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 ARSJ 79642 broad.mit.edu 37 4 114899926 114899926 + Missense_Mutation SNP C C A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr4:114899926C>A ENST00000315366.7 - 1 931 c.65G>T c.(64-66)gGa>gTa p.G22V ARSJ_ENST00000541197.1_Missense_Mutation_p.G22V|ARSJ_ENST00000503013.2_5'UTR NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 22 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) TAGCATCTTTCCAGGACAGAC 0.607000 138 15 7.39696e-70 8.68011e-70 1 1 0 CRTC2 200186 broad.mit.edu 37 1 153925843 153925843 + Missense_Mutation SNP G G A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr1:153925843G>A ENST00000368633.1 - 6 633 c.506C>T c.(505-507)aCa>aTa p.T169I CRTC2_ENST00000476883.1_5'UTR|CRTC2_ENST00000368630.3_Intron NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 169 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GTCAGAGCTTGTCCTATGGGG 0.592000 5 57 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31434762 31434762 + Silent SNP C C A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr16:31434762C>A ENST00000389202.2 + 25 2998 c.2949C>A c.(2947-2949)gtC>gtA p.V983V NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 983 V -> A (in Ref. 3; AAB60638). cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGGATGTGGTCATGGAGGCCC 0.542000 106 43 1.73998e-50 2.02119e-50 1 1 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651251 1651251 + Missense_Mutation SNP G G A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr11:1651251G>A ENST00000399676.2 + 1 219 c.181G>A c.(181-183)Ggc>Agc p.G61S NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 61 keratin filament p.G61S(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) atgtggctccggctgCTGTGT 0.682000 92 34 0 0 1 0 0 OR4C12 283093 broad.mit.edu 37 11 50003362 50003362 + Missense_Mutation SNP T T G TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr11:50003362T>G ENST00000335238.4 - 1 709 c.676A>C c.(676-678)Aat>Cat p.N226H NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 TCCAAGCTATTGTTCTTTAAA 0.408000 7 42 0 0 1 0 0 TRIM33 51592 broad.mit.edu 37 1 115006917 115006917 + Missense_Mutation SNP C C G TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr1:115006917C>G ENST00000358465.2 - 2 703 c.620G>C c.(619-621)aGc>aCc p.S207T TRIM33_ENST00000369543.2_Missense_Mutation_p.S207T NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 207 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ATCAGAACTGCTAGGAGCTTC 0.358000 T RET papillary thyroid 6 11 0 0 1 0 0 BRD1 23774 broad.mit.edu 37 22 50216636 50216636 + Silent SNP G G A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr22:50216636G>A ENST00000216267.8 - 1 1816 c.1330C>T c.(1330-1332)Ctg>Ttg p.L444L BRD1_ENST00000404034.1_Silent_p.L444L|BRD1_ENST00000542442.1_Silent_p.L83L|BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000457780.2_Silent_p.L444L|BRD1_ENST00000404760.1_Silent_p.L444L|BRD1_ENST00000459821.1_5'UTR NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 444 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) ACGGTCGGCAGGACCGCGCAG 0.572000 56 117 0 0 1 0 0 ZBTB3 79842 broad.mit.edu 37 11 62520200 62520200 + Missense_Mutation SNP C C G TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr11:62520200C>G ENST00000394807.3 - 2 1212 c.1087G>C c.(1087-1089)Gat>Cat p.D363H NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 363 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 GTCTCTTCATCAGAGATCACA 0.577000 27 35 0 0 1 0 0 LIN7A 8825 broad.mit.edu 37 12 81239693 81239693 + Missense_Mutation SNP C C A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr12:81239693C>A ENST00000552864.1 - 4 501 c.299G>T c.(298-300)aGt>aTt p.S100I NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 100 exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 GTGGCCTTCACTAGCTGCAAA 0.408000 18 0 9.16793e-09 1.00411e-08 1 1 0 DCP1A 55802 broad.mit.edu 37 3 53321609 53321609 + Missense_Mutation SNP G G T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr3:53321609G>T ENST00000607628.1 - 10 1853 c.1744C>A c.(1744-1746)Cac>Aac p.H582N DCP1A_ENST00000606822.1_Missense_Mutation_p.H544N|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Missense_Mutation_p.H580N NM_018403.5 NP_060873.4 Q9NPI6 DCP1A_HUMAN decapping mRNA 1A 580 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus hydrolase activity|protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647) CATAGGTTGTGGTTGTCTTTG 0.433000 17 32 3.32936e-07 3.61204e-07 1 1 0 RP11-622K12.1 0 broad.mit.edu 37 X 56763592 56763592 + RNA SNP G G T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chrX:56763592G>T ENST00000374922.4 + 0 468 NR_015367.2 TAAAACATCTGCAGACCAAAT 0.308000 3 14 0.004672 0.00479714 1 1 0 NUP93 9688 broad.mit.edu 37 16 56792513 56792513 + Silent SNP G G T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr16:56792513G>T ENST00000569842.1 + 3 339 c.243G>T c.(241-243)ctG>ctT p.L81L NUP93_ENST00000308159.5_Silent_p.L81L Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 81 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 TGGAGAGTCTGAGTGCAGCCA 0.517000 11 38 0.000673444 0.000704055 1 1 0 KCNT2 343450 broad.mit.edu 37 1 196397292 196397292 + Silent SNP C C T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr1:196397292C>T ENST00000367433.5 - 10 1028 c.927G>A c.(925-927)ctG>ctA p.L309L KCNT2_ENST00000294725.8_Silent_p.L309L|KCNT2_ENST00000367431.4_Silent_p.L309L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 309 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 AATCAATCTTCAGTGAGCTGA 0.393000 4 35 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 5 95 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50964799 50964799 + Splice_Site SNP G G A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr19:50964799G>A ENST00000357701.5 + 25 2983 c.2931_splice c.e25-1 p.E978_splice NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 978 Fibronectin type-III 3. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CCCACACTAGGAGTGGTTCAA 0.512000 OREG0025636 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 14 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 33999485 33999485 + Missense_Mutation SNP C C T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr1:33999485C>T ENST00000373381.4 - 63 10078 c.9902G>A c.(9901-9903)cGt>cAt p.R3301H NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3157 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) TTTTTGACAACGGAAGAGGAC 0.562000 17 11 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 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) TCTTAACTTACTGTTGTGAAA 0.418000 5 54 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121947777 121947777 + Missense_Mutation SNP C C T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr12:121947777C>T ENST00000377069.4 - 11 1553 c.1147G>A c.(1147-1149)Gcc>Acc p.A383T KDM2B_ENST00000377071.4_Missense_Mutation_p.A414T|KDM2B_ENST00000538046.2_Missense_Mutation_p.A324T|KDM2B_ENST00000536437.1_Missense_Mutation_p.A297T NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 414 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 TGATCACAGGCCTCCTCCTCC 0.627000 27 4 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95514946 95514946 + RNA SNP C C T rs143937878 by1000genomes TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr2:95514946C>T ENST00000432432.2 - 0 711 NR_040113.1 p.R201Q(1) ACTACTGTACCGTCTCAGCCT 0.308000 4 117 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152278956 152278956 + Silent SNP G G A rs137870179 byFrequency TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr1:152278956G>A ENST00000368799.1 - 3 8441 c.8406C>T c.(8404-8406)caC>caT p.H2802H FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2802 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.H2802Q(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCGAATGCTCGTGGTGGTACC 0.597000 Ichthyosis 17 763 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977358 29977358 + RNA SNP T T C rs146982767 by1000genomes TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr6:29977358T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA GATTTGTTCATGCCTTCCCTT 0.448000 4 39 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134628401 134628401 + Missense_Mutation SNP C C G TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr10:134628401C>G ENST00000368586.5 - 51 7235 c.7135G>C c.(7135-7137)Gag>Cag p.E2379Q TTC40_ENST00000263170.5_Missense_Mutation_p.E540Q NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 540 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CTTCTTCCCTCCTTTTTCACG 0.577000 7 129 0 0 1 0 0 POLR3D 661 broad.mit.edu 37 8 22106726 22106726 + Silent SNP C C G TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr8:22106726C>G ENST00000397802.4 + 6 1040 c.825C>G c.(823-825)ctC>ctG p.L275L POLR3D_ENST00000306433.4_Silent_p.L275L P05423 RPC4_HUMAN polymerase (RNA) III (DNA directed) polypeptide D, 44kDa 275 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 13 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) CAGACACCCTCCCTGGCCAGC 0.597000 9 49 0 0 1 0 0 BRD1 23774 broad.mit.edu 37 22 50216637 50216637 + Silent SNP G G T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr22:50216637G>T ENST00000216267.8 - 1 1815 c.1329C>A c.(1327-1329)gtC>gtA p.V443V BRD1_ENST00000404034.1_Silent_p.V443V|BRD1_ENST00000542442.1_Silent_p.V82V|BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000457780.2_Silent_p.V443V|BRD1_ENST00000404760.1_Silent_p.V443V|BRD1_ENST00000459821.1_5'UTR NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 443 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) CGGTCGGCAGGACCGCGCAGG 0.567000 56 119 7.34454e-26 8.44623e-26 1 1 0 TMTC4 84899 broad.mit.edu 37 13 101266664 101266664 + Silent SNP G G A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr13:101266664G>A ENST00000342624.5 - 16 2115 c.1857C>T c.(1855-1857)caC>caT p.H619H TMTC4_ENST00000376234.3_Silent_p.H600H|TMTC4_ENST00000328767.5_Silent_p.H489H NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 600 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AGGCATCCACGTGGCGATTGA 0.413000 10 93 0 0 1 0 0 SAMHD1 25939 broad.mit.edu 37 20 35545400 35545400 + Missense_Mutation SNP G G C TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr20:35545400G>C ENST00000262878.4 - 8 1104 c.905C>G c.(904-906)tCt>tGt p.S302C SAMHD1_ENST00000373694.5_Missense_Mutation_p.S87C NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 302 HD. defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity p.S302Y(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) TCTTTTATTAGATACTATCTC 0.363000 18 25 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47363917 47363917 + Missense_Mutation SNP A A G rs138128932 by1000genomes TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr18:47363917A>G ENST00000285039.7 - 37 5407 c.5108T>C c.(5107-5109)gTc>gCc p.V1703A RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|SCARNA17_ENST00000589499.1_RNA NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1703 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.V1703A(5) NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CCAAGAGCAGACGTCCTTCCG 0.527000 3 31 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 240531 240531 + Missense_Mutation SNP C C G TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr5:240531C>G ENST00000264932.6 + 11 1606 c.1491C>G c.(1489-1491)gaC>gaG p.D497E SDHA_ENST00000510361.1_Missense_Mutation_p.D449E|SDHA_ENST00000504309.1_Missense_Mutation_p.D497E NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 497 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) TGAATCTTGACAAATTGAGAT 0.428000 Familial Paragangliomas 4 73 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51889956 51889956 + Nonsense_Mutation SNP G G T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr6:51889956G>T ENST00000371117.3 - 32 4927 c.4652C>A c.(4651-4653)tCa>tAa p.S1551* PKHD1_ENST00000340994.4_Nonsense_Mutation_p.S1551* NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1551 IPT/TIG 10. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ATAAAAAACTGACAGGTAGTG 0.403000 10 51 0.0581538 0.0586639 1 1 0 SLC35D3 340146 broad.mit.edu 37 6 137243603 137243603 + Missense_Mutation SNP T T G TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr6:137243603T>G ENST00000331858.4 + 1 202 c.37T>G c.(37-39)Tcg>Gcg p.S13A NM_001008783.1 NP_001008783.1 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 13 carbohydrate transport integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) GCTGGGCATCTCGGTGGCCAT 0.701000 4 14 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511815 195511815 + Silent SNP G G A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr3:195511815G>A ENST00000463781.3 - 2 7095 c.6636C>T c.(6634-6636)acC>acT p.T2212T MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2212T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1001 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.T2212T(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGAAGGGCTGGTGACAGGAA 0.602000 4 32 0 0 1 0 0 ZNF425 155054 broad.mit.edu 37 7 148809307 148809307 + Missense_Mutation SNP C C G TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr7:148809307C>G ENST00000378061.2 - 3 358 c.226G>C c.(226-228)Gat>Cat p.D76H ZNF425_ENST00000484196.1_5'UTR NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 76 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CTTGTTTTATCTAAGCATCCC 0.398000 4 73 0 0 1 0 0 FPR2 2358 broad.mit.edu 37 19 52272749 52272749 + Missense_Mutation SNP A A T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr19:52272749A>T ENST00000598776.1 + 2 1610 c.838A>T c.(838-840)Att>Ttt p.I280F FPR2_ENST00000340023.6_Missense_Mutation_p.I280F|FPR2_ENST00000598953.1_Missense_Mutation_p.I280F NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 280 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 GTACAAAATCATTGACATCCT 0.498000 13 45 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16327903 16327903 + Missense_Mutation SNP C C A rs3817753 TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr6:16327903C>A ENST00000244769.4 - 8 1575 c.639G>T c.(637-639)caG>caT p.Q213H ATXN1_ENST00000436367.1_Missense_Mutation_p.Q213H NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 213 Poly-Gln. 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) gctgctgctgctgctgatgct 0.667000 5 33 0.014758 0.0150192 1 1 0 CYP1A2 1544 broad.mit.edu 37 15 75042815 75042815 + Missense_Mutation SNP C C T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr15:75042815C>T ENST00000343932.4 + 2 799 c.736C>T c.(736-738)Cct>Tct p.P246S NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 246 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) TCGCTACCTGCCTAACCCTGC 0.552000 33 116 0 0 1 0 0 CAPZB 832 broad.mit.edu 37 1 19712043 19712043 + Silent SNP C C T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr1:19712043C>T ENST00000264203.3 - 4 742 c.249G>A c.(247-249)aaG>aaA p.K83K CAPZB_ENST00000375144.1_Silent_p.K45K|CAPZB_ENST00000375142.1_Silent_p.K57K|CAPZB_ENST00000401084.2_Silent_p.K57K|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000264202.6_Silent_p.K57K|CAPZB_ENST00000433834.1_Silent_p.K86K P47756 CAPZB_HUMAN capping protein (actin filament) muscle Z-line, beta 57 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement cytosol|F-actin capping protein complex|WASH complex actin binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 7 Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173) AAAGGTAATCCTTTCCCACCA 0.547000 20 27 0 0 1 0 0 MCF2L 23263 broad.mit.edu 37 13 113748841 113748841 + Silent SNP G G T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr13:113748841G>T ENST00000397030.1 + 27 3103 c.3066G>T c.(3064-3066)acG>acT p.T1022T MCF2L_ENST00000423482.2_Silent_p.T987T|MCF2L_ENST00000421756.1_Silent_p.T993T|MCF2L_ENST00000442652.2_Silent_p.T1019T|MCF2L_ENST00000434480.2_Silent_p.T995T|MCF2L_ENST00000375604.2_Silent_p.T1046T|MCF2L_ENST00000375601.3_Silent_p.T993T|MCF2L_ENST00000535094.2_Silent_p.T989T|MCF2L_ENST00000375608.3_Silent_p.T1019T O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 1019 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) GGAGCAAAACGTCCCACTCAC 0.622000 5 39 0.000602214 0.000635364 1 1 0 GPR15 2838 broad.mit.edu 37 3 98251260 98251260 + Missense_Mutation SNP G G A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr3:98251260G>A ENST00000284311.3 + 1 518 c.383G>A c.(382-384)aGt>aAt p.S128N NM_005290.1 NP_005281.1 P49685 GPR15_HUMAN G protein-coupled receptor 15 128 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) ACTTGCATGAGTGTTGACCGC 0.522000 19 37 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656143 40656143 + Silent SNP G G A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr2:40656143G>A ENST00000406785.1 - 2 1467 c.1278C>T c.(1276-1278)gcC>gcT p.A426A SLC8A1_ENST00000542756.1_Silent_p.A426A|SLC8A1_ENST00000332839.4_Silent_p.A426A|SLC8A1_ENST00000542024.1_Silent_p.A426A|SLC8A1_ENST00000408028.2_Silent_p.A426A|SLC8A1_ENST00000406391.2_Silent_p.A426A|SLC8A1_ENST00000405269.1_Silent_p.A426A|SLC8A1_ENST00000403092.1_Silent_p.A426A|SLC8A1_ENST00000405901.3_Silent_p.A426A|SLC8A1_ENST00000402441.1_Silent_p.A426A P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 426 Calx-beta 1. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding p.A426A(1) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TAATGGTAAGGGCCACAGTAC 0.438000 11 111 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T G rs121912666 TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr17:7578190T>G ENST00000420246.2 - 6 791 c.659A>C c.(658-660)tAt>tCt p.Y220S TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220S|TP53_ENST00000455263.2_Missense_Mutation_p.Y220S|TP53_ENST00000445888.2_Missense_Mutation_p.Y220S|TP53_ENST00000269305.4_Missense_Mutation_p.Y220S|TP53_ENST00000413465.2_Missense_Mutation_p.Y220S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 220 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGGCGGCTCATAGGGCACCAC 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 29 4 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 4 108 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95514963 95514963 + RNA SNP G G A rs114749649 by1000genomes TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr2:95514963G>A ENST00000432432.2 - 0 694 NR_040113.1 GCCTATCAACGGCATGTGTAC 0.328000 4 131 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78212571 78212571 + RNA SNP G G A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr15:78212571G>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCTGTGTCACGTGTGCGTTCA 0.572000 4 32 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135475715 135475715 + Missense_Mutation SNP G G A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chrX:135475715G>A ENST00000394143.1 + 18 8347 c.8056G>A c.(8056-8058)Gcc>Acc p.A2686T GPR112_ENST00000394141.1_Missense_Mutation_p.A2481T|GPR112_ENST00000370652.1_Missense_Mutation_p.A2686T|GPR112_ENST00000287534.4_Missense_Mutation_p.A2439T|GPR112_ENST00000412101.1_Missense_Mutation_p.A2481T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2686 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AGTTCACTGTGCCTTTTGGGA 0.358000 3 8 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5708651 5708651 + Splice_Site SNP C C G TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr12:5708651C>G ENST00000546188.1 - 21 2306 c.2236_splice c.e21+1 p.M745_splice ANO2_ENST00000327087.8_Splice_Site_p.M744_splice|ANO2_ENST00000356134.5_Splice_Site_p.M745_splice Q9NQ90 ANO2_HUMAN anoctamin 2 749 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 GGTTCTCACTCATTTCCATGT 0.542000 18 204 0 0 1 0 0 IPO8 10526 broad.mit.edu 37 12 30834617 30834617 + Missense_Mutation SNP A A T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr12:30834617A>T ENST00000256079.4 - 4 796 c.458T>A c.(457-459)cTg>cAg p.L153Q NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 153 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CAGTTGATACAGGCATAATAA 0.423000 14 86 0 0 1 0 0 ZXDB 158586 broad.mit.edu 37 X 57619818 57619818 + Missense_Mutation SNP G G A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chrX:57619818G>A ENST00000374888.1 + 1 1550 c.1337G>A c.(1336-1338)cGg>cAg p.R446Q NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 446 Required for interaction with ZXDC (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 ATTCACCTGCGGAGTCACACC 0.488000 18 47 0 0 1 0 0 GPRC5A 0 broad.mit.edu 37 12 13061636 13061636 + Silent SNP A A G TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr12:13061636A>G ENST00000014914.5 + 2 1343 c.453A>G c.(451-453)gaA>gaG p.E151E GPRC5A_ENST00000542056.1_Intron NM_003979.3 NP_003970.1 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, member A 151 cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) TCGCTATTGAATATATTGTCC 0.527000 204 131 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2537800 2537800 + Missense_Mutation SNP C C G TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr1:2537800C>G ENST00000288709.6 - 8 850 c.610G>C c.(610-612)Gag>Cag p.E204Q MMEL1_ENST00000378412.3_Missense_Mutation_p.E213Q|MMEL1_ENST00000502556.1_Intron NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 213 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) AGCTCCCACTCGAGTCCTGGG 0.657000 10 22 0 0 1 0 0 MTHFD2L 441024 broad.mit.edu 37 4 75065519 75065519 + Missense_Mutation SNP G G C TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr4:75065519G>C ENST00000395759.2 + 4 487 c.460G>C c.(460-462)Gat>Cat p.D154H MTHFD2L_ENST00000331145.6_Missense_Mutation_p.D96H|MTHFD2L_ENST00000433372.1_Missense_Mutation_p.D19H|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.D96H NM_001144978.1 NP_001138450.1 Q9H903 MTD2L_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like 96 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) AGACCACGTTGATGAGCGAAC 0.313000 17 39 0 0 1 0 0 OR12D2 26529 broad.mit.edu 37 6 29365088 29365088 + Silent SNP T T C rs144790258 by1000genomes TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr6:29365088T>C ENST00000383555.2 + 1 673 c.612T>C c.(610-612)atT>atC p.I204I OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 CGGGGACAATTGCCATGGGCC 0.443000 6 133 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194181555 194181555 + Silent SNP A A G TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr3:194181555A>G ENST00000439040.1 - 4 848 c.57T>C c.(55-57)atT>atC p.I19I ATP13A3_ENST00000256031.4_Silent_p.I19I Q9H7F0 AT133_HUMAN ATPase type 13A3 19 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TGTAACCATAAATCTCCTGCA 0.403000 14 104 0 0 1 0 0 CCDC115 84317 broad.mit.edu 37 2 131099731 131099731 + Silent SNP C C T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr2:131099731C>T ENST00000437688.2 - 1 180 c.72G>A c.(70-72)agG>agA p.R24R CCDC115_ENST00000259229.2_5'UTR|CCDC115_ENST00000409127.1_Silent_p.R24R Q96NT0 CC115_HUMAN coiled-coil domain containing 115 0 endosome|lysosome central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 7 Colorectal(110;0.1) CCACCTTCTTCCTTGTCACCC 0.627000 5 8 0 0 1 0 0 PRDM11 56981 broad.mit.edu 37 11 45203391 45203391 + Missense_Mutation SNP C C G TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr11:45203391C>G ENST00000263765.4 + 3 425 c.176C>G c.(175-177)aCg>aGg p.T59R PRDM11_ENST00000530656.1_Missense_Mutation_p.T59R|PRDM11_ENST00000424263.2_Missense_Mutation_p.T25R Q9NQV5 PRD11_HUMAN PR domain containing 11 59 KTEVCSPLRD -> NPS (in Ref. 1; AAF87244). endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 GTGGTGAAGACGGAGGTCTGC 0.622000 33 7 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070116 141070116 + RNA SNP G G A rs142836124 by1000genomes TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr9:141070116G>A ENST00000503395.1 + 0 1196 p.R77H(1) GACTCTGTGCGCTCGGGGCCC 0.687000 4 81 0 0 1 0 0 CCDC66 285331 broad.mit.edu 37 3 56647723 56647723 + Missense_Mutation SNP G G T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr3:56647723G>T ENST00000394672.3 + 11 1581 c.1511G>T c.(1510-1512)cGt>cTt p.R504L CCDC66_ENST00000436465.2_Missense_Mutation_p.R504L|CCDC66_ENST00000326595.7_Missense_Mutation_p.R470L NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 504 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) GCACAGGAACGTGAAGAGATG 0.398000 39 41 9.8876e-21 1.11478e-20 1 1 0 ANKRD20A5P 0 broad.mit.edu 37 18 14184263 14184263 + RNA SNP G G A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr18:14184263G>A ENST00000581935.1 + 0 952 lung(3) 3 TACTTTTAAAGGAGCATTAAA 0.264000 5 20 0 0 1 0 0 AGAP5 729092 broad.mit.edu 37 10 75457378 75457378 + Missense_Mutation SNP C C T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr10:75457378C>T ENST00000443782.2 - 1 261 c.136G>A c.(136-138)Gct>Act p.A46T AGAP5_ENST00000374094.4_Missense_Mutation_p.A46T|RP11-464F9.1_ENST00000399449.3_RNA A6NIR3 AGAP5_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 46 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1) 12 ACAGCAGCAGCCATGGGCGCT 0.582000 29 119 0 0 1 0 0 HIST1H2AB 8335 broad.mit.edu 37 6 26033563 26033563 + Silent SNP G G A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr6:26033563G>A ENST00000259791.2 - 1 233 c.234C>T c.(232-234)cgC>cgT p.R78R NM_003513.2 NP_003504.2 P04908 H2A1B_HUMAN histone cluster 1, H2ab 78 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 GCGGGATGATGCGGGTCTTCT 0.622000 34 106 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234847659 234847659 + Nonsense_Mutation SNP C C A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr2:234847659C>A ENST00000324695.4 + 5 406 c.366C>A c.(364-366)tgC>tgA p.C122* TRPM8_ENST00000409625.1_Nonsense_Mutation_p.C45*|TRPM8_ENST00000355722.4_Nonsense_Mutation_p.C72*|TRPM8_ENST00000433712.2_5'UTR NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 122 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GTCTGTCCTGCGACACGGACG 0.547000 54 27 3.16986e-14 3.53917e-14 1 1 0 SNTA1 6640 broad.mit.edu 37 20 31996508 31996508 + Splice_Site SNP A A T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr20:31996508A>T ENST00000217381.2 - 7 1695 c.1425_splice c.e7+1 p.I475_splice NM_003098.2 NP_003089.1 Q13424 SNTA1_HUMAN syntrophin, alpha 1 475 SU. muscle contraction cell junction|cytoplasm|cytoskeleton|sarcolemma actin binding|calmodulin binding breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1) 13 CTCACTCACGATCTCGCCTTC 0.622000 6 226 0 0 1 0 0 AZI1 22994 broad.mit.edu 37 17 79180597 79180597 + Silent SNP C C T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr17:79180597C>T ENST00000269392.4 - 5 709 c.462G>A c.(460-462)ccG>ccA p.P154P AZI1_ENST00000374782.3_Silent_p.P154P|AZI1_ENST00000575907.1_Silent_p.P154P|AZI1_ENST00000450824.2_Silent_p.P154P NM_014984.2 NP_055799.2 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 154 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CTTTCCTCCGCGGGCCCGCTG 0.632000 9 72 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73811853 73811853 + Missense_Mutation SNP A A C TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chrX:73811853A>C ENST00000332687.6 - 4 1515 c.1297T>G c.(1297-1299)Tca>Gca p.S433A RLIM_ENST00000349225.2_Missense_Mutation_p.S433A NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 433 Ser-rich. random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTTCGATTTGAGACTGAGCCA 0.458000 28 12 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52320720 52320720 + Missense_Mutation SNP T T A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr8:52320720T>A ENST00000356297.4 - 17 3564 c.3464A>T c.(3463-3465)gAc>gTc p.D1155V PXDNL_ENST00000543296.1_Missense_Mutation_p.D1155V NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1155 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AACTCTGAAGTCAACATATGG 0.433000 24 85 0 0 1 0 0 RP11-262H14.1 0 broad.mit.edu 37 9 66459863 66459863 + RNA SNP G G A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr9:66459863G>A ENST00000424345.1 + 0 123 tttcctggatggtgttgatgc 0.363000 3 7 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109398713 109398713 + Missense_Mutation SNP A A G TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr2:109398713A>G ENST00000283195.6 + 27 9016 c.8890A>G c.(8890-8892)Aca>Gca p.T2964A NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2964 RanBD1 4. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TCTTTGGCATACAATGAAGAA 0.373000 20 26 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511283 195511283 + Missense_Mutation SNP C C T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr3:195511283C>T ENST00000463781.3 - 2 7627 c.7168G>A c.(7168-7170)Gct>Act p.A2390T MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A2390T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 148 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.A2390T(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GCTGAGGAAGCGTCGGTGACA 0.592000 4 31 0 0 1 0 0 TMEM185B 79134 broad.mit.edu 37 2 120980196 120980196 + Silent SNP G G C TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr2:120980196G>C ENST00000426077.2 - 1 788 c.357C>G c.(355-357)ctC>ctG p.L119L NM_024121.2 NP_077026.2 Q9H7F4 T185B_HUMAN transmembrane protein 185B 119 integral to membrane ACACGAAGAAGAGAGGCATGA 0.612000 7 4 0 0 1 0 0 BPIFC 254240 broad.mit.edu 37 22 32843231 32843231 + Translation_Start_Site SNP G G C TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr22:32843231G>C ENST00000534972.1 - 0 467 BPIFC_ENST00000397452.1_Missense_Mutation_p.I114M|BPIFC_ENST00000300399.3_Missense_Mutation_p.I114M|BPIFC_ENST00000432451.2_De_novo_Start_OutOfFrame Q8NFQ6 BPIL2_HUMAN BPI fold containing family C extracellular region lipopolysaccharide binding|phospholipid binding AGTCTGTGCTGATGTTGGCAG 0.443000 7 81 0 0 1 0 0 SSTR4 6754 broad.mit.edu 37 20 23016960 23016960 + Silent SNP G G C TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr20:23016960G>C ENST00000255008.3 + 1 904 c.840G>C c.(838-840)ctG>ctC p.L280L RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 280 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) TGGTGCAGCTGCTGAACCTCT 0.572000 20 128 0 0 1 0 0 TNFRSF14 8764 broad.mit.edu 37 1 2492102 2492102 + Missense_Mutation SNP C C T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr1:2492102C>T ENST00000355716.4 + 5 799 c.500C>T c.(499-501)cCg>cTg p.P167L TNFRSF14_ENST00000409119.1_Missense_Mutation_p.P167L NM_003820.2 NP_003811.2 Q92956 TNR14_HUMAN tumor necrosis factor receptor superfamily, member 14 167 immune response|interspecies interaction between organisms|T cell costimulation tumor necrosis factor receptor activity kidney(1) 1 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199) AACTGCCCCCCGGGGACCTTC 0.672000 """Mis, N, F""" follicular lymphoma 20 14 0 0 1 0 0 ABCD2 225 broad.mit.edu 37 12 40012651 40012651 + Missense_Mutation SNP G G T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr12:40012651G>T ENST00000308666.3 - 1 902 c.767C>A c.(766-768)cCc>cAc p.P256H NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 256 ABC transmembrane type-1. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 TAGTAGGGTGGGCCCAATTGG 0.448000 55 51 1.39843e-22 1.59227e-22 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625955 29625955 + Nonsense_Mutation SNP A A T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr20:29625955A>T ENST00000278882.3 + 5 579 c.199A>T c.(199-201)Aga>Tga p.R67* FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATTGGACCAAGAGAACAATG 0.338000 7 95 0 0 1 0 0 TNKS 8658 broad.mit.edu 37 8 9588536 9588536 + Missense_Mutation SNP A A C TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr8:9588536A>C ENST00000310430.6 + 14 2164 c.2138A>C c.(2137-2139)aAa>aCa p.K713T TNKS_ENST00000518281.1_Missense_Mutation_p.K476T NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 713 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) GTCCATGCCAAAGACAAGGGG 0.438000 7 31 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32029445 32029445 + Missense_Mutation SNP C C A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr6:32029445C>A ENST00000375244.3 - 21 7422 c.7221G>T c.(7219-7221)gaG>gaT p.E2407D TNXB_ENST00000375247.2_Missense_Mutation_p.E2407D P22105 TENX_HUMAN tenascin XB 2467 Fibronectin type-III 16. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCTCAGGGGGCTCCGGGGCCT 0.657000 5 102 0.00116845 0.00121055 1 1 0 GRM7 2917 broad.mit.edu 37 3 7456839 7456839 + Missense_Mutation SNP G G A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr3:7456839G>A ENST00000486284.1 + 5 1437 c.1163G>A c.(1162-1164)cGc>cAc p.R388H GRM7_ENST00000402647.2_Missense_Mutation_p.R388H|GRM7_ENST00000403881.1_Missense_Mutation_p.R388H|GRM7_ENST00000357716.4_Missense_Mutation_p.R388H|GRM7_ENST00000389336.4_Missense_Mutation_p.R388H NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 388 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding p.R388P(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GACACAGATCGCAAATGCACA 0.423000 19 21 0 0 1 0 0 KLK2 3817 broad.mit.edu 37 19 51381707 51381707 + Missense_Mutation SNP C C G TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr19:51381707C>G ENST00000325321.3 + 5 903 c.678C>G c.(676-678)atC>atG p.I226M KLK2_ENST00000391810.2_Missense_Mutation_p.I124M|KLK2_ENST00000358049.4_3'UTR P20151 KLK2_HUMAN kallikrein-related peptidase 2 226 Peptidase S1. proteolysis serine-type endopeptidase activity KLK2/ETV1(3)|KLK2/ETV4(2) large_intestine(3)|lung(6)|ovary(1)|skin(1) 11 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871) TTCAAGGTATCACATCATGGG 0.532000 T ETV4 prostate 54 103 0 0 1 0 0 PIK3C3 5289 broad.mit.edu 37 18 39573236 39573236 + Missense_Mutation SNP C C G TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr18:39573236C>G ENST00000262039.4 + 7 803 c.717C>G c.(715-717)gaC>gaG p.D239E PIK3C3_ENST00000398870.3_Missense_Mutation_p.D176E NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 239 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 TAATCTAGGACGGTGATGAAT 0.284000 TSP Lung(28;0.18) 6 31 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56490829 56490829 + Splice_Site SNP C C T TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr12:56490829C>T ENST00000267101.3 + 20 2715 c.2274_splice c.e20-1 p.H759_splice ERBB3_ENST00000553131.1_5'UTR|ERBB3_ENST00000450146.2_Splice_Site_p.H116_splice|ERBB3_ENST00000415288.2_Splice_Site_p.H700_splice NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 759 Protein kinase. cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TGTCTCTTAGCATATGCTGGC 0.527000 35 39 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44075093 44075093 + Silent SNP G G C TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr1:44075093G>C ENST00000359947.4 + 22 4237 c.3897G>C c.(3895-3897)tcG>tcC p.S1299S PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.S1290S|PTPRF_ENST00000422171.2_Silent_p.S647S|PTPRF_ENST00000372414.3_Silent_p.S1299S|PTPRF_ENST00000438120.1_Silent_p.S1290S NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1299 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ATGAGCAGTCGATCGGACTGA 0.577000 5 32 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52715971 52715971 + Missense_Mutation SNP C C G TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr19:52715971C>G ENST00000322088.6 + 5 594 c.536C>G c.(535-537)cCc>cGc p.P179R PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R|PPP2R1A_ENST00000462990.1_5'UTR NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 179 PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity p.P179R(21)|p.P179L(5) NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) GATGACACCCCCATGGTGCGG 0.612000 Mis clear cell ovarian carcinoma 13 38 0 0 1 0 0 GUSBP1 0 broad.mit.edu 37 5 21497311 21497311 + RNA SNP C C T rs138516990 by1000genomes TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr5:21497311C>T ENST00000607545.1 + 0 179 NR_027026.1 ACCAGGTAAGCGGTGTTGAAC 0.537000 8 10 0 0 1 0 0 LIMK2 3985 broad.mit.edu 37 22 31658195 31658195 + Silent SNP G G A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr22:31658195G>A ENST00000331728.4 + 6 741 c.627G>A c.(625-627)ggG>ggA p.G209G LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Silent_p.G188G|LIMK2_ENST00000406516.1_Silent_p.G131G|LIMK2_ENST00000340552.4_Silent_p.G188G NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 209 PDZ. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 AGATCAATGGGACCCCCGTCC 0.557000 27 91 0 0 1 0 0 NARF 26502 broad.mit.edu 37 17 80445875 80445875 + Missense_Mutation SNP G G A TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr17:80445875G>A ENST00000390006.4 + 11 1510 c.1036G>A c.(1036-1038)Gct>Act p.A346T NARF_ENST00000345415.7_Missense_Mutation_p.A357T|NARF_ENST00000309794.10_Missense_Mutation_p.A405T|NARF_ENST00000457415.3_Missense_Mutation_p.A451T NM_001038618.2 NP_001033707.1 Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor 405 lamin filament lamin binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) AGGCATTTACGCTGACATCCC 0.592000 10 51 0 0 1 0 0 CCDC30 728621 broad.mit.edu 37 1 43002200 43002201 + Frame_Shift_Del DEL AG AG - TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr1:43002200_43002201delAG ENST00000428554.2 + 9 1188_1189 c.45_46delAG c.(43-48)aaagfs p.KE15fs CCDC30_ENST00000340612.4_Frame_Shift_Del_p.KE15fs|CCDC30_ENST00000342022.4_Frame_Shift_Del_p.KE15fs|CCDC30_ENST00000507855.1_Intron Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 15 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 AGTGGTCAAAAGAGAGAGAGAG 0.356 7 59 --- --- --- --- RP11-86H7.1 0 broad.mit.edu 37 1 95273518 95273518 + RNA DEL C C - TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr1:95273518delC ENST00000452922.1 - 0 326 atcagcctggccaatgtggtg 0.542 2 4 --- --- --- --- SLAMF6 114836 broad.mit.edu 37 1 160466086 160466088 + In_Frame_Del DEL CTT CTT - TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr1:160466086_160466088delCTT ENST00000368059.3 - 2 214_216 c.145_147delAAG c.(145-147)del p.K49del SLAMF6_ENST00000368057.3_In_Frame_Del_p.K49del|SLAMF6_ENST00000368055.1_Intron NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 49 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) TGAAGTTGACCTTCTCTCCTGCA 0.458 96 194 --- --- --- --- CTSE 1510 broad.mit.edu 37 1 206318413 206318414 + Frame_Shift_Ins INS - - GA TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr1:206318413_206318414insGA ENST00000361052.3 + 2 289_290 c.171_172insGA c.(169-174)acagtcfs p.V58fs CTSE_ENST00000360218.2_Frame_Shift_Ins_p.V58fs|CTSE_ENST00000432969.2_Intron|CTSE_ENST00000358184.2_Frame_Shift_Ins_p.V58fs P14091 CATE_HUMAN cathepsin E 58 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3) 16 BRCA - Breast invasive adenocarcinoma(75;0.0754) TCCAGTTCACCGAGTCCTGCTC 0.584 39 75 --- --- --- --- SUSD4 55061 broad.mit.edu 37 1 223396671 223396671 + Frame_Shift_Del DEL G G - TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr1:223396671delG ENST00000343846.3 - 7 1997 c.1364delC c.(1363-1365)ctfs p.P455fs SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_Frame_Shift_Del_p.P295fs|SUSD4_ENST00000366878.4_Frame_Shift_Del_p.P455fs Q5VX71 SUSD4_HUMAN sushi domain containing 4 455 integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) GTCCGAAGCAGGGTGGGTGCT 0.587 13 120 --- --- --- --- AC074391.1 0 broad.mit.edu 37 2 65894933 65894933 + RNA DEL A A - TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr2:65894933delA ENST00000377977.3 + 0 862 TCAGAGGTTTAAAAAAAAAAA 0.517 3 3 --- --- --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 2 4 --- --- --- --- TANC1 85461 broad.mit.edu 37 2 160031574 160031598 + Frame_Shift_Del DEL CAGAGACCTTCTGATAAAGGAGCCC CAGAGACCTTCTGATAAAGGAGCCC - TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr2:160031574_160031598delCAGAGACCTTCTGATAAAGGAGCCC ENST00000263635.6 + 12 1851_1875 c.1614_1638delCAGAGACCTTCTGATAAAGGAGCCC c.(1612-1638)tafs p.YRDLLIKEP538fs TANC1_ENST00000454300.1_Frame_Shift_Del_p.YRDLLIKEP432fs NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 538 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 TGGCCGCCTACAGAGACCTTCTGATAAAGGAGCCCCAACTACAGA 0.573 20 133 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217832850 217832850 + RNA DEL C C - TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr2:217832850delC ENST00000447289.1 + 0 510 AC007563.5_ENST00000607591.1_RNA ATGGGGCAGGCCCTGCAGGAA 0.557 2 4 --- --- --- --- ATP2B2 491 broad.mit.edu 37 3 10452444 10452444 + Frame_Shift_Del DEL G G - TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr3:10452444delG ENST00000397077.1 - 5 830 c.255delC c.(253-255)aafs p.N85fs ATP2B2_ENST00000383800.4_Frame_Shift_Del_p.N85fs|ATP2B2_ENST00000360273.2_Frame_Shift_Del_p.N85fs|ATP2B2_ENST00000352432.4_Frame_Shift_Del_p.N85fs|ATP2B2_ENST00000343816.4_Frame_Shift_Del_p.N85fs Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 85 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 GAGGTATAAAGTTTTGCCCAA 0.547 8 385 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68400387 68400387 + RNA DEL C C - rs111626719 TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr9:68400387delC ENST00000417843.2 - 0 1432 GATCTGGGGTCCTCTGATGAG 0.542 4 8 --- --- --- --- FRMD3 257019 broad.mit.edu 37 9 85924485 85924485 + Frame_Shift_Del DEL A A - TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr9:85924485delA ENST00000304195.3 - 10 1098 c.892delT c.(892-894)ggfs p.W298fs FRMD3_ENST00000376438.1_Frame_Shift_Del_p.W298fs|FRMD3_ENST00000376434.1_Frame_Shift_Del_p.W104fs NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 298 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 CCACACTTCCAAAGATGTTTG 0.338 9 9 --- --- --- --- MRVI1 10335 broad.mit.edu 37 11 10625994 10625996 + In_Frame_Del DEL CTC CTC - TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr11:10625994_10625996delCTC ENST00000547195.1 - 12 1926_1928 c.1426_1428delGAG c.(1426-1428)del p.E476del MRVI1_ENST00000527509.2_In_Frame_Del_p.E476del|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000531107.1_In_Frame_Del_p.E559del|MRVI1_ENST00000558540.1_In_Frame_Del_p.E252del|MRVI1_ENST00000424001.1_In_Frame_Del_p.E252del|MRVI1_ENST00000552103.1_In_Frame_Del_p.E476del|MRVI1_ENST00000421747.1_In_Frame_Del_p.E558del|MRVI1_ENST00000534266.2_In_Frame_Del_p.E252del|MRVI1_ENST00000545852.1_In_Frame_Del_p.E252del|MRVI1_ENST00000436272.1_In_Frame_Del_p.E540del|MRVI1_ENST00000541483.1_In_Frame_Del_p.E361del|MRVI1_ENST00000423302.2_In_Frame_Del_p.E567del NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 540 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TCTCAGTGTTCTCCTCTGTCAGG 0.473 45 13 --- --- --- --- C3AR1 719 broad.mit.edu 37 12 8211663 8211663 + Frame_Shift_Del DEL G G - TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr12:8211663delG ENST00000307637.4 - 2 1322 c.1119delC c.(1117-1119)agfs p.S373fs NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 373 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) GAAAGGTTTTGCTCTGAGACT 0.512 64 47 --- --- --- --- RP11-67H24.2 0 broad.mit.edu 37 16 32823257 32823257 + RNA DEL T T - TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr16:32823257delT ENST00000569859.1 + 0 373 CGGCGGCGGGTGGGTGGCAGA 0.731 2 4 --- --- --- --- GHDC 84514 broad.mit.edu 37 17 40345560 40345562 + In_Frame_Del DEL GCA GCA - TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr17:40345560_40345562delGCA ENST00000301671.8 - 2 479_481 c.38_40delTGC c.(37-42)cca>c p.LP13del GHDC_ENST00000436923.2_In_Frame_Del_p.LP13del|GHDC_ENST00000414034.3_In_Frame_Del_p.LP13del|GHDC_ENST00000428494.2_In_Frame_Del_p.LP13del|GHDC_ENST00000587427.1_In_Frame_Del_p.LP13del|GHDC_ENST00000590520.1_5'UTR|GHDC_ENST00000593209.1_In_Frame_Del_p.LP13del Q8N2G8 GHDC_HUMAN GH3 domain containing 13 endoplasmic reticulum|nuclear envelope central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) GCCAATGTTGgcagcagcagcag 0.631 2 4 --- --- --- --- ZNF335 63925 broad.mit.edu 37 20 44592260 44592260 + Frame_Shift_Del DEL A A - TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr20:44592260delA ENST00000322927.2 - 9 1485 c.1385delT c.(1384-1386)tgfs p.L462fs ZNF335_ENST00000426788.1_Frame_Shift_Del_p.L307fs NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) GAAGGGCCTCAAAAGTGGTTT 0.577 30 308 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11055420 11055420 + RNA DEL G G - TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr21:11055420delG ENST00000470054.1 - 0 487 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) cacagctactgctctgccctt 0.308 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11064287 11064288 + RNA INS - - A rs55767427 TCGA-N5-A59E-01A-11D-A28R-08 TCGA-N5-A59E-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1c40f05-739b-47fb-8438-96d08cb942a3 5d62f932-3092-433a-801e-cb91dcc91ee2 g.chr21:11064287_11064288insA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCTTCCACAGCAATCTTTCTAA 0.416 4 6 --- --- --- ---