILP2_ENST00000291495.4_Missense_Mutation_p.G317E Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 317 Ig-like C2-type. proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 AAAGCCTCCGGGACCCCCATG 0.562000 25 83 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24251629 24251629 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:24251629G>A ENST00000538205.1 + 5 642 c.95G>A c.(94-96)gGa>gAa p.G32E ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.G111E|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.G32E|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 111 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) TCACCCAGAGGAGAGGAAATT 0.453000 12 60 0 0 1 0 0 SV2C 22987 broad.mit.edu 37 5 75597230 75597230 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:75597230G>A ENST00000502798.2 + 12 2302 c.1860G>A c.(1858-1860)tcG>tcA p.S620S SV2C_ENST00000322285.7_Silent_p.S620S|RP11-466P24.6_ENST00000502589.1_RNA NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 620 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TGGTGCTTTCGGGGATCAGCT 0.488000 27 103 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77317424 77317424 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:77317424C>T ENST00000388914.3 - 3 438 c.286G>A c.(286-288)Gaa>Aaa p.E96K CCDC158_ENST00000434846.2_Missense_Mutation_p.E96K|CCDC158_ENST00000504868.1_5'UTR NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 96 p.E96K(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 CAACTCACTTCATTTAGTCTT 0.393000 9 22 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98205973 98205973 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:98205973G>A ENST00000370192.3 - 4 396 c.296C>T c.(295-297)tCa>tTa p.S99L DPYD_ENST00000306031.5_Missense_Mutation_p.S99L|DPYD_ENST00000423006.2_Missense_Mutation_p.S62L NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 99 4Fe-4S ferredoxin-type 1. 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TGTGATGAATGATTTAATATC 0.328000 32 75 0 0 1 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145474442 145474442 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:145474442C>T ENST00000323397.4 + 4 2407 c.1114C>T c.(1114-1116)Cct>Tct p.P372S NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 372 Pro-rich. endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GTTGACCCTCCCTCCAGCCGG 0.692000 4 31 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50713684 50713684 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:50713684C>T ENST00000440075.2 + 2 109 c.62C>T c.(61-63)cCc>cTc p.P21L MYH14_ENST00000601313.1_Missense_Mutation_p.P21L|MYH14_ENST00000425460.1_Missense_Mutation_p.P21L|MYH14_ENST00000596571.1_Missense_Mutation_p.P21L|MYH14_ENST00000262269.8_Missense_Mutation_p.P21L|MYH14_ENST00000376970.2_Missense_Mutation_p.P21L|MYH14_ENST00000598205.1_Missense_Mutation_p.P21L Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 21 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GGCCCAGTGCCCGAGGCGGCC 0.756000 5 8 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101834396 101834396 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:101834396C>T ENST00000263468.8 + 6 2900 c.2630C>T c.(2629-2631)tCa>tTa p.S877L KIAA1377_ENST00000537689.1_Missense_Mutation_p.S678L NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 877 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) TCACTGCCATCATATTGTTCT 0.418000 11 30 0 0 1 0 0 CCER1 196477 broad.mit.edu 37 12 91348089 91348089 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:91348089C>T ENST00000358859.2 - 1 864 c.431G>A c.(430-432)gGc>gAc p.G144D CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 p.G144D(1) GCCTCTGCGGCCCCAGCGCTT 0.697000 7 30 0 0 1 0 0 HSD17B13 345275 broad.mit.edu 37 4 88226426 88226426 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:88226426G>A ENST00000328546.4 - 7 911 c.847C>T c.(847-849)Cgt>Tgt p.R283C HSD17B13_ENST00000302219.6_Missense_Mutation_p.R247C NM_178135.3 NP_835236.2 Q7Z5P4 DHB13_HUMAN hydroxysteroid (17-beta) dehydrogenase 13 283 extracellular region binding|oxidoreductase activity endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 8 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.000308) TTCTGCATACGATTTAAAATC 0.323000 7 19 0 0 1 0 0 SERPINC1 462 broad.mit.edu 37 1 173886390 173886390 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:173886390G>A ENST00000367698.3 - 1 126 c.8C>T c.(7-9)tCc>tTc p.S3F SERPINC1_ENST00000494024.1_5'UTR NM_000488.3 NP_000479.1 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C (antithrombin), member 1 3 blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1) 25 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) TATCACATTGGAATACATGGC 0.502000 8 25 0 0 1 0 0 AZU1 566 broad.mit.edu 37 19 831774 831774 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:831774C>T ENST00000233997.2 + 5 674 c.653C>T c.(652-654)tCc>tTc p.S218F NM_001700.3 NP_001691.1 P20160 CAP7_HUMAN azurocidin 1 218 Peptidase S1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability azurophil granule|extracellular region heparin binding|serine-type endopeptidase activity|toxin binding NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCTCCTTTTCCCTGGGGCCC 0.711000 12 41 0 0 1 0 0 SUMO4 387082 broad.mit.edu 37 6 149721676 149721676 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:149721676C>T ENST00000326669.4 + 1 182 c.149C>T c.(148-150)cCa>cTa p.P50L TAB2_ENST00000536230.1_Intron|TAB2_ENST00000286332.5_Intron|TAB2_ENST00000538427.1_Intron|TAB2_ENST00000367456.1_Intron NM_001002255.1 NP_001002255.1 Q6EEV6 SUMO4_HUMAN small ubiquitin-like modifier 4 50 Ubiquitin-like. breast(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;7.91e-12)|GBM - Glioblastoma multiforme(68;0.0282) TATTGTGAACCACGGGGATTG 0.438000 33 92 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193049023 193049023 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:193049023C>T ENST00000342358.4 - 12 1467 c.1350G>A c.(1348-1350)ctG>ctA p.L450L NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 450 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TGCCTATGGTCAGGGCAGCTG 0.493000 12 49 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56589829 56589829 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:56589829G>A ENST00000323456.5 - 4 256 c.132C>T c.(130-132)ttC>ttT p.F44F MTMR4_ENST00000579925.1_Silent_p.F44F NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 44 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity p.F44F(1) breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCCGGCCCAGGAACTCTACTC 0.522000 16 56 0 0 1 0 0 SLC13A4 26266 broad.mit.edu 37 7 135376073 135376073 + Splice_Site SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:135376073C>T ENST00000354042.4 - 13 2008 c.1318_splice c.e13-1 p.G440_splice C7orf73_ENST00000422968.1_Intron NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 440 integral to plasma membrane sodium:sulfate symporter activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 CTGGTTCTCTCCTGGATTAGA 0.512000 13 44 0 0 1 0 0 ZNF114 163071 broad.mit.edu 37 19 48790109 48790109 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:48790109C>T ENST00000595607.1 + 6 1722 c.1228C>T c.(1228-1230)Cac>Tac p.H410Y ZNF114_ENST00000315849.1_Missense_Mutation_p.H410Y|ZNF114_ENST00000597695.1_Missense_Mutation_p.H376Y|ZNF114_ENST00000600687.1_Missense_Mutation_p.H410Y Q8NC26 ZN114_HUMAN zinc finger protein 114 410 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11) 18 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) TCTTAAGACTCACAAAGATGA 0.383000 18 40 0 0 1 0 0 SULT1C3 442038 broad.mit.edu 37 2 108872095 108872095 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:108872095C>T ENST00000376700.1 + 4 467 c.467C>T c.(466-468)tCc>tTc p.S156F SULT1C3_ENST00000329106.2_Missense_Mutation_p.S156F Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 156 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 AGGATGGCTTCCTTTATGCCT 0.443000 27 56 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140249048 140249048 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:140249048C>T ENST00000398640.2 + 1 360 c.360C>T c.(358-360)aaC>aaT p.N120N PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCATGTGAACGTGGAGGTGA 0.572000 62 167 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14559340 14559340 + RNA SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:14559340G>A ENST00000273083.3 - 0 1160 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 TGGCCGGGCCGGGGGCTGTGG 0.637000 4 9 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131521315 131521315 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:131521315C>T ENST00000423981.1 + 2 1780 c.1670C>T c.(1669-1671)gCg>gTg p.A557V AMER3_ENST00000321420.4_Missense_Mutation_p.A557V NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 GCAGGGGGGGCGACAGTTTGC 0.701000 4 20 0 0 1 0 0 ENPP4 22875 broad.mit.edu 37 6 46107841 46107841 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:46107841C>T ENST00000321037.4 + 2 751 c.521C>T c.(520-522)tCg>tTg p.S174L NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 174 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 CTAAACAATTCGAACCCACCA 0.393000 18 66 0 0 1 0 0 PTBP3 9991 broad.mit.edu 37 9 114994483 114994483 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:114994483G>A ENST00000334318.6 - 10 1195 c.1009C>T c.(1009-1011)Cct>Tct p.P337S PTBP3_ENST00000458258.1_Missense_Mutation_p.P340S|PTBP3_ENST00000374257.1_Missense_Mutation_p.P306S|PTBP3_ENST00000374255.2_Missense_Mutation_p.P334S|PTBP3_ENST00000343327.2_Missense_Mutation_p.P239S NM_001163790.2|NM_005156.6 NP_001157262.1|NP_005147.3 O95758 ROD1_HUMAN polypyrimidine tract binding protein 3 334 anatomical structure morphogenesis|mRNA processing nucleus nucleotide binding|RNA binding ATTGTGAGAGGACCAAGAGCT 0.408000 10 24 0 0 1 0 0 BAP1 8314 broad.mit.edu 37 3 52442571 52442571 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:52442571G>A ENST00000460680.1 - 4 645 c.174C>T c.(172-174)tcC>tcT p.S58S BAP1_ENST00000296288.5_Silent_p.S58S NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 58 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.S58fs*8(1) NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) CCTTTCGCCGGGACCGGCGCT 0.502000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 4 13 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107869518 107869518 + Missense_Mutation SNP A A T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chrX:107869518A>T ENST00000328300.6 + 36 3429 c.3185A>T c.(3184-3186)aAa>aTa p.K1062I COL4A5_ENST00000361603.2_Missense_Mutation_p.K1062I NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1062 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CCTGGACAGAAAGGCGACAAA 0.483000 Alport syndrome with Diffuse Leiomyomatosis 25 37 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54919329 54919329 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:54919329C>T ENST00000474759.1 + 22 1982 c.1934C>T c.(1933-1935)cCc>cTc p.P645L CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.P551L|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.P645L|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.P645L NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 645 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TTAGAACATCCCGATGTGTCC 0.483000 24 82 0 0 1 0 0 PARN 5073 broad.mit.edu 37 16 14645906 14645906 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:14645906G>A ENST00000437198.2 - 21 1593 c.1452C>T c.(1450-1452)tcC>tcT p.S484S PARN_ENST00000420015.2_Silent_p.S438S|PARN_ENST00000539279.1_Silent_p.S309S|PARN_ENST00000341484.7_Silent_p.S423S NM_001134477.2|NM_002582.3 NP_001127949.1|NP_002573.1 O95453 PARN_HUMAN poly(A)-specific ribonuclease 484 female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1) 21 GCTGGCTAAGGGAAACAAATG 0.398000 21 143 0 0 1 0 0 TRIM21 6737 broad.mit.edu 37 11 4409738 4409738 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:4409738G>A ENST00000254436.7 - 4 639 c.527C>T c.(526-528)tCt>tTt p.S176F TRIM21_ENST00000543625.1_Missense_Mutation_p.S176F NM_003141.3 NP_003132.2 P19474 RO52_HUMAN tripartite motif containing 21 176 cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3) 16 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) GTGAATCCTAGATTTCTGTGT 0.453000 58 218 0 0 1 0 0 HTR3C 170572 broad.mit.edu 37 3 183776271 183776271 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:183776271C>T ENST00000318351.1 + 6 650 c.616C>T c.(616-618)Cgc>Tgc p.R206C NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 206 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) AGACACGTCTCGCAAAGTCAT 0.547000 12 31 0 0 1 0 0 C22orf23 84645 broad.mit.edu 37 22 38340481 38340481 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr22:38340481C>T ENST00000249079.2 - 6 781 c.525G>A c.(523-525)atG>atA p.M175I C22orf23_ENST00000403026.1_Missense_Mutation_p.M175I|C22orf23_ENST00000403305.1_Missense_Mutation_p.M175I Q9BZE7 EVG1_HUMAN chromosome 22 open reading frame 23 175 endometrium(3)|kidney(2)|large_intestine(7) 12 Melanoma(58;0.045) CCAGGGCCTCCATGTCAGCCA 0.572000 16 27 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40947499 40947499 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:40947499G>A ENST00000246914.5 + 15 3003 c.2982G>A c.(2980-2982)cgG>cgA p.R994R NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 994 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CTCCTGCTCGGCCCCTCCCAG 0.582000 34 108 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55932118 55932118 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:55932118C>T ENST00000244728.5 - 23 2499 c.2102G>A c.(2101-2103)gGa>gAa p.G701E COL21A1_ENST00000370819.1_Missense_Mutation_p.G698E|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G101E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G701E NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 701 Collagen-like 4. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) ACCTTGATTTCCTTTGTCCCC 0.299000 7 33 0 0 1 0 0 ZNF274 10782 broad.mit.edu 37 19 58724359 58724359 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:58724359C>T ENST00000326804.4 + 9 2268 c.1809C>T c.(1807-1809)tcC>tcT p.S603S ZNF274_ENST00000424679.2_Silent_p.S498S|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.S571S NM_133502.1 NP_598009.1 Q96GC6 ZN274_HUMAN zinc finger protein 274 604 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) GCCAGAGCTCCCACCTCATCA 0.562000 20 65 0 0 1 0 0 OR10J5 127385 broad.mit.edu 37 1 159505183 159505183 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:159505183C>T ENST00000334857.2 - 1 659 c.615G>A c.(613-615)gtG>gtA p.V205V NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) GCACAAAAATCACAAATGAAC 0.398000 10 49 0 0 1 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68028917 68028917 + Missense_Mutation SNP C C A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:68028917C>A ENST00000329153.5 + 7 701 c.569C>A c.(568-570)tCt>tAt p.S190Y NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 190 cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) GAGCAGGATTCTGTCCCTTCA 0.592000 3 13 0.150653 0.151051 1 1 0 IGHV3-66 28412 broad.mit.edu 37 14 107131453 107131453 + RNA SNP A A G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:107131453A>G ENST00000390632.2 - 0 107 AATAGCAACAAGGAAAACCCA 0.473000 6 97 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85436596 85436596 + Missense_Mutation SNP G G A rs115359501 by1000genomes TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:85436596G>A ENST00000359152.5 - 1 2475 c.2476C>T c.(2476-2478)Cct>Tct p.P826S SYTL2_ENST00000354566.3_Missense_Mutation_p.P302S|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P302S|SYTL2_ENST00000528231.1_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 331 C2 2. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) ACTGGAAAAGGAGCTAGTATT 0.418000 26 82 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94109937 94109937 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:94109937G>A ENST00000553484.1 + 36 6275 c.6121G>A c.(6121-6123)Gat>Aat p.D2041N UNC79_ENST00000256339.4_Missense_Mutation_p.D1842N|UNC79_ENST00000393151.2_Missense_Mutation_p.D2019N|UNC79_ENST00000555664.1_Missense_Mutation_p.D1980N Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2019 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TGAAGAATACGATGAAGAGAC 0.468000 20 49 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24431891 24431891 + Splice_Site SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr22:24431891G>A ENST00000398319.2 + 2 311 c.e2-1 CABIN1_ENST00000263119.5_Splice_Site|CABIN1_ENST00000405822.2_Splice_Site NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TTCCTTTCTAGGAGAGTTGTG 0.507000 5 34 0 0 1 0 0 DMWD 1762 broad.mit.edu 37 19 46289232 46289232 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:46289232G>A ENST00000270223.6 - 3 1567 c.1522C>T c.(1522-1524)Ccg>Tcg p.P508S DMWD_ENST00000377735.3_Missense_Mutation_p.P508S NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 508 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) GCCACACCCGGGCCGCCCGCC 0.726000 14 22 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87755799 87755799 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:87755799C>T ENST00000320005.5 - 1 104 c.57G>A c.(55-57)gaG>gaA p.E19E RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 19 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 TTTGTTCATTCTCATTGTTCT 0.433000 35 48 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92442873 92442873 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:92442873C>T ENST00000370389.2 + 6 1597 c.673C>T c.(673-675)Cct>Tct p.P225S BRDT_ENST00000402388.1_Missense_Mutation_p.P298S|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000394530.3_Missense_Mutation_p.P252S|BRDT_ENST00000362005.3_Missense_Mutation_p.P298S|BRDT_ENST00000399546.2_Missense_Mutation_p.P298S NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) CTTTTATAATCCTGTTGACGT 0.353000 14 59 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70357624 70357624 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chrX:70357624C>T ENST00000333646.6 + 41 6083 c.5884C>T c.(5884-5886)Cct>Tct p.P1962S MED12_ENST00000374102.1_Missense_Mutation_p.P1958S|MED12_ENST00000374080.3_Missense_Mutation_p.P1959S|MED12_ENST00000478889.1_3'UTR NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1959 Gln-rich.|Interaction with CTNNB1 and GLI3. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) ACACACAGGCCCTGCAGGTAC 0.562000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 14 24 0 0 1 0 0 RASSF4 83937 broad.mit.edu 37 10 45487419 45487419 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr10:45487419G>A ENST00000334940.6 + 10 1035 c.901G>A c.(901-903)Gaa>Aaa p.E301K RASSF4_ENST00000340258.4_Missense_Mutation_p.E292K|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000374417.2_3'UTR Q9H2L5 RASF4_HUMAN Ras association (RalGDS/AF-6) domain family member 4 292 SARAH. cell cycle|signal transduction protein binding NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 AAAAGAAGAGGAAGAAAGAGA 0.398000 7 26 0 0 1 0 0 STRIP2 57464 broad.mit.edu 37 7 129103951 129103951 + Missense_Mutation SNP A A C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:129103951A>C ENST00000249344.2 + 15 1658 c.1618A>C c.(1618-1620)Atc>Ctc p.I540L STRIP2_ENST00000435494.2_Missense_Mutation_p.I540L NM_020704.2 NP_065755.1 striatin interacting protein 2 CTCTATCAATATCCTGGCAGA 0.493000 6 39 0 0 1 0 0 PRPF40B 25766 broad.mit.edu 37 12 50037749 50037749 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:50037749C>T ENST00000261897.1 + 24 2997 c.2446C>T c.(2446-2448)Cct>Tct p.P816S PRPF40B_ENST00000380281.1_Missense_Mutation_p.P829S|PRPF40B_ENST00000548825.2_Missense_Mutation_p.P850S|FMNL3_ENST00000335154.5_3'UTR Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 829 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 GGCAGAGCTCCCTAACCGTTC 0.572000 12 79 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96875217 96875217 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:96875217G>A ENST00000267584.4 + 4 481 c.437G>A c.(436-438)cGa>cAa p.R146Q AK7_ENST00000554313.1_3'UTR NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 146 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) TTTGAAAAGCGAAAGCTATTT 0.468000 14 21 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158262552 158262552 + Missense_Mutation SNP T T A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:158262552T>A ENST00000368170.3 + 4 1056 c.777T>A c.(775-777)gaT>gaA p.D259E NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 259 Ig-like. antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) CTAATGCTGATGGGACATGGT 0.527000 17 58 0 0 1 0 0 MAMDC4 158056 broad.mit.edu 37 9 139749472 139749472 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:139749472G>A ENST00000445819.1 + 10 1157 c.1107G>A c.(1105-1107)cgG>cgA p.R369R MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.R369R Q6UXC1 AEGP_HUMAN MAM domain containing 4 369 MAM 2. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) gcgccccccgggcccccgTCC 0.672000 5 32 0 0 1 0 0 MAN1A2 10905 broad.mit.edu 37 1 118039386 118039386 + Splice_Site SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:118039386C>T ENST00000356554.3 + 10 2021 c.1284_splice c.e10-1 p.A429_splice NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 429 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TTCCTGTAGGCTATAGAAAAA 0.353000 16 65 0 0 1 0 0 PDE10A 10846 broad.mit.edu 37 6 165832185 165832185 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:165832185G>A ENST00000366882.1 - 12 1060 c.906C>T c.(904-906)gaC>gaT p.D302D PDE10A_ENST00000539869.2_Silent_p.D312D|PDE10A_ENST00000354448.4_Silent_p.D302D Q9Y233 PDE10_HUMAN phosphodiesterase 10A 302 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding p.D302E(1) breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TATCAAAAAGGTCTGAATATA 0.388000 17 27 0 0 1 0 0 ATG13 9776 broad.mit.edu 37 11 46671807 46671807 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:46671807G>A ENST00000434074.1 + 6 1087 c.398G>A c.(397-399)aGg>aAg p.R133K ATG13_ENST00000528494.1_Missense_Mutation_p.R133K|ATG13_ENST00000312040.4_Missense_Mutation_p.R133K|ATG13_ENST00000451945.1_Missense_Mutation_p.R133K|ATG13_ENST00000526508.1_Missense_Mutation_p.R133K|ATG13_ENST00000524625.1_Missense_Mutation_p.R133K|ATG13_ENST00000359513.4_Missense_Mutation_p.R133K|ATG13_ENST00000530500.1_Missense_Mutation_p.R54K|ATG13_ENST00000529655.1_Missense_Mutation_p.R133K NM_001205120.1 NP_001192049.1 O75143 ATG13_HUMAN autophagy related 13 133 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 15 GCTATAACTAGGGTGACACCA 0.428000 15 76 0 0 1 0 0 ROCK1 6093 broad.mit.edu 37 18 18625312 18625312 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr18:18625312G>A ENST00000399799.1 - 5 1471 c.531C>T c.(529-531)ttC>ttT p.F177F NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 177 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) CTGCAGTATAGAATCGTGCCC 0.378000 9 30 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47237949 47237949 + Missense_Mutation SNP T T C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:47237949T>C ENST00000300404.2 + 7 951 c.892T>C c.(892-894)Ttt>Ctt p.F298L B4GALNT2_ENST00000504681.1_Missense_Mutation_p.F212L|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.F238L NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 298 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) AGTGGCCAAGTTTCCAGTGAC 0.557000 67 195 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123276927 123276927 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr10:123276927C>T ENST00000358487.5 - 8 1262 c.990G>A c.(988-990)cgG>cgA p.R330R FGFR2_ENST00000357555.5_Silent_p.R241R|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000351936.6_Silent_p.R330R|FGFR2_ENST00000369056.1_Intron|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000346997.2_Silent_p.R330R|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000478859.1_Silent_p.R102R|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000356226.4_Silent_p.R215R|FGFR2_ENST00000457416.2_Intron NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 330 Ig-like C2-type 3. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) AAGTTACATTCCGAATATAGA 0.448000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 14 28 0 0 1 0 0 MARK2 2011 broad.mit.edu 37 11 63666288 63666288 + Nonsense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:63666288C>T ENST00000402010.2 + 6 1036 c.457C>T c.(457-459)Cga>Tga p.R153* MARK2_ENST00000425897.2_Nonsense_Mutation_p.R120*|MARK2_ENST00000513765.2_Nonsense_Mutation_p.R120*|MARK2_ENST00000315032.8_Nonsense_Mutation_p.R153*|MARK2_ENST00000408948.3_Nonsense_Mutation_p.R120*|MARK2_ENST00000502399.3_Nonsense_Mutation_p.R153*|MARK2_ENST00000377810.3_Nonsense_Mutation_p.R120*|MARK2_ENST00000361128.5_Nonsense_Mutation_p.R153*|MARK2_ENST00000377809.4_Nonsense_Mutation_p.R153*|MARK2_ENST00000509502.2_Nonsense_Mutation_p.R120*|MARK2_ENST00000350490.7_Nonsense_Mutation_p.R153*|MARK2_ENST00000508192.1_Nonsense_Mutation_p.R153*|MARK2_ENST00000413835.2_Nonsense_Mutation_p.R153* NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 153 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 AAAAGAGGCTCGAGCCAAATT 0.517000 17 38 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57480641 57480641 + Silent SNP T T G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:57480641T>G ENST00000371236.2 - 12 1622 c.1359A>C c.(1357-1359)gcA>gcC p.A453A DAB1_ENST00000414851.2_Silent_p.A435A|DAB1_ENST00000371234.4_Silent_p.A453A|DAB1_ENST00000371231.1_Silent_p.A486A|DAB1_ENST00000439789.2_Silent_p.A367A|DAB1_ENST00000420954.2_Silent_p.A451A|DAB1_ENST00000485760.1_5'UTR O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 486 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 CTGTATCCTGTGCCACCCCGA 0.577000 26 56 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200948779 200948779 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:200948779G>A ENST00000332129.2 - 29 4321 c.4005C>T c.(4003-4005)ccC>ccT p.P1335P KIF21B_ENST00000461742.2_Silent_p.P1348P|KIF21B_ENST00000360529.5_Silent_p.P1335P|KIF21B_ENST00000422435.2_Silent_p.P1348P NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1348 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CCACGTTGTTGGGGTGGCCCT 0.577000 OREG0014066 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 253 0 0 1 0 0 SARS 6301 broad.mit.edu 37 1 109772144 109772144 + Nonsense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:109772144C>T ENST00000369923.4 + 4 408 c.397C>T c.(397-399)Cga>Tga p.R133* SARS_ENST00000234677.2_Nonsense_Mutation_p.R133* P49591 SYSC_HUMAN seryl-tRNA synthetase 133 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) TGAGAACCTCCGAGAGATTGG 0.527000 44 147 0 0 1 0 0 NARG2 79664 broad.mit.edu 37 15 60741265 60741265 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:60741265G>A ENST00000261520.4 - 10 2135 c.1901C>T c.(1900-1902)cCt>cTt p.P634L NARG2_ENST00000439632.1_Missense_Mutation_p.P497L NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 634 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 TCGTTTGATAGGTTTTTTTAA 0.383000 9 39 0 0 1 0 0 PLD2 5338 broad.mit.edu 37 17 4720287 4720287 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:4720287C>T ENST00000263088.6 + 16 1769 c.1638C>T c.(1636-1638)gtC>gtT p.V546V PLD2_ENST00000572940.1_Silent_p.V546V NM_001243108.1|NM_002663.4 NP_001230037.1|NP_002654.3 O14939 PLD2_HUMAN phospholipase D2 546 Catalytic. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) TTGGGGTGGTCGTCCATGGCC 0.632000 19 62 0 0 1 0 0 NBPF18P 441908 broad.mit.edu 37 1 151993688 151993688 + RNA SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:151993688C>T ENST00000432386.1 + 0 2523 NR_103561.1 GAGAGCTGGCCTGGTTAAGGA 0.483000 10 68 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33005010 33005010 + Splice_Site SNP A A T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:33005010A>T ENST00000280979.4 + 3 745 c.576_splice c.e3+1 p.E192_splice AKAP6_ENST00000557272.1_Splice_Site_p.E192_splice|AKAP6_ENST00000557354.1_Splice_Site_p.E192_splice NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 192 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GAGACAAAAGAGGTGAGTGTT 0.443000 22 67 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921094 24921094 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:24921094C>T ENST00000329468.2 + 1 554 c.80C>T c.(79-81)cCc>cTc p.P27L NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GCCCCCGCTCCCCTGTCCCGG 0.701000 5 22 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60703794 60703794 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:60703794G>A ENST00000005286.4 + 11 2643 c.2490G>A c.(2488-2490)gaG>gaA p.E830E TMEM132A_ENST00000453848.2_Silent_p.E829E NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 829 Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Glu-rich. endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 Gggaggaggaggaggaagagg 0.627000 29 84 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189923166 189923166 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:189923166C>T ENST00000374866.3 - 33 2492 c.2218G>A c.(2218-2220)Gat>Aat p.D740N NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 740 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TTTGGGCCATCAGGACCATGT 0.433000 15 40 0 0 1 0 0 USP3 9960 broad.mit.edu 37 15 63855104 63855104 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:63855104G>A ENST00000268049.7 + 9 916 c.592G>A c.(592-594)Gaa>Aaa p.E198K USP3_ENST00000536001.1_Missense_Mutation_p.R154K|USP3_ENST00000559711.1_Missense_Mutation_p.E131K|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000539772.1_5'UTR|USP3_ENST00000380324.3_Missense_Mutation_p.E220K|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.E203K|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.E176K Q9Y6I4 UBP3_HUMAN ubiquitin specific peptidase 3 220 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(3)|large_intestine(7)|lung(4) 14 GBM - Glioblastoma multiforme(80;0.0187) GTCTTTGGTAGAAGAGTTTAG 0.418000 25 101 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154542962 154542962 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:154542962G>A ENST00000409663.3 + 28 3869 c.3817G>A c.(3817-3819)Gaa>Aaa p.E1273K KIAA0922_ENST00000440693.1_Missense_Mutation_p.E1190K|KIAA0922_ENST00000409959.3_Missense_Mutation_p.E1274K NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 1273 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) AGCAGATGCCGAAATTGCAAG 0.448000 14 33 0 0 1 0 0 SARS 6301 broad.mit.edu 37 1 109772143 109772143 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:109772143C>T ENST00000369923.4 + 4 407 c.396C>T c.(394-396)ctC>ctT p.L132L SARS_ENST00000234677.2_Silent_p.L132L P49591 SYSC_HUMAN seryl-tRNA synthetase 132 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) TTGAGAACCTCCGAGAGATTG 0.527000 43 146 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104136511 104136511 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr10:104136511C>T ENST00000369983.3 + 32 4499 c.4239C>T c.(4237-4239)ctC>ctT p.L1413L NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 1413 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) ACTTTGAGCTCTGCGTCAAGA 0.547000 20 31 0 0 1 0 0 SMU1 55234 broad.mit.edu 37 9 33048118 33048118 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:33048118C>T ENST00000397149.3 - 11 1479 c.1429G>A c.(1429-1431)Gag>Aag p.E477K SMU1_ENST00000536631.1_Missense_Mutation_p.E316K NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 477 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) AAAGTTCTCTCCAGTTTGCCA 0.443000 8 31 0 0 1 0 0 ZNF23 7571 broad.mit.edu 37 16 71482856 71482856 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:71482856G>A ENST00000393539.2 - 6 1885 c.1072C>T c.(1072-1074)Cac>Tac p.H358Y AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000497160.1_3'UTR|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000357254.4_Missense_Mutation_p.H358Y|ZNF23_ENST00000564528.1_Missense_Mutation_p.H300Y|ZNF23_ENST00000428724.2_Missense_Mutation_p.H300Y|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.H358Y|ZNF23_ENST00000358700.2_3'UTR NM_145911.1 NP_666016.1 P17027 ZNF23_HUMAN zinc finger protein 23 358 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1) 29 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) TCTCCTGTGTGGATGCTCTGA 0.428000 15 22 0 0 1 0 0 CALR 811 broad.mit.edu 37 19 13054702 13054702 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:13054702C>T ENST00000316448.5 + 9 1302 c.1229C>T c.(1228-1230)cCc>cTc p.P410L NM_004343.3 NP_004334.1 P27797 CALR_HUMAN calreticulin 410 C-domain. cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(1) 10 Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) gaagatgTCCCCGGCCAGGCC 0.592000 4 4 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218712963 218712963 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:218712963G>A ENST00000171887.4 - 17 2354 c.1902C>T c.(1900-1902)gtC>gtT p.V634V TNS1_ENST00000419504.1_Silent_p.V634V|TNS1_ENST00000430930.1_Silent_p.V634V NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 634 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TTCCCCCTCGGACCGGAGCTG 0.647000 15 46 0 0 1 0 0 FOXN1 8456 broad.mit.edu 37 17 26851965 26851965 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:26851965G>A ENST00000226247.2 + 2 597 c.568G>A c.(568-570)Gag>Aag p.E190K FOXN1_ENST00000579795.1_Missense_Mutation_p.E190K NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 190 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) CCCCAGCCAGGAGCATGGCCC 0.627000 7 28 0 0 1 0 0 ICAM4 3386 broad.mit.edu 37 19 10397744 10397744 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:10397744G>A ENST00000393717.2 + 1 65 c.56G>A c.(55-57)gGa>gAa p.G19E ICAM4_ENST00000380770.3_Missense_Mutation_p.G19E|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_Missense_Mutation_p.G19E NM_022377.3 NP_071772.1 Q14773 ICAM4_HUMAN intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) 19 AAAYPGVGSALGRRTK -> RPPTRELGARWDAGL (in Ref. 1; AAA59538/AAA59537). cell-cell adhesion|regulation of immune response extracellular region|integral to membrane|plasma membrane integrin binding breast(1)|large_intestine(3)|lung(2)|pancreas(1) 7 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) GCCTACCCGGGAGTTGGGAGC 0.677000 5 5 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38266309 38266309 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr13:38266309G>A ENST00000379705.3 - 4 1918 c.1061C>T c.(1060-1062)cCa>cTa p.P354L TRPC4_ENST00000379681.3_Missense_Mutation_p.P354L|TRPC4_ENST00000358477.2_Missense_Mutation_p.P354L|TRPC4_ENST00000355779.2_Missense_Mutation_p.P354L|TRPC4_ENST00000426868.2_Missense_Mutation_p.P354L|TRPC4_ENST00000447043.1_Missense_Mutation_p.P354L|TRPC4_ENST00000379673.2_Missense_Mutation_p.P354L|TRPC4_ENST00000379679.1_Missense_Mutation_p.P181L|TRPC4_ENST00000338947.5_Missense_Mutation_p.P181L Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 354 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CAGTCCAAGTGGGCTTTTGGG 0.458000 14 21 0 0 1 0 0 CCDC87 55231 broad.mit.edu 37 11 66358171 66358171 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:66358171G>A ENST00000333861.3 - 1 2383 c.2316C>T c.(2314-2316)ctC>ctT p.L772L NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 772 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GCTTCCTGTGGAGATGGCTTC 0.507000 47 118 0 0 1 0 0 CHSY3 337876 broad.mit.edu 37 5 129520121 129520121 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:129520121C>T ENST00000305031.4 + 3 1644 c.1286C>T c.(1285-1287)gCc>gTc p.A429V CHSY3_ENST00000507545.1_3'UTR NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 429 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) AGGGAAAGTGCCCTGATGAGC 0.493000 11 41 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18691905 18691905 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:18691905G>A ENST00000251296.1 + 6 1112 c.729G>A c.(727-729)acG>acA p.T243T NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 243 extracellular region p.T243T(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) GACCCTACACGGAGCGCCCCT 0.637000 25 81 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32760504 32760504 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr13:32760504C>T ENST00000380250.3 + 27 3923 c.3427C>T c.(3427-3429)Cgt>Tgt p.R1143C NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1143 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane p.R1143C(2) NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TCCTCTGGATCGTTACAGTGA 0.438000 15 83 0 0 1 0 0 ZNF112 7665 broad.mit.edu 37 19 44831599 44831599 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:44831599G>A ENST00000354340.4 - 4 2762 c.2711C>T c.(2710-2712)tCt>tTt p.S904F ZNF112_ENST00000337401.4_Missense_Mutation_p.S910F|ZNF112_ENST00000536500.1_Missense_Mutation_p.S927F NM_013380.3 NP_037512.3 zinc finger protein 112 AAACAAAACAGAATCTTCATT 0.323000 3 20 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46053572 46053572 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:46053572C>T ENST00000295452.4 - 8 1167 c.1000G>A c.(1000-1002)Gat>Aat p.D334N NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 334 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) ACAAAGAGATCCATCGCAGTC 0.388000 15 44 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55378001 55378001 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:55378001G>A ENST00000326321.3 + 9 1216 c.1183G>A c.(1183-1185)Gag>Aag p.E395K KIR3DL2_ENST00000270442.5_Missense_Mutation_p.E378K|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.E395K NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 395 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) AGACCCTCAGGAGGTGACGTA 0.498000 51 192 0 0 1 0 0 KIAA1430 57587 broad.mit.edu 37 4 186111752 186111752 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:186111752G>A ENST00000458385.2 - 2 718 c.599C>T c.(598-600)tCg>tTg p.S200L KIAA1430_ENST00000514798.1_Missense_Mutation_p.S200L|KIAA1430_ENST00000296775.6_Missense_Mutation_p.S200L NM_020827.1 NP_065878.1 Q9P2B7 K1430_HUMAN KIAA1430 200 Ser-rich. endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1) 11 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165) TGACGGAGACGAATCAGATAG 0.408000 6 11 0 0 1 0 0 ALOX15B 247 broad.mit.edu 37 17 7942715 7942715 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:7942715C>T ENST00000380183.4 + 2 298 c.159C>T c.(157-159)ttC>ttT p.F53F ALOX15B_ENST00000572022.1_Silent_p.F53F|ALOX15B_ENST00000573359.1_Silent_p.F53F|ALOX15B_ENST00000380173.2_Silent_p.F53F NM_001141.2 NP_001132.2 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 53 PLAT. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 AGGAGGACTTCCAGGTGACGC 0.697000 5 16 0 0 1 0 0 SNX13 23161 broad.mit.edu 37 7 17861179 17861179 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:17861179G>A ENST00000409389.1 - 18 2003 c.1831C>T c.(1831-1833)Cgt>Tgt p.R611C SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.R600C Q9Y5W8 SNX13_HUMAN sorting nexin 13 611 PX. cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) CTATAACGACGATAGGTTTTC 0.388000 21 81 0 0 1 0 0 C9orf142 286257 broad.mit.edu 37 9 139887631 139887631 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:139887631C>T ENST00000371620.3 + 4 383 c.357C>T c.(355-357)ccC>ccT p.P119P C9orf142_ENST00000493968.1_3'UTR NM_183241.1 NP_899064.1 Q9BUH6 CI142_HUMAN chromosome 9 open reading frame 142 119 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) AGGCAGCCCCCAGGCTGCGGG 0.657000 8 53 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48605070 48605070 + Splice_Site SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:48605070C>T ENST00000328333.8 - 108 8091 c.e108-1 COL7A1_ENST00000454817.1_Splice_Site NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CAGGCTCCCCCTGGAGAAAAA 0.637000 40 101 0 0 1 0 0 SLAMF1 6504 broad.mit.edu 37 1 160589593 160589593 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:160589593C>T ENST00000302035.6 - 5 1186 c.837G>A c.(835-837)acG>acA p.T279T SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000235739.5_Silent_p.T249T|SLAMF1_ENST00000355199.3_Silent_p.T279T NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 279 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GGGCATAGATCGTAAGGCTTT 0.443000 26 126 0 0 1 0 0 ZNF827 152485 broad.mit.edu 37 4 146823931 146823931 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:146823931G>A ENST00000508784.1 - 2 707 c.480C>T c.(478-480)tcC>tcT p.S160S ZNF827_ENST00000379448.4_Silent_p.S160S|ZNF827_ENST00000513320.1_Intron Q17R98 ZN827_HUMAN zinc finger protein 827 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) GGGCGTGGTGGGAAGGCGGGG 0.547000 15 55 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15733939 15733939 + RNA SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:15733939G>A ENST00000441682.2 + 0 733 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 ATATTACTGCGATCATGGAGC 0.537000 6 27 0 0 1 0 0 ANKRD42 338699 broad.mit.edu 37 11 82921388 82921388 + Missense_Mutation SNP G G T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:82921388G>T ENST00000393389.3 + 4 1309 c.377G>T c.(376-378)gGa>gTa p.G126V ANKRD42_ENST00000526731.1_Missense_Mutation_p.G126V|ANKRD42_ENST00000393392.2_Missense_Mutation_p.G98V|ANKRD42_ENST00000260047.6_Missense_Mutation_p.G126V|ANKRD42_ENST00000528722.1_Missense_Mutation_p.G13V|ANKRD42_ENST00000533342.1_Missense_Mutation_p.G126V|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Missense_Mutation_p.G126V Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 98 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 GATGACCGGGGATGCACTCCT 0.393000 17 74 0.00741294 0.00745878 1 1 0 PHC3 80012 broad.mit.edu 37 3 169840473 169840473 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:169840473G>A ENST00000494943.1 - 9 1880 c.1812C>T c.(1810-1812)gtC>gtT p.V604V PHC3_ENST00000495893.1_Silent_p.V616V|PHC3_ENST00000467570.1_Silent_p.V563V Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 604 Pro-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TATCCATCCGGACACATTCAT 0.438000 15 36 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9091108 9091108 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:9091108G>A ENST00000397910.4 - 1 910 c.707C>T c.(706-708)tCc>tTc p.S236F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 236 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTCAAGGAAGGAAGAATAAAG 0.463000 18 43 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104121097 104121097 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:104121097C>T ENST00000388887.2 + 47 5108 c.4904C>T c.(4903-4905)cCt>cTt p.P1635L NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1635 FAS1 5. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GTTTTTGCACCTTTATCTGCA 0.542000 25 164 0 0 1 0 0 CLDN18 51208 broad.mit.edu 37 3 137717732 137717732 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:137717732G>A ENST00000343735.4 + 1 156 c.22G>A c.(22-24)Ggc>Agc p.G8S NM_001002026.2 NP_001002026.1 P56856 CLD18_HUMAN claudin 18 8 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 6 TGCCTGTCAGGGCTTGGGGTT 0.567000 18 66 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134960073 134960073 + Silent SNP T T C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:134960073T>C ENST00000398015.3 + 13 2800 c.2430T>C c.(2428-2430)taT>taC p.Y810Y EPHB1_ENST00000493838.1_Silent_p.Y371Y NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 810 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 TTTGGAGCTATGGGATCGTCA 0.522000 7 258 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16326976 16326976 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:16326976G>A ENST00000244769.4 - 8 2502 c.1566C>T c.(1564-1566)ttC>ttT p.F522F ATXN1_ENST00000436367.1_Silent_p.F522F NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 522 Self-association. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CGGTGGTGACGAACGTGTGAG 0.657000 41 159 0 0 1 0 0 CDCA8 55143 broad.mit.edu 37 1 38166179 38166179 + Missense_Mutation SNP C C A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:38166179C>A ENST00000373055.1 + 5 682 c.409C>A c.(409-411)Ctt>Att p.L137I CDCA8_ENST00000327331.2_Missense_Mutation_p.L137I NM_001256875.1|NM_018101.3 NP_001243804.1|NP_060571.1 Q53HL2 BOREA_HUMAN cell division cycle associated 8 137 Required for interaction with SENP3. cell division|chromosome organization|mitotic metaphase|mitotic prometaphase chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ACGTAAGAATCTTCAAACTGC 0.403000 11 67 3.07112e-06 3.10382e-06 1 1 0 TTN 7273 broad.mit.edu 37 2 179605281 179605281 + Missense_Mutation SNP T T C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:179605281T>C ENST00000589042.1 - 48 12903 c.12679A>G c.(12679-12681)Acc>Gcc p.T4227A TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T3910A|TTN_ENST00000460472.2_Missense_Mutation_p.T3864A|TTN_ENST00000342175.6_Missense_Mutation_p.T4056A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T3989A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3910 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCCACAGAGGTTAGATAAGAA 0.393000 13 56 0 0 1 0 0 SMPDL3B 27293 broad.mit.edu 37 1 28285022 28285022 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:28285022G>A ENST00000373894.3 + 8 1232 c.1041G>A c.(1039-1041)gcG>gcA p.A347A SMPDL3B_ENST00000549094.1_Silent_p.A299A|RP11-460I13.2_ENST00000448015.1_RNA NM_014474.2 NP_055289.2 Q92485 ASM3B_HUMAN sphingomyelin phosphodiesterase, acid-like 3B 347 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 16 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055) TGAGCCAGGCGAATGCTCAGG 0.622000 18 60 0 0 1 0 0 IGHV3-35 28432 broad.mit.edu 37 14 106845492 106845492 + RNA SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:106845492C>T ENST00000390617.2 - 0 196 CAGCCCCTTTCCTGGAGCCTG 0.547000 54 111 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43674281 43674281 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:43674281C>T ENST00000599812.1 - 6 1348 c.1253G>A c.(1252-1254)gGa>gAa p.G418E PSG5_ENST00000407568.1_Missense_Mutation_p.G147E|PSG5_ENST00000342951.6_Missense_Mutation_p.G325E|PSG5_ENST00000407356.1_Missense_Mutation_p.G325E|PSG5_ENST00000366175.3_Missense_Mutation_p.G325E Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 325 female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) ACGTCCTATTCCTGAAGGAGC 0.438000 27 78 0 0 1 0 0 SDC3 9672 broad.mit.edu 37 1 31347219 31347219 + Missense_Mutation SNP T T A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:31347219T>A ENST00000336798.7 - 2 2405 c.913A>T c.(913-915)Aat>Tat p.N305Y SDC3_ENST00000339394.6_Missense_Mutation_p.N363Y O75056 SDC3_HUMAN syndecan 3 363 integral to membrane cytoskeletal protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) TCGATGGCATTGTCCAGGAGG 0.652000 16 33 0 0 1 0 0 MAMDC4 158056 broad.mit.edu 37 9 139749471 139749471 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:139749471G>A ENST00000445819.1 + 10 1156 c.1106G>A c.(1105-1107)cGg>cAg p.R369Q MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.R369Q Q6UXC1 AEGP_HUMAN MAM domain containing 4 369 MAM 2. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) ggcgccccccgggcccccgTC 0.677000 5 32 0 0 1 0 0 RILPL1 353116 broad.mit.edu 37 12 123983175 123983175 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:123983175C>T ENST00000376874.4 - 4 952 c.717G>A c.(715-717)gaG>gaA p.E239E RILPL1_ENST00000340724.6_Silent_p.E87E NM_178314.3 NP_847884.2 Q5EBL4 RIPL1_HUMAN Rab interacting lysosomal protein-like 1 239 neuroprotection cytosol endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197) GGCTGCCCATCTCCTGCTCCT 0.642000 25 63 0 0 1 0 0 OR8B8 26493 broad.mit.edu 37 11 124310394 124310394 + Missense_Mutation SNP C C G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:124310394C>G ENST00000328064.2 - 1 660 c.588G>C c.(586-588)gaG>gaC p.E196D NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) ACACTACAAGCTCATTCACAT 0.458000 14 61 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74091529 74091529 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr18:74091529G>A ENST00000443185.2 - 4 2858 c.2541C>T c.(2539-2541)tcC>tcT p.S847S ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 847 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) AGCCACTTTTGGACCCCGGCA 0.647000 26 105 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69970275 69970275 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:69970275G>A ENST00000359154.2 + 19 2138 c.2037G>A c.(2035-2037)ctG>ctA p.L679L WWP2_ENST00000542271.1_Silent_p.L563L|WWP2_ENST00000448661.1_Silent_p.L679L|WWP2_ENST00000356003.2_Silent_p.L679L|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_Silent_p.L240L NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 679 HECT. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TGGAGATACTGGGCAAGGTGA 0.582000 21 34 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70841815 70841815 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:70841815C>T ENST00000393567.2 - 86 15184 c.15034G>A c.(15034-15036)Gag>Aag p.E5012K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 5012 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATGATATACTCTCCACCTGCG 0.562000 22 58 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123768288 123768288 + Missense_Mutation SNP A A T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:123768288A>T ENST00000223642.1 - 20 2500 c.2471T>A c.(2470-2472)tTc>tAc p.F824Y C5_ENST00000466280.1_5'UTR NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 824 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) CATTTCCAGGAAGACATCTTT 0.383000 11 38 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136595217 136595217 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:136595217G>A ENST00000371872.4 - 5 1040 c.783C>T c.(781-783)tcC>tcT p.S261S SARDH_ENST00000298628.5_Silent_p.S261S|SARDH_ENST00000439388.1_Silent_p.S261S|SARDH_ENST00000422262.2_Silent_p.S93S|SARDH_ENST00000371867.1_Silent_p.S172S NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 261 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GTGTCTGGATGGAACCATGCT 0.587000 6 52 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215852465 215852465 + Missense_Mutation SNP C C A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:215852465C>A ENST00000272895.7 - 27 4101 c.3882G>T c.(3880-3882)tgG>tgT p.W1294C ABCA12_ENST00000389661.4_Missense_Mutation_p.W976C NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1294 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ATCGCTCCTTCCAATAGGAAG 0.438000 12 18 0.000151284 0.000152624 1 1 0 MAP2K5 5607 broad.mit.edu 37 15 67923225 67923225 + Splice_Site SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:67923225G>A ENST00000178640.5 + 9 1172 c.e9-1 MAP2K5_ENST00000395476.2_Splice_Site|MAP2K5_ENST00000560591.1_Splice_Site|MAP2K5_ENST00000354498.5_Splice_Site NM_145160.2 NP_660143.1 Q13163 MP2K5_HUMAN mitogen-activated protein kinase kinase 5 nerve growth factor receptor signaling pathway ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1) 16 TCTTCCCATAGAGCATATCAT 0.348000 7 15 0 0 1 0 0 LIMK1 3984 broad.mit.edu 37 7 73521427 73521427 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:73521427C>T ENST00000418310.1 + 8 1161 c.1059C>T c.(1057-1059)tcC>tcT p.S353S LIMK1_ENST00000538333.3_Silent_p.S289S|LIMK1_ENST00000336180.2_Silent_p.S323S P53667 LIMK1_HUMAN LIM domain kinase 1 323 Protein kinase. actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) GCTCTGAGTCCCTCCGCGTAG 0.692000 7 13 0 0 1 0 0 REEP4 80346 broad.mit.edu 37 8 21996206 21996206 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:21996206G>A ENST00000334530.5 - 6 888 c.518C>T c.(517-519)cCc>cTc p.P173L REEP4_ENST00000523293.1_Intron|REEP4_ENST00000306306.3_Silent_p.P218P Q9H6H4 REEP4_HUMAN receptor accessory protein 4 0 integral to membrane kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 7 Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993) TGCGGATTAGGGGCTTCTCTC 0.687000 18 138 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103701777 103701777 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr13:103701777C>T ENST00000245312.3 - 5 1377 c.781G>A c.(781-783)Gaa>Aaa p.E261K NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 261 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ATCCCCGTTTCAAAAGCAACC 0.423000 5 32 0 0 1 0 0 KRT77 374454 broad.mit.edu 37 12 53096991 53096991 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:53096991C>T ENST00000341809.3 - 1 256 c.228G>A c.(226-228)ggG>ggA p.G76G KRT77_ENST00000537195.1_5'UTR NM_175078.2 NP_778253.2 Q7Z794 K2C1B_HUMAN keratin 77 76 Head. keratin filament structural molecule activity NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 TGGTGCTCCTCCCCATTAGAT 0.587000 7 27 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84371263 84371263 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:84371263G>A ENST00000428679.2 - 5 1003 c.410C>T c.(409-411)tCt>tTt p.S137F SNAP91_ENST00000439399.2_Missense_Mutation_p.S137F|SNAP91_ENST00000521743.1_Missense_Mutation_p.S137F|SNAP91_ENST00000437520.1_Missense_Mutation_p.S137F|SNAP91_ENST00000369694.2_Missense_Mutation_p.S137F|SNAP91_ENST00000195649.6_Missense_Mutation_p.S137F|SNAP91_ENST00000521485.1_Missense_Mutation_p.S137F|SNAP91_ENST00000520302.1_Missense_Mutation_p.S137F|SNAP91_ENST00000520213.1_Missense_Mutation_p.S137F O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 137 ENTH. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) CTGTCTGTAAGAAAAAGCCTT 0.333000 5 22 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119101163 119101163 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:119101163C>T ENST00000264245.4 + 5 988 c.456C>T c.(454-456)caC>caT p.H152H NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 152 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 TGATTCGACACCTGGCCCATA 0.507000 32 96 0 0 1 0 0 ANKRD22 118932 broad.mit.edu 37 10 90591635 90591635 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr10:90591635G>A ENST00000371930.4 - 2 380 c.170C>T c.(169-171)tCc>tTc p.S57F NM_144590.2 NP_653191.2 Q5VYY1 ANR22_HUMAN ankyrin repeat domain 22 57 NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 Colorectal(252;0.0163) Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05) TAAAAGGAAGGAAACGATTCT 0.433000 41 88 0 0 1 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677766 37677766 + Missense_Mutation SNP A A G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:37677766A>G ENST00000532828.2 - 5 924 c.673T>C c.(673-675)Tat>Cat p.Y225H CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.Y170H|ZNF585B_ENST00000312908.5_5'UTR NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTGAGTTATAAGGGAAACCT 0.388000 17 50 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79933186 79933186 + Missense_Mutation SNP A A G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:79933186A>G ENST00000360280.3 + 41 5252 c.4992A>G c.(4990-4992)atA>atG p.I1664M VPS13A_ENST00000357409.5_Missense_Mutation_p.I1664M|VPS13A_ENST00000376634.4_Missense_Mutation_p.I1664M|VPS13A_ENST00000376636.3_Missense_Mutation_p.I1625M|VPS13A_ENST00000423463.2_3'UTR NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1664 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TGATTACCATAACTTCAGCAC 0.303000 14 31 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113170734 113170734 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:113170734G>A ENST00000401783.2 - 38 7482 c.7146C>T c.(7144-7146)acC>acT p.T2382T SVEP1_ENST00000297826.5_Silent_p.T308T|SVEP1_ENST00000374469.1_Silent_p.T2359T NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2382 Sushi 17. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.T2385T(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GGGGAGGTGGGGTACAAAGAA 0.458000 8 25 0 0 1 0 0 C8orf74 203076 broad.mit.edu 37 8 10555430 10555430 + Missense_Mutation SNP C C A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:10555430C>A ENST00000304519.5 + 3 592 c.563C>A c.(562-564)gCg>gAg p.A188E RP1L1_ENST00000329335.3_Intron NM_001040032.1 NP_001035121.1 Q6P047 CH074_HUMAN chromosome 8 open reading frame 74 188 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 COAD - Colon adenocarcinoma(149;0.0811) CTGAAAGAGGCGCTGCGCCTG 0.692000 3 19 1 1 1 1 0 KIAA1683 80726 broad.mit.edu 37 19 18377320 18377320 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:18377320G>A ENST00000392413.3 - 3 1245 c.1030C>T c.(1030-1032)Cca>Tca p.P344S KIAA1683_ENST00000600328.2_Missense_Mutation_p.P344S|KIAA1683_ENST00000600359.2_Missense_Mutation_p.P298S NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 344 Thr-rich. mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GAGACCACTGGATATGTCTGG 0.552000 14 53 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29933544 29933544 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr13:29933544G>A ENST00000431530.3 + 6 3139 c.3081G>A c.(3079-3081)ggG>ggA p.G1027G NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 1017 Localization to the growing distal tip of microtubules. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TTGCGCAAGGGGAGCTGAAGA 0.637000 4 18 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104149445 104149445 + Silent SNP G G A rs140590853 TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:104149445G>A ENST00000388887.2 + 63 7140 c.6936G>A c.(6934-6936)ggG>ggA p.G2312G RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2312 FAS1 7. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.G2312G(1) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CATGCAGTGGGAACCTGCTGC 0.577000 29 65 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093636 30093636 + RNA SNP T T G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr18:30093636T>G ENST00000567636.1 + 0 2011 NR_003558.1 CAGAGGATAATTCTGCTGTGC 0.458000 11 64 0 0 1 0 0 SNX11 29916 broad.mit.edu 37 17 46198645 46198645 + Silent SNP T T G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:46198645T>G ENST00000393405.2 + 8 942 c.588T>G c.(586-588)ccT>ccG p.P196P SNX11_ENST00000580219.1_Silent_p.P188P|SNX11_ENST00000452859.2_Silent_p.P52P|SNX11_ENST00000439357.2_Silent_p.P135P|SNX11_ENST00000359238.2_Silent_p.P196P|SNX11_ENST00000582104.1_Silent_p.P188P NM_152244.1 NP_689450.1 Q9Y5W9 SNX11_HUMAN sorting nexin 11 196 cell communication|protein transport membrane phosphatidylinositol binding breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 14 CCTCACCGCCTCCCAGTGAAG 0.507000 24 94 0 0 1 0 0 PTGDS 5730 broad.mit.edu 37 9 139874416 139874416 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:139874416C>T ENST00000224167.2 + 4 527 c.452C>T c.(451-453)tCc>tTc p.S151F PTGDS_ENST00000371625.3_Missense_Mutation_p.S117F P41222 PTGDS_HUMAN prostaglandin D2 synthase 21kDa (brain) 117 prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1) 7 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) AGCACCTACTCCGTGTCAGTG 0.637000 36 108 0 0 1 0 0 MAP7 9053 broad.mit.edu 37 6 136709570 136709570 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:136709570C>T ENST00000354570.3 - 5 897 c.487G>A c.(487-489)Gga>Aga p.G163R MAP7_ENST00000454590.1_Missense_Mutation_p.G185R|MAP7_ENST00000432797.2_Missense_Mutation_p.G17R|MAP7_ENST00000438100.2_Missense_Mutation_p.G185R|MAP7_ENST00000544465.1_Missense_Mutation_p.G148R NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 163 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) AGAGAGCCTCCCCACGACCAA 0.483000 49 116 0 0 1 0 0 FKBP15 23307 broad.mit.edu 37 9 115931684 115931684 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:115931684G>A ENST00000238256.3 - 26 3422 c.3305C>T c.(3304-3306)cCc>cTc p.P1102L NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 1102 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 CCCCTCCTCGGGGTCTGAAGT 0.582000 9 76 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139906029 139906029 + Splice_Site SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:139906029G>A ENST00000297183.6 + 26 5064 c.e26+1 ANKHD1_ENST00000544120.1_Splice_Site|ANKHD1-EIF4EBP3_ENST00000532219.1_Splice_Site|ANKHD1_ENST00000360839.2_Splice_Site NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCAGACACGGTAAATTTTTC 0.363000 13 42 0 0 1 0 0 E2F8 79733 broad.mit.edu 37 11 19258860 19258860 + Splice_Site SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:19258860C>T ENST00000527884.1 - 4 684 c.e4+1 E2F8_ENST00000250024.4_Splice_Site|RP11-428C19.4_ENST00000527978.1_RNA NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TGCATACTTACTAAGTTCCTC 0.388000 10 31 0 0 1 0 0 SLC22A14 9389 broad.mit.edu 37 3 38347743 38347743 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:38347743C>T ENST00000273173.4 + 1 317 c.226C>T c.(226-228)Ccc>Tcc p.P76S SLC22A14_ENST00000448498.1_Missense_Mutation_p.P76S NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 76 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) CACCTTTATCCCCAGCATCAT 0.562000 13 68 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 103984697 103984697 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:103984697C>T ENST00000388887.2 + 2 308 c.104C>T c.(103-105)tCt>tTt p.S35F NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 35 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GATAGGAAGTCTCTTCTTACA 0.433000 11 63 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531822 140531822 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:140531822G>A ENST00000231136.1 + 1 1984 c.1984G>A c.(1984-1986)Gac>Aac p.D662N PCDHB6_ENST00000543635.1_Missense_Mutation_p.D526N NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 662 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.D662Y(1) cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCCTGGTGGACGGCTTCTC 0.692000 18 64 0 0 1 0 0 ADAM9 8754 broad.mit.edu 37 8 38874842 38874842 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:38874842C>T ENST00000487273.2 + 6 593 c.515C>T c.(514-516)cCt>cTt p.P172L NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 172 activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) TACAAAGAGCCTCTGAAATGT 0.428000 22 42 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136596793 136596793 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:136596793G>A ENST00000531224.1 - 6 1981 c.1729C>T c.(1729-1731)Cat>Tat p.H577Y BCLAF1_ENST00000353331.4_Missense_Mutation_p.H575Y|BCLAF1_ENST00000392348.2_Missense_Mutation_p.H575Y|BCLAF1_ENST00000530767.1_Missense_Mutation_p.H404Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.H575Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.H577Y NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 577 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TTGACAGAATGGACAAGTGTA 0.398000 12 115 0 0 1 0 0 FMOD 2331 broad.mit.edu 37 1 203317372 203317372 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:203317372C>T ENST00000354955.4 - 2 490 c.27G>A c.(25-27)ctG>ctA p.L9L FMOD_ENST00000464898.1_5'UTR NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 9 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) AGAGCCCTGCCAGCAGCAGGA 0.572000 13 62 0 0 1 0 0 LRG1 116844 broad.mit.edu 37 19 4540018 4540018 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:4540018G>A ENST00000306390.6 - 1 468 c.8C>T c.(7-9)tCt>tTt p.S3F CTB-50L17.14_ENST00000586020.1_Missense_Mutation_p.S3F|LRG1_ENST00000586883.1_5'UTR NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 3 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) TCTGCTCCAAGAGGACATGGT 0.577000 56 291 0 0 1 0 0 C2orf40 84417 broad.mit.edu 37 2 106690397 106690397 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:106690397C>T ENST00000409944.1 + 4 306 c.75C>T c.(73-75)ttC>ttT p.F25F C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000238044.3_Silent_p.F61F Q9H1Z8 AUGN_HUMAN chromosome 2 open reading frame 40 61 extracellular region|transport vesicle lung(7)|urinary_tract(1) 8 CCAAAGAATTCCTTGGCAGCC 0.517000 41 121 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119101164 119101164 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:119101164C>T ENST00000264245.4 + 5 989 c.457C>T c.(457-459)Ctg>Ttg p.L153L NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 153 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GATTCGACACCTGGCCCATAT 0.512000 31 95 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57640051 57640051 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:57640051C>T ENST00000254181.4 + 4 462 c.8C>T c.(7-9)tCt>tTt p.S3F USP29_ENST00000598197.1_Missense_Mutation_p.S3F NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 3 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGGATGATATCTCTAAAGGTA 0.333000 3 20 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108488179 108488179 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:108488179C>T ENST00000408999.3 + 20 3796 c.3719C>T c.(3718-3720)cCt>cTt p.P1240L RGPD4_ENST00000354986.4_Missense_Mutation_p.P1240L NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1240 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AAACCCAATCCTGAAAACACT 0.423000 37 163 0 0 1 0 0 USPL1 10208 broad.mit.edu 37 13 31231755 31231755 + Missense_Mutation SNP T T C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr13:31231755T>C ENST00000255304.4 + 9 1883 c.1541T>C c.(1540-1542)cTt>cCt p.L514P NM_005800.4 NP_005791.3 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 514 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3) 34 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) TGCCTTCCACTTAAAAAGACT 0.408000 43 75 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7402801 7402801 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:7402801C>T ENST00000322644.6 + 10 2061 c.1662C>T c.(1660-1662)ttC>ttT p.F554F POLR2A_ENST00000572844.1_Silent_p.F554F NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 554 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|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 binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) GAGACGTCTTCCTGGAGCGGG 0.542000 11 31 0 0 1 0 0 MAML1 9794 broad.mit.edu 37 5 179192799 179192799 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:179192799C>T ENST00000292599.3 + 2 1051 c.788C>T c.(787-789)cCc>cTc p.P263L MAML1_ENST00000503050.1_3'UTR NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 263 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGTCGGTGCCCGATGAAGAC 0.542000 26 57 0 0 1 0 0 PPFIA1 8500 broad.mit.edu 37 11 70178155 70178155 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:70178155G>A ENST00000253925.7 + 9 1382 c.1167G>A c.(1165-1167)ccG>ccA p.P389P PPFIA1_ENST00000389547.3_Silent_p.P389P|AP000487.6_ENST00000528607.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 389 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) AGACGCTCCCGGAGGTGGAGG 0.557000 34 120 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93834497 93834497 + Silent SNP A A G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:93834497A>G ENST00000315765.9 + 14 2579 c.2571A>G c.(2569-2571)aaA>aaG p.K857K NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 857 Plastocyanin-like 5. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CCATGACAAAACCAGGTAAGT 0.453000 12 42 0 0 1 0 0 ACCSL 390110 broad.mit.edu 37 11 44074226 44074226 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:44074226C>T ENST00000378832.1 + 6 843 c.787C>T c.(787-789)Cct>Tct p.P263S NM_001031854.2 NP_001027025.2 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 263 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2) 34 CTTCCTGGTCCCTGCTCCCTT 0.542000 68 274 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144993600 144993600 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:144993600G>A ENST00000322810.4 - 32 10969 c.10800C>T c.(10798-10800)cgC>cgT p.R3600R PLEC_ENST00000354958.2_Silent_p.R3441R|PLEC_ENST00000527096.1_Silent_p.R3486R|PLEC_ENST00000357649.2_Silent_p.R3467R|PLEC_ENST00000354589.3_Silent_p.R3463R|PLEC_ENST00000436759.2_Silent_p.R3490R|PLEC_ENST00000398774.2_Silent_p.R3431R|PLEC_ENST00000345136.3_Silent_p.R3463R|PLEC_ENST00000356346.3_Silent_p.R3449R NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3600 Globular 2. 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 CCTCCAGCAGGCGGATGCCGT 0.672000 34 61 0 0 1 0 0 SMYD4 114826 broad.mit.edu 37 17 1686376 1686376 + Silent SNP A A G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:1686376A>G ENST00000305513.7 - 10 2381 c.2214T>C c.(2212-2214)gtT>gtC p.V738V NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 738 zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21 GGCCCATTTCAACACTGGACG 0.512000 10 52 0 0 1 0 0 SGCA 6442 broad.mit.edu 37 17 48246517 48246517 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:48246517G>A ENST00000262018.3 + 6 685 c.649G>A c.(649-651)Gat>Aat p.D217N SGCA_ENST00000451235.2_Missense_Mutation_p.D115N|SGCA_ENST00000344627.6_Intron|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000543315.1_Intron NM_000023.2 NP_000014.1 Q16586 SGCA_HUMAN sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 217 muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1) 14 GGCATCCCCCGATAGCCACGC 0.572000 OREG0024558 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 61 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7034542 7034542 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr18:7034542G>A ENST00000389658.3 - 14 2080 c.1987C>T c.(1987-1989)Ctt>Ttt p.L663F NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 663 Laminin IV type A 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACATTGGCAAGGACAGTCATC 0.408000 10 49 0 0 1 0 0 CKMT2 1160 broad.mit.edu 37 5 80547042 80547042 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:80547042C>T ENST00000424301.2 + 3 329 c.91C>T c.(91-93)Ctg>Ttg p.L31L CTC-281B15.1_ENST00000503483.2_RNA|CKMT2_ENST00000505704.1_3'UTR|CKMT2_ENST00000437669.1_Silent_p.L31L|CKMT2_ENST00000254035.4_Silent_p.L31L|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000501927.2_RNA NM_001825.2 NP_001816.2 P17540 KCRS_HUMAN creatine kinase, mitochondrial 2 (sarcomeric) 31 creatine metabolic process|muscle contraction mitochondrial inner membrane ATP binding|creatine kinase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1) 17 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) CACCGGGTACCTGCTGAACCG 0.537000 40 184 0 0 1 0 0 SYDE2 84144 broad.mit.edu 37 1 85665947 85665947 + Missense_Mutation SNP T T A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:85665947T>A ENST00000341460.5 - 1 782 c.733A>T c.(733-735)Att>Ttt p.I245F NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 245 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) GTCAGCGTAATTCTTTGGTCT 0.512000 15 59 0 0 1 0 0 LRRC8B 23507 broad.mit.edu 37 1 90048330 90048330 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:90048330C>T ENST00000330947.2 + 5 481 c.121C>T c.(121-123)Ctg>Ttg p.L41L LRRC8B_ENST00000358200.4_Silent_p.L41L|LRRC8B_ENST00000439853.1_Silent_p.L41L NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 41 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) GGTGGCCGTGCTGGCCGGAGC 0.507000 27 86 0 0 1 0 0 HTR1F 3355 broad.mit.edu 37 3 88040371 88040371 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:88040371C>T ENST00000319595.4 + 1 526 c.472C>T c.(472-474)Cct>Tct p.P158S NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 158 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) CTCTATGCCTCCTCTATTCTG 0.403000 8 18 0 0 1 0 0 AP4E1 23431 broad.mit.edu 37 15 51207706 51207706 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:51207706C>T ENST00000261842.5 + 3 390 c.284C>T c.(283-285)tCc>tTc p.S95F AP4E1_ENST00000560508.1_Missense_Mutation_p.S20F NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 95 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) TATGATGCTTCCTTTGGCTAT 0.333000 7 39 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248201644 248201644 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:248201644C>T ENST00000366479.2 + 1 171 c.75C>T c.(73-75)ttC>ttT p.F25F OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TTGGCCTTTTCGTATTCACCC 0.378000 24 110 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112524457 112524457 + Missense_Mutation SNP A A T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:112524457A>T ENST00000369697.1 - 1 961 c.892T>A c.(892-894)Ttc>Atc p.F298I KCND3_ENST00000302127.4_Missense_Mutation_p.F298I|KCND3_ENST00000315987.2_Missense_Mutation_p.F298I Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 298 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GAAAACTTGAAGATCCTGAAG 0.597000 10 46 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30700060 30700060 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:30700060G>A ENST00000256246.2 - 1 6548 c.6474C>T c.(6472-6474)ctC>ctT p.L2158L NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2158 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GTTCTCTTGAGAGCAAATGAA 0.328000 15 25 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136594187 136594187 + Nonsense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:136594187G>A ENST00000264162.2 - 1 563 c.553C>T c.(553-555)Cag>Tag p.Q185* NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 185 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CTTGATTCCTGGTGGGGAAGC 0.512000 18 52 0 0 1 0 0 FUT3 2525 broad.mit.edu 37 19 5844517 5844517 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:5844517C>T ENST00000303225.6 - 3 968 c.334G>A c.(334-336)Gat>Aat p.D112N FUT3_ENST00000589918.1_Missense_Mutation_p.D112N|FUT3_ENST00000589620.1_Missense_Mutation_p.D112N|FUT3_ENST00000458379.2_Missense_Mutation_p.D112N NM_000149.3 NP_000140.1 P21217 FUT3_HUMAN fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 112 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 GACATGATATCCCAGTGGTGC 0.622000 32 84 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167643793 167643793 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:167643793G>A ENST00000519204.1 + 21 3854 c.3736G>A c.(3736-3738)Ggg>Agg p.G1246R TENM2_ENST00000520394.1_Missense_Mutation_p.G1128R|TENM2_ENST00000545108.1_Missense_Mutation_p.G1366R|TENM2_ENST00000518659.1_Missense_Mutation_p.G1367R|TENM2_ENST00000403607.2_Missense_Mutation_p.G1191R teneurin transmembrane protein 2 AGACAAGAATGGGCTCATGTA 0.532000 17 43 0 0 1 0 0 FIBIN 387758 broad.mit.edu 37 11 27016272 27016272 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:27016272G>A ENST00000318627.2 + 1 645 c.199G>A c.(199-201)Ggg>Agg p.G67R NM_203371.1 NP_976249.1 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog (zebrafish) 67 extracellular region|Golgi apparatus breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 CTGCTCCCAGGGGGAGGGGAG 0.667000 7 18 0 0 1 0 0 MON2 23041 broad.mit.edu 37 12 62986505 62986505 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:62986505C>T ENST00000393630.3 + 36 5524 c.5133C>T c.(5131-5133)tcC>tcT p.S1711S MON2_ENST00000552738.1_Silent_p.S1681S|MON2_ENST00000551397.1_Silent_p.S84S|MON2_ENST00000393629.2_Silent_p.S1704S|MON2_ENST00000393632.2_Silent_p.S1710S|MON2_ENST00000546600.1_3'UTR NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 1711 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) CACCAGCATCCAGAGTTCAAA 0.393000 10 70 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32218714 32218714 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr22:32218714C>T ENST00000400246.1 + 24 2184 c.2042C>T c.(2041-2043)tCc>tTc p.S681F DEPDC5_ENST00000266091.3_Missense_Mutation_p.S681F|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000400248.1_Missense_Mutation_p.S681F|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S681F|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S681F|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S681F O75140 DEPD5_HUMAN DEP domain containing 5 681 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 GACGGCATGTCCTTCTTGAAC 0.512000 19 21 0 0 1 0 0 RAPH1 65059 broad.mit.edu 37 2 204305455 204305455 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:204305455G>A ENST00000319170.5 - 14 2757 c.2458C>T c.(2458-2460)Cct>Tct p.P820S RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Missense_Mutation_p.P872S NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 820 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TAAGAAGCAGGGAAAGCTGGC 0.577000 14 39 0 0 1 0 0 TPH1 7166 broad.mit.edu 37 11 18047225 18047225 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:18047225C>T ENST00000250018.2 - 7 1389 c.827G>A c.(826-828)gGt>gAt p.G276D TPH1_ENST00000341556.2_Missense_Mutation_p.G276D NM_004179.2 NP_004170.1 P17752 TPH1_HUMAN tryptophan hydroxylase 1 276 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) CGGGACATGACCTAAGAGTTC 0.438000 28 78 0 0 1 0 0 HS3ST2 9956 broad.mit.edu 37 16 22926750 22926750 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:22926750G>A ENST00000261374.3 + 2 1405 c.971G>A c.(970-972)cGa>cAa p.R324Q NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 324 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) CTCCTGCCTCGATGCTTGGGC 0.403000 41 137 0 0 1 0 0 C1orf186 440712 broad.mit.edu 37 1 206243202 206243202 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:206243202G>A ENST00000331555.5 - 3 698 c.60C>T c.(58-60)ttC>ttT p.F20F NM_001007544.1 NP_001007545.1 Q6ZWK4 CA186_HUMAN chromosome 1 open reading frame 186 20 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 BRCA - Breast invasive adenocarcinoma(75;0.0754) AGGCCTGCAGGAAGAGGGACA 0.532000 14 49 0 0 1 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42364047 42364047 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:42364047C>T ENST00000290472.3 - 15 1592 c.1498G>A c.(1498-1500)Gag>Aag p.E500K NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 500 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) CCGAAGAGCTCAGGAGGGACG 0.607000 8 49 0 0 1 0 0 OR56B1 387748 broad.mit.edu 37 11 5758091 5758091 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:5758091C>T ENST00000317121.3 + 1 411 c.345C>T c.(343-345)ttC>ttT p.F115F TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) CCATTCACTTCTTTGTGGGCA 0.458000 13 37 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69682287 69682287 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:69682287G>A ENST00000265403.7 + 1 577 c.550G>A c.(550-552)Gga>Aga p.G184R UGT2B10_ENST00000458688.2_Intron NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 184 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 AAGGCACAGTGGAGGATTTAT 0.413000 27 88 0 0 1 0 0 GABPA 2551 broad.mit.edu 37 21 27124540 27124540 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr21:27124540C>T ENST00000354828.3 + 5 1075 c.548C>T c.(547-549)cCc>cTc p.P183L GABPA_ENST00000487266.1_3'UTR|GABPA_ENST00000400075.3_Missense_Mutation_p.P183L NM_001197297.1 NP_001184226.1 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha subunit 60kDa 183 PNT. positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 24 CTTGGGATACCCTATGGTAAT 0.363000 7 24 0 0 1 0 0 CAPSL 133690 broad.mit.edu 37 5 35910588 35910588 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:35910588C>T ENST00000397367.2 - 3 321 c.195G>A c.(193-195)atG>atA p.M65I CAPSL_ENST00000514524.1_Missense_Mutation_p.M65I|CAPSL_ENST00000397366.1_Missense_Mutation_p.M65I NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 65 EF-hand 1. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) TTAACCCTTTCATAAATTCTT 0.318000 13 56 0 0 1 0 0 ZNF433 163059 broad.mit.edu 37 19 12128746 12128746 + Nonsense_Mutation SNP T T A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:12128746T>A ENST00000419886.2 - 4 331 c.40A>T c.(40-42)Aaa>Taa p.K14* CTD-2006C1.10_ENST00000547473.1_3'UTR|ZNF433_ENST00000344980.6_Nonsense_Mutation_p.K49*|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA Q8N7K0 ZN433_HUMAN zinc finger protein 433 49 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1) 14 GGTTTCCATTTTTTCCCTACA 0.333000 8 24 0 0 1 0 0 TUB 7275 broad.mit.edu 37 11 8122513 8122513 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:8122513G>A ENST00000305253.4 + 12 1762 c.1521G>A c.(1519-1521)gtG>gtA p.V507V TUB_ENST00000299506.2_Silent_p.V452V|TUB_ENST00000534099.1_Silent_p.V458V NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 452 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) AGGCCTCCGTGAAGAACTTCC 0.517000 18 52 0 0 1 0 0 CFAP54 144535 broad.mit.edu 37 12 97087561 97087561 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:97087561G>A ENST00000524981.3 + 12 1679 c.1679G>A c.(1678-1680)aGa>aAa p.R560K Q6ZTY8 CL063_HUMAN 534 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 GACATAACAAGAAATCTAGAA 0.299000 9 43 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179587748 179587748 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:179587748C>T ENST00000444136.1 + 5 1096 c.846C>T c.(844-846)ttC>ttT p.F282F TDRD5_ENST00000294848.8_Silent_p.F282F|TDRD5_ENST00000367614.1_Silent_p.F282F NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 282 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 AGAACACATTCAAATCAGTTA 0.333000 9 32 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10243690 10243690 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:10243690C>T ENST00000418404.3 - 16 2086 c.1923G>A c.(1921-1923)ggG>ggA p.G641G MYH13_ENST00000252172.4_Silent_p.G641G|MYH13_ENST00000570743.1_Silent_p.G641G|RP11-401O9.3_ENST00000577743.1_RNA Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 641 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CCTTCTTCTTCCCGCCCTTCT 0.552000 9 41 0 0 1 0 0 LRRC43 254050 broad.mit.edu 37 12 122677396 122677396 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:122677396C>T ENST00000339777.4 + 7 1222 c.1194C>T c.(1192-1194)gtC>gtT p.V398V LRRC43_ENST00000425921.1_Silent_p.V213V NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 398 Glu-rich. NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) CTGAAGAGGTCGAAGGGTCTC 0.532000 14 29 0 0 1 0 0 FFAR3 2865 broad.mit.edu 37 19 35849942 35849942 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:35849942G>A ENST00000327809.4 + 2 351 c.150G>A c.(148-150)gtG>gtA p.V50V FFAR3_ENST00000594310.1_Silent_p.V50V NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 50 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) CGGTGGCCGTGGACGTGCTCC 0.657000 23 125 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20101726 20101726 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:20101726G>A ENST00000396085.1 + 25 5657 c.5296G>A c.(5296-5298)Gac>Aac p.D1766N NAV2_ENST00000527559.2_Missense_Mutation_p.D1751N|NAV2_ENST00000540292.1_Missense_Mutation_p.D1753N|NAV2_ENST00000349880.4_Missense_Mutation_p.D1766N|NAV2_ENST00000360655.4_Missense_Mutation_p.D1702N|NAV2_ENST00000396087.3_Missense_Mutation_p.D1822N|NAV2_ENST00000311043.8_Missense_Mutation_p.D830N|NAV2_ENST00000533917.1_Missense_Mutation_p.D830N NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1822 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CATAGAGAGTGACTCAAAGAA 0.582000 8 28 0 0 1 0 0 CCDC9 26093 broad.mit.edu 37 19 47774722 47774722 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:47774722C>T ENST00000221922.6 + 12 1605 c.1383C>T c.(1381-1383)ccC>ccT p.P461P NM_015603.2 NP_056418.1 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 461 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 12 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) CCGGGATCCCCTGCAGTGAGC 0.662000 16 48 0 0 1 0 0 ASAP3 55616 broad.mit.edu 37 1 23760146 23760146 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:23760146C>T ENST00000336689.3 - 20 2036 c.1992G>A c.(1990-1992)aaG>aaA p.K664K ASAP3_ENST00000437606.2_Silent_p.K655K|ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000495646.1_Silent_p.K168K NM_017707.3 NP_060177.2 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 664 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 TGTGGTGCTTCTTCCTGGCTA 0.547000 14 59 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39932643 39932643 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chrX:39932643G>A ENST00000342274.4 - 4 2318 c.1956C>T c.(1954-1956)ccC>ccT p.P652P BCOR_ENST00000378444.4_Silent_p.P652P|BCOR_ENST00000378455.4_Silent_p.P652P|BCOR_ENST00000397354.3_Silent_p.P652P NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 652 Pro-rich. heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 TCCTGGGGTAGGGAATTGGTG 0.527000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 9 11 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94964692 94964692 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:94964692G>A ENST00000341228.2 - 3 838 c.43C>T c.(43-45)Ctc>Ttc p.L15F SERPINA12_ENST00000556881.1_Missense_Mutation_p.L15F NM_173850.2 NP_776249.1 Q8IW75 SPA12_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 15 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) TTCACCGTGAGGAGAACAGCC 0.468000 23 64 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130832540 130832540 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:130832540G>A ENST00000357462.5 - 15 2598 c.2505C>T c.(2503-2505)gcC>gcT p.A835A POTEF_ENST00000409914.2_Silent_p.A835A A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 835 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CAGCCTGGATGGCCACGTACA 0.592000 60 66 0 0 1 0 0 SP2 6668 broad.mit.edu 37 17 46002387 46002387 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:46002387G>A ENST00000376741.4 + 5 1612 c.1475G>A c.(1474-1476)gGa>gAa p.G492E AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA NM_003110.5 NP_003101.3 Q02086 SP2_HUMAN Sp2 transcription factor 492 immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|histone deacetylase binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 13 GCCCTGGCCGGAGAGACCCAG 0.602000 17 54 0 0 1 0 0 OR8B3 390271 broad.mit.edu 37 11 124267052 124267052 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:124267052G>A ENST00000354597.3 - 1 212 c.196C>T c.(196-198)Ctc>Ttc p.L66F NM_001005467.1 NP_001005467.1 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, member 3 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) ATGAAGGAGAGATTGAAGAGG 0.393000 10 60 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29886060 29886060 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr22:29886060G>A ENST00000310624.6 + 4 2464 c.2431G>A c.(2431-2433)Gag>Aag p.E811K NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 817 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. E -> A (in dbSNP:rs165602). cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 CAAGGCCCCTGAGAAGGAGAT 0.542000 9 18 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69796267 69796267 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:69796267G>A ENST00000251566.4 - 5 1331 c.1301C>T c.(1300-1302)tCc>tTc p.S434F UGT2A3_ENST00000420231.2_Missense_Mutation_p.S145F NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 434 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TACTTACGAGGAATCGGTAAT 0.378000 21 88 0 0 1 0 0 CACTIN 58509 broad.mit.edu 37 19 3623981 3623981 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:3623981G>A ENST00000429344.2 - 2 399 c.347C>T c.(346-348)tCc>tTc p.S116F CACTIN_ENST00000248420.5_Missense_Mutation_p.S116F|CACTIN_ENST00000221899.3_Missense_Mutation_p.S48F NM_001080543.1 NP_001074012.1 cactin, spliceosome C complex subunit CGCGGAGCTGGATGCTGAGGA 0.726000 8 20 0 0 1 0 0 DDO 8528 broad.mit.edu 37 6 110714419 110714419 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:110714419C>T ENST00000368924.3 - 5 684 c.669G>A c.(667-669)aaG>aaA p.K223K DDO_ENST00000368925.1_Silent_p.K195K|DDO_ENST00000368923.3_Silent_p.K164K NM_003649.2 NP_003640.2 Q99489 OXDD_HUMAN D-aspartate oxidase 195 aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity p.K223K(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3) 24 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) CAGGGAAAATCTTTGAGTCTC 0.502000 47 76 0 0 1 0 0 ACTL6B 51412 broad.mit.edu 37 7 100245141 100245141 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:100245141C>T ENST00000160382.5 - 8 791 c.685G>A c.(685-687)Ggt>Agt p.G229S NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 229 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGGGGGGCACCCTCCCGGACA 0.602000 15 67 0 0 1 0 0 C15orf32 145858 broad.mit.edu 37 15 93015497 93015497 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:93015497G>A ENST00000333334.2 + 1 614 c.119G>A c.(118-120)gGa>gAa p.G40E C15orf32_ENST00000556865.1_Missense_Mutation_p.G40E NM_153040.2 NP_694585.1 Q32M92 CO032_HUMAN chromosome 15 open reading frame 32 40 endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 12 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125) AGAGGAGAAGGAACGGCTCCC 0.547000 15 70 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102959855 102959855 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:102959855G>A ENST00000311734.2 + 8 1289 c.950G>A c.(949-951)aGa>aAa p.R317K IL1RL1_ENST00000233954.1_Missense_Mutation_p.R317K|IL1RL1_ENST00000409584.1_Missense_Mutation_p.R303K|IL1RL1_ENST00000404917.2_Missense_Mutation_p.R200K Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 317 Ig-like C2-type 3. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 CACACCGTAAGACTAAGTAGG 0.433000 31 84 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42784515 42784515 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:42784515C>T ENST00000310232.6 - 8 943 c.860G>A c.(859-861)cGg>cAg p.R287Q CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 287 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 AGACTGGCTCCGGGCCTGGCC 0.547000 38 136 0 0 1 0 0 CHST5 23563 broad.mit.edu 37 16 75563351 75563351 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:75563351G>A ENST00000336257.3 - 3 2326 c.932C>T c.(931-933)gCc>gTc p.A311V CHST5_ENST00000541075.1_Missense_Mutation_p.A317V|RP11-77K12.7_ENST00000460606.1_3'UTR NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 311 A -> T (in dbSNP:rs7206332). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 GCCGGTGAAGGCGTAGAGTGC 0.677000 56 93 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31040176 31040176 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:31040176C>T ENST00000355537.3 + 4 3797 c.3650C>T c.(3649-3651)cCc>cTc p.P1217L NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ACCTCCCAGCCCGTCCAGGGA 0.627000 14 47 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20559458 20559458 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:20559458G>A ENST00000329697.6 - 8 1192 c.1024C>T c.(1024-1026)Ctt>Ttt p.L342F ACSM2B_ENST00000565232.1_Missense_Mutation_p.L342F|ACSM2B_ENST00000565322.1_Missense_Mutation_p.L263F|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.L342F NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 342 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 GTTTCTGGAAGAAGGGACTCC 0.532000 61 145 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82455909 82455909 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:82455909C>T ENST00000423517.2 - 18 14748 c.14411G>A c.(14410-14412)gGg>gAg p.G4804E PCLO_ENST00000333891.8_Missense_Mutation_p.G4804E|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4666 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCTTACCTCCCCAAGGAAGTC 0.383000 15 59 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43224001 43224001 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr18:43224001C>T ENST00000255226.6 + 10 2043 c.1227C>T c.(1225-1227)ttC>ttT p.F409F SLC14A2_ENST00000586448.1_Silent_p.F409F NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 409 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCATCATCTTCCTGCTCCTGA 0.542000 30 160 0 0 1 0 0 ENTPD6 955 broad.mit.edu 37 20 25193953 25193953 + Missense_Mutation SNP G G A rs143491411 by1000genomes TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr20:25193953G>A ENST00000360031.2 + 5 687 c.505G>A c.(505-507)Gac>Aac p.D169N ENTPD6_ENST00000433259.2_Missense_Mutation_p.D170N|ENTPD6_ENST00000376652.4_Missense_Mutation_p.D170N|ENTPD6_ENST00000354989.5_Missense_Mutation_p.D153N NM_001247.2 NP_001238.2 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) 170 Golgi membrane|integral to membrane nucleoside-diphosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 CATTCCGTTCGACTTCTGGAA 0.547000 12 65 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99440126 99440126 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:99440126G>A ENST00000268035.6 + 4 1705 c.1094G>A c.(1093-1095)cGa>cAa p.R365Q IGF1R_ENST00000558762.1_Missense_Mutation_p.R365Q NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 365 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) ATTAACATCCGACGGGGGAGT 0.443000 15 38 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28554131 28554131 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:28554131C>T ENST00000452236.2 - 1 981 c.364G>A c.(364-366)Gag>Aag p.E122K SCAND3_ENST00000530247.1_Intron NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 122 SCAN box. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 GTCACCACCTCTTCTCCACTC 0.527000 40 177 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5283370 5283370 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr20:5283370G>A ENST00000546004.1 - 3 717 c.471C>T c.(469-471)atC>atT p.I157I PROKR2_ENST00000217270.3_Silent_p.I157I Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 157 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 AGGGGTGAACGATGGCGAGAT 0.478000 HNSCC(71;0.22) 24 70 0 0 1 0 0 ARID5B 84159 broad.mit.edu 37 10 63850979 63850979 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr10:63850979C>T ENST00000279873.7 + 10 2167 c.1757C>T c.(1756-1758)cCt>cTt p.P586L ARID5B_ENST00000309334.5_Missense_Mutation_p.P343L NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 586 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding p.P586>?(1) NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) ACAGAGAGCCCTGAAAGTGAA 0.557000 13 26 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50140113 50140113 + Nonsense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr20:50140113G>A ENST00000371564.3 - 2 886 c.667C>T c.(667-669)Cga>Tga p.R223* NFATC2_ENST00000396009.3_Nonsense_Mutation_p.R223*|NFATC2_ENST00000414705.1_Nonsense_Mutation_p.R203* NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 223 3 X approximate SP repeats. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) AGGCTGGTTCGAGGTGACATT 0.647000 44 159 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197021902 197021902 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:197021902C>T ENST00000367412.1 - 9 1460 c.1417G>A c.(1417-1419)Gaa>Aaa p.E473K NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 473 Sushi 8. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 ACTTTCCCTTCATATTTCCAC 0.318000 8 22 0 0 1 0 0 ZNF585B 92285 broad.mit.edu 37 19 37697981 37697981 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:37697981G>A ENST00000532828.2 - 2 284 c.33C>T c.(31-33)tcC>tcT p.S11S CTC-454I21.3_ENST00000585860.2_Silent_p.S11S|ZNF585B_ENST00000527838.1_Silent_p.S11S NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCAGGGCTGAGGATTTCTGGG 0.522000 16 64 0 0 1 0 0 CDH15 1013 broad.mit.edu 37 16 89256815 89256815 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:89256815G>A ENST00000289746.2 + 8 1208 c.1143G>A c.(1141-1143)cgG>cgA p.R381R NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 381 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) ACCCACTTCGGACCAGCCTAG 0.682000 6 12 0 0 1 0 0 ANKH 56172 broad.mit.edu 37 5 14756009 14756009 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:14756009G>A ENST00000284268.6 - 4 807 c.477C>T c.(475-477)ttC>ttT p.F159F NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 159 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 ATCCCACCAGGAAACTGTATT 0.453000 12 52 0 0 1 0 0 SLC22A23 63027 broad.mit.edu 37 6 3284163 3284163 + Silent SNP G G A rs114978759 byFrequency TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:3284163G>A ENST00000436008.2 - 10 2112 c.1650C>T c.(1648-1650)atC>atT p.I550I SLC22A23_ENST00000490273.1_Silent_p.I261I|SLC22A23_ENST00000406686.3_Silent_p.I542I|SLC22A23_ENST00000380302.4_Silent_p.I261I|PSMG4_ENST00000451246.2_Intron A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 542 ion transport integral to membrane transmembrane transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(93;0.0493) all_hematologic(90;0.0905) ACATGCCCACGATGGAAAACG 0.582000 8 28 0 0 1 0 0 BPIFA3 128861 broad.mit.edu 37 20 31811762 31811762 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr20:31811762G>A ENST00000375454.3 + 2 483 c.273G>A c.(271-273)gaG>gaA p.E91E BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Silent_p.E91E NM_178466.3 NP_848561.2 Q9BQP9 SPLC3_HUMAN BPI fold containing family A, member 3 91 extracellular region lipid binding AGCAGCAAGAGAGCAGGTGAG 0.577000 19 51 0 0 1 0 0 PRKCZ 5590 broad.mit.edu 37 1 2082315 2082315 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:2082315C>T ENST00000400921.2 + 6 908 c.225C>T c.(223-225)atC>atT p.I75I PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Silent_p.I75I NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta 258 OPR. anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) TCAGAGTCATCGGGCGCGGGA 0.512000 19 49 0 0 1 0 0 KIAA1009 22832 broad.mit.edu 37 6 84862745 84862745 + Missense_Mutation SNP C C G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:84862745C>G ENST00000403245.3 - 23 3262 c.3148G>C c.(3148-3150)Gac>Cac p.D1050H KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.D974H NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 1050 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) TTAAGAACGTCTATTTCGGCT 0.393000 9 9 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47605499 47605499 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:47605499C>T ENST00000273857.4 - 20 2726 c.2727G>A c.(2725-2727)cgG>cgA p.R909R CORIN_ENST00000508498.1_Silent_p.R770R|CORIN_ENST00000502252.1_Silent_p.R842R|CORIN_ENST00000505909.1_Silent_p.R872R NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 909 Peptidase S1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 AGCAGACAGGCCGGACGTAGC 0.542000 14 41 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5262892 5262892 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:5262892C>T ENST00000274181.7 + 18 2923 c.2785C>T c.(2785-2787)Ccc>Tcc p.P929S NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 929 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TGCCTGTCCTCCCAGGTAAGA 0.507000 19 44 0 0 1 0 0 AGTRAP 57085 broad.mit.edu 37 1 11810169 11810169 + Nonsense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:11810169C>T ENST00000314340.5 + 5 454 c.400C>T c.(400-402)Cag>Tag p.Q134* AGTRAP_ENST00000452018.2_3'UTR|AGTRAP_ENST00000376629.4_Nonsense_Mutation_p.Q127*|AGTRAP_ENST00000376637.3_3'UTR|AGTRAP_ENST00000400895.2_3'UTR|AGTRAP_ENST00000510878.1_Silent_p.T98T|AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000491346.1_3'UTR NM_020350.4 NP_065083.3 Q6RW13 ATRAP_HUMAN angiotensin II receptor-associated protein 134 cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein binding AGTRAP/BRAF(2) endometrium(1)|lung(3)|prostate(1) 5 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) TAGTGCCTACCAGACGATTGA 0.582000 6 28 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150924486 150924486 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:150924486G>A ENST00000261800.5 - 9 6214 c.6202C>T c.(6202-6204)Ccc>Tcc p.P2068S NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2068 Cadherin 17. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTAAATTTGGGGGGATTGTCA 0.512000 21 67 0 0 1 0 0 FASTKD1 79675 broad.mit.edu 37 2 170428363 170428363 + Missense_Mutation SNP G G C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:170428363G>C ENST00000453153.2 - 2 523 c.177C>G c.(175-177)aaC>aaG p.N59K FASTKD1_ENST00000453929.2_Missense_Mutation_p.N59K NM_024622.3 NP_078898.3 Q53R41 FAKD1_HUMAN FAST kinase domains 1 59 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 GTATGGCTTTGTTTCTTTCAA 0.373000 13 28 0 0 1 0 0 GABPA 2551 broad.mit.edu 37 21 27124539 27124539 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr21:27124539C>T ENST00000354828.3 + 5 1074 c.547C>T c.(547-549)Ccc>Tcc p.P183S GABPA_ENST00000487266.1_3'UTR|GABPA_ENST00000400075.3_Missense_Mutation_p.P183S NM_001197297.1 NP_001184226.1 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha subunit 60kDa 183 PNT. positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 24 CCTTGGGATACCCTATGGTAA 0.358000 7 25 0 0 1 0 0 ITGB5 3693 broad.mit.edu 37 3 124483383 124483383 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:124483383G>A ENST00000296181.4 - 14 2455 c.2159C>T c.(2158-2160)gCc>gTc p.A720V NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 720 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) GATGGTCATGGCGTTGGGGGT 0.577000 9 17 0 0 1 0 0 NOD1 10392 broad.mit.edu 37 7 30491985 30491985 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:30491985G>A ENST00000222823.4 - 6 1573 c.1048C>T c.(1048-1050)Cgg>Tgg p.R350W NOD1_ENST00000423334.2_3'UTR NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 350 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 GAGAAGCCCCGGAGAAGCACC 0.677000 14 43 0 0 1 0 0 RBP7 116362 broad.mit.edu 37 1 10067711 10067711 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:10067711C>T ENST00000294435.7 + 2 200 c.157C>T c.(157-159)Cac>Tac p.H53Y NM_052960.2 NP_443192.1 Q96R05 RET7_HUMAN retinol binding protein 7, cellular 53 cytoplasm retinal binding|retinol binding|transporter activity endometrium(1)|large_intestine(1) 2 all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) TTTTACCATCCACACGAACAG 0.373000 11 28 0 0 1 0 0 KIF19 124602 broad.mit.edu 37 17 72340914 72340914 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:72340914G>A ENST00000389916.4 + 7 735 c.597G>A c.(595-597)ctG>ctA p.L199L NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 199 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 TGCAGCTGCTGATGAAGGGGA 0.687000 29 58 0 0 1 0 0 TMEM156 80008 broad.mit.edu 37 4 38972719 38972719 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:38972719C>T ENST00000381938.3 - 6 969 c.862G>A c.(862-864)Gaa>Aaa p.E288K NM_024943.1 NP_079219.1 Q8N614 TM156_HUMAN transmembrane protein 156 288 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 GGAAGCACTTCCTGGACTTGA 0.418000 16 65 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34068090 34068090 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:34068090G>A ENST00000373381.4 - 43 6765 c.6589C>T c.(6589-6591)Cct>Tct p.P2197S CSMD2_ENST00000373380.1_Missense_Mutation_p.P1070S|CSMD2_ENST00000373377.1_Missense_Mutation_p.P296S|CSMD2_ENST00000373388.2_Missense_Mutation_p.P296S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2199 CUB 13. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TACGGGCTAGGGAACCCCGGG 0.622000 13 31 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209103868 209103868 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:209103868C>T ENST00000415913.1 - 9 1462 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K IDH1_ENST00000345146.2_Missense_Mutation_p.E361K|IDH1_ENST00000446179.1_Missense_Mutation_p.E361K O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 361 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAGAGACTTCTTCCAAAGCA 0.428000 Mis gliobastoma 12 33 0 0 1 0 0 TSPY2 64591 broad.mit.edu 37 Y 6114317 6114317 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chrY:6114317C>T ENST00000320701.4 + 1 54 c.8C>T c.(7-9)cCt>cTt p.P3L TSPY2_ENST00000383042.1_Missense_Mutation_p.P3L NM_022573.2 NP_072095.2 A6NKD2 TSPY2_HUMAN testis specific protein, Y-linked 2 3 cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis cytoplasm|nucleus liver(1)|lung(4)|prostate(1)|skin(1) 7 CGCATGCGCCCTGAGGGCTCG 0.706000 12 12 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023615 18023615 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:18023615C>T ENST00000205890.5 + 2 1839 c.1501C>T c.(1501-1503)Ctg>Ttg p.L501L NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 501 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GCCACCCTCTCTGGACATTCC 0.637000 10 45 0 0 1 0 0 RUFY4 285180 broad.mit.edu 37 2 218938609 218938609 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:218938609G>A ENST00000374155.3 + 7 1011 c.601G>A c.(601-603)Gtg>Atg p.V201M RUFY4_ENST00000344321.7_Splice_Site|RUFY4_ENST00000441828.2_Splice_Site|RUFY4_ENST00000463872.1_Intron Q6ZNE9 RUFY4_HUMAN RUN and FYVE domain containing 4 200 metal ion binding endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CCCAAAGAAGGTGCCTCTGCC 0.552000 OREG0015195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 27 0 0 1 0 0 ORAOV1 220064 broad.mit.edu 37 11 69482296 69482296 + Silent SNP A A T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:69482296A>T ENST00000279147.4 - 5 512 c.405T>A c.(403-405)ctT>ctA p.L135L ORAOV1_ENST00000536870.1_Silent_p.L76L|ORAOV1_ENST00000535657.1_Silent_p.L135L|ORAOV1_ENST00000539414.1_3'UTR NM_153451.2 NP_703152.1 Q8WV07 ORAV1_HUMAN oral cancer overexpressed 1 135 NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) CTCAAAATGAAAGTCCGGAAC 0.428000 10 38 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113444369 113444369 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:113444369G>A ENST00000392583.2 + 8 1827 c.1620G>A c.(1618-1620)aaG>aaA p.K540K RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Silent_p.K540K NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 540 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CCAAACTAAAGGATTTAATTC 0.453000 20 96 0 0 1 0 0 ARHGAP6 395 broad.mit.edu 37 X 11206986 11206986 + Silent SNP A A T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chrX:11206986A>T ENST00000337414.4 - 4 1811 c.939T>A c.(937-939)gcT>gcA p.A313A ARHGAP6_ENST00000413512.3_Silent_p.A122A|ARHGAP6_ENST00000534860.1_Silent_p.A138A|ARHGAP6_ENST00000380736.1_Silent_p.A110A|ARHGAP6_ENST00000303025.6_Silent_p.A110A|ARHGAP6_ENST00000380718.1_Silent_p.A313A|ARHGAP6_ENST00000380732.3_Silent_p.A345A NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 313 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GGAGGAGGGAAGCCACAAAGT 0.463000 19 24 0 0 1 0 0 MAN2B1 4125 broad.mit.edu 37 19 12767499 12767499 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:12767499G>A ENST00000456935.2 - 13 1570 c.1530C>T c.(1528-1530)ttC>ttT p.F510F MAN2B1_ENST00000495617.1_5'UTR|MAN2B1_ENST00000221363.4_Silent_p.F509F NM_000528.3|NM_001173498.1 NP_000519.2|NP_001166969.1 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 510 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CGATGACCTGGAACTGGGGAG 0.587000 18 96 0 0 1 0 0 MME 4311 broad.mit.edu 37 3 154858045 154858045 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:154858045G>A ENST00000460393.1 + 10 1041 c.921G>A c.(919-921)caG>caA p.Q307Q MME_ENST00000493237.1_Silent_p.Q307Q|MME_ENST00000360490.2_Silent_p.Q307Q|MME_ENST00000462745.1_Silent_p.Q307Q|MME_ENST00000492661.1_Silent_p.Q307Q NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 307 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.Q307H(2) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CATTGGCCCAGATCCAAAATA 0.323000 12 34 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32218715 32218715 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr22:32218715C>T ENST00000400246.1 + 24 2185 c.2043C>T c.(2041-2043)tcC>tcT p.S681S DEPDC5_ENST00000266091.3_Silent_p.S681S|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000400248.1_Silent_p.S681S|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000400249.2_Silent_p.S681S|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382111.2_Silent_p.S681S|DEPDC5_ENST00000382112.3_Silent_p.S681S O75140 DEPD5_HUMAN DEP domain containing 5 681 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 ACGGCATGTCCTTCTTGAACT 0.512000 19 21 0 0 1 0 0 SHE 126669 broad.mit.edu 37 1 154461772 154461772 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:154461772G>A ENST00000304760.2 - 3 865 c.779C>T c.(778-780)cCc>cTc p.P260L NM_001010846.2 NP_001010846.1 Q5VZ18 SHE_HUMAN Src homology 2 domain containing E 260 breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 14 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) GGGTTCACAGGGACTGTCAAG 0.532000 16 66 0 0 1 0 0 FBXL13 222235 broad.mit.edu 37 7 102667980 102667980 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:102667980G>A ENST00000393772.2 - 5 669 c.243C>T c.(241-243)atC>atT p.I81I FBXL13_ENST00000379305.3_Silent_p.I81I|FBXL13_ENST00000436908.1_Silent_p.I81I|FBXL13_ENST00000456695.1_Silent_p.I81I|FBXL13_ENST00000379306.3_Silent_p.I81I|FBXL13_ENST00000379308.3_Silent_p.I81I|FBXL13_ENST00000313221.4_Silent_p.I81I|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000455112.2_Silent_p.I81I Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 81 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 GACAATAGATGATCTGTTGTA 0.299000 4 18 0 0 1 0 0 CD55 1604 broad.mit.edu 37 1 207510105 207510105 + Silent SNP A A G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:207510105A>G ENST00000367064.3 + 7 1179 c.921A>G c.(919-921)acA>acG p.T307T CD55_ENST00000465534.1_3'UTR|CD55_ENST00000314754.8_Silent_p.T307T|CD55_ENST00000391921.4_Silent_p.T243T|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367065.5_Silent_p.T307T|CD55_ENST00000367063.2_Silent_p.T307T|CD55_ENST00000367062.4_Silent_p.T307T|CD55_ENST00000391920.4_Silent_p.T307T NM_000574.3 NP_000565.1 P08174 DAF_HUMAN CD55 molecule, decay accelerating factor for complement (Cromer blood group) 307 Ser/Thr-rich. complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 Chloramphenicol(DB00446) TTCCAACTACAGAAGTCTCAC 0.413000 15 46 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89848347 89848347 + Splice_Site SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:89848347G>A ENST00000310775.7 + 29 3146 c.3058_splice c.e29-1 p.E1020_splice FANCI_ENST00000300027.8_Splice_Site_p.E960_splice NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 1020 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) TATTCCTAGAGGATGCCTTGT 0.488000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 26 92 0 0 1 0 0 MIA2 117153 broad.mit.edu 37 14 39722039 39722039 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:39722039C>T ENST00000280082.3 + 5 1854 c.1655C>T c.(1654-1656)tCg>tTg p.S552L RP11-407N17.3_ENST00000553728.1_Intron NM_054024.3 NP_473365.3 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 161 extracellular region NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 31 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) GATGAAAATTCGAAACCATCA 0.378000 10 35 0 0 1 0 0 CEP63 80254 broad.mit.edu 37 3 134256013 134256013 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:134256013C>T ENST00000337090.3 + 6 631 c.458C>T c.(457-459)tCg>tTg p.S153L CEP63_ENST00000332047.5_Missense_Mutation_p.S153L|CEP63_ENST00000513612.2_Missense_Mutation_p.S153L|CEP63_ENST00000354446.3_Missense_Mutation_p.S153L|CEP63_ENST00000606977.1_Missense_Mutation_p.S153L|CEP63_ENST00000383229.3_Missense_Mutation_p.S153L Q96MT8 CEP63_HUMAN centrosomal protein 63kDa 153 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding p.S153L(1) kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CGTCAGAAATCGCTGGACTGG 0.438000 22 64 0 0 1 0 0 POLR3GL 84265 broad.mit.edu 37 1 145457937 145457937 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:145457937G>A ENST00000369314.1 - 4 429 c.323C>T c.(322-324)cCt>cTt p.P108L POLR3GL_ENST00000369313.3_Intron NM_032305.1 NP_115681.1 Q9BT43 RPC7L_HUMAN polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like 108 endometrium(2)|large_intestine(1)|lung(1) 4 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCACCTACCAGGGTTCCAATC 0.502000 12 45 0 0 1 0 0 CRYGB 1419 broad.mit.edu 37 2 209007439 209007439 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:209007439C>T ENST00000260988.4 - 3 498 c.451G>A c.(451-453)Gag>Aag p.E151K NM_005210.3 NP_005201.2 P07316 CRGB_HUMAN crystallin, gamma B 151 Beta/gamma crystallin 'Greek key' 4. visual perception structural constituent of eye lens cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1) 14 Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132) CTCCTGTACTCCCCCGGCCTC 0.507000 42 89 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141736629 141736629 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:141736629G>A ENST00000475668.2 + 18 2137 c.2083G>A c.(2083-2085)Gat>Aat p.D695N MGAM_ENST00000549489.2_Missense_Mutation_p.D695N O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 695 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) CCAGGACCAGGATCCTGCCTC 0.483000 62 175 0 0 1 0 0 TXNDC9 10190 broad.mit.edu 37 2 99938561 99938561 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:99938561G>A ENST00000264255.3 - 4 675 c.420C>T c.(418-420)atC>atT p.I140I C2orf15_ENST00000465095.1_Intron|TXNDC9_ENST00000409434.1_Silent_p.I140I NM_005783.3 NP_005774.2 O14530 TXND9_HUMAN thioredoxin domain containing 9 140 Thioredoxin. cell redox homeostasis protein binding lung(1) 1 GAATGACTTTGATATGCAGTC 0.398000 20 72 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12979653 12979653 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:12979653G>A ENST00000251472.4 + 21 2802 c.2763G>A c.(2761-2763)atG>atA p.M921I NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 921 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TATCTGTCATGATTCCTGCAG 0.567000 9 48 0 0 1 0 0 STC2 8614 broad.mit.edu 37 5 172750362 172750362 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:172750362G>A ENST00000265087.4 - 3 1675 c.366C>T c.(364-366)agC>agT p.S122S STC2_ENST00000520593.1_5'UTR NM_003714.2 NP_003705.1 O76061 STC2_HUMAN stanniocalcin 2 122 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GGCACTTCCGGCTTATGCAGC 0.602000 5 31 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54685258 54685258 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:54685258G>A ENST00000545554.1 + 17 4726 c.4726G>A c.(4726-4728)Gat>Aat p.D1576N UNC13C_ENST00000260323.11_Missense_Mutation_p.D1576N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1574N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1576 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TAAGAAACAGGATATTCCTCG 0.378000 14 62 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145107471 145107471 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:145107471G>A ENST00000426825.1 - 23 3265 c.3184C>T c.(3184-3186)Ccc>Tcc p.P1062S OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 1062 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) GAGCCTCGGGGAATGACCACG 0.726000 7 26 0 0 1 0 0 LMOD1 25802 broad.mit.edu 37 1 201868727 201868727 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:201868727C>T ENST00000367288.4 - 2 1660 c.1414G>A c.(1414-1416)Gac>Aac p.D472N RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 472 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 CTCTGCTTGTCCATGTTGCGG 0.587000 8 12 0 0 1 0 0 TREML4 285852 broad.mit.edu 37 6 41196702 41196702 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:41196702G>A ENST00000341495.2 + 2 418 c.314G>A c.(313-315)gGa>gAa p.G105E TREML4_ENST00000448827.2_Missense_Mutation_p.G105E NM_198153.2 NP_937796.1 Q6UXN2 TRML4_HUMAN triggering receptor expressed on myeloid cells-like 4 105 Ig-like V-type. extracellular region breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.196) AATGACTCGGGATTCTACTGG 0.468000 17 69 0 0 1 0 0 ATP2C2 9914 broad.mit.edu 37 16 84482159 84482159 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:84482159C>T ENST00000416219.2 + 17 1613 c.1524C>T c.(1522-1524)ttC>ttT p.F508F ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.F508F O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 508 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 ACATTTACTTCATGAAAGGGG 0.527000 27 41 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606115 84606115 + Missense_Mutation SNP C C G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:84606115C>G ENST00000344803.2 + 4 777 c.730C>G c.(730-732)Ccc>Gcc p.P244A NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CCAACAGCTTCCCTTTCCCCT 0.527000 25 194 0 0 1 0 0 NOM1 64434 broad.mit.edu 37 7 156743169 156743169 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:156743169C>T ENST00000275820.3 + 1 753 c.738C>T c.(736-738)ctC>ctT p.L246L NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 246 Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus. RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) GACAGACACTCCCCGAAAGTG 0.547000 11 56 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141468629 141468629 + Missense_Mutation SNP T T A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:141468629T>A ENST00000389328.4 - 1 49 c.35A>T c.(34-36)cAc>cTc p.H12L NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 0 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 CTTCCCCCTGTGTGGCGCGCG 0.687000 5 19 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9050129 9050129 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr19:9050129G>A ENST00000397910.4 - 5 31705 c.31502C>T c.(31501-31503)cCc>cTc p.P10501L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10503 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCCCAAAGTGGGAGTATAGAC 0.498000 98 311 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138632579 138632579 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr6:138632579C>T ENST00000251691.4 + 25 4298 c.4132C>T c.(4132-4134)Cca>Tca p.P1378S NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1378 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) AGACTGTGCCCCAGCACCCGG 0.642000 5 10 0 0 1 0 0 TLR6 10333 broad.mit.edu 37 4 38830500 38830500 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:38830500G>A ENST00000436693.2 - 2 714 c.595C>T c.(595-597)Ctt>Ttt p.L199F TLR6_ENST00000381950.1_Missense_Mutation_p.L199F NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 199 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ACAAGGTGAAGGGTTTTTGCA 0.303000 5 18 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857670 9857670 + Missense_Mutation SNP T T C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:9857670T>C ENST00000396573.2 - 14 4040 c.3731A>G c.(3730-3732)aAc>aGc p.N1244S GRIN2A_ENST00000330684.3_Missense_Mutation_p.N1244S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.N1244S|GRIN2A_ENST00000535259.1_Missense_Mutation_p.N1087S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.N1244S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.N1244S NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1244 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTCATAGAGGTTCCCCATCCG 0.572000 18 70 0 0 1 0 0 PLSCR3 57048 broad.mit.edu 37 17 7296609 7296609 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr17:7296609C>T ENST00000535512.1 - 8 1378 c.361G>A c.(361-363)Gag>Aag p.E121K C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000574401.1_Missense_Mutation_p.E121K|PLSCR3_ENST00000324822.11_Missense_Mutation_p.E121K|PLSCR3_ENST00000576362.1_Missense_Mutation_p.E121K|PLSCR3_ENST00000576201.1_Missense_Mutation_p.E121K Q9NRY6 PLS3_HUMAN phospholipid scramblase 3 121 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding endometrium(1)|kidney(2)|urinary_tract(1) 4 Prostate(122;0.173) TTGCTCTCCTCGGCCGCCTGA 0.711000 10 31 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120941994 120941994 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr3:120941994C>T ENST00000273666.6 + 11 1372 c.1101C>T c.(1099-1101)ccC>ccT p.P367P STXBP5L_ENST00000497029.1_Silent_p.P367P|STXBP5L_ENST00000472879.1_Silent_p.P367P|STXBP5L_ENST00000471454.1_Silent_p.P367P|STXBP5L_ENST00000492541.1_Silent_p.P367P NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 367 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GTGAAACGCCCTATCCAAATG 0.294000 5 25 0 0 1 0 0 ACSL1 2180 broad.mit.edu 37 4 185694280 185694280 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:185694280G>A ENST00000515030.1 - 10 1195 c.870C>T c.(868-870)caC>caT p.H290H ACSL1_ENST00000507295.1_Silent_p.H256H|ACSL1_ENST00000504342.1_Silent_p.H290H|ACSL1_ENST00000454703.2_Silent_p.H119H|ACSL1_ENST00000437665.3_Silent_p.H119H|ACSL1_ENST00000281455.2_Silent_p.H290H|ACSL1_ENST00000513317.1_Silent_p.H290H|ACSL1_ENST00000504900.1_Silent_p.H290H P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 290 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CTATGTTTCGGTGAGTGACCA 0.428000 10 31 0 0 1 0 0 SLC36A4 120103 broad.mit.edu 37 11 92881868 92881868 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:92881868G>A ENST00000326402.4 - 11 1480 c.1350C>T c.(1348-1350)gtC>gtT p.V450V SLC36A4_ENST00000529184.1_Silent_p.V315V NM_152313.2 NP_689526.2 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid symporter), member 4 450 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TATTTTTCAGGACCATCCATA 0.373000 13 55 0 0 1 0 0 MTHFR 4524 broad.mit.edu 37 1 11850910 11850910 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:11850910C>T ENST00000376592.1 - 11 1926 c.1798G>A c.(1798-1800)Gag>Aag p.E600K MTHFR_ENST00000376590.3_Missense_Mutation_p.E600K|MTHFR_ENST00000376583.3_Missense_Mutation_p.E641K|MTHFR_ENST00000376585.1_Missense_Mutation_p.E641K P42898 MTHR_HUMAN methylenetetrahydrofolate reductase (NAD(P)H) 600 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) GACTCCTCCTCATACAGCTTT 0.567000 24 64 0 0 1 0 0 NAP1L5 266812 broad.mit.edu 37 4 89618588 89618588 + Silent SNP T T C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr4:89618588T>C ENST00000323061.5 - 1 798 c.318A>G c.(316-318)gaA>gaG p.E106E HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 106 nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TATACTTTTTTTCCAGAGCCT 0.498000 17 47 0 0 1 0 0 ZNF683 257101 broad.mit.edu 37 1 26694127 26694127 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:26694127C>T ENST00000436292.1 - 3 396 c.276G>A c.(274-276)ctG>ctA p.L92L ZNF683_ENST00000403843.1_Silent_p.L92L|ZNF683_ENST00000374204.1_Silent_p.L92L|ZNF683_ENST00000349618.3_Silent_p.L92L Q8IZ20 ZN683_HUMAN zinc finger protein 683 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GGTCTGTGCCCAGGGGTGCCG 0.697000 10 22 0 0 1 0 0 FAM132A 388581 broad.mit.edu 37 1 1179872 1179872 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:1179872G>A ENST00000330388.2 - 2 214 c.183C>T c.(181-183)tcC>tcT p.S61S NM_001014980.2 NP_001014980.1 Q5T7M4 F132A_HUMAN family with sequence similarity 132, member A 61 extracellular region haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CTGAGGCCTGGGATGGCTGAA 0.672000 14 49 0 0 1 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7670097 7670097 + Missense_Mutation SNP A A G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:7670097A>G ENST00000299492.4 + 19 2252 c.1864A>G c.(1864-1866)Aaa>Gaa p.K622E PPFIBP2_ENST00000530181.1_Missense_Mutation_p.K479E|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.K510E|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.K464E NM_003621.3 NP_003612.2 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 622 SAM 1. cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) CATCAACACCAAACAGGAGGA 0.413000 44 123 0 0 1 0 0 TESC 54997 broad.mit.edu 37 12 117477006 117477006 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:117477006C>T ENST00000335209.7 - 8 763 c.577G>A c.(577-579)Ggg>Agg p.G193R TESC_ENST00000392545.4_Missense_Mutation_p.G246R|TESC_ENST00000541210.1_Missense_Mutation_p.G166R Q96BS2 TESC_HUMAN tescalcin 193 negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0297) ATGTCGATCCCCTGCCAGATC 0.632000 4 15 0 0 1 0 0 PADI2 11240 broad.mit.edu 37 1 17429530 17429530 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr1:17429530C>T ENST00000375486.4 - 3 364 c.301G>A c.(301-303)Gaa>Aaa p.E101K PADI2_ENST00000375481.1_Missense_Mutation_p.E101K|PADI2_ENST00000444885.2_Missense_Mutation_p.E101K NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 101 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) ATGCTCCCTTCCTCGTCATAG 0.557000 6 12 0 0 1 0 0 NRIP1 8204 broad.mit.edu 37 21 16337534 16337534 + Missense_Mutation SNP A A C TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr21:16337534A>C ENST00000400202.1 - 3 3692 c.2980T>G c.(2980-2982)Tgc>Ggc p.C994G NRIP1_ENST00000318948.4_Missense_Mutation_p.C994G|NRIP1_ENST00000400199.1_Missense_Mutation_p.C994G P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 994 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) TTATCCATGCAACTGCTGGGC 0.423000 6 29 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634223 70634223 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:70634223C>T ENST00000381269.2 - 2 1670 c.917G>A c.(916-918)gGg>gAg p.G306E SLC8A3_ENST00000357887.3_Missense_Mutation_p.G306E|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G306E|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G306E|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G306E NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 306 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CACTTCCTTCCCTTCCAGGGG 0.493000 14 52 0 0 1 0 0 YIF1A 10897 broad.mit.edu 37 11 66055103 66055103 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:66055103C>T ENST00000376901.4 - 4 577 c.393G>A c.(391-393)cgG>cgA p.R131R YIF1A_ENST00000359461.6_Silent_p.R131R|YIF1A_ENST00000471387.2_5'UTR NM_020470.2 NP_065203.2 O95070 YIF1A_HUMAN Yip1 interacting factor homolog A (S. cerevisiae) 131 protein transport|vesicle-mediated transport centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 9 TGAGGTCTTGCCGGGGGGGCA 0.627000 6 18 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51096953 51096953 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:51096953C>T ENST00000395542.2 - 12 2270 c.2086G>A c.(2086-2088)Gcc>Acc p.A696T COBL_ENST00000265136.7_Missense_Mutation_p.A614T O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 614 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TTAGATAAGGCCACACGGATT 0.507000 12 47 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138698539 138698539 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chrX:138698539C>T ENST00000520602.1 - 12 1558 c.1273G>A c.(1273-1275)Gac>Aac p.D425N MCF2_ENST00000536274.1_Missense_Mutation_p.D326N|MCF2_ENST00000370573.4_Missense_Mutation_p.D365N|MCF2_ENST00000519895.1_Missense_Mutation_p.D425N|MCF2_ENST00000370576.4_Missense_Mutation_p.D365N|MCF2_ENST00000370578.4_Missense_Mutation_p.D510N|MCF2_ENST00000414978.1_Missense_Mutation_p.D425N|MCF2_ENST00000338585.6_Missense_Mutation_p.D365N P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 365 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TTTTCAATGTCTTGGAGAGCT 0.363000 18 25 0 0 1 0 0 LUC7L 55692 broad.mit.edu 37 16 239273 239273 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:239273G>A ENST00000293872.8 - 10 1150 c.1040C>T c.(1039-1041)cCg>cTg p.P347L LUC7L_ENST00000337351.4_3'UTR|LUC7L_ENST00000397783.1_3'UTR NM_201412.1 NP_958815.1 Q9NQ29 LUC7L_HUMAN LUC7-like (S. cerevisiae) 347 Arg/Ser-rich. metal ion binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 11 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) CCTCCAGTCCGGGGGCCCTCG 0.632000 32 73 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160808037 160808037 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:160808037G>A ENST00000283243.7 - 24 3560 c.3354C>T c.(3352-3354)acC>acT p.T1118T PLA2R1_ENST00000392771.1_Silent_p.T1118T NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1118 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CATATTCTAAGGTATTGGGCA 0.373000 13 43 0 0 1 0 0 SCEL 8796 broad.mit.edu 37 13 78202095 78202095 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr13:78202095G>A ENST00000535157.1 + 26 1686 c.1516G>A c.(1516-1518)Gaa>Aaa p.E506K SCEL_ENST00000377246.3_Missense_Mutation_p.E528K|SCEL_ENST00000349847.3_Missense_Mutation_p.E548K NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 548 16 X approximate tandem repeats. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) CCAGAACCTGGAAAATTTAAT 0.249000 10 23 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325545 150325545 + Silent SNP C C T rs138777121 TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr7:150325545C>T ENST00000328902.5 - 3 357 c.141G>A c.(139-141)ggG>ggA p.G47G GIMAP6_ENST00000493969.1_Intron NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 47 GTP binding p.G47G(1) endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCCCTGTTTTCCCCATGAGAA 0.527000 102 312 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79051791 79051791 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:79051791C>T ENST00000388820.4 - 24 5243 c.5033G>A c.(5032-5034)cGa>cAa p.R1678Q NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1678 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CTGATGGCCTCGGGAGGGGGC 0.731000 11 15 0 0 1 0 0 CYP19A1 1588 broad.mit.edu 37 15 51535062 51535062 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:51535062G>A ENST00000396402.1 - 2 201 c.48C>T c.(46-48)atC>atT p.I16I RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Silent_p.I16I|CYP19A1_ENST00000557858.1_Silent_p.I16I|CYP19A1_ENST00000396404.4_Silent_p.I16I|CYP19A1_ENST00000559878.1_Silent_p.I16I|CYP19A1_ENST00000405913.3_Silent_p.I16I NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 16 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) CTTCAGGCACGATGCTGGTGA 0.488000 20 119 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117840333 117840333 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr9:117840333C>T ENST00000350763.4 - 7 2974 c.2563G>A c.(2563-2565)Gag>Aag p.E855K TNC_ENST00000537320.1_Missense_Mutation_p.E855K|TNC_ENST00000535648.1_Missense_Mutation_p.E855K|TNC_ENST00000345230.3_Missense_Mutation_p.E855K|TNC_ENST00000341037.4_Missense_Mutation_p.E855K|TNC_ENST00000542877.1_Missense_Mutation_p.E855K|TNC_ENST00000340094.3_Missense_Mutation_p.E855K|TNC_ENST00000423613.2_Missense_Mutation_p.E855K|TNC_ENST00000346706.3_Missense_Mutation_p.E855K NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 855 Fibronectin type-III 3. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 TACTGGTTCTCGTCCTCTGTG 0.562000 19 29 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634274 70634274 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr14:70634274C>T ENST00000381269.2 - 2 1619 c.866G>A c.(865-867)gGg>gAg p.G289E SLC8A3_ENST00000357887.3_Missense_Mutation_p.G289E|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G289E|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G289E|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G289E NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 289 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CATCATTTTCCCATCCATCTC 0.473000 14 50 0 0 1 0 0 SEC14L3 266629 broad.mit.edu 37 22 30864571 30864571 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr22:30864571G>A ENST00000403066.1 - 6 453 c.170C>T c.(169-171)aCc>aTc p.T57I SEC14L3_ENST00000402286.1_Missense_Mutation_p.T39I|SEC14L3_ENST00000539629.1_Missense_Mutation_p.T57I|SEC14L3_ENST00000540910.1_Missense_Mutation_p.T39I|SEC14L3_ENST00000215812.4_Missense_Mutation_p.T116I|SEC14L3_ENST00000401751.1_Missense_Mutation_p.T57I|SEC14L3_ENST00000415957.2_Missense_Mutation_p.T57I Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 116 integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) GTCCTGCTTGGTGACTGAGAA 0.587000 40 45 0 0 1 0 0 NOSTRIN 115677 broad.mit.edu 37 2 169711862 169711862 + Splice_Site SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:169711862G>A ENST00000444448.2 + 14 1503 c.1026_splice c.e14-1 p.E343_splice NOSTRIN_ENST00000317647.7_Splice_Site_p.E286_splice|NOSTRIN_ENST00000397206.2_Splice_Site_p.E208_splice|NOSTRIN_ENST00000421711.2_Splice_Site_p.E258_splice|NOSTRIN_ENST00000458381.2_Splice_Site_p.E343_splice|NOSTRIN_ENST00000397209.2_Splice_Site_p.E258_splice|NOSTRIN_ENST00000445023.2_Splice_Site_p.E208_splice Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficking 286 endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 TTTCCTAAAGGAAGAAGATCC 0.368000 8 30 0 0 1 0 0 OR5I1 10798 broad.mit.edu 37 11 55703584 55703584 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:55703584C>T ENST00000301532.3 - 1 292 c.293G>A c.(292-294)gGg>gAg p.G98E NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G98V(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CAGGGCACACCCATAATAGGA 0.423000 7 27 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25886872 25886872 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr10:25886872G>A ENST00000376351.3 + 11 2676 c.2317G>A c.(2317-2319)Gac>Aac p.D773N GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 773 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CTCTAAAGAGGACAAGGAGGG 0.572000 17 58 0 0 1 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060381 35060381 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr20:35060381C>T ENST00000373913.3 + 3 741 c.261C>T c.(259-261)ccC>ccT p.P87P DLGAP4_ENST00000339266.5_Silent_p.P87P|DLGAP4_ENST00000401952.2_Silent_p.P87P|DLGAP4_ENST00000373907.2_Silent_p.P87P Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 87 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) AGGAGAGCCCCTTCCCCAGCC 0.622000 21 66 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133036948 133036948 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:133036948G>A ENST00000262283.5 - 18 1949 c.1850C>T c.(1849-1851)tCc>tTc p.S617F OC90_ENST00000603859.1_Missense_Mutation_p.S405F|OC90_ENST00000443356.2_Missense_Mutation_p.S421F|OC90_ENST00000254627.3_Missense_Mutation_p.S405F Q02509 OC90_HUMAN otoconin 90 421 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) TTGGTTAAAGGAGGCAGAGGT 0.602000 10 28 0 0 1 0 0 CDYL2 124359 broad.mit.edu 37 16 80718765 80718765 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr16:80718765G>A ENST00000299564.8 - 2 441 c.286C>T c.(286-288)Cct>Tct p.P96S CDYL2_ENST00000566173.1_Missense_Mutation_p.P96S|CDYL2_ENST00000562812.1_Missense_Mutation_p.P96S|CDYL2_ENST00000563890.1_Missense_Mutation_p.P96S|CDYL2_ENST00000562753.1_5'UTR NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 96 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 CTCTTTCCAGGATCTGAAGGT 0.547000 19 25 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72343356 72343356 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr18:72343356C>T ENST00000299687.5 + 1 381 c.381C>T c.(379-381)ctC>ctT p.L127L ZNF407_ENST00000582337.1_Silent_p.L127L|ZNF407_ENST00000577538.1_Silent_p.L127L|ZNF407_ENST00000309902.6_Silent_p.L127L NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 127 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GCACATGTCTCCCAAATGCCC 0.443000 11 51 0 0 1 0 0 CHN1 1123 broad.mit.edu 37 2 175673651 175673655 + Frame_Shift_Del DEL TAGGG TAGGG - TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr2:175673651_175673655delTAGGG ENST00000409900.3 - 11 1393_1397 c.1080_1084delCCCTA c.(1078-1086)taagfs p.YPK360fs CHN1_ENST00000409156.3_Frame_Shift_Del_p.YPK334fs|CHN1_ENST00000409597.1_Frame_Shift_Del_p.YPK176fs|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000295497.7_Frame_Shift_Del_p.YPK235fs NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 360 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) TCTATAAACTTAGGGTAGGCATCAT 0.366 T TAF15 extraskeletal myxoid chondrosarcoma 28 211 --- --- --- --- MAP1B 4131 broad.mit.edu 37 5 71491413 71491415 + In_Frame_Del DEL CTC CTC - TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr5:71491413_71491415delCTC ENST00000296755.7 + 5 2529_2531 c.2231_2233delCTC c.(2230-2235)act>a p.TP744del NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 744 Lys-rich (highly basic, contains many KKEE and KKEI/V repeats). microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AAATCATCTACTCCTCTGTCTGA 0.394 29 117 --- --- --- --- TMEM67 91147 broad.mit.edu 37 8 94811923 94811923 + Frame_Shift_Del DEL T T - TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr8:94811923delT ENST00000453321.3 + 21 2236 c.2178delT c.(2176-2178)ccfs p.P726fs TMEM67_ENST00000409623.3_Frame_Shift_Del_p.P645fs NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 726 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) ACATAGCTCCTTATAGCTGCA 0.378 17 51 --- --- --- --- PSD 5662 broad.mit.edu 37 10 104175780 104175781 + Frame_Shift_Ins INS - - G TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr10:104175780_104175781insG ENST00000020673.5 - 3 1276_1277 c.750_751insC c.(748-753)ccgctcfs p.L251fs PSD_ENST00000406432.1_Frame_Shift_Ins_p.L251fs NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 251 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) TTACCTGAGCTGGGGGGGTCCA 0.604 6 6 --- --- --- --- SIK3 23387 broad.mit.edu 37 11 116968980 116968980 + Frame_Shift_Del DEL G G - TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr11:116968980delG ENST00000375300.1 - 1 157 c.152delC c.(151-153)cafs p.P51fs SIK3_ENST00000292055.4_5'UTR|SIK3_ENST00000542607.1_5'UTR|SIK3_ENST00000446921.2_Frame_Shift_Del_p.P51fs|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000434315.2_5'UTR Q9Y2K2 SIK3_HUMAN SIK family kinase 3 0 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 GGCCGGGGCTGGGGGACGCGG 0.791 2 4 --- --- --- --- TULP3 7289 broad.mit.edu 37 12 3040231 3040231 + Frame_Shift_Del DEL C C - TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr12:3040231delC ENST00000448120.2 + 6 572 c.521delC c.(520-522)gcfs p.A175fs TULP3_ENST00000397132.2_Frame_Shift_Del_p.A175fs NM_003324.4 NP_003315.2 O75386 TULP3_HUMAN tubby like protein 3 175 TSGSATAAQPADNL -> IPVLLLPPNQLITF (in Ref. 1). G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) TCTGCTACTGCCGCCCAACCA 0.488 19 123 --- --- --- --- GOLGA6L7P 728310 broad.mit.edu 37 15 29091004 29091006 + RNA DEL CTT CTT - TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chr15:29091004_29091006delCTT ENST00000569815.1 - 0 387 NR_047567.1 GCAAAGAAACCTTCTCCAGAGGA 0.468 8 5 --- --- --- --- XIST 7503 broad.mit.edu 37 X 73071650 73071657 + RNA DEL TAAAATGG TAAAATGG - TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e1c5019-5bc6-4f75-aadf-7071035a48e9 ab697ba9-6817-4023-bae3-1c2996cba9da g.chrX:73071650_73071657delTAAAATGG ENST00000429829.1 - 0 931_938 NR_001564.2 GCGGCAAGTCTAAAATGGCGGCCACTTT 0.490 19 38 --- --- --- ---