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 MSC 9242 broad.mit.edu 37 8 72756001 72756001 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:72756001G>C ENST00000325509.4 - 1 702 c.413C>G c.(412-414)cCc>cGc p.P138R RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron NM_005098.3 NP_005089.2 O60682 MUSC_HUMAN musculin 138 Helix-loop-helix motif. transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2) 26 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) AGTGTCGGGGGGCACCCAGGG 0.652000 OREG0018826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 73 0 0 0.000978 0 0 ZNF543 125919 broad.mit.edu 37 19 57839478 57839478 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:57839478G>C ENST00000321545.4 + 4 993 c.648G>C c.(646-648)caG>caC p.Q216H NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 216 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCCTTGTTCAGCATGAACGGA 0.438000 21 60 0 0 0.001882 0 0 APLF 200558 broad.mit.edu 37 2 68753263 68753263 + Silent SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:68753263A>G ENST00000303795.4 + 6 864 c.693A>G c.(691-693)caA>caG p.Q231Q NM_173545.2 NP_775816.1 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 231 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 CAACCCAGCAAGGAAGAAGGC 0.363000 14 61 0 0 0.002450 0 0 RXFP3 51289 broad.mit.edu 37 5 33938224 33938224 + Missense_Mutation SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:33938224A>T ENST00000330120.3 + 1 1734 c.1379A>T c.(1378-1380)tAc>tTc p.Y460F NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 460 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 GGGGGGCGCTACGACCTGCTG 0.726000 4 40 0 0 0.000248 0 0 C20orf26 26074 broad.mit.edu 37 20 20258060 20258060 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:20258060C>A ENST00000245957.5 + 22 2830 c.2754C>A c.(2752-2754)gcC>gcA p.A918A C20orf26_ENST00000377309.2_Silent_p.A274A NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 918 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) TCTACAGCGCCTCCTTCACCA 0.622000 8 111 0.000274275 0.000456617 0.004482 1 0 SEMA6A 57556 broad.mit.edu 37 5 115782644 115782644 + Missense_Mutation SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:115782644A>T ENST00000343348.6 - 19 3545 c.2758T>A c.(2758-2760)Tac>Aac p.Y920N SEMA6A_ENST00000257414.8_Missense_Mutation_p.Y937N|SEMA6A_ENST00000282394.6_Missense_Mutation_p.Y397N|SEMA6A_ENST00000510263.1_Missense_Mutation_p.Y920N|SEMA6A_ENST00000503865.1_Missense_Mutation_p.Y299N|SEMA6A_ENST00000513137.1_Missense_Mutation_p.Y347N NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 920 apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) TTCGTGGGGTAGCTCCTCTTA 0.562000 9 55 0 0 0.006214 0 0 FSCB 84075 broad.mit.edu 37 14 44975841 44975841 + Missense_Mutation SNP A A C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr14:44975841A>C ENST00000340446.4 - 1 641 c.350T>G c.(349-351)aTt>aGt p.I117S NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 117 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) GTTTGGTGGAATTTCTACATC 0.433000 6 195 0 0 0.001168 0 0 OTUD6A 139562 broad.mit.edu 37 X 69283039 69283039 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:69283039T>A ENST00000338352.2 + 1 699 c.665T>A c.(664-666)cTg>cAg p.L222Q NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 222 OTU. autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 CAGCTGGAGCTGAGGGCCCTG 0.612000 14 23 0 0 0.003163 0 0 GCC1 79571 broad.mit.edu 37 7 127223156 127223156 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:127223156T>A ENST00000321407.2 - 2 1664 c.1240A>T c.(1240-1242)Agc>Tgc p.S414C GCC1_ENST00000497650.1_5'UTR NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 414 Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GGGGACCTGCTGGAGGCTGCT 0.552000 12 100 0 0 0.001855 0 0 DROSHA 29102 broad.mit.edu 37 5 31448686 31448686 + Silent SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:31448686T>C ENST00000511367.2 - 22 3094 c.2850A>G c.(2848-2850)tcA>tcG p.S950S DROSHA_ENST00000344624.3_Silent_p.S950S|DROSHA_ENST00000442743.1_Silent_p.S913S|DROSHA_ENST00000513349.1_Silent_p.S913S NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 950 Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 GGCCAAGGCGTGACATGATAT 0.313000 5 78 0 0 0.000602 0 0 OR14C36 127066 broad.mit.edu 37 1 248512576 248512576 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:248512576G>T ENST00000317861.1 + 1 500 c.500G>T c.(499-501)tGt>tTt p.C167F NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 CTGCCCTTCTGTCGGTCCAAC 0.502000 8 77 0.000157383 0.000267462 0.003080 1 0 KIAA1244 57221 broad.mit.edu 37 6 138610962 138610962 + Silent SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:138610962A>G ENST00000251691.4 + 18 3070 c.2904A>G c.(2902-2904)ctA>ctG p.L968L NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 968 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CAGTGAAACTAAAAGTGGAGC 0.478000 6 17 0 0 0.001168 0 0 MRPL43 84545 broad.mit.edu 37 10 102747076 102747076 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr10:102747076C>T ENST00000318325.2 - 1 178 c.125G>A c.(124-126)gGc>gAc p.G42D MRPL43_ENST00000477279.1_Missense_Mutation_p.G42D|MRPL43_ENST00000370242.4_Missense_Mutation_p.G42D|MRPL43_ENST00000370234.4_Missense_Mutation_p.G42D|MRPL43_ENST00000370236.1_Missense_Mutation_p.G42D|MRPL43_ENST00000370241.3_Missense_Mutation_p.G42D|MRPL43_ENST00000342071.1_Missense_Mutation_p.G42D|MRPL43_ENST00000318364.8_Missense_Mutation_p.G42D|MRPL43_ENST00000299179.5_Missense_Mutation_p.G42D NM_176792.2 NP_789762.1 Q8N983 RM43_HUMAN mitochondrial ribosomal protein L43 42 translation mitochondrial ribosome protein binding|structural constituent of ribosome endometrium(1)|skin(2)|upper_aerodigestive_tract(1) 4 Colorectal(252;0.234) Epithelial(162;6.21e-09)|all cancers(201;3.14e-07) TCACCTGGCGCCGCGAGACGA 0.682000 4 27 0 0 0.000248 0 0 SCN3A 6328 broad.mit.edu 37 2 165947652 165947652 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:165947652T>C ENST00000360093.3 - 28 5502 c.5011A>G c.(5011-5013)Atc>Gtc p.I1671V SCN3A_ENST00000283254.7_Missense_Mutation_p.I1671V|SCN3A_ENST00000540861.1_Missense_Mutation_p.I154V|SCN3A_ENST00000409101.3_Missense_Mutation_p.I1622V|AC013463.2_ENST00000431341.1_RNA NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1671 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) ATCCCAAAGATGGCATAGATA 0.458000 20 128 0 0 0.008871 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823007 38823007 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr22:38823007C>A ENST00000303592.3 - 2 1389 c.1131G>T c.(1129-1131)ctG>ctT p.L377L RP3-434P1.6_ENST00000433230.1_RNA NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 377 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) TCATAAGGGCCAGCTCGTTCT 0.701000 5 70 0.00198382 0.00319043 0.001984 1 0 KDM2A 22992 broad.mit.edu 37 11 66985245 66985245 + Missense_Mutation SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:66985245A>G ENST00000529006.2 + 9 1177 c.731A>G c.(730-732)tAc>tGc p.Y244C KDM2A_ENST00000398645.2_Missense_Mutation_p.Y244C|KDM2A_ENST00000526258.1_3'UTR NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 244 JmjC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm 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|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 CTGGAGCTGTACGAGAATTGG 0.512000 6 19 0 0 0.001168 0 0 ARHGEF25 115557 broad.mit.edu 37 12 58006766 58006766 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:58006766G>T ENST00000286494.4 + 2 611 c.151G>T c.(151-153)Ggt>Tgt p.G51C AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.G90C NM_182947.3 NP_891992.2 Q86VW2 ARHGP_HUMAN Rho guanine nucleotide exchange factor (GEF) 25 51 regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 28 TGCTGCCTCCGGTCTGGCTGC 0.622000 10 74 5.50884e-06 1.00659e-05 0.001368 1 0 UNC5A 90249 broad.mit.edu 37 5 176295216 176295216 + Nonsense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:176295216C>A ENST00000329542.4 + 3 652 c.378C>A c.(376-378)tgC>tgA p.C126* UNC5A_ENST00000261961.3_Nonsense_Mutation_p.C86* NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 126 Ig-like. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGTGCCAGTGCGTGGCATGGA 0.652000 23 102 2.79863e-10 6.0047e-10 0.004656 1 0 SYCP2L 221711 broad.mit.edu 37 6 10961580 10961580 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:10961580G>C ENST00000283141.6 + 27 2594 c.2298G>C c.(2296-2298)gaG>gaC p.E766D NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 766 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TTCTTCAAGAGTTGAGCAGTC 0.393000 4 34 0 0 0.000248 0 0 TTLL9 164395 broad.mit.edu 37 20 30525240 30525240 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:30525240G>A ENST00000375938.4 + 13 1299 c.1046G>A c.(1045-1047)aGc>aAc p.S349N TTLL9_ENST00000310998.4_Missense_Mutation_p.S314N|TTLL9_ENST00000375922.4_Missense_Mutation_p.S291N|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000375921.2_Silent_p.Q225Q|TTLL9_ENST00000535842.1_Missense_Mutation_p.S349N Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 349 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CTGACAGCCAGCAGCCAGGAA 0.582000 8 41 0 0 0.004482 0 0 LILRB3 11025 broad.mit.edu 37 19 54725719 54725719 + Silent SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:54725719G>C ENST00000391750.1 - 5 775 c.639C>G c.(637-639)ccC>ccG p.P213P LILRB3_ENST00000245620.9_Silent_p.P213P|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000346401.6_Silent_p.P213P|LILRB3_ENST00000407860.2_Silent_p.P213P|LILRB3_ENST00000424807.1_Silent_p.P213P|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 213 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GAATCTCCAGGGGGTCACTGG 0.587000 30 93 0 0 0.005524 0 0 RNF138 51444 broad.mit.edu 37 18 29704800 29704800 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr18:29704800G>A ENST00000261593.3 + 6 1011 c.553G>A c.(553-555)Gtt>Att p.V185I RNF138_ENST00000257190.5_Missense_Mutation_p.V91I NM_001191324.1|NM_016271.4 NP_001178253.2|NP_057355.2 Q8WVD3 RN138_HUMAN ring finger protein 138, E3 ubiquitin protein ligase 185 Wnt receptor signaling pathway intracellular ligase activity|protein kinase binding|zinc ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 12 ATTTCAGATAGTTCCTGTGGT 0.363000 9 25 0 0 0.004482 0 0 F2R 2149 broad.mit.edu 37 5 76029214 76029214 + Nonsense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:76029214C>A ENST00000319211.4 + 2 1429 c.1164C>A c.(1162-1164)tgC>tgA p.C388* NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 388 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) TCTTATGCTGCAAAGAAAGTT 0.443000 28 91 2.4375e-19 5.87483e-19 0.007291 1 0 ARMC9 80210 broad.mit.edu 37 2 232121319 232121319 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:232121319C>T ENST00000349938.4 + 10 1094 c.900C>T c.(898-900)gcC>gcT p.A300A ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.3 NP_001258395.1|NP_079415.3 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 300 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) TGTTACGAGCCTCCTTGGCAC 0.428000 11 38 0 0 0.001368 0 0 FAIM3 9214 broad.mit.edu 37 1 207087300 207087300 + Silent SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:207087300A>T ENST00000367091.3 - 2 320 c.177T>A c.(175-177)ggT>ggA p.G59G FAIM3_ENST00000420007.2_Silent_p.G59G|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000528654.1_Intron NM_005449.4 NP_005440.1 O60667 FAIM3_HUMAN Fas apoptotic inhibitory molecule 3 59 Ig-like. anti-apoptosis|cellular defense response integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(84;0.201) ATACCACGGTACCACATGTTC 0.512000 43 143 0 0 0.003610 0 0 MYH3 4621 broad.mit.edu 37 17 10534949 10534949 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:10534949C>A ENST00000583535.1 - 36 5352 c.5265G>T c.(5263-5265)aaG>aaT p.K1755N MYH3_ENST00000226209.7_Missense_Mutation_p.K1755N NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1755 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CCTTCTTGGCCTTCTCCTCAG 0.567000 OREG0024180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 22 1.12685e-05 2.03014e-05 0.004482 1 0 IGFBP1 3484 broad.mit.edu 37 7 45930252 45930252 + Nonsense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:45930252G>A ENST00000275525.3 + 2 751 c.455G>A c.(454-456)tGg>tAg p.W152* IGFBP1_ENST00000457280.1_Nonsense_Mutation_p.W152*|IGFBP1_ENST00000468955.1_Nonsense_Mutation_p.W152* NM_000596.2 NP_000587.1 P08833 IBP1_HUMAN insulin-like growth factor binding protein 1 152 extracellular space insulin-like growth factor binding p.W152S(1) large_intestine(2)|lung(4) 6 TCCATCCTTTGGGACGCCATC 0.537000 OREG0018048 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 105 0 0 0.001984 0 0 PRICKLE3 4007 broad.mit.edu 37 X 49033264 49033264 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:49033264C>G ENST00000376317.3 - 8 1337 c.1243G>C c.(1243-1245)Gag>Cag p.E415Q PRICKLE3_ENST00000538114.1_Intron|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.E347Q|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.E334Q NM_006150.3 NP_006141.2 O43900 PRIC3_HUMAN prickle homolog 3 (Drosophila) 415 Missing (in Ref. 5; AAB92357). protein binding|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2) 22 GGCGCTAACTCTGTGCTGGTG 0.622000 4 17 0 0 0.000248 0 0 SLC6A5 9152 broad.mit.edu 37 11 20639367 20639367 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:20639367C>T ENST00000525748.1 + 7 1470 c.1197C>T c.(1195-1197)tgC>tgT p.C399C NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 399 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) TAGCTCTCTGCCTCTTCCTGG 0.478000 7 136 0 0 0.003080 0 0 SERPINA11 256394 broad.mit.edu 37 14 94915007 94915007 + Silent SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr14:94915007G>T ENST00000334708.3 - 2 169 c.105C>A c.(103-105)ccC>ccA p.P35P RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 35 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) GATGCCTGGGGGGTTGAGGCC 0.562000 23 144 1.10923e-09 2.32447e-09 0.002780 1 0 ADAM21P1 145241 broad.mit.edu 37 14 70714365 70714365 + RNA SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr14:70714365C>A ENST00000530196.1 - 0 153 NR_003951.1 ACTAGGGTCCCATCCACTGCC 0.532000 33 83 4.31634e-10 9.17349e-10 0.002445 1 0 P2RX5-TAX1BP3 100533970 broad.mit.edu 37 17 3582905 3582905 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:3582905G>T ENST00000550383.1 - 11 1426 c.1238C>A c.(1237-1239)cCa>cAa p.P413Q P2RX5_ENST00000547178.1_Missense_Mutation_p.P412Q|P2RX5_ENST00000435558.1_Missense_Mutation_p.P413Q|P2RX5_ENST00000552276.1_Missense_Mutation_p.P412Q|P2RX5_ENST00000345901.3_Missense_Mutation_p.P389Q|P2RX5_ENST00000225328.5_Missense_Mutation_p.P413Q|P2RX5_ENST00000552050.1_Missense_Mutation_p.P353Q|P2RX5_ENST00000551178.1_Missense_Mutation_p.P388Q CAGGAGCTGTGGGCACACAGA 0.672000 8 30 0.000274275 0.000456617 0.004482 1 0 OR5M3 219482 broad.mit.edu 37 11 56237417 56237417 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:56237417G>C ENST00000312240.2 - 1 597 c.557C>G c.(556-558)gCc>gGc p.A186G NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) CCCAGCACAGGCCATTTTGAT 0.398000 24 80 0 0 0.003330 0 0 FRRS1 391059 broad.mit.edu 37 1 100176440 100176440 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:100176440C>A ENST00000414213.1 - 15 2147 c.1546G>T c.(1546-1548)Gca>Tca p.A516S FRRS1_ENST00000287474.5_Missense_Mutation_p.A516S Q6ZNA5 FRRS1_HUMAN ferric-chelate reductase 1 516 Cytochrome b561. electron transport chain|transport integral to membrane ferric-chelate reductase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 26 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) CCGGTCATTGCATAGGTTTTC 0.438000 5 52 3.59834e-05 6.30586e-05 0.001168 1 0 AGBL2 79841 broad.mit.edu 37 11 47707521 47707521 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:47707521C>A ENST00000525123.1 - 11 1997 c.1712G>T c.(1711-1713)tGt>tTt p.C571F AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.C571F|AGBL2_ENST00000528244.1_Missense_Mutation_p.C533F|AGBL2_ENST00000298861.4_Missense_Mutation_p.C571F NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 571 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 GTTGTTATTACAGCCATACAG 0.368000 17 66 3.41278e-10 7.27036e-10 0.004990 1 0 RNF213 57674 broad.mit.edu 37 17 78318885 78318885 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:78318885C>T ENST00000582970.1 + 29 6893 c.6750C>T c.(6748-6750)ttC>ttT p.F2250F RNF213_ENST00000508628.2_Silent_p.F2299F|RNF213_ENST00000336301.6_Silent_p.F323F NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TCAAGAAGTTCGTGGTGACCT 0.502000 9 134 0 0 0.001368 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432850 104432850 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr9:104432850C>G ENST00000361820.3 - 3 2444 c.1844G>C c.(1843-1845)gGg>gCg p.G615A NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 615 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) ACCCACTAGCCCAGTCCAGTG 0.488000 11 40 0 0 0.000978 0 0 MINK1 50488 broad.mit.edu 37 17 4789760 4789760 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:4789760T>C ENST00000355280.6 + 10 984 c.788T>C c.(787-789)aTt>aCt p.I263T MINK1_ENST00000347992.7_Missense_Mutation_p.I263T|MINK1_ENST00000453408.3_Missense_Mutation_p.I263T NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 263 Protein kinase. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 AAGAAGTTCATTGACTTCATT 0.557000 44 107 0 0 0.003610 0 0 MYPN 84665 broad.mit.edu 37 10 69957149 69957149 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr10:69957149C>A ENST00000358913.5 + 16 3687 c.3199C>A c.(3199-3201)Cag>Aag p.Q1067K MYPN_ENST00000540630.1_Missense_Mutation_p.Q1067K|MYPN_ENST00000354393.2_Missense_Mutation_p.Q792K NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 1067 Interaction with ACTN. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 AGAGCCCCTACAGGAACGCTT 0.458000 21 87 2.89027e-11 6.30668e-11 0.002299 1 0 PPM1G 5496 broad.mit.edu 37 2 27607796 27607796 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:27607796G>A ENST00000344034.4 - 5 833 c.569C>T c.(568-570)gCa>gTa p.A190V PPM1G_ENST00000350803.4_Missense_Mutation_p.A190V NM_177983.2 NP_817092.1 O15355 PPM1G_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1G 190 cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) CTCAGGTCCTGCCTCCCCATT 0.592000 11 125 0 0 0.001855 0 0 SHC4 399694 broad.mit.edu 37 15 49118221 49118221 + Nonsense_Mutation SNP T T A rs149166908 TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr15:49118221T>A ENST00000332408.4 - 12 2268 c.1840A>T c.(1840-1842)Aaa>Taa p.K614* SHC4_ENST00000396535.3_Nonsense_Mutation_p.K371*|SHC4_ENST00000537958.1_Nonsense_Mutation_p.K328* NM_203349.3 NP_976224.3 Q6S5L8 SHC4_HUMAN SHC (Src homology 2 domain containing) family, member 4 614 SH2. intracellular signal transduction cell junction|postsynaptic membrane breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) ACTGGTTGTTTAAGGCTTACT 0.393000 15 99 0 0 0.004007 0 0 ZNF536 9745 broad.mit.edu 37 19 30935392 30935392 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:30935392C>T ENST00000355537.3 + 2 1070 c.923C>T c.(922-924)gCg>gTg p.A308V NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TGCGACTTCGCGGCTTCGCAG 0.642000 17 115 0 0 0.001523 0 0 DCHS2 54798 broad.mit.edu 37 4 155156786 155156786 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr4:155156786C>T ENST00000357232.3 - 25 7652 c.7653G>A c.(7651-7653)ctG>ctA p.L2551L NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2551 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AGATGAGTATCAGAAACACTA 0.383000 9 23 0 0 0.006214 0 0 KCNK17 89822 broad.mit.edu 37 6 39271737 39271737 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:39271737C>A ENST00000453413.2 - 4 824 c.684G>T c.(682-684)gtG>gtT p.V228V KCNK17_ENST00000373231.4_Silent_p.V228V NM_001135111.1 NP_001128583.1 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 228 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 TCTCACCAATCACGTAGTCGC 0.622000 9 75 0.000978159 0.00160176 0.000978 1 0 TENM1 10178 broad.mit.edu 37 X 123654437 123654437 + Silent SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:123654437A>T ENST00000422452.2 - 18 3294 c.3231T>A c.(3229-3231)ctT>ctA p.L1077L TENM1_ENST00000371130.3_Silent_p.L1077L NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 ATGTGTAGACAAGATTAATTG 0.448000 16 61 0 0 0.004990 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846209 47846209 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:47846209T>A ENST00000339488.4 - 3 2404 c.2371A>T c.(2371-2373)Act>Tct p.T791S NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 791 integral to membrane hedgehog receptor activity CAACCCCCAGTGAGCAGCAAG 0.428000 4 32 0 0 0.000248 0 0 BPIFB2 80341 broad.mit.edu 37 20 31609539 31609539 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:31609539C>A ENST00000170150.3 + 15 1464 c.1269C>A c.(1267-1269)gcC>gcA p.A423A NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 423 extracellular region lipid binding CTCTCTTGGCCATGGGAATTG 0.582000 7 79 1.12685e-05 2.03014e-05 0.004482 1 0 ZBTB20 26137 broad.mit.edu 37 3 114069274 114069274 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:114069274T>A ENST00000462705.1 - 11 2253 c.1432A>T c.(1432-1434)Act>Tct p.T478S ZBTB20_ENST00000357258.3_Missense_Mutation_p.T478S|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T478S|ZBTB20_ENST00000393785.2_Missense_Mutation_p.T478S|ZBTB20_ENST00000464560.1_Missense_Mutation_p.T478S|ZBTB20_ENST00000474710.1_Missense_Mutation_p.T551S|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T478S NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 551 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) AGCTGTGCAGTAAAGGTCGAC 0.622000 8 103 0 0 0.003080 0 0 PEG3 5178 broad.mit.edu 37 19 57325341 57325341 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:57325341G>T ENST00000326441.9 - 10 4832 c.4469C>A c.(4468-4470)cCa>cAa p.P1490Q ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.P1364Q|PEG3_ENST00000423103.2_Missense_Mutation_p.P1490Q|PEG3_ENST00000598410.1_Missense_Mutation_p.P1366Q|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1490 Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ACCTTCTTCTGGGTCTTCAAT 0.488000 21 160 1.01871e-10 2.2068e-10 0.008871 1 0 SLC9A2 6549 broad.mit.edu 37 2 103299823 103299823 + Missense_Mutation SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:103299823A>G ENST00000233969.2 + 4 1250 c.1108A>G c.(1108-1110)Agc>Ggc p.S370G NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 370 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 GAGCAGTGTCAGCGAAACCTT 0.473000 16 64 0 0 0.004007 0 0 NCKAP5 344148 broad.mit.edu 37 2 133539909 133539909 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:133539909T>A ENST00000409261.1 - 14 4848 c.4475A>T c.(4474-4476)aAg>aTg p.K1492M NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.K1492M|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1492 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 AGAGGTGGGCTTTGTTTGCAC 0.493000 11 72 0 0 0.008291 0 0 GCNT2 2651 broad.mit.edu 37 6 10529521 10529521 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:10529521T>C ENST00000379597.3 + 1 933 c.377T>C c.(376-378)gTg>gCg p.V126A GCNT2_ENST00000495262.1_Missense_Mutation_p.V126A|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 126 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) GTCTACTGTGTGCACCTGGAT 0.488000 16 74 0 0 0.004990 0 0 SEPT7 989 broad.mit.edu 37 7 35930323 35930323 + Silent SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:35930323T>C ENST00000494488.2 + 10 876 c.876T>C c.(874-876)taT>taC p.Y292Y SEPT7_ENST00000350320.6_Silent_p.Y305Y|SEPT7_ENST00000399035.3_Silent_p.Y305Y|SEPT7_ENST00000399034.2_Silent_p.Y307Y|SEPT7_ENST00000435235.1_Silent_p.Y253Y|SEPT7_ENST00000432293.2_Intron Q16181 SEPT7_HUMAN septin 7 306 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 ATGTCCACTATGAGAACTACA 0.348000 6 31 0 0 0.001168 0 0 C1orf101 257044 broad.mit.edu 37 1 244724029 244724029 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:244724029C>T ENST00000366534.4 + 10 1143 c.1089C>T c.(1087-1089)tcC>tcT p.S363S C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Silent_p.S363S|C1orf101_ENST00000366531.3_Silent_p.S212S NM_001130957.1 NP_001124429.1 Q5SY80 CA101_HUMAN chromosome 1 open reading frame 101 363 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 36 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) ACCTCGGATCCATTCTTCTTA 0.383000 12 45 0 0 0.001368 0 0 NCKAP5 344148 broad.mit.edu 37 2 133543154 133543154 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:133543154C>G ENST00000409261.1 - 14 1603 c.1230G>C c.(1228-1230)aaG>aaC p.K410N NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.K410N|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 410 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 ACACTTTTCGCTTCTGTAGCT 0.403000 13 69 0 0 0.002450 0 0 CCDC87 55231 broad.mit.edu 37 11 66357994 66357994 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:66357994C>A ENST00000333861.3 - 1 2560 c.2493G>T c.(2491-2493)tcG>tcT p.S831S NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 831 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CCTTCAGGGCCGAGACCAGGT 0.572000 13 214 1.61879e-10 3.4983e-10 0.001368 1 0 SH3PXD2A 9644 broad.mit.edu 37 10 105365603 105365603 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr10:105365603C>T ENST00000369774.4 - 14 1656 c.1380G>A c.(1378-1380)caG>caA p.Q460Q SH3PXD2A_ENST00000540321.1_Silent_p.Q327Q|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.Q432Q|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.Q295Q Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 460 SH3 3. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) AAATGCACGACTGGAATTCGG 0.532000 OREG0020500 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 60 0 0 0.001523 0 0 ZNF92 168374 broad.mit.edu 37 7 64863388 64863388 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:64863388G>T ENST00000328747.7 + 4 560 c.361G>T c.(361-363)Gat>Tat p.D121Y ZNF92_ENST00000357512.2_Missense_Mutation_p.D89Y|ZNF92_ENST00000450302.2_Missense_Mutation_p.D52Y|ZNF92_ENST00000431504.1_Missense_Mutation_p.D45Y NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 121 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) TAAAAGTGTGGATGCATGTAA 0.343000 5 66 3.59834e-05 6.30586e-05 0.001168 1 0 TACR3 6870 broad.mit.edu 37 4 104579428 104579428 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr4:104579428C>A ENST00000304883.2 - 2 821 c.681G>T c.(679-681)atG>atT p.M227I NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 227 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TACGGCCTGGCATGACTTTGG 0.403000 18 32 1.50039e-11 3.28988e-11 0.001882 1 0 CDH19 28513 broad.mit.edu 37 18 64211444 64211444 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr18:64211444G>T ENST00000262150.2 - 7 1270 c.978C>A c.(976-978)caC>caA p.H326Q CDH19_ENST00000540086.1_Missense_Mutation_p.H326Q NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 326 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) AGTGGTTCTGGTGCTCAAAAT 0.373000 7 36 5.18039e-06 9.58266e-06 0.003080 1 0 CAPRIN1 4076 broad.mit.edu 37 11 34093306 34093306 + Missense_Mutation SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:34093306A>G ENST00000341394.4 + 3 439 c.250A>G c.(250-252)Aaa>Gaa p.K84E CAPRIN1_ENST00000529307.1_Missense_Mutation_p.K3E|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.K84E|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.K84E|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.K84E NM_005898.4 NP_005889.3 Q14444 CAPR1_HUMAN cell cycle associated protein 1 84 negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule protein binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 18 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) ACGAATGAACAAAGGGGAAAG 0.313000 4 31 0 0 0.001168 0 0 NEB 4703 broad.mit.edu 37 2 152506707 152506707 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:152506707C>G ENST00000397345.3 - 54 7616 c.7414G>C c.(7414-7416)Gcc>Ccc p.A2472P NEB_ENST00000427231.2_Missense_Mutation_p.A2472P|NEB_ENST00000409198.1_Missense_Mutation_p.A2472P|NEB_ENST00000604864.1_Missense_Mutation_p.A2472P|NEB_ENST00000172853.10_Missense_Mutation_p.A2472P|NEB_ENST00000603639.1_Missense_Mutation_p.A2472P NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 2472 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CTATTTTTGGCATTTGTCTTT 0.398000 5 45 0 0 0.001168 0 0 CORIN 10699 broad.mit.edu 37 4 47765540 47765540 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr4:47765540G>C ENST00000273857.4 - 4 472 c.473C>G c.(472-474)cCt>cGt p.P158R CORIN_ENST00000508498.1_Missense_Mutation_p.P19R|CORIN_ENST00000505909.1_Missense_Mutation_p.P158R|CORIN_ENST00000504584.1_Missense_Mutation_p.P158R|CORIN_ENST00000502252.1_Missense_Mutation_p.P91R NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 158 FZ 1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 TGAGAGGAGAGGTGTCAGCGT 0.473000 5 110 0 0 0.001984 0 0 ZNF385D 79750 broad.mit.edu 37 3 21478593 21478593 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:21478593G>T ENST00000281523.2 - 5 1060 c.542C>A c.(541-543)cCa>cAa p.P181Q ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 181 Thr-rich. nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GGCTGTCGTTGGGCTTTTTTC 0.473000 11 109 3.86212e-05 6.75495e-05 0.008291 1 0 ZNF202 7753 broad.mit.edu 37 11 123601246 123601246 + Silent SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:123601246T>A ENST00000336139.4 - 3 713 c.351A>T c.(349-351)gcA>gcT p.A117A ZNF202_ENST00000530393.1_Silent_p.A117A|ZNF202_ENST00000529691.1_Silent_p.A117A O95125 ZN202_HUMAN zinc finger protein 202 117 SCAN box. lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CCAGCGTCACTGCCTCCTCGC 0.577000 23 71 0 0 0.003954 0 0 IGLON5 402665 broad.mit.edu 37 19 51826949 51826949 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:51826949C>A ENST00000270642.8 + 3 192 c.192C>A c.(190-192)gcC>gcA p.A64A NM_001101372.1 NP_001094842.1 A6NGN9 IGLO5_HUMAN IgLON family member 5 64 Ig-like C2-type 1. extracellular region large_intestine(5)|lung(6)|prostate(1) 12 CCCGCGTGGCCTGGCTGAACC 0.642000 5 18 0.000602214 0.000993378 0.000602 1 0 FBXL3 26224 broad.mit.edu 37 13 77581777 77581777 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr13:77581777G>A ENST00000355619.5 - 5 1114 c.790C>T c.(790-792)Cct>Tct p.P264S FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 264 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) GTCTGTCCAGGATTCTCACTG 0.373000 6 31 0 0 0.001168 0 0 SPTB 6710 broad.mit.edu 37 14 65252649 65252649 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr14:65252649C>A ENST00000389722.3 - 16 3635 c.3582G>T c.(3580-3582)ttG>ttT p.L1194F SPTB_ENST00000556626.1_Missense_Mutation_p.L1194F|SPTB_ENST00000389721.5_Missense_Mutation_p.L1194F|SPTB_ENST00000542895.1_Missense_Mutation_p.L1194F|SPTB_ENST00000389720.3_Missense_Mutation_p.L1194F NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1194 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTGGGGGCTCCAAGTGAGCCA 0.547000 18 121 3.99206e-14 9.2022e-14 0.007413 1 0 DNTT 1791 broad.mit.edu 37 10 98078223 98078223 + Nonsense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr10:98078223G>A ENST00000419175.1 + 2 488 c.318G>A c.(316-318)tgG>tgA p.W106* DNTT_ENST00000371174.2_Nonsense_Mutation_p.W106* NM_001017520.1|NM_004088.3 NP_001017520.1|NP_004079.3 P04053 TDT_HUMAN DNA nucleotidylexotransferase 106 BRCT. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding p.W106*(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) ATGTCTCCTGGCTGATCGAAT 0.478000 14 104 0 0 0.002450 0 0 OC90 729330 broad.mit.edu 37 8 133053916 133053916 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:133053916T>A ENST00000262283.5 - 8 887 c.788A>T c.(787-789)cAg>cTg p.Q263L OC90_ENST00000603859.1_Missense_Mutation_p.Q67L|OC90_ENST00000254627.3_Missense_Mutation_p.Q67L|OC90_ENST00000443356.2_Missense_Mutation_p.Q67L Q02509 OC90_HUMAN otoconin 90 67 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GAAGACAGCCTGCAGCCAGGT 0.587000 14 18 0 0 0.004007 0 0 RRP1B 23076 broad.mit.edu 37 21 45113111 45113111 + Silent SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr21:45113111G>C ENST00000340648.4 + 16 2241 c.2124G>C c.(2122-2124)acG>acC p.T708T NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 708 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) TCAGTCCCACGGGCCCTTCTC 0.577000 5 46 0 0 0.001168 0 0 LAMB4 22798 broad.mit.edu 37 7 107746314 107746314 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:107746314T>A ENST00000388781.3 - 8 901 c.818A>T c.(817-819)gAa>gTa p.E273V LAMB4_ENST00000414450.2_Missense_Mutation_p.E273V|LAMB4_ENST00000388780.3_Missense_Mutation_p.E273V|LAMB4_ENST00000205386.4_Missense_Mutation_p.E273V NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 273 Laminin EGF-like 1. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 AGGGCGACATTCGCTAGCATG 0.468000 29 50 0 0 0.008361 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C A rs28934576 by1000genomes TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:7577120C>A ENST00000420246.2 - 8 950 c.818G>T c.(817-819)cGt>cTt p.R273L TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 6 17 8.12818e-05 0.000140254 0.001984 1 0 PMP22 5376 broad.mit.edu 37 17 15134345 15134345 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:15134345C>A ENST00000395938.2 - 5 566 c.372G>T c.(370-372)tgG>tgT p.W124C PMP22_ENST00000395936.1_3'UTR|PMP22_ENST00000312280.3_Missense_Mutation_p.W124C|PMP22_ENST00000494511.1_Missense_Mutation_p.A65S NM_153321.1 NP_696996.1 Q01453 PMP22_HUMAN peripheral myelin protein 22 124 peripheral nervous system development|synaptic transmission integral to membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06) AGTTGAGATGCCACTCCGGGT 0.602000 10 49 0.000442599 0.000735484 0.006214 1 0 ANKRD27 84079 broad.mit.edu 37 19 33106614 33106614 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:33106614C>G ENST00000306065.4 - 22 2283 c.2125G>C c.(2125-2127)Gaa>Caa p.E709Q NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 709 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) TGACAGAATTCGGGGTCCGCT 0.547000 5 73 0 0 0.001168 0 0 ATP5A1 498 broad.mit.edu 37 18 43671703 43671703 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr18:43671703T>A ENST00000593152.2 - 3 643 c.104A>T c.(103-105)cAt>cTt p.H35L ATP5A1_ENST00000398752.6_Missense_Mutation_p.H85L|ATP5A1_ENST00000282050.2_Missense_Mutation_p.H85L|ATP5A1_ENST00000590665.1_Missense_Mutation_p.H85L NM_001257335.1 NP_001244264.1 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle 85 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism p.H85R(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1) 22 CCTCAGCCCATGTACGCGGGC 0.393000 5 81 0 0 0.000602 0 0 SERPINB4 6318 broad.mit.edu 37 18 61305340 61305340 + Silent SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr18:61305340A>G ENST00000341074.5 - 8 901 c.786T>C c.(784-786)acT>acC p.T262T SERPINB4_ENST00000356424.6_Silent_p.T210T NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 ATTTCTCAGCAGTGAGTTTCT 0.368000 4 54 0 0 0.000248 0 0 TCL1A 8115 broad.mit.edu 37 14 96180314 96180314 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr14:96180314C>A ENST00000402399.1 - 1 219 c.90G>T c.(88-90)aaG>aaT p.K30N RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000555202.1_Missense_Mutation_p.K30N|TCL1A_ENST00000554012.1_Missense_Mutation_p.K30N|TCL1A_ENST00000556450.1_Missense_Mutation_p.K30N|RP11-164H13.1_ENST00000547644.2_RNA NM_021966.2 NP_068801.1 P56279 TCL1A_HUMAN T-cell leukemia/lymphoma 1A 30 multicellular organismal development endoplasmic reticulum|microsome haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) AGGCGTGCTGCTTCTCGTCCA 0.657000 T TRA@ T-CLL 14 79 3.52763e-06 6.57955e-06 0.004990 1 0 IRAK2 3656 broad.mit.edu 37 3 10276333 10276333 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:10276333G>T ENST00000256458.4 + 11 1553 c.1463G>T c.(1462-1464)aGc>aTc p.S488I NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 488 Protein kinase. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 CGTAACACCAGCCTGCAGGAG 0.711000 10 20 1.33987e-11 2.95231e-11 0.008291 1 0 TNPO3 23534 broad.mit.edu 37 7 128626910 128626910 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:128626910T>A ENST00000393245.1 - 12 2038 c.1665A>T c.(1663-1665)aaA>aaT p.K555N TNPO3_ENST00000482320.1_Missense_Mutation_p.K455N|TNPO3_ENST00000265388.5_Missense_Mutation_p.K521N|TNPO3_ENST00000471234.1_Intron|TNPO3_ENST00000471166.1_Missense_Mutation_p.K555N NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 521 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 TATGAATGGCTTTGGCTGCAG 0.488000 36 82 0 0 0.005524 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138714142 138714142 + Missense_Mutation SNP T T G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr9:138714142T>G ENST00000389532.4 - 11 2429 c.2365A>C c.(2365-2367)Agc>Cgc p.S789R CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.S511R|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.S800R NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 789 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GAGCGGCCGCTGGCGTCATCT 0.572000 46 119 0 0 0.003610 0 0 CROCC 9696 broad.mit.edu 37 1 17266418 17266418 + Silent SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:17266418G>A ENST00000375541.5 + 13 1707 c.1638G>A c.(1636-1638)caG>caA p.Q546Q CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 546 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) AGGCAAGCCAGGACCTACTGG 0.667000 12 86 0 0 0.001368 0 0 ASXL3 80816 broad.mit.edu 37 18 31323638 31323638 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr18:31323638G>C ENST00000269197.5 + 12 3826 c.3826G>C c.(3826-3828)Gct>Cct p.A1276P NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1276 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TACAATTTCTGCTTGTAATAT 0.393000 11 59 0 0 0.000978 0 0 C20orf26 26074 broad.mit.edu 37 20 20177351 20177351 + Silent SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:20177351G>A ENST00000245957.5 + 16 1804 c.1728G>A c.(1726-1728)aaG>aaA p.K576K C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 576 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) TCTTTCTGAAGGAGATCCTGC 0.473000 23 67 0 0 0.003330 0 0 OLIG2 10215 broad.mit.edu 37 21 34399194 34399194 + Silent SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr21:34399194G>T ENST00000333337.3 + 1 952 c.24G>T c.(22-24)gtG>gtT p.V8V AP000282.2_ENST00000454622.1_RNA|OLIG2_ENST00000382357.3_Silent_p.V8V|AP000282.2_ENST00000420356.1_RNA Q13516 OLIG2_HUMAN oligodendrocyte lineage transcription factor 2 8 cytoplasm|nucleus|plasma membrane DNA binding breast(1)|central_nervous_system(2) 3 CCAGCCTGGTGTCCAGCCGCC 0.662000 T TRA@ T-ALL 9 45 9.70103e-10 2.04724e-09 0.008291 1 0 UNC13C 440279 broad.mit.edu 37 15 54916114 54916114 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr15:54916114C>A ENST00000545554.1 + 31 6321 c.6321C>A c.(6319-6321)agC>agA p.S2107R UNC13C_ENST00000539562.2_Missense_Mutation_p.S28R|UNC13C_ENST00000537900.1_Missense_Mutation_p.S2105R|UNC13C_ENST00000260323.11_Missense_Mutation_p.S2107R Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2107 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AAACAAAAAGCAACACATGGT 0.423000 14 78 1.49906e-05 2.67392e-05 0.002450 1 0 GREB1 9687 broad.mit.edu 37 2 11720967 11720967 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:11720967G>T ENST00000389825.3 + 6 891 c.580G>T c.(580-582)Gcc>Tcc p.A194S GREB1_ENST00000381483.2_Intron|GREB1_ENST00000381486.2_Intron|GREB1_ENST00000234142.5_Intron|GREB1_ENST00000263834.5_Intron Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 304 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) AGGTAGCTCTGCCTGTCCTGG 0.617000 6 38 4.096e-09 8.46507e-09 0.001168 1 0 KCNT2 343450 broad.mit.edu 37 1 196227378 196227378 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:196227378C>A ENST00000367433.5 - 25 3186 c.3085G>T c.(3085-3087)Gct>Tct p.A1029S KCNT2_ENST00000294725.8_Missense_Mutation_p.A1053S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.A987S|KCNT2_ENST00000451324.2_3'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1053 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 ACAAGTTCAGCAAGCTCTTGT 0.403000 18 78 2.94398e-08 5.86838e-08 0.007413 1 0 PCDHA3 56145 broad.mit.edu 37 5 140182384 140182384 + Silent SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:140182384G>A ENST00000522353.2 + 1 1602 c.1602G>A c.(1600-1602)caG>caA p.Q534Q PCDHA3_ENST00000532566.2_Silent_p.Q534Q|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGTTCCAGGTGAGTGCGC 0.672000 16 141 0 0 0.004990 0 0 SEMA5A 9037 broad.mit.edu 37 5 9190447 9190447 + Missense_Mutation SNP A A C rs148001955 TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:9190447A>C ENST00000382496.5 - 11 1870 c.1205T>G c.(1204-1206)tTt>tGt p.F402C NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 402 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 CACGTGGGAAAAGCGGCTATT 0.557000 3 73 0 0 0.000248 0 0 FOLH1 2346 broad.mit.edu 37 11 49175861 49175861 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:49175861C>A ENST00000340334.7 - 17 2130 c.1762G>T c.(1762-1764)Gtt>Ttt p.V588F FOLH1_ENST00000343844.4_Missense_Mutation_p.V295F|FOLH1_ENST00000256999.2_Missense_Mutation_p.V603F|FOLH1_ENST00000356696.3_Missense_Mutation_p.V603F|FOLH1_ENST00000533034.1_Missense_Mutation_p.V588F NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 603 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TTTCTTAAAACTACAGCATAA 0.393000 12 61 3.07112e-06 5.73999e-06 0.000978 1 0 SLC22A12 116085 broad.mit.edu 37 11 64359088 64359088 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:64359088G>T ENST00000377574.1 + 1 807 c.60G>T c.(58-60)caG>caT p.Q20H SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000336464.7_Missense_Mutation_p.Q20H|SLC22A12_ENST00000377572.1_Missense_Mutation_p.Q20H|SLC22A12_ENST00000377567.2_Missense_Mutation_p.Q20H NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 20 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 AGGTTCTCCAGACGATGGCTC 0.617000 16 109 2.4624e-09 5.12429e-09 0.008871 1 0 TRPM4 54795 broad.mit.edu 37 19 49671653 49671653 + Silent SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:49671653G>T ENST00000252826.5 + 5 711 c.585G>T c.(583-585)cgG>cgT p.R195R TRPM4_ENST00000427978.2_Silent_p.R195R|TRPM4_ENST00000355712.5_Intron NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 195 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GTGTGGTCCGGAATAGAGACA 0.647000 6 51 0.00198382 0.00319043 0.001984 1 0 SAMD9L 219285 broad.mit.edu 37 7 92763404 92763404 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:92763404C>A ENST00000318238.4 - 5 3097 c.1881G>T c.(1879-1881)gtG>gtT p.V627V SAMD9L_ENST00000437805.1_Silent_p.V627V|SAMD9L_ENST00000411955.1_Silent_p.V627V NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 627 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) ATGACCGAGTCACCGATTTTA 0.393000 46 92 2.9001e-28 7.12348e-28 0.003610 1 0 OR8I2 120586 broad.mit.edu 37 11 55861007 55861007 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:55861007C>T ENST00000302124.2 + 1 255 c.224C>T c.(223-225)tCt>tTt p.S75F OR8I2_ENST00000560768.1_Missense_Mutation_p.S75F Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) TTTTACTCCTCTACTGTAACA 0.393000 25 153 0 0 0.002780 0 0 FAM120B 84498 broad.mit.edu 37 6 170626880 170626880 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:170626880C>T ENST00000476287.1 + 2 510 c.402C>T c.(400-402)ccC>ccT p.P134P FAM120B_ENST00000540480.1_Silent_p.P146P|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Silent_p.P157P NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 134 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) TCTTCATCCCCTCAGGGCTAG 0.463000 12 63 0 0 0.001368 0 0 NFASC 23114 broad.mit.edu 37 1 204955212 204955212 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:204955212G>A ENST00000367172.4 + 23 3089 c.2761G>A c.(2761-2763)Gag>Aag p.E921K NFASC_ENST00000360049.4_Missense_Mutation_p.E917K|NFASC_ENST00000539706.1_Missense_Mutation_p.E917K|NFASC_ENST00000513543.1_Missense_Mutation_p.E917K|NFASC_ENST00000367170.4_Missense_Mutation_p.E921K|NFASC_ENST00000367171.4_Missense_Mutation_p.E906K|NFASC_ENST00000338515.6_Missense_Mutation_p.E921K|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000338586.6_Missense_Mutation_p.E921K|NFASC_ENST00000404076.1_Missense_Mutation_p.E900K|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000404907.1_Missense_Mutation_p.E917K O94856 NFASC_HUMAN neurofascin 921 Fibronectin type-III 3. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GCCTCGCAGTGAGACCAAGGA 0.612000 8 30 0 0 0.006214 0 0 SV2C 22987 broad.mit.edu 37 5 75621369 75621369 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:75621369G>T ENST00000502798.2 + 13 2623 c.2181G>T c.(2179-2181)atG>atT p.M727I SV2C_ENST00000322285.7_Intron NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 727 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) AGGTTCTGATGTAATGGGAAA 0.507000 10 52 6.40141e-05 0.000111745 0.000978 1 0 UBA7 7318 broad.mit.edu 37 3 49848049 49848049 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:49848049C>A ENST00000333486.3 - 12 1526 c.1368G>T c.(1366-1368)ctG>ctT p.L456L NM_003335.2 NP_003326.2 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 456 2 approximate repeats. ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TCCCGGCCCCCAGTCCCACTA 0.602000 44 132 3.05275e-18 7.27963e-18 0.003214 1 0 PLXNA3 55558 broad.mit.edu 37 X 153693806 153693806 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:153693806G>T ENST00000369682.3 + 12 2459 c.2284G>T c.(2284-2286)Gac>Tac p.D762Y NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 762 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CACCGAGCTGGACTTCTCCGT 0.552000 26 30 1.42536e-11 3.133e-11 0.004656 1 0 VPS13D 55187 broad.mit.edu 37 1 12336516 12336516 + Silent SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:12336516G>C ENST00000358136.3 + 19 3001 c.2871G>C c.(2869-2871)gcG>gcC p.A957A VPS13D_ENST00000356315.4_Silent_p.A957A NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 957 protein localization p.A957A(1) NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TCCTCCTGGCGGAATTTAAAG 0.498000 OREG0013110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 73 0 0 0.002450 0 0 GLP2R 9340 broad.mit.edu 37 17 9783735 9783735 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:9783735G>T ENST00000262441.5 + 11 1699 c.1186G>T c.(1186-1188)Gtt>Ttt p.V396F GLP2R_ENST00000574745.1_Missense_Mutation_p.V216F NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 396 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) TTTATTGGGCGTTCATGAGAT 0.403000 39 120 9.73076e-26 2.38364e-25 0.006999 1 0 C20orf197 284756 broad.mit.edu 37 20 58645825 58645825 + Missense_Mutation SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:58645825A>T ENST00000313426.1 + 4 549 c.243A>T c.(241-243)agA>agT p.R81S NM_173644.1 NP_775915.1 Q8N268 CT197_HUMAN chromosome 20 open reading frame 197 81 large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(7;2.33e-09) TGCAGTCAAGAGAGCTGGGAA 0.463000 12 36 0 0 0.001368 0 0 PCDH19 57526 broad.mit.edu 37 X 99597071 99597071 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:99597071C>A ENST00000373034.4 - 5 4353 c.2678G>T c.(2677-2679)aGc>aTc p.S893I PCDH19_ENST00000255531.7_Missense_Mutation_p.S846I|PCDH19_ENST00000420881.2_Splice_Site NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 893 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 GAAGGTGGAGCTGCTGGGTTG 0.468000 14 38 2.32078e-09 4.8408e-09 0.003163 1 0 PEX13 5194 broad.mit.edu 37 2 61258982 61258982 + Missense_Mutation SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:61258982A>G ENST00000295030.4 + 2 559 c.521A>G c.(520-522)cAc>cGc p.H174R PEX13_ENST00000472678.1_3'UTR NM_002618.3 NP_002609.1 Q92968 PEX13_HUMAN peroxisomal biogenesis factor 13 174 Targeting to peroxisomes. cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior integral to peroxisomal membrane|membrane fraction protein binding endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114) TTGAAAATACACTTTACAAAA 0.403000 20 102 0 0 0.001523 0 0 OBSL1 23363 broad.mit.edu 37 2 220424026 220424026 + Silent SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:220424026A>T ENST00000404537.1 - 9 3203 c.3147T>A c.(3145-3147)ccT>ccA p.P1049P OBSL1_ENST00000373876.1_Silent_p.P1049P|OBSL1_ENST00000265318.4_Silent_p.P1049P|OBSL1_ENST00000603926.1_Silent_p.P1049P|OBSL1_ENST00000265317.5_Silent_p.P40P|RP11-256I23.2_ENST00000597192.1_RNA NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 1049 Ig-like 8. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GCTGAGCAGCAGGTAGCACCA 0.627000 21 99 0 0 0.002299 0 0 GRM2 2912 broad.mit.edu 37 3 51749821 51749821 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:51749821T>C ENST00000395052.3 + 4 2266 c.2032T>C c.(2032-2034)Tca>Cca p.S678P GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 678 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CAGTCCTGCCTCACAGGTGGC 0.657000 7 22 0 0 0.001984 0 0 ABCB1 5243 broad.mit.edu 37 7 87199518 87199518 + Missense_Mutation SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:87199518A>T ENST00000265724.3 - 6 725 c.308T>A c.(307-309)tTc>tAc p.F103Y ABCB1_ENST00000543898.1_Missense_Mutation_p.F103Y NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 103 ABC transmembrane type-1 1. F -> L (rare polymorphism). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ATTCATGAAGAACCCTGTATC 0.308000 22 65 0 0 0.003954 0 0 C11orf16 56673 broad.mit.edu 37 11 8947390 8947390 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:8947390T>A ENST00000326053.5 - 5 930 c.824A>T c.(823-825)cAg>cTg p.Q275L C11orf16_ENST00000525780.1_Missense_Mutation_p.Q275L NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 275 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) GCACAGTAGCTGGCAGCAGGC 0.597000 7 90 0 0 0.001984 0 0 KCNJ3 3760 broad.mit.edu 37 2 155566271 155566271 + Missense_Mutation SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:155566271A>T ENST00000295101.2 + 2 1336 c.859A>T c.(859-861)Agc>Tgc p.S287C KCNJ3_ENST00000544049.1_Intron|KCNJ3_ENST00000493505.1_3'UTR NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 287 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) ATCCCAGCGAAGCATGCAAAC 0.433000 13 58 0 0 0.001368 0 0 CLEC17A 388512 broad.mit.edu 37 19 14710933 14710933 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:14710933C>G ENST00000547437.1 + 12 910 c.833C>G c.(832-834)gCc>gGc p.A278G CLEC17A_ENST00000417570.1_Missense_Mutation_p.A278G|CLEC17A_ENST00000397439.2_Missense_Mutation_p.A261G NM_207390.3 NP_997273.3 Q6ZS10 CL17A_HUMAN C-type lectin domain family 17, member A 278 C-type lectin. cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity TGGGATGAGGCCCGGATGTTC 0.522000 13 30 0 0 0.001368 0 0 ZIM2 23619 broad.mit.edu 37 19 57286357 57286357 + Missense_Mutation SNP A A C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:57286357A>C ENST00000391708.3 - 12 1825 c.1283T>G c.(1282-1284)cTt>cGt p.L428R ZIM2_ENST00000599935.1_Missense_Mutation_p.L428R|ZIM2_ENST00000221722.5_Missense_Mutation_p.L428R|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.L428R|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.L428R NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) GAGATGTTGAAGAAGATGCAC 0.453000 5 45 0 0 0.000602 0 0 IGHV3-9 28451 broad.mit.edu 37 14 106552704 106552704 + RNA SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr14:106552704A>T ENST00000390600.2 - 0 105 AGCCAAAAGGAAAATCCAGCT 0.478000 13 99 0 0 0.001855 0 0 MIR892A 100126342 broad.mit.edu 37 X 145078238 145078238 + RNA SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:145078238G>C ENST00000401124.1 - 0 23 NR_030584.1 TAAGTGACTGGCACCTTTCTG 0.517000 34 54 0 0 0.002836 0 0 NRXN2 9379 broad.mit.edu 37 11 64374793 64374793 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:64374793G>T ENST00000265459.6 - 23 5475 c.5014C>A c.(5014-5016)Cag>Aag p.Q1672K NRXN2_ENST00000301894.2_Missense_Mutation_p.Q626K|NRXN2_ENST00000377559.3_Missense_Mutation_p.Q1602K|NRXN2_ENST00000377551.1_Missense_Mutation_p.Q1672K|NRXN2_ENST00000409571.1_Missense_Mutation_p.Q1665K NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1672 cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TTTCGGCTCTGGTCCACCTGG 0.607000 8 46 1.06961e-07 2.10412e-07 0.003080 1 0 SMG8 55181 broad.mit.edu 37 17 57288806 57288806 + Missense_Mutation SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:57288806A>T ENST00000543872.2 + 2 1658 c.1394A>T c.(1393-1395)gAg>gTg p.E465V SMG8_ENST00000578922.1_Missense_Mutation_p.E465V|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.E465V Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 465 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 GGGAAAGAAGAGGACTTGGGG 0.418000 7 54 0 0 0.003080 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51961291 51961291 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:51961291C>T ENST00000321424.3 - 1 417 c.351G>A c.(349-351)agG>agA p.R117R SIGLEC8_ENST00000430817.1_Silent_p.R117R|SIGLEC8_ENST00000340550.5_Silent_p.R117R NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 117 Ig-like V-type. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) ACCCCTTATCCCTCTTCCTGG 0.488000 14 160 0 0 0.003163 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94750059 94750059 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:94750059G>C ENST00000289495.5 + 3 1780 c.1564G>C c.(1564-1566)Ggt>Cgt p.G522R PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G522R|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G522R|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G522R|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.G522R|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G522R NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 522 PDZ. cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TATTGGAATGGGTGTTGGAGC 0.413000 HNSCC(28;0.073) 9 119 0 0 0.006214 0 0 ZNF208 7757 broad.mit.edu 37 19 22156076 22156076 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:22156076C>A ENST00000397126.4 - 4 1908 c.1760G>T c.(1759-1761)gGc>gTc p.G587V ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) AAAAGCTTTGCCACATTCTTC 0.348000 6 33 8.12818e-05 0.000140254 0.001984 1 0 UNC79 57578 broad.mit.edu 37 14 94063867 94063867 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr14:94063867T>A ENST00000553484.1 + 24 3507 c.3353T>A c.(3352-3354)aTa>aAa p.I1118K UNC79_ENST00000256339.4_Missense_Mutation_p.I941K|UNC79_ENST00000555664.1_Missense_Mutation_p.I1118K|UNC79_ENST00000393151.2_Missense_Mutation_p.I1118K Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1118 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CTTGACACCATAAAGAGGCCA 0.512000 6 28 0 0 0.001168 0 0 OR4K15 81127 broad.mit.edu 37 14 20443861 20443861 + Missense_Mutation SNP A A C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr14:20443861A>C ENST00000305051.5 + 1 259 c.184A>C c.(184-186)Att>Ctt p.I62L NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TTATCTAGCAATTCTGTTGGG 0.433000 8 134 0 0 0.003080 0 0 KLK1 3816 broad.mit.edu 37 19 51327022 51327022 + Translation_Start_Site SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:51327022G>T ENST00000448701.2 - 0 21 KLK1_ENST00000301420.2_De_novo_Start_InFrame P06870 KLK1_HUMAN kallikrein 1 proteolysis nucleus serine-type endopeptidase activity breast(1)|large_intestine(4)|lung(7)|urinary_tract(1) 13 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGGTGTCCAGGGGCCAGCAG 0.647000 4 51 1.23904e-05 2.21451e-05 0.000602 1 0 DEFB115 245929 broad.mit.edu 37 20 29845557 29845557 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:29845557C>A ENST00000400552.1 + 1 91 c.91C>A c.(91-93)Cca>Aca p.P31T NM_001037730.1 NP_001032819.1 Q30KQ5 DB115_HUMAN defensin, beta 115 31 defense response to bacterium extracellular region kidney(1)|lung(3)|ovary(1)|skin(1) 6 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) TCAGACTGCCCCAGGTAAACA 0.493000 18 37 6.49762e-13 1.464e-12 0.006122 1 0 COL9A2 1298 broad.mit.edu 37 1 40770189 40770189 + Nonsense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:40770189C>A ENST00000372748.3 - 23 1270 c.1174G>T c.(1174-1176)Gag>Tag p.E392* COL9A2_ENST00000466267.1_5'UTR NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 392 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) GGACCCCTCTCGCCTTGGTCA 0.622000 5 32 0.00116845 0.00189609 0.001168 1 0 ADH1C 126 broad.mit.edu 37 4 100261852 100261852 + RNA SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr4:100261852A>G ENST00000515683.1 - 0 1195 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) TCATGACAACATAACAGGGAA 0.438000 15 130 0 0 0.002450 0 0 ADO 84890 broad.mit.edu 37 10 64565465 64565465 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr10:64565465G>T ENST00000373783.1 + 1 950 c.646G>T c.(646-648)Gat>Tat p.D216Y RP11-436D10.3_ENST00000425290.1_RNA NM_032804.5 NP_116193.2 Q96SZ5 AEDO_HUMAN 2-aminoethanethiol (cysteamine) dioxygenase 216 cysteamine dioxygenase activity|metal ion binding lung(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) CGACCCGGACGATGGCCGGGA 0.682000 5 16 2.0095e-06 3.81126e-06 0.001984 1 0 PI4KA 5297 broad.mit.edu 37 22 21088025 21088025 + Splice_Site SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr22:21088025T>A ENST00000255882.6 - 35 4245 c.4160_splice c.e35+1 p.S1387_splice PI4KA_ENST00000572273.1_Splice_Site_p.S1329_splice|PI4KA_ENST00000414196.3_Splice_Site_p.S139_splice NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1329 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GGGGAGTACCTGAAGTAGTCA 0.582000 12 90 0 0 0.003163 0 0 PLXNA4 91584 broad.mit.edu 37 7 131833308 131833308 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:131833308G>T ENST00000359827.3 - 26 5720 c.4758C>A c.(4756-4758)caC>caA p.H1586Q PLXNA4_ENST00000321063.4_Missense_Mutation_p.H1586Q Q9HCM2 PLXA4_HUMAN plexin A4 1586 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TCACCTGGTAGTGGGCCAGTG 0.527000 7 77 1.06961e-07 2.10412e-07 0.003080 1 0 DDX60 55601 broad.mit.edu 37 4 169194528 169194528 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr4:169194528C>A ENST00000393743.3 - 18 2767 c.2476G>T c.(2476-2478)Gca>Tca p.A826S NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 826 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TGAACAGTTGCTGCCACTTGA 0.403000 10 26 1.58986e-06 3.03458e-06 0.008291 1 0 ZC3H12B 340554 broad.mit.edu 37 X 64722999 64722999 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:64722999C>A ENST00000338957.4 + 5 2488 c.2421C>A c.(2419-2421)atC>atA p.I807I ZC3H12B_ENST00000423889.3_Silent_p.I796I NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 796 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTTCTAACATCGTCCTTGCAG 0.473000 7 19 0.000157383 0.000267462 0.003080 1 0 TBC1D21 161514 broad.mit.edu 37 15 74179999 74179999 + Silent SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr15:74179999G>T ENST00000300504.2 + 9 899 c.816G>T c.(814-816)gtG>gtT p.V272V TBC1D21_ENST00000535547.2_Silent_p.V236V|TBC1D21_ENST00000562056.1_Silent_p.V235V NM_153356.1 NP_699187.1 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 272 intracellular Rab GTPase activator activity breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 17 ACTTCCAGGTGCTGGTGGCCT 0.627000 4 32 3.59834e-05 6.30586e-05 0.001168 1 0 TPSD1 23430 broad.mit.edu 37 16 1306531 1306531 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr16:1306531C>G ENST00000211076.3 + 2 245 c.97C>G c.(97-99)Ctg>Gtg p.L33V TPSD1_ENST00000397534.2_Missense_Mutation_p.L26V NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 33 proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) AGGCCAGGCCCTGCAGCAAAC 0.706000 8 59 0 0 0.003080 0 0 IFI44L 10964 broad.mit.edu 37 1 79106711 79106711 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:79106711G>C ENST00000370751.4 + 7 1233 c.1054G>C c.(1054-1056)Gca>Cca p.A352P IFI44L_ENST00000342282.3_Missense_Mutation_p.A94P|IFI44L_ENST00000476521.1_3'UTR NM_006820.2 NP_006811.2 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 352 cytoplasm endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 TATAGGTATAGCATATGTGGC 0.328000 3 88 0 0 0.004672 0 0 MLLT10 8028 broad.mit.edu 37 10 22015257 22015257 + Missense_Mutation SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr10:22015257A>G ENST00000377072.3 + 16 2359 c.2011A>G c.(2011-2013)Ata>Gta p.I671V MLLT10_ENST00000446906.2_Missense_Mutation_p.I655V|MLLT10_ENST00000307729.7_Missense_Mutation_p.I655V|MLLT10_ENST00000377059.3_Missense_Mutation_p.I655V NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 671 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 GGCAGCTCTTATAGCTCAGTC 0.348000 T """MLL, PICALM, CDK6""" AL 4 239 0 0 0.000248 0 0 FOXJ3 22887 broad.mit.edu 37 1 42654511 42654511 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:42654511C>A ENST00000372572.1 - 13 1853 c.1542G>T c.(1540-1542)caG>caT p.Q514H FOXJ3_ENST00000545068.1_Missense_Mutation_p.Q514H|FOXJ3_ENST00000372573.1_Missense_Mutation_p.Q514H|FOXJ3_ENST00000361776.1_Missense_Mutation_p.Q480H|FOXJ3_ENST00000361346.1_Missense_Mutation_p.Q514H|FOXJ3_ENST00000372571.1_Missense_Mutation_p.Q28H NM_001198851.1 NP_001185780.1 Q9UPW0 FOXJ3_HUMAN forkhead box J3 514 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GTGTAAAGAACTGATTAAGAG 0.408000 18 62 1.02788e-11 2.27044e-11 0.004990 1 0 LARP1 23367 broad.mit.edu 37 5 154191138 154191138 + Missense_Mutation SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:154191138A>G ENST00000336314.4 + 18 2812 c.2788A>G c.(2788-2790)Att>Gtt p.I930V NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 1007 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AAATTTGGACATTGACCCCAA 0.458000 12 50 0 0 0.001855 0 0 OR51G2 81282 broad.mit.edu 37 11 4936008 4936008 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:4936008C>A ENST00000322013.3 - 1 914 c.886G>T c.(886-888)Gtc>Ttc p.V296F MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ACACTGTAGACAATGGGATTC 0.502000 9 33 0.00448238 0.00713214 0.004482 1 0 FAM109B 150368 broad.mit.edu 37 22 42473529 42473529 + Nonsense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr22:42473529G>T ENST00000321753.3 + 3 419 c.232G>T c.(232-234)Gag>Tag p.E78* NM_001002034.2 NP_001002034.2 Q6ICB4 SESQ2_HUMAN family with sequence similarity 109, member B 78 PH. endosome organization|receptor recycling|retrograde transport, endosome to Golgi clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network protein homodimerization activity endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1) 8 GGAACTGGCCGAGGCTCCCGT 0.657000 8 85 5.18039e-06 9.58266e-06 0.003080 1 0 HEPHL1 341208 broad.mit.edu 37 11 93754597 93754597 + Silent SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:93754597G>A ENST00000315765.9 + 1 71 c.63G>A c.(61-63)ctG>ctA p.L21L NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 21 copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TGTCTGGGCTGGTTGGCACAG 0.498000 18 107 0 0 0.004990 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182385 140182385 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:140182385G>T ENST00000522353.2 + 1 1603 c.1603G>T c.(1603-1605)Gtg>Ttg p.V535L PCDHA3_ENST00000532566.2_Missense_Mutation_p.V535L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGTTCCAGGTGAGTGCGCG 0.677000 16 142 3.41278e-10 7.27036e-10 0.004990 1 0 YTHDF1 54915 broad.mit.edu 37 20 61834126 61834126 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:61834126C>A ENST00000370339.3 - 4 1507 c.1166G>T c.(1165-1167)gGg>gTg p.G389V YTHDF1_ENST00000370333.4_Missense_Mutation_p.G339V|YTHDF1_ENST00000370334.4_Intron NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 389 YTH. NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 GAACACACGCCCGCTTTTCAG 0.532000 23 126 9.86323e-18 2.33959e-17 0.003954 1 0 SEMA3D 223117 broad.mit.edu 37 7 84628880 84628880 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:84628880C>T ENST00000284136.6 - 17 2253 c.2210G>A c.(2209-2211)aGg>aAg p.R737K SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 737 cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 CCGCTTCTCCCTGTGCCACAT 0.493000 4 76 0 0 0.000602 0 0 DNAJC14 85406 broad.mit.edu 37 12 56222112 56222112 + Missense_Mutation SNP T T G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:56222112T>G ENST00000357606.3 - 3 620 c.331A>C c.(331-333)Aac>Cac p.N111H DNAJC14_ENST00000317287.5_Missense_Mutation_p.N111H|DNAJC14_ENST00000317269.3_Missense_Mutation_p.N111H Q6Y2X3 DJC14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 14 111 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 CCAGTCTCGTTTTCTTTTGAG 0.512000 28 320 0 0 0.006320 0 0 ZBTB10 65986 broad.mit.edu 37 8 81412049 81412049 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:81412049C>T ENST00000430430.1 + 3 2072 c.1293C>T c.(1291-1293)ctC>ctT p.L431L ZBTB10_ENST00000455036.3_Silent_p.L431L|ZBTB10_ENST00000379091.4_Silent_p.L139L|ZBTB10_ENST00000426744.2_Silent_p.L431L NM_001277145.1 NP_001264074.1 Q96DT7 ZBT10_HUMAN zinc finger and BTB domain containing 10 431 BTB. transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4) 20 all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06) BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296) ACCTGGTGCTCACAAGCCAAA 0.388000 52 54 0 0 0.003610 0 0 MED13 9969 broad.mit.edu 37 17 60043926 60043926 + Silent SNP T T G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:60043926T>G ENST00000397786.2 - 19 4354 c.4278A>C c.(4276-4278)ctA>ctC p.L1426L NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1426 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 ACTTTTCTGATAGTTTCTTTG 0.398000 12 52 0 0 0.001368 0 0 PRDM14 63978 broad.mit.edu 37 8 70978559 70978559 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:70978559C>A ENST00000276594.2 - 5 1295 c.1094G>T c.(1093-1095)tGg>tTg p.W365L NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 365 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) GTCTCCATACCACACAAGGAG 0.507000 33 46 5.8336e-16 1.3693e-15 0.003271 1 0 C1orf173 127254 broad.mit.edu 37 1 75037148 75037148 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:75037148G>T ENST00000326665.5 - 14 4464 c.4246C>A c.(4246-4248)Cca>Aca p.P1416T C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1416 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCTGCTGCTGGCACTTCCTCC 0.557000 24 143 1.96895e-08 3.93352e-08 0.002780 1 0 CLCN1 1180 broad.mit.edu 37 7 143028407 143028407 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:143028407C>A ENST00000343257.2 + 9 1149 c.1062C>A c.(1060-1062)atC>atA p.I354I NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 354 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.I354I(1) breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TTGCTGCCATCGGGTCAGTGG 0.527000 25 50 5.45024e-15 1.26937e-14 0.003330 1 0 IFNL2 282616 broad.mit.edu 37 19 39760173 39760173 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:39760173C>G ENST00000331982.5 + 4 371 c.316C>G c.(316-318)Ctg>Gtg p.L106V NM_172138.1 NP_742150.1 interferon, lambda 2 GGCCCTGACGCTGAAGGTTCT 0.642000 5 47 0 0 0.001168 0 0 COX10 1352 broad.mit.edu 37 17 13980233 13980233 + Missense_Mutation SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:13980233A>T ENST00000261643.3 + 3 436 c.359A>T c.(358-360)gAa>gTa p.E120V COX10_ENST00000536205.1_5'UTR|COX10_ENST00000537334.1_Intron|COX10_ENST00000429152.2_Missense_Mutation_p.E120V NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) 120 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) GAATTGATAGAACTAGAGCCA 0.418000 11 28 0 0 0.008291 0 0 SMARCA4 6597 broad.mit.edu 37 19 11144003 11144003 + Missense_Mutation SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:11144003A>T ENST00000358026.2 + 26 3868 c.3584A>T c.(3583-3585)cAg>cTg p.Q1195L SMARCA4_ENST00000541122.2_Missense_Mutation_p.Q1195L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.Q1195L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.Q1195L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.Q1195L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.Q1195L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.Q1195L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.Q1195L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.Q1195L NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1195 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CGCATCGGGCAGCAGAACGAG 0.617000 """F, N, Mis""" NSCLC 5 51 0 0 0.000602 0 0 DLC1 10395 broad.mit.edu 37 8 12950276 12950276 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:12950276G>T ENST00000276297.4 - 13 3994 c.3585C>A c.(3583-3585)gaC>gaA p.D1195E DLC1_ENST00000512044.2_Missense_Mutation_p.D792E|DLC1_ENST00000520226.1_Missense_Mutation_p.D684E|DLC1_ENST00000358919.2_Missense_Mutation_p.D758E|DLC1_ENST00000510318.1_5'UTR NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 1195 Rho-GAP. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 CCCGGTTCTCGTCAGGCAGCA 0.557000 6 21 8.12818e-05 0.000140254 0.001984 1 0 SSFA2 6744 broad.mit.edu 37 2 182779942 182779942 + Splice_Site SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:182779942G>T ENST00000431877.2 + 11 1754 c.e11-1 SSFA2_ENST00000409136.1_Splice_Site|SSFA2_ENST00000409001.1_Splice_Site|SSFA2_ENST00000320370.7_Splice_Site|SSFA2_ENST00000428267.2_Splice_Site NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TCTTTTCACAGGTTCAGGAGT 0.423000 11 68 1.58986e-06 3.03458e-06 0.008291 1 0 PPM1M 132160 broad.mit.edu 37 3 52282167 52282167 + Splice_Site SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:52282167A>G ENST00000296487.4 + 5 631 c.e5-1 PPM1M_ENST00000457351.2_Splice_Site|PPM1M_ENST00000409502.3_Splice_Site|PPM1M_ENST00000323588.4_Splice_Site Q96MI6 PPM1M_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1M protein dephosphorylation nucleus CTD phosphatase activity|manganese ion binding prostate(1)|urinary_tract(1) 2 BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194) TCCTCAATCCAGGGCCATCTT 0.617000 5 11 0 0 0.001984 0 0 HMCN1 83872 broad.mit.edu 37 1 185986171 185986171 + Silent SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:185986171T>C ENST00000271588.4 + 33 5497 c.5268T>C c.(5266-5268)tgT>tgC p.C1756C HMCN1_ENST00000367492.2_Silent_p.C1756C NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1756 Ig-like C2-type 15. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AGCTAGATTGTCATGTGACAG 0.393000 4 96 0 0 0.000602 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130318937 130318937 + Silent SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:130318937G>T ENST00000299164.2 + 1 69 c.69G>T c.(67-69)cgG>cgT p.R23R NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 23 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) AGCCAGAGCGGGAGGTAGTCG 0.662000 5 36 0.000602214 0.000993378 0.000602 1 0 CD1C 911 broad.mit.edu 37 1 158262391 158262391 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:158262391C>G ENST00000368170.3 + 4 895 c.616C>G c.(616-618)Cca>Gca p.P206A NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 206 Ig-like. antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) TGCAGTGAGGCCAGAAGCCTG 0.493000 4 59 0 0 0.000248 0 0 SCAP 22937 broad.mit.edu 37 3 47469109 47469109 + Silent SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:47469109C>G ENST00000265565.5 - 5 871 c.459G>C c.(457-459)ctG>ctC p.L153L SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 153 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) GGCCTGGCAGCAGGTCGGTCA 0.587000 4 28 0 0 0.000248 0 0 GAS7 8522 broad.mit.edu 37 17 9821352 9821352 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:9821352T>A ENST00000396115.1 - 13 1413 c.1103A>T c.(1102-1104)cAg>cTg p.Q368L GAS7_ENST00000579158.1_Missense_Mutation_p.Q380L|GAS7_ENST00000323816.4_Missense_Mutation_p.Q364L|GAS7_ENST00000437099.2_Missense_Mutation_p.Q364L|GAS7_ENST00000540214.1_Missense_Mutation_p.Q133L|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.Q288L|GAS7_ENST00000585266.1_Missense_Mutation_p.Q364L|GAS7_ENST00000432992.2_Missense_Mutation_p.Q428L|GAS7_ENST00000542249.1_Missense_Mutation_p.Q373L NM_201432.1 NP_958836.1 O60861 GAS7_HUMAN growth arrest-specific 7 428 cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 ATGCCGCAGCTGCGTGTACTG 0.632000 T MLL AML* 6 39 0 0 0.003080 0 0 TLR4 7099 broad.mit.edu 37 9 120470844 120470844 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr9:120470844G>T ENST00000355622.6 + 2 198 c.97G>T c.(97-99)Gtt>Ttt p.V33F TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_5'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 33 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 ATTGCAGGTGGTTCCTAATAT 0.463000 14 46 0.000219431 0.000372205 0.002450 1 0 OR2AK2 391191 broad.mit.edu 37 1 248128711 248128711 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:248128711T>A ENST00000366480.3 + 1 177 c.78T>A c.(76-78)gaT>gaA p.D26E OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TTGGGACAGATTTTCTACTTG 0.373000 7 142 0 0 0.001984 0 0 LRRN2 10446 broad.mit.edu 37 1 204587869 204587869 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:204587869C>A ENST00000367175.1 - 1 3464 c.1252G>T c.(1252-1254)Gac>Tac p.D418Y LRRN2_ENST00000367177.3_Missense_Mutation_p.D418Y|LRRN2_ENST00000367176.3_Missense_Mutation_p.D418Y O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 418 LRRCT. cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) AAACAGTGGTCCGTCATCTCC 0.662000 6 28 0.00198382 0.00319043 0.001984 1 0 SOX8 30812 broad.mit.edu 37 16 1033900 1033900 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr16:1033900G>A ENST00000293894.3 + 2 710 c.595G>A c.(595-597)Ggt>Agt p.G199S NM_014587.3 NP_055402.2 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 199 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1) 10 Hepatocellular(780;0.00308) CCCTGGCGGCGGTGCCGTGTA 0.677000 3 9 0 0 0.004672 0 0 MYEOV 26579 broad.mit.edu 37 11 69063686 69063686 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:69063686G>C ENST00000535407.1 + 2 1238 c.595G>C c.(595-597)Gct>Cct p.A199P MYEOV_ENST00000441339.2_Missense_Mutation_p.A257P|MYEOV_ENST00000308946.3_Missense_Mutation_p.A257P Q96EZ4 MYEOV_HUMAN myeloma overexpressed 257 endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1) 24 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) TCTGCGGGTGGCTGGGTCCTG 0.662000 3 30 0 0 0.004672 0 0 TNFRSF8 943 broad.mit.edu 37 1 12157182 12157182 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:12157182C>T ENST00000263932.2 + 3 398 c.176C>T c.(175-177)cCa>cTa p.P59L TNFRSF8_ENST00000417814.2_5'UTR NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 59 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) CAGCAGTGCCCACAGAGGCCT 0.572000 19 58 0 0 0.008871 0 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374486 95374486 + RNA SNP T T G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:95374486T>G ENST00000494840.1 - 0 1375 NR_077228.1 GGCCATCTAATTATCTAATTA 0.383000 3 26 0 0 0.004672 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45131718 45131718 + RNA SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:45131718C>T ENST00000575173.1 - 0 418 TAAAGAATCACGCATGGAAGC 0.448000 16 65 0 0 0.004007 0 0 GPM6A 2823 broad.mit.edu 37 4 176594891 176594891 + Silent SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr4:176594891G>T ENST00000280187.7 - 4 372 c.327C>A c.(325-327)gcC>gcA p.A109A GPM6A_ENST00000393658.2_Silent_p.A109A|GPM6A_ENST00000515090.1_Silent_p.A102A|GPM6A_ENST00000506894.1_Silent_p.A98A NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 109 cell surface|integral to membrane NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) GATCTTTGATGGCCCCAGTTG 0.428000 4 40 1.024e-07 2.0277e-07 0.000602 1 0 ZNF17 7565 broad.mit.edu 37 19 57931245 57931245 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:57931245G>T ENST00000307658.7 + 4 654 c.391G>T c.(391-393)Gat>Tat p.D131Y ZNF17_ENST00000595206.1_3'UTR|ZNF17_ENST00000601808.1_Missense_Mutation_p.D129Y|AC003002.6_ENST00000596400.1_Missense_Mutation_p.141_141insY|AC004076.7_ENST00000597410.1_Intron P17021 ZNF17_HUMAN zinc finger protein 17 129 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) CACCAGAAGTGATGAAGGGAG 0.498000 11 82 3.07112e-06 5.73999e-06 0.000978 1 0 SNX10 29887 broad.mit.edu 37 7 26411519 26411519 + Silent SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:26411519T>A ENST00000338523.4 + 6 577 c.390T>A c.(388-390)atT>atA p.I130I SNX10_ENST00000409367.1_Silent_p.I90I|SNX10_ENST00000462993.1_3'UTR|SNX10_ENST00000409838.1_Silent_p.I46I|SNX10_ENST00000396376.1_Silent_p.I130I|SNX10_ENST00000446848.2_Silent_p.I156I NM_001199835.1|NM_013322.2 NP_001186764.1|NP_037454.2 Q9Y5X0 SNX10_HUMAN sorting nexin 10 130 cell communication|endosome organization|protein transport extrinsic to endosome membrane 1-phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 6 CAGAAGACATTGAGGCGTGTG 0.393000 16 98 0 0 0.004990 0 0 PRAME 23532 broad.mit.edu 37 22 22890704 22890704 + Missense_Mutation SNP C C T rs147281170 TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr22:22890704C>T ENST00000543184.1 - 5 2177 c.1315G>A c.(1315-1317)Gtg>Atg p.V439M PRAME_ENST00000398741.1_Missense_Mutation_p.V439M|PRAME_ENST00000398743.2_Missense_Mutation_p.V439M|PRAME_ENST00000402697.1_Missense_Mutation_p.V439M|PRAME_ENST00000424204.2_Missense_Mutation_p.V423M|PRAME_ENST00000539862.1_Missense_Mutation_p.V423M|PRAME_ENST00000405655.3_Missense_Mutation_p.V439M NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 439 Mediates interaction with RARA. apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) GGATACAGCACGTGGGTCAGA 0.552000 9 64 0 0 0.000978 0 0 ZYG11B 79699 broad.mit.edu 37 1 53236971 53236971 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:53236971G>T ENST00000294353.6 + 3 621 c.476G>T c.(475-477)aGc>aTc p.S159I ZYG11B_ENST00000545132.1_Missense_Mutation_p.S159I|ZYG11B_ENST00000443756.2_Missense_Mutation_p.S159I NM_024646.2 NP_078922.1 Q9C0D3 ZY11B_HUMAN zyg-11 family member B, cell cycle regulator 159 protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 30 CGCTGCTTCAGCCGGCTTTCT 0.488000 12 67 1.5842e-08 3.20044e-08 0.001855 1 0 LCE1B 353132 broad.mit.edu 37 1 152785227 152785227 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:152785227G>T ENST00000360090.3 + 1 781 c.305G>T c.(304-306)gGc>gTc p.G102V NM_178349.1 NP_848126.1 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 102 Gly-rich. keratinization breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCCTCCGGGGGCTCCAGCTGC 0.622000 5 71 0.00116845 0.00189609 0.001168 1 0 CES5A 221223 broad.mit.edu 37 16 55907881 55907881 + Translation_Start_Site SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr16:55907881G>T ENST00000518005.1 - 0 206 CES5A_ENST00000290567.9_Missense_Mutation_p.L48M|CES5A_ENST00000319165.9_Missense_Mutation_p.L48M|CES5A_ENST00000520435.1_Missense_Mutation_p.L48M|CES5A_ENST00000521992.1_Missense_Mutation_p.L77M|CES5A_ENST00000541580.1_Intron Q6NT32 EST5A_HUMAN carboxylesterase 5A extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 GGGCTTCCCAGCACAGTGACT 0.617000 5 32 0.000157383 0.000267462 0.003080 1 0 OPTC 26254 broad.mit.edu 37 1 203472722 203472722 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:203472722C>A ENST00000367222.2 + 7 989 c.873C>A c.(871-873)ccC>ccA p.P291P NM_014359.3 NP_055174.1 Q9UBM4 OPT_HUMAN opticin 291 proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.109) TCTGTGACCCCGAGGAGCACA 0.577000 5 111 0.00116845 0.00189609 0.001168 1 0 IGLV8-61 28774 broad.mit.edu 37 22 22453211 22453211 + RNA SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr22:22453211G>A ENST00000390283.2 + 0 102 CTTGCTTATGGATCAGGTCAG 0.522000 5 20 0 0 0.001984 0 0 OR6C3 254786 broad.mit.edu 37 12 55725587 55725587 + Missense_Mutation SNP A A C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:55725587A>C ENST00000379667.1 + 1 103 c.103A>C c.(103-105)Agt>Cgt p.S35R NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 GTATATATTAAGTGTTACTGG 0.403000 16 142 0 0 0.003163 0 0 EHF 26298 broad.mit.edu 37 11 34673338 34673338 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:34673338G>A ENST00000257831.3 + 6 651 c.530G>A c.(529-531)aGt>aAt p.S177N EHF_ENST00000530286.1_Missense_Mutation_p.S177N|EHF_ENST00000531794.1_Missense_Mutation_p.S199N|EHF_ENST00000450654.2_Intron|EHF_ENST00000533754.1_Missense_Mutation_p.S177N NM_012153.5 NP_036285.2 Q9NZC4 EHF_HUMAN ets homologous factor 177 cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NFIA/EHF(2) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1) 17 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) ACAACCACCAGTCACCTTCCT 0.483000 20 90 0 0 0.003330 0 0 CD1C 911 broad.mit.edu 37 1 158262516 158262516 + Silent SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:158262516G>C ENST00000368170.3 + 4 1020 c.741G>C c.(739-741)ctG>ctC p.L247L NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 247 Ig-like. antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) AGGAGCAACTGGGCACTAAAC 0.537000 18 98 0 0 0.008871 0 0 OR2T33 391195 broad.mit.edu 37 1 248436915 248436915 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:248436915C>T ENST00000318021.2 - 1 223 c.202G>A c.(202-204)Gac>Aac p.D68N NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AGCATCATGTCCATGAGGGAA 0.552000 19 139 0 0 0.002780 0 0 PER2 8864 broad.mit.edu 37 2 239162142 239162142 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:239162142C>T ENST00000254657.3 - 19 2801 c.2522G>A c.(2521-2523)tGc>tAc p.C841Y PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 841 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CACGGCTGGGCAGCTGGACTG 0.701000 6 13 0 0 0.003080 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439809 150439809 + Silent SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:150439809G>A ENST00000358647.3 + 3 949 c.582G>A c.(580-582)gaG>gaA p.E194E GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCTCTGTGGAGGAGCAGAGGC 0.577000 4 83 0 0 0.000248 0 0 PCDH10 57575 broad.mit.edu 37 4 134073041 134073041 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr4:134073041C>A ENST00000264360.4 + 1 2572 c.1746C>A c.(1744-1746)aaC>aaA p.N582K NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 582 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CAGGGCGCAACGGGACTCCAG 0.692000 7 41 0.00448238 0.00713214 0.004482 1 0 SEMA6A 57556 broad.mit.edu 37 5 115822567 115822567 + Silent SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:115822567G>T ENST00000343348.6 - 10 1627 c.840C>A c.(838-840)cgC>cgA p.R280R SEMA6A_ENST00000257414.8_Silent_p.R280R|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.R280R|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 280 Sema. apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) AGCAGTTCAAGCGCGCCTTCA 0.473000 24 86 7.88262e-20 1.91526e-19 0.003330 1 0 NEB 4703 broad.mit.edu 37 2 152514544 152514544 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:152514544C>G ENST00000397345.3 - 48 6338 c.6136G>C c.(6136-6138)Gca>Cca p.A2046P NEB_ENST00000427231.2_Missense_Mutation_p.A2046P|NEB_ENST00000409198.1_Missense_Mutation_p.A2046P|NEB_ENST00000604864.1_Missense_Mutation_p.A2046P|NEB_ENST00000172853.10_Missense_Mutation_p.A2046P|NEB_ENST00000603639.1_Missense_Mutation_p.A2046P NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 2046 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ATAGGAATTGCATCAGGTCTG 0.413000 3 24 0 0 0.000248 0 0 CDH18 1016 broad.mit.edu 37 5 19473465 19473465 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:19473465C>A ENST00000507958.1 - 15 3233 c.2243G>T c.(2242-2244)gGg>gTg p.G748V CDH18_ENST00000274170.4_Missense_Mutation_p.G748V|CDH18_ENST00000382275.1_Missense_Mutation_p.G748V|CDH18_ENST00000510297.1_5'UTR Q13634 CAD18_HUMAN cadherin 18, type 2 748 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) GCTGATAGACCCAGCTTCTGA 0.468000 9 73 0.000673444 0.00110884 0.008291 1 0 CEP192 55125 broad.mit.edu 37 18 13049050 13049050 + Nonsense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr18:13049050G>T ENST00000506447.1 + 16 2340 c.2260G>T c.(2260-2262)Gag>Tag p.E754* CEP192_ENST00000430049.2_Nonsense_Mutation_p.E279*|CEP192_ENST00000325971.8_Nonsense_Mutation_p.E158* NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 349 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TCAGGAAGATGAGAAACAAAA 0.363000 8 60 1.12685e-05 2.03014e-05 0.004482 1 0 EPB41L4B 54566 broad.mit.edu 37 9 111976014 111976014 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr9:111976014C>A ENST00000374566.3 - 17 2235 c.1718G>T c.(1717-1719)gGa>gTa p.G573V NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 573 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AGGCCAGGGTCCAGCAGCCTT 0.537000 19 52 4.35082e-09 8.9301e-09 0.001523 1 0 CNTN1 1272 broad.mit.edu 37 12 41337841 41337841 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:41337841G>T ENST00000551295.2 + 14 1669 c.1552G>T c.(1552-1554)Gtt>Ttt p.V518F CNTN1_ENST00000348761.2_Missense_Mutation_p.V507F|CNTN1_ENST00000347616.1_Missense_Mutation_p.V518F|CNTN1_ENST00000360099.3_Missense_Mutation_p.V518F|CNTN1_ENST00000547849.1_Missense_Mutation_p.V518F|CNTN1_ENST00000547702.1_Missense_Mutation_p.V518F NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 518 Ig-like C2-type 6. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CGATATCACAGTTGGAGAAAA 0.378000 8 53 5.18039e-06 9.58266e-06 0.003080 1 0 SPEF2 79925 broad.mit.edu 37 5 35691318 35691318 + Silent SNP A A G rs117547956 by1000genomes TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:35691318A>G ENST00000440995.2 + 11 1704 c.1704A>G c.(1702-1704)acA>acG p.T568T SPEF2_ENST00000356031.3_Silent_p.T568T|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Silent_p.T568T Q9C093 SPEF2_HUMAN sperm flagellar 2 568 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity p.T568T(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGGGGAAAACATTAAGTGGAA 0.403000 26 117 0 0 0.003330 0 0 CSMD2 114784 broad.mit.edu 37 1 34158539 34158539 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:34158539C>T ENST00000373381.4 - 25 4219 c.4043G>A c.(4042-4044)tGc>tAc p.C1348Y CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.C221Y NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1308 CUB 8. 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) CCCAATGGTGCAGCCGGCCTC 0.567000 19 150 0 0 0.001882 0 0 DDX31 64794 broad.mit.edu 37 9 135522351 135522351 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr9:135522351C>A ENST00000372159.3 - 12 1528 c.1377G>T c.(1375-1377)gcG>gcT p.A459A DDX31_ENST00000438527.3_Silent_p.A330A|DDX31_ENST00000372153.1_Silent_p.A459A|DDX31_ENST00000310532.2_Silent_p.A459A NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 459 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) CCTCCTGGACCGCTTTGTCCT 0.517000 18 44 5.03518e-11 1.09604e-10 0.007413 1 0 APOB 338 broad.mit.edu 37 2 21245793 21245793 + Nonsense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:21245793G>T ENST00000233242.1 - 18 2853 c.2726C>A c.(2725-2727)tCg>tAg p.S909* NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 909 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTCCAGACCCGACTCGTGGAA 0.498000 11 66 3.07112e-06 5.73999e-06 0.000978 1 0 UNC119B 84747 broad.mit.edu 37 12 121154531 121154531 + Silent SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:121154531A>T ENST00000344651.4 + 3 499 c.459A>T c.(457-459)acA>acT p.T153T NM_001080533.1 NP_001074002.1 A6NIH7 U119B_HUMAN unc-119 homolog B (C. elegans) 153 breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GCCTCCGGACAGTCGGGGCTA 0.537000 17 156 0 0 0.007413 0 0 VPS54 51542 broad.mit.edu 37 2 64147084 64147084 + Silent SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:64147084T>A ENST00000354504.3 - 12 2227 c.1638A>T c.(1636-1638)gcA>gcT p.A546A VPS54_ENST00000272322.4_Silent_p.A699A|VPS54_ENST00000409558.3_Silent_p.A687A Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) 699 protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 CCTGAAATTCTGCAGGAACAT 0.388000 15 33 0 0 0.008871 0 0 C6orf10 10665 broad.mit.edu 37 6 32261152 32261152 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:32261152G>C ENST00000375015.4 - 26 1495 c.1295C>G c.(1294-1296)gCa>gGa p.A432G C6orf10_ENST00000533191.1_Missense_Mutation_p.A431G|C6orf10_ENST00000442822.2_Missense_Mutation_p.A424G|C6orf10_ENST00000527965.1_Missense_Mutation_p.A417G|C6orf10_ENST00000375007.4_Missense_Mutation_p.A431G|C6orf10_ENST00000447241.2_Missense_Mutation_p.A433G Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 433 integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 TGGCACATCTGCCTCAGTCTT 0.473000 40 152 0 0 0.008740 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106558280 106558280 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:106558280G>T ENST00000526355.1 - 8 2662 c.2194C>A c.(2194-2196)Ctc>Atc p.L732I GUCY1A2_ENST00000347596.2_Missense_Mutation_p.L753I|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.L763I NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 732 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding p.L732I(1) breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) AGGTCTCAGAGGCTTGTCTCC 0.488000 6 114 0.00448238 0.00713214 0.004482 1 0 ANO2 57101 broad.mit.edu 37 12 5685148 5685148 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:5685148G>T ENST00000327087.8 - 24 2544 c.2473C>A c.(2473-2475)Ccc>Acc p.P825T ANO2_ENST00000356134.5_Missense_Mutation_p.P826T|ANO2_ENST00000546188.1_Missense_Mutation_p.P826T Q9NQ90 ANO2_HUMAN anoctamin 2 830 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 ACCAGGCGGGGGATAAAGTCG 0.517000 5 17 1.23904e-05 2.21451e-05 0.000602 1 0 MMP16 4325 broad.mit.edu 37 8 89086839 89086839 + Missense_Mutation SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:89086839A>G ENST00000286614.6 - 7 1497 c.1216T>C c.(1216-1218)Ttt>Ctt p.F406L MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 406 Hemopexin-like 2. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TTACCTTTAAAGAACACAAAA 0.388000 6 61 0 0 0.001168 0 0 PHF23 79142 broad.mit.edu 37 17 7139375 7139375 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:7139375C>T ENST00000320316.3 - 4 1097 c.871G>A c.(871-873)Gaa>Aaa p.E291K PHF23_ENST00000454255.2_Missense_Mutation_p.E287K|PHF23_ENST00000571362.1_Missense_Mutation_p.E224K|PHF23_ENST00000576955.1_Missense_Mutation_p.E161K NM_024297.2 NP_077273.2 Q9BUL5 PHF23_HUMAN PHD finger protein 23 291 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 GGGACTCCTTCAGGGTGCACT 0.592000 16 141 0 0 0.006122 0 0 ZNF334 55713 broad.mit.edu 37 20 45130851 45130851 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:45130851G>A ENST00000457685.2 - 6 2336 c.1013C>T c.(1012-1014)cCa>cTa p.P338L ZNF334_ENST00000347606.4_Missense_Mutation_p.P376L|ZNF334_ENST00000593880.1_Missense_Mutation_p.P399L Q9HCZ1 ZN334_HUMAN zinc finger protein 334 376 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) ACATTCATTTGGCTTCTCTCC 0.438000 36 136 0 0 0.004878 0 0 AKT3 10000 broad.mit.edu 37 1 243778452 243778452 + Silent SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:243778452T>A ENST00000366539.1 - 7 773 c.573A>T c.(571-573)gcA>gcT p.A191A AKT3_ENST00000336199.5_Silent_p.A191A|AKT3_ENST00000366540.1_Silent_p.A191A|AKT3_ENST00000263826.5_Silent_p.A191A Q9Y243 AKT3_HUMAN v-akt murine thymoma viral oncogene homolog 3 191 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) TTAGAGTGTGTGCCACTTCAT 0.308000 9 34 0 0 0.004482 0 0 SMG8 55181 broad.mit.edu 37 17 57288807 57288807 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:57288807G>T ENST00000543872.2 + 2 1659 c.1395G>T c.(1393-1395)gaG>gaT p.E465D SMG8_ENST00000578922.1_Missense_Mutation_p.E465D|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.E465D Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 465 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 GGAAAGAAGAGGACTTGGGGT 0.418000 7 56 0.000157383 0.000267462 0.003080 1 0 PEX2 5828 broad.mit.edu 37 8 77895673 77895673 + Nonsense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:77895673C>A ENST00000419564.2 - 4 1206 c.742G>T c.(742-744)Gga>Tga p.G248* PEX2_ENST00000522527.1_Nonsense_Mutation_p.G248*|PEX2_ENST00000520103.1_Nonsense_Mutation_p.G248*|PEX2_ENST00000357039.4_Nonsense_Mutation_p.G248* NM_001172087.1 NP_001165558.1 P28328 PEX2_HUMAN peroxisomal biogenesis factor 2 248 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 14 GGCCACTCTCCACATAGAGCG 0.433000 34 64 9.65021e-13 2.16348e-12 0.002096 1 0 FCRL1 115350 broad.mit.edu 37 1 157771796 157771796 + Silent SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:157771796G>C ENST00000358292.3 - 5 846 c.795C>G c.(793-795)tcC>tcG p.S265S FCRL1_ENST00000491942.1_Silent_p.S265S|FCRL1_ENST00000368176.3_Silent_p.S265S|FCRL1_ENST00000489998.1_5'UTR NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 265 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CTTCAGTCAGGGAAAGGTTGA 0.567000 11 98 0 0 0.008291 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433740 73433740 + Silent SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:73433740G>T ENST00000263666.4 - 10 2091 c.1977C>A c.(1975-1977)gcC>gcA p.A659A PDZRN3_ENST00000462146.2_Silent_p.A316A|PDZRN3_ENST00000466780.1_Silent_p.A316A|PDZRN3_ENST00000535920.1_Silent_p.A381A|PDZRN3_ENST00000479530.1_Silent_p.A376A NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 659 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CGTAAGGGGTGGCGCTCTTCA 0.657000 8 54 5.4927e-09 1.12226e-08 0.004482 1 0 CYP3A5 1577 broad.mit.edu 37 7 99277499 99277499 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:99277499C>T ENST00000339843.2 - 1 122 c.21G>A c.(19-21)ttG>ttA p.L7L CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000343703.5_5'UTR|CYP3A5_ENST00000439761.1_Silent_p.L7L|CYP3A5_ENST00000222982.4_Silent_p.L7L cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) TTTCCACCGCCAAATTTGGGA 0.512000 25 97 0 0 0.004656 0 0 TYR 7299 broad.mit.edu 37 11 88924409 88924409 + Missense_Mutation SNP T T G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:88924409T>G ENST00000263321.5 + 2 1361 c.859T>G c.(859-861)Tct>Gct p.S287A TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 287 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) CAGCCATCAGTCTTTATGCAA 0.478000 6 79 0 0 0.001984 0 0 ITGAE 3682 broad.mit.edu 37 17 3657184 3657184 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:3657184G>A ENST00000263087.4 - 13 1518 c.1420C>T c.(1420-1422)Ctc>Ttc p.L474F NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 474 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) ATGTAGGAGAGGCTGCAGGTC 0.637000 9 37 0 0 0.002450 0 0 ALMS1 7840 broad.mit.edu 37 2 73651896 73651896 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:73651896C>T ENST00000264448.6 + 5 1214 c.1103C>T c.(1102-1104)tCa>tTa p.S368L ALMS1_ENST00000377715.1_Missense_Mutation_p.S368L|ALMS1_ENST00000409009.1_Missense_Mutation_p.S326L NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 368 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GATCAAGTTTCAGTTGCAACT 0.368000 9 28 0 0 0.006214 0 0 FRMPD4 9758 broad.mit.edu 37 X 12516808 12516808 + Silent SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:12516808G>C ENST00000380682.1 + 2 557 c.51G>C c.(49-51)acG>acC p.T17T NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 17 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 GCCACAGGACGAAGTCTTCAG 0.527000 16 24 0 0 0.006122 0 0 ZNF286A 57335 broad.mit.edu 37 17 15609728 15609728 + Missense_Mutation SNP A A C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:15609728A>C ENST00000464847.2 + 3 707 c.154A>C c.(154-156)Atg>Ctg p.M52L ZNF286A_ENST00000472486.1_Missense_Mutation_p.M42L|ZNF286A_ENST00000583566.1_Missense_Mutation_p.M52L|ZNF286A_ENST00000421016.1_Missense_Mutation_p.M52L|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000593105.1_Missense_Mutation_p.M42L|ZNF286A_ENST00000585194.1_Missense_Mutation_p.M52L|ZNF286A_ENST00000395893.2_Missense_Mutation_p.M52L|ZNF286A_ENST00000581529.1_Intron|ZNF286A_ENST00000413242.2_Missense_Mutation_p.M52L|ZNF286A_ENST00000580259.1_Intron|ZNF286A_ENST00000395894.2_Missense_Mutation_p.M52L Q9HBT8 Z286A_HUMAN zinc finger protein 286A 52 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781) GGATGTGGCCATGGACTTTAC 0.423000 3 69 0 0 0.004672 0 0 ANKRD27 84079 broad.mit.edu 37 19 33137521 33137521 + Splice_Site SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:33137521C>A ENST00000306065.4 - 4 372 c.213_splice c.e4-1 p.D72_splice ANKRD27_ENST00000586693.2_5'UTR|ANKRD27_ENST00000587352.1_Splice_Site_p.D72_splice NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 72 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) ATAAAGACATCCTGGAAACAA 0.488000 8 21 5.18039e-06 9.58266e-06 0.003080 1 0 MAST2 23139 broad.mit.edu 37 1 46500346 46500346 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:46500346C>A ENST00000361297.2 + 29 4288 c.4005C>A c.(4003-4005)cgC>cgA p.R1335R MAST2_ENST00000372009.2_Intron|MAST2_ENST00000372008.1_Intron NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 1335 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CTCCACGGCGCAAGTCAGCAG 0.687000 16 74 1.67942e-08 3.37762e-08 0.006122 1 0 B4GALT6 9331 broad.mit.edu 37 18 29210947 29210947 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr18:29210947C>A ENST00000306851.5 - 6 1047 c.751G>T c.(751-753)Gca>Tca p.A251S B4GALT6_ENST00000383131.3_Missense_Mutation_p.A212S|B4GALT6_ENST00000237019.7_Missense_Mutation_p.A212S NM_004775.3 NP_004766.2 Q9UBX8 B4GT6_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 251 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1) 20 OV - Ovarian serous cystadenocarcinoma(10;0.00791) TCCAGCTTTGCAGCAAAATGA 0.403000 9 64 3.07112e-06 5.73999e-06 0.000978 1 0 SPATA31A6 389730 broad.mit.edu 37 9 43625267 43625267 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr9:43625267C>G ENST00000332857.6 - 4 3448 c.3420G>C c.(3418-3420)caG>caC p.Q1140H NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 CGCCTTCATCCTGATGGGTGT 0.428000 33 80 0 0 0.003610 0 0 DMGDH 29958 broad.mit.edu 37 5 78301229 78301229 + Splice_Site SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:78301229G>A ENST00000255189.3 - 15 2280 c.2250_splice c.e15-1 p.P751_splice NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 751 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) GAAGTCTGCTGGCTGCAGGAA 0.433000 7 29 0 0 0.008291 0 0 MYH3 4621 broad.mit.edu 37 17 10538338 10538338 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:10538338T>C ENST00000583535.1 - 31 4262 c.4175A>G c.(4174-4176)aAa>aGa p.K1392R MYH3_ENST00000226209.7_Missense_Mutation_p.K1392R NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1392 KK -> QE (in Ref. 1; CAA32167 and 3; CAA31492). muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 AGCAAGTTTTTTCCTTAAAGA 0.418000 10 84 0 0 0.006214 0 0 JPH2 57158 broad.mit.edu 37 20 42815314 42815314 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:42815314C>T ENST00000372980.3 - 1 904 c.32G>A c.(31-33)gGa>gAa p.G11E JPH2_ENST00000342272.3_Missense_Mutation_p.G11E NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 11 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GTACGCCCCTCCATCATCAAA 0.637000 6 45 0 0 0.001168 0 0 PTPRF 5792 broad.mit.edu 37 1 44058193 44058193 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:44058193C>T ENST00000359947.4 + 11 2074 c.1734C>T c.(1732-1734)taC>taT p.Y578Y PTPRF_ENST00000372413.3_Silent_p.Y578Y|PTPRF_ENST00000372414.3_Silent_p.Y578Y|PTPRF_ENST00000438120.1_Silent_p.Y578Y|PTPRF_ENST00000422171.2_Silent_p.Y37Y NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 578 Fibronectin type-III 3. 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) ACACACTCTACCGCTTCCAGC 0.607000 14 98 0 0 0.004007 0 0 ZNF682 91120 broad.mit.edu 37 19 20117592 20117592 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:20117592C>A ENST00000397165.2 - 4 879 c.719G>T c.(718-720)tGg>tTg p.W240L ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.W164L|ZNF682_ENST00000397162.1_Missense_Mutation_p.W208L|ZNF682_ENST00000358523.5_Missense_Mutation_p.W208L|ZNF682_ENST00000597972.1_Missense_Mutation_p.W246L NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 ACTCGAGCACCAGTTAAAAGC 0.388000 5 25 8.12818e-05 0.000140254 0.001984 1 0 TNKS 8658 broad.mit.edu 37 8 9609305 9609305 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:9609305G>C ENST00000310430.6 + 19 3045 c.3019G>C c.(3019-3021)Gcc>Ccc p.A1007P TNKS_ENST00000518281.1_Missense_Mutation_p.A770P NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 1007 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) CGTAGGAGGAGCCTCCAATGC 0.542000 9 100 0 0 0.008291 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44612781 44612781 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:44612781G>A ENST00000273320.3 + 6 2608 c.2179G>A c.(2179-2181)Gcc>Acc p.A727T ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.A727T NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 ATGTGGGAAAGCCTTTAGTCA 0.458000 7 114 0 0 0.001984 0 0 NUP210L 91181 broad.mit.edu 37 1 154042923 154042923 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:154042923T>A ENST00000368559.3 - 17 2451 c.2380A>T c.(2380-2382)Agg>Tgg p.R794W NUP210L_ENST00000271854.3_Missense_Mutation_p.R794W NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 794 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) ACTGTGTCCCTCAGTCTTGAT 0.338000 9 19 0 0 0.008291 0 0 CSMD2 114784 broad.mit.edu 37 1 34258104 34258104 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:34258104C>A ENST00000373381.4 - 11 1646 c.1470G>T c.(1468-1470)gaG>gaT p.E490D CSMD2_ENST00000338325.1_Missense_Mutation_p.E98D NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 450 CUB 3. 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) CCAAATCAAACTCCTCAAAGG 0.552000 6 60 0.00198382 0.00319043 0.001984 1 0 ZNF571 51276 broad.mit.edu 37 19 38055732 38055732 + Missense_Mutation SNP T T G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:38055732T>G ENST00000328550.2 - 4 1697 c.1598A>C c.(1597-1599)aAa>aCa p.K533T ZNF571_ENST00000451802.2_Missense_Mutation_p.K533T|ZNF571_ENST00000358744.3_Missense_Mutation_p.K533T|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.K533T|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA Q7Z3V5 ZN571_HUMAN zinc finger protein 571 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 25 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCCACACTGTTTACATTCATA 0.418000 5 75 0 0 0.000602 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69101984 69101984 + Splice_Site SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr4:69101984T>C ENST00000332644.5 - 3 286 c.124_splice c.e3-1 p.E42_splice NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 42 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 GTAAGTCTTCTCTGCAAAATT 0.338000 6 11 0 0 0.001168 0 0 CNTN1 1272 broad.mit.edu 37 12 41374759 41374759 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:41374759C>T ENST00000551295.2 + 16 1970 c.1853C>T c.(1852-1854)aCt>aTt p.T618I CNTN1_ENST00000348761.2_Missense_Mutation_p.T607I|CNTN1_ENST00000347616.1_Missense_Mutation_p.T618I NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 618 Fibronectin type-III 1. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) ATTAGAGCCACTTCTGTGGCA 0.428000 19 133 0 0 0.006122 0 0 MC3R 4159 broad.mit.edu 37 20 54824181 54824181 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:54824181G>T ENST00000243911.2 + 1 394 c.282G>T c.(280-282)gaG>gaT p.E94D NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 131 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) ATGCCCTGGAGACCATCATGA 0.562000 14 61 4.93089e-13 1.12225e-12 0.002450 1 0 PTPRB 5787 broad.mit.edu 37 12 71029521 71029521 + Silent SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:71029521G>T ENST00000334414.6 - 2 425 c.381C>A c.(379-381)ctC>ctA p.L127L PTPRB_ENST00000551525.1_Silent_p.L126L|PTPRB_ENST00000550358.1_Silent_p.L127L|PTPRB_ENST00000538174.2_5'UTR NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 2. S -> G (in dbSNP:rs2465811). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TCCAGCTATGGAGGTATTTCC 0.448000 8 45 0.000157383 0.000267462 0.003080 1 0 MIR520A 574467 broad.mit.edu 37 19 54194189 54194189 + RNA SNP A A C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:54194189A>C ENST00000384862.1 + 0 55 NR_030189.1 GAGAAAAGAAAGTGCTTCCCT 0.453000 17 133 0 0 0.007413 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808631 18808631 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:18808631G>T ENST00000400664.1 + 1 1208 c.1156G>T c.(1156-1158)Gct>Tct p.A386S NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 386 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCGGCTCCCCGCTCCACCCTG 0.677000 6 21 3.59834e-05 6.30586e-05 0.001168 1 0 ST3GAL1 6482 broad.mit.edu 37 8 134474191 134474191 + Nonsense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:134474191C>T ENST00000319914.5 - 8 1803 c.776G>A c.(775-777)tGg>tAg p.W259* ST3GAL1_ENST00000522652.1_Nonsense_Mutation_p.W259*|ST3GAL1_ENST00000521180.1_Nonsense_Mutation_p.W259*|ST3GAL1_ENST00000399640.2_Nonsense_Mutation_p.W259* Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 1 259 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) CCCTTGCAGCCAGTTGTCAAA 0.572000 5 115 0 0 0.001168 0 0 ZNF654 55279 broad.mit.edu 37 3 88189288 88189288 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:88189288C>T ENST00000309495.5 + 1 1035 c.828C>T c.(826-828)aaC>aaT p.N276N CGGBP1_ENST00000462901.1_Intron NM_018293.2 NP_060763.2 Q8IZM8 ZN654_HUMAN zinc finger protein 654 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3) 12 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) TTAATTGCAACGAGTCGTTTA 0.373000 7 101 0 0 0.003080 0 0 GPRIN1 114787 broad.mit.edu 37 5 176024906 176024906 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:176024906C>A ENST00000303991.4 - 2 2107 c.1930G>T c.(1930-1932)Ggg>Tgg p.G644W NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 644 growth cone|plasma membrane NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCTCTTGCCCAGGGAGCTTT 0.582000 11 31 3.07112e-06 5.73999e-06 0.000978 1 0 SGOL2 151246 broad.mit.edu 37 2 201437173 201437173 + Nonsense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:201437173C>T ENST00000357799.4 + 7 2202 c.2104C>T c.(2104-2106)Cag>Tag p.Q702* NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 702 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 GTACCCCGTTCAGCAAAATGA 0.343000 8 41 0 0 0.003080 0 0 OR51G1 79324 broad.mit.edu 37 11 4944943 4944943 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:4944943C>A ENST00000321961.2 - 1 694 c.627G>T c.(625-627)gtG>gtT p.V209V MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTCCACACCCACGGTGCAGG 0.547000 10 70 3.07112e-06 5.73999e-06 0.000978 1 0 PSG8 440533 broad.mit.edu 37 19 43359741 43359741 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:43359741G>T ENST00000401467.2 - 1 102 c.31C>A c.(31-33)Cag>Aag p.Q11K PSG10P_ENST00000597171.1_RNA Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 11 TQR -> MQH (in Ref. 2; CAH18672). extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TTGATGTGCTGTGTGCAGGGA 0.582000 20 148 0.00332997 0.00532677 0.003330 1 0 NPIPA5 100288332 broad.mit.edu 37 16 15457672 15457672 + Silent SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr16:15457672G>T ENST00000360151.4 - 8 896 c.897C>A c.(895-897)ccC>ccA p.P299P NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 CATCCGCTGAGGGTAGAGCTG 0.572000 9 90 0.00621372 0.00980023 0.006214 1 0 PLEKHG2 64857 broad.mit.edu 37 19 39914269 39914269 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:39914269C>T ENST00000425673.1 + 16 2813 c.2488C>T c.(2488-2490)Ctg>Ttg p.L830L PLEKHG2_ENST00000458508.2_Silent_p.L800L|PLEKHG2_ENST00000409794.3_Silent_p.L859L|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 859 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) ATCCCCCTGTCTGCCCCAGGA 0.672000 4 13 0 0 0.000248 0 0 DNAH3 55567 broad.mit.edu 37 16 21031029 21031029 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr16:21031029C>A ENST00000261383.3 - 41 5938 c.5939G>T c.(5938-5940)cGc>cTc p.R1980L DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1980 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GATCAGGTTGCGGAAAAACAC 0.453000 7 56 8.12818e-05 0.000140254 0.001984 1 0 MMP2 4313 broad.mit.edu 37 16 55522585 55522585 + Silent SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr16:55522585G>A ENST00000219070.4 + 6 1472 c.963G>A c.(961-963)gaG>gaA p.E321E MMP2_ENST00000543485.1_Silent_p.E245E|MMP2_ENST00000437642.2_Silent_p.E271E|MMP2_ENST00000570308.1_Silent_p.E245E NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 321 Collagen-binding.|Fibronectin type-II 2. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) GCACCACTGAGGACTACGACC 0.612000 4 11 0 0 0.000602 0 0 ACTRT3 84517 broad.mit.edu 37 3 169485988 169485988 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:169485988C>A ENST00000330368.2 - 2 725 c.351G>T c.(349-351)caG>caT p.Q117H NM_032487.4 NP_115876.3 Q9BYD9 ARPM1_HUMAN actin-related protein T3 117 cytoplasm|cytoskeleton TTTCCGTGATCTGTTGCCGGT 0.507000 9 39 2.17888e-05 3.86353e-05 0.006214 1 0 OR1A1 8383 broad.mit.edu 37 17 3119399 3119399 + Missense_Mutation SNP T T G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:3119399T>G ENST00000304094.1 + 1 485 c.485T>G c.(484-486)cTc>cGc p.L162R NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 CACACTCTGCTCACAGCTAGT 0.488000 4 74 0 0 0.000248 0 0 MYH10 4628 broad.mit.edu 37 17 8445459 8445459 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:8445459T>C ENST00000360416.3 - 14 1709 c.1571A>G c.(1570-1572)gAt>gGt p.D524G MYH10_ENST00000269243.4_Missense_Mutation_p.D514G|MYH10_ENST00000396239.1_Missense_Mutation_p.D514G|MYH10_ENST00000379980.4_Missense_Mutation_p.D530G NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 514 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TGGCTGCAGATCCAGCCCGAA 0.488000 5 68 0 0 0.000602 0 0 GTF2F1 2962 broad.mit.edu 37 19 6380350 6380350 + Missense_Mutation SNP C C T rs149599017 by1000genomes TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:6380350C>T ENST00000394456.5 - 13 1960 c.1496G>A c.(1495-1497)cGa>cAa p.R499Q GTF2F1_ENST00000429701.2_Missense_Mutation_p.R414Q NM_002096.2 NP_002087.2 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 74kDa 499 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4) 16 GGGGTTGAGTCGCTTGAGGAT 0.537000 6 204 0 0 0.001984 0 0 EPB41 2035 broad.mit.edu 37 1 29435868 29435868 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:29435868C>T ENST00000343067.4 + 18 2461 c.2334C>T c.(2332-2334)gaC>gaT p.D778D EPB41_ENST00000373800.3_Intron|EPB41_ENST00000349460.4_Silent_p.D555D|EPB41_ENST00000347529.3_Silent_p.D689D|EPB41_ENST00000356093.2_Silent_p.D745D|EPB41_ENST00000398863.2_Silent_p.D681D|EPB41_ENST00000373798.1_Silent_p.D778D|EPB41_ENST00000460378.1_3'UTR NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 778 Carboxyl-terminal (CTD). blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) ACAGTGGAGACTTGGACCCAG 0.502000 8 81 0 0 0.003080 0 0 ZNF134 7693 broad.mit.edu 37 19 58132553 58132553 + Missense_Mutation SNP A A C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:58132553A>C ENST00000396161.5 + 3 1376 c.1066A>C c.(1066-1068)Agt>Cgt p.S356R NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 356 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) CTTTAGTCGAAGTTCTGACTA 0.438000 6 109 0 0 0.001168 0 0 LYPD3 27076 broad.mit.edu 37 19 43967379 43967379 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:43967379C>T ENST00000244333.3 - 4 531 c.443G>A c.(442-444)cGg>cAg p.R148Q NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 148 UPAR/Ly6 2. anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) GCACGCCTCCCGGCTCAGGCC 0.622000 8 68 0 0 0.006214 0 0 NOS1 4842 broad.mit.edu 37 12 117658026 117658026 + Nonsense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:117658026G>A ENST00000317775.6 - 27 4709 c.4024C>T c.(4024-4026)Cga>Tga p.R1342* NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Nonsense_Mutation_p.R1376* NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1342 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TTCAGGGCTCGGTACACAGAC 0.607000 7 180 0 0 0.004482 0 0 DACH2 117154 broad.mit.edu 37 X 86069788 86069788 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:86069788G>T ENST00000373131.1 + 9 1759 c.1596G>T c.(1594-1596)caG>caT p.Q532H DACH2_ENST00000510272.1_Missense_Mutation_p.Q326H|DACH2_ENST00000477378.2_Intron|DACH2_ENST00000373125.4_Missense_Mutation_p.Q545H|DACH2_ENST00000508860.1_Missense_Mutation_p.Q378H NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 545 DACHbox-C. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 AAGTGGAGCAGGCACTTAAGC 0.438000 10 14 2.80697e-09 5.81445e-09 0.000978 1 0 DNM3 26052 broad.mit.edu 37 1 172017776 172017776 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:172017776G>A ENST00000358155.4 + 10 1397 c.1221G>A c.(1219-1221)atG>atA p.M407I DNM3_ENST00000355305.5_Missense_Mutation_p.M407I|DNM3_ENST00000520906.1_Missense_Mutation_p.M407I|DNM3_ENST00000367733.2_Missense_Mutation_p.M407I|DNM3_ENST00000367731.1_Missense_Mutation_p.M407I NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 407 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CTCCAGACATGGCATTTGAAG 0.353000 15 62 0 0 0.004007 0 0 C16orf62 57020 broad.mit.edu 37 16 19639973 19639973 + Silent SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr16:19639973A>G ENST00000438132.3 + 17 1713 c.1665A>G c.(1663-1665)cgA>cgG p.R555R C16orf62_ENST00000543152.1_Silent_p.R215R|C16orf62_ENST00000542263.1_Silent_p.R488R|C16orf62_ENST00000448695.1_Silent_p.R316R|C16orf62_ENST00000417362.2_Silent_p.R399R|C16orf62_ENST00000251143.5_Silent_p.R466R NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 466 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TTCTTTTTCGATCACTGGGAT 0.383000 14 108 0 0 0.001855 0 0 GZMA 3001 broad.mit.edu 37 5 54405942 54405942 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:54405942G>T ENST00000274306.6 + 5 756 c.721G>T c.(721-723)Ggt>Tgt p.G241C NM_006144.3 NP_006135.1 P12544 GRAA_HUMAN granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) 241 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 25 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) TCGTGGGCCTGGTGTCTATAT 0.458000 20 51 3.7963e-18 9.02878e-18 0.003330 1 0 EHBP1 23301 broad.mit.edu 37 2 63176133 63176133 + Missense_Mutation SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:63176133A>G ENST00000263991.5 + 14 2739 c.2257A>G c.(2257-2259)Atc>Gtc p.I753V EHBP1_ENST00000405015.3_Missense_Mutation_p.I718V|EHBP1_ENST00000431489.1_Missense_Mutation_p.I718V|EHBP1_ENST00000354487.3_Missense_Mutation_p.I718V|EHBP1_ENST00000405289.1_Missense_Mutation_p.I718V NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 753 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) AGAATCTCCTATCAAAAAAAC 0.368000 7 34 0 0 0.001984 0 0 ANGEL2 90806 broad.mit.edu 37 1 213181662 213181662 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:213181662C>G ENST00000366962.3 - 3 686 c.532G>C c.(532-534)Gat>Cat p.D178H ANGEL2_ENST00000540642.1_Missense_Mutation_p.D52H|ANGEL2_ENST00000360506.2_Missense_Mutation_p.D9H|ANGEL2_ENST00000535388.1_Missense_Mutation_p.D9H|ANGEL2_ENST00000544555.1_Missense_Mutation_p.D9H NM_144567.3 NP_653168.2 Q5VTE6 ANGE2_HUMAN angel homolog 2 (Drosophila) 178 central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) TCCAGTAAATCTTGTGAAAGT 0.353000 7 75 0 0 0.004482 0 0 MDM4 4194 broad.mit.edu 37 1 204512011 204512011 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:204512011G>T ENST00000367182.3 + 8 773 c.611G>T c.(610-612)gGa>gTa p.G204V MDM4_ENST00000367183.3_Intron|MDM4_ENST00000454264.2_Missense_Mutation_p.G204V|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000391947.2_3'UTR NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4 NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2 O15151 MDM4_HUMAN Mdm4 p53 binding protein homolog (mouse) 204 apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) TGGTTTTTAGGAAACTTGAGA 0.388000 A """GBM, bladder, retinoblastoma""" 15 68 2.35188e-11 5.14438e-11 0.006122 1 0 RTTN 25914 broad.mit.edu 37 18 67863750 67863750 + Silent SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr18:67863750G>A ENST00000255674.6 - 7 1114 c.828C>T c.(826-828)ttC>ttT p.F276F RTTN_ENST00000437017.1_Silent_p.F276F|RTTN_ENST00000454359.1_Silent_p.F276F NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 276 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GTTTATTGGAGAAAAAACCTG 0.398000 4 58 0 0 0.000248 0 0 CACNA1S 779 broad.mit.edu 37 1 201020122 201020122 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:201020122C>T ENST00000362061.3 - 33 4329 c.4103G>A c.(4102-4104)tGt>tAt p.C1368Y CACNA1S_ENST00000367338.3_Missense_Mutation_p.C1349Y NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1368 Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CAGGAAGGCACAGAGCATGTA 0.582000 10 93 0 0 0.008291 0 0 MNDA 4332 broad.mit.edu 37 1 158815659 158815659 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:158815659T>C ENST00000368141.4 + 5 1114 c.853T>C c.(853-855)Tct>Cct p.S285P NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 285 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) GGAAGCATCATCTGTGTCTGA 0.348000 4 75 0 0 0.000248 0 0 HYDIN 54768 broad.mit.edu 37 16 70935048 70935048 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr16:70935048C>T ENST00000393567.2 - 53 9057 c.8907G>A c.(8905-8907)cgG>cgA p.R2969R NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2969 p.R2968R(1)|p.R2920R(1)|p.R526R(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GGCTGGTGATCCGCCAGGCCA 0.527000 5 65 0 0 0.004482 0 0 POLR1A 25885 broad.mit.edu 37 2 86258615 86258615 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:86258615C>G ENST00000263857.6 - 30 4794 c.4416G>C c.(4414-4416)gaG>gaC p.E1472D POLR1A_ENST00000409681.1_Intron O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1472 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GGGACGGGTCCTCCTCAGTGC 0.642000 8 110 0 0 0.004482 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21036415 21036415 + Silent SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:21036415T>C ENST00000381545.3 + 13 1780 c.1561T>C c.(1561-1563)Ttg>Ctg p.L521L SLCO1B3_ENST00000261196.2_Silent_p.L521L|LST3_ENST00000540229.1_Silent_p.L521L|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.L521L|LST3_ENST00000381541.3_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 521 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) CTCAGCACACTTGGGTGAATG 0.343000 3 53 0 0 0.004672 0 0 ITGB2 3689 broad.mit.edu 37 21 46321419 46321419 + Silent SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr21:46321419G>C ENST00000397850.2 - 7 1181 c.729C>G c.(727-729)gtC>gtG p.V243V ITGB2_ENST00000397857.1_Silent_p.V243V|ITGB2_ENST00000397854.3_Silent_p.V186V|ITGB2_ENST00000302347.5_Silent_p.V243V|ITGB2_ENST00000355153.4_Silent_p.V243V|ITGB2_ENST00000397852.1_Silent_p.V243V P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 243 VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) GGCAGGCGGCGACCTGCATCA 0.667000 10 32 0 0 0.000978 0 0 FHL5 9457 broad.mit.edu 37 6 97063517 97063517 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:97063517G>C ENST00000326771.2 + 7 1104 c.724G>C c.(724-726)Gac>Cac p.D242H FHL5_ENST00000541107.1_Missense_Mutation_p.D242H NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 242 LIM zinc-binding 4. nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) CTGCTTTCAAGACAGCCAGTG 0.438000 3 71 0 0 0.004672 0 0 SPDL1 54908 broad.mit.edu 37 5 169021607 169021607 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:169021607G>C ENST00000265295.4 + 7 1092 c.813G>C c.(811-813)caG>caC p.Q271H SPDL1_ENST00000510751.1_3'UTR NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 TGGAACGTCAGCTCATCAGTA 0.343000 4 36 0 0 0.000602 0 0 UGT1A7 54577 broad.mit.edu 37 2 234590659 234590659 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:234590659G>T ENST00000373426.3 + 1 76 c.76G>T c.(76-78)Ggg>Tgg p.G26W UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron NM_019077.2 NP_061950.2 NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1) 33 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) TGCCAAGGCAGGGAAGCTGCT 0.582000 17 125 6.94344e-10 1.47221e-09 0.006122 1 0 ZFP64 55734 broad.mit.edu 37 20 50782517 50782517 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:50782517G>A ENST00000216923.4 - 3 683 c.334C>T c.(334-336)Ccc>Tcc p.P112S ZFP64_ENST00000371518.2_Missense_Mutation_p.P112S|ZFP64_ENST00000361387.2_Missense_Mutation_p.P112S|ZFP64_ENST00000346617.4_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.P110S|ZFP64_ENST00000477786.1_5'UTR NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 CTTTCCGTGGGCAGGTAAGTT 0.413000 13 48 0 0 0.002450 0 0 UMOD 7369 broad.mit.edu 37 16 20352616 20352616 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr16:20352616C>T ENST00000396134.2 - 8 1596 c.1473G>A c.(1471-1473)gtG>gtA p.V491V UMOD_ENST00000396138.4_Silent_p.V507V|UMOD_ENST00000396142.2_Silent_p.V458V|UMOD_ENST00000302509.4_Silent_p.V458V|UMOD_ENST00000570689.1_Silent_p.V458V|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Silent_p.V491V NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 458 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 GCGCCATCCGCACGGTGAACA 0.597000 5 39 0 0 0.000602 0 0 VSTM2A 222008 broad.mit.edu 37 7 54636714 54636714 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:54636714C>G ENST00000407838.3 + 5 1053 c.647C>G c.(646-648)gCt>gGt p.A216G VSTM2A_ENST00000402613.3_Intron|VSTM2A_ENST00000404951.1_Intron|GS1-18A18.1_ENST00000456049.1_RNA|VSTM2A_ENST00000498834.1_Intron NM_182546.2 NP_872352.2 Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 216 extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) GCGAGGATAGCTACAAGCCAT 0.378000 7 9 0 0 0.003080 0 0 OR4D9 390199 broad.mit.edu 37 11 59283148 59283148 + Missense_Mutation SNP A A C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:59283148A>C ENST00000329328.3 + 1 763 c.763A>C c.(763-765)Atc>Ctc p.I255L NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I255F(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 CGTGCCCTGCATCTATGTCTA 0.547000 12 230 0 0 0.001855 0 0 TEPP 374739 broad.mit.edu 37 16 58011780 58011780 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr16:58011780C>A ENST00000290871.5 + 2 262 c.225C>A c.(223-225)tcC>tcA p.S75S TEPP_ENST00000441824.2_Silent_p.S75S|TEPP_ENST00000569996.1_Intron NM_199046.2 NP_950247.2 Q6URK8 TEPP_HUMAN testis, prostate and placenta expressed 75 extracellular region central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 8 TGTATGCCTCCCCGGCCATCC 0.662000 13 97 0.00244969 0.00393264 0.002450 1 0 PTPRC 5788 broad.mit.edu 37 1 198687428 198687428 + Silent SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:198687428T>C ENST00000367376.2 + 14 1821 c.1650T>C c.(1648-1650)ttT>ttC p.F550F PTPRC_ENST00000442510.2_Silent_p.F552F|PTPRC_ENST00000352140.3_Silent_p.F502F|PTPRC_ENST00000594404.1_Silent_p.F389F|PTPRC_ENST00000348564.6_Silent_p.F391F NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 550 Fibronectin type-III 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 ACTACACTTTTAAGGTAAAAG 0.323000 3 19 0 0 0.004672 0 0 OR51F1 256892 broad.mit.edu 37 11 4790811 4790811 + Nonsense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:4790811C>A ENST00000380383.1 - 1 357 c.358G>T c.(358-360)Gaa>Taa p.E120* MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Nonsense_Mutation_p.E113*|MMP26_ENST00000477339.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 113 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) ACTCCAGATTCCATAAAAGTG 0.418000 12 29 7.03913e-09 1.43171e-08 0.001368 1 0 OR6N2 81442 broad.mit.edu 37 1 158747383 158747383 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:158747383G>T ENST00000339258.1 - 1 42 c.43C>A c.(43-45)Ctt>Att p.L15I NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) GCAAAGCCAAGGAACACAAAT 0.463000 12 80 5.50884e-06 1.00659e-05 0.001368 1 0 SCUBE2 57758 broad.mit.edu 37 11 9052304 9052304 + Splice_Site SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:9052304C>A ENST00000457346.2 - 18 2416 c.e18+1 SCUBE2_ENST00000309263.3_Splice_Site|SCUBE2_ENST00000450649.2_Splice_Site|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Splice_Site Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) CAAGTACTCACCTCTGGTTTC 0.537000 13 111 1.3612e-06 2.60921e-06 0.003163 1 0 SLC2A10 81031 broad.mit.edu 37 20 45354843 45354843 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:45354843G>T ENST00000359271.2 + 2 1418 c.1168G>T c.(1168-1170)Gcc>Tcc p.A390S NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 390 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) TCCTCGGCTGGCCCTGAGCTC 0.627000 8 45 0.00621372 0.00980023 0.006214 1 0 USP28 57646 broad.mit.edu 37 11 113683174 113683174 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:113683174C>A ENST00000003302.4 - 16 1864 c.1796G>T c.(1795-1797)gGa>gTa p.G599V USP28_ENST00000545540.1_Missense_Mutation_p.G474V|USP28_ENST00000544967.1_Missense_Mutation_p.G307V|USP28_ENST00000260188.5_Missense_Mutation_p.G599V NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 599 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) CCAATAGTGTCCAGCATTTGC 0.433000 20 114 1.10923e-09 2.32447e-09 0.002780 1 0 TAL1 6886 broad.mit.edu 37 1 47685793 47685793 + Silent SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:47685793G>T ENST00000371883.3 - 4 1177 c.601C>A c.(601-603)Cgg>Agg p.R201R TAL1_ENST00000294339.3_Silent_p.R199R|TAL1_ENST00000371884.2_Silent_p.R199R|TAL1_ENST00000459729.1_5'UTR P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 199 Helix-loop-helix motif. basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 TTCTGCTGCCGCCATCGCTCC 0.577000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 11 39 1.08611e-07 2.12263e-07 0.000978 1 0 MINK1 50488 broad.mit.edu 37 17 4797591 4797591 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:4797591G>T ENST00000355280.6 + 23 2989 c.2793G>T c.(2791-2793)aaG>aaT p.K931N MINK1_ENST00000347992.7_Missense_Mutation_p.K902N|MINK1_ENST00000453408.3_Missense_Mutation_p.K911N NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 931 Mediates interaction with RAP2A. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CACCCTCGAAGGATGGGAGTG 0.632000 10 22 1.08611e-07 2.12263e-07 0.000978 1 0 KBTBD8 84541 broad.mit.edu 37 3 67053770 67053770 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:67053770G>T ENST00000295568.4 + 3 432 c.301G>T c.(301-303)Gct>Tct p.A101S KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000469661.1_Intron|KBTBD8_ENST00000417314.2_Missense_Mutation_p.A127S NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 127 BTB. breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) GTTCACTGCAGCTAGCATCTT 0.418000 18 94 5.35267e-07 1.03485e-06 0.007413 1 0 TMEM55A 55529 broad.mit.edu 37 8 92007983 92007983 + Silent SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:92007983G>A ENST00000285419.3 - 7 1010 c.696C>T c.(694-696)ctC>ctT p.L232L NM_018710.2 NP_061180.1 Q8N4L2 TM55A_HUMAN transmembrane protein 55A 232 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(11;0.033) TCAATCCTAGGAGATAAGCAA 0.378000 30 36 0 0 0.007291 0 0 ATRX 546 broad.mit.edu 37 X 76937395 76937395 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:76937395T>C ENST00000373344.5 - 9 3567 c.3353A>G c.(3352-3354)aAa>aGa p.K1118R ATRX_ENST00000395603.3_Missense_Mutation_p.K1080R|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1118 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ACCATCTTCTTTCATGGAATA 0.343000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 4 110 0 0 0.000248 0 0 OR4C16 219428 broad.mit.edu 37 11 55339778 55339778 + Missense_Mutation SNP T T G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:55339778T>G ENST00000314634.3 + 1 175 c.175T>G c.(175-177)Ttc>Gtc p.F59V NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) CCCAATGTTCTTCTTCCTTTT 0.388000 6 145 0 0 0.001984 0 0 KDM5B 10765 broad.mit.edu 37 1 202702845 202702845 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:202702845G>C ENST00000367265.3 - 23 4757 c.3593C>G c.(3592-3594)gCt>gGt p.A1198G KDM5B_ENST00000367264.2_Missense_Mutation_p.A1234G NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1198 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 GGTGTGGAAAGCATCCCTGCA 0.502000 7 63 0 0 0.003080 0 0 ANK2 287 broad.mit.edu 37 4 114274375 114274375 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr4:114274375T>A ENST00000357077.4 + 38 4654 c.4601T>A c.(4600-4602)gTg>gAg p.V1534E ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.V1501E|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1501 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCTATTAAAGTGAAGGAGCTG 0.433000 18 41 0 0 0.006122 0 0 ZNF573 126231 broad.mit.edu 37 19 38262290 38262290 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:38262290C>G ENST00000590414.2 - 2 137 c.116G>C c.(115-117)cGg>cCg p.R39P ZNF573_ENST00000536220.1_5'UTR|ZNF573_ENST00000357309.3_Intron|ZNF573_ENST00000392138.1_5'UTR|ZNF573_ENST00000339503.4_5'UTR|ZNF573_ENST00000585724.1_Intron Q86YE8 ZN573_HUMAN zinc finger protein 573 19 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) CCACTCCTGCCGAGAGAAGTC 0.403000 10 21 0 0 0.008291 0 0 NLRP8 126205 broad.mit.edu 37 19 56490773 56490773 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:56490773C>T ENST00000291971.3 + 9 2961 c.2890C>T c.(2890-2892)Ctg>Ttg p.L964L NLRP8_ENST00000590542.1_Silent_p.L945L NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 964 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GGAAAACTGCCTGTTCACCTC 0.517000 18 105 0 0 0.006122 0 0 ZBBX 79740 broad.mit.edu 37 3 167068230 167068230 + Missense_Mutation SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:167068230A>G ENST00000392766.2 - 9 846 c.506T>C c.(505-507)cTc>cCc p.L169P ZBBX_ENST00000307529.5_Missense_Mutation_p.L169P|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.L169P|ZBBX_ENST00000392767.2_Missense_Mutation_p.L169P|ZBBX_ENST00000392764.1_Missense_Mutation_p.L140P NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 169 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TGTTCTGTGGAGCTTTAGTGC 0.313000 7 214 0 0 0.003080 0 0 TSPAN14 81619 broad.mit.edu 37 10 82267000 82267000 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr10:82267000T>A ENST00000429989.2 + 4 372 c.149T>A c.(148-150)cTc>cAc p.L50H TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372158.1_Missense_Mutation_p.L50H|TSPAN14_ENST00000341863.6_Missense_Mutation_p.L50H|TSPAN14_ENST00000372164.3_Missense_Mutation_p.L33H|TSPAN14_ENST00000372156.1_Missense_Mutation_p.L50H NM_030927.2 NP_112189.2 Q8NG11 TSN14_HUMAN tetraspanin 14 50 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 Colorectal(32;0.229) CTGTCCGACCTCACCAAAGTG 0.617000 4 35 0 0 0.000248 0 0 PRIM2 5558 broad.mit.edu 37 6 57398175 57398175 + Missense_Mutation SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:57398175A>T ENST00000607273.1 + 10 965 c.878A>T c.(877-879)aAa>aTa p.K293I PRIM2_ENST00000389488.2_3'UTR NM_000947.2 NP_000938.2 P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) 293 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) CAGTTACATAAAGCCTTGCGG 0.403000 30 164 0 0 0.002836 0 0 LRP1B 53353 broad.mit.edu 37 2 141113940 141113940 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:141113940T>A ENST00000389484.3 - 75 12472 c.11501A>T c.(11500-11502)cAg>cTg p.Q3834L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3834 EGF-like 8. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATGTTTCTCTGAAATCCAGG 0.343000 TSP Lung(27;0.18) 10 62 0 0 0.000978 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723389 58723389 + Silent SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:58723389G>C ENST00000300079.5 + 7 941 c.891G>C c.(889-891)gtG>gtC p.V297V RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Silent_p.V266V NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 266 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) ACATCTCTGTGTTGGAAGAAA 0.458000 4 41 0 0 0.000602 0 0 HECW1 23072 broad.mit.edu 37 7 43503287 43503287 + Missense_Mutation SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:43503287A>G ENST00000395891.1 + 14 3285 c.2680A>G c.(2680-2682)Aca>Gca p.T894A HECW1_ENST00000453890.1_Missense_Mutation_p.T860A NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 894 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 AACCATTGCAACAGAGAGGTC 0.502000 9 71 0 0 0.006214 0 0 LAMC1 3915 broad.mit.edu 37 1 183085945 183085945 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:183085945G>A ENST00000258341.4 + 8 1728 c.1471G>A c.(1471-1473)Ggt>Agt p.G491S NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 491 Laminin EGF-like 4. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TAATCCTCGGGGTTGCACACC 0.373000 4 66 0 0 0.000248 0 0 EXO1 9156 broad.mit.edu 37 1 242035554 242035554 + Silent SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:242035554A>T ENST00000366548.3 + 12 2081 c.1488A>T c.(1486-1488)gcA>gcT p.A496A EXO1_ENST00000348581.5_Silent_p.A496A|EXO1_ENST00000518483.1_Silent_p.A496A NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 496 meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) AAAGTGGTGCAGTTGTGGTTC 0.358000 Editing and processing nucleases 16 73 0 0 0.001882 0 0 MID2 11043 broad.mit.edu 37 X 107169959 107169959 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:107169959G>C ENST00000262843.6 + 10 2412 c.1864G>C c.(1864-1866)Gcc>Ccc p.A622P MID2_ENST00000443968.2_Missense_Mutation_p.A592P|RP6-191P20.4_ENST00000430140.1_RNA NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 622 B30.2/SPRY. centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 TGGCAAGAATGCCTCCTCATG 0.463000 12 29 0 0 0.002450 0 0 NBEA 26960 broad.mit.edu 37 13 36141140 36141140 + Silent SNP A A C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr13:36141140A>C ENST00000540320.1 + 45 7555 c.7021A>C c.(7021-7023)Agg>Cgg p.R2341R NBEA_ENST00000379939.2_Silent_p.R2338R|NBEA_ENST00000310336.4_Silent_p.R2341R|NBEA_ENST00000537702.1_Silent_p.R134R|NBEA_ENST00000400445.3_Silent_p.R2341R Q8NFP9 NBEA_HUMAN neurobeachin 2341 BEACH. cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AGGAAACTTCAGGGATCTATC 0.363000 9 80 0 0 0.008291 0 0 SPAST 6683 broad.mit.edu 37 2 32289029 32289029 + Silent SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:32289029G>A ENST00000315285.3 + 1 254 c.129G>A c.(127-129)gaG>gaA p.E43E SPAST_ENST00000345662.1_Silent_p.E43E NM_014946.3 NP_055761.2 Q9UBP0 SPAST_HUMAN spastin 43 Required for interaction with ATL1.|Required for interaction with RTN1.|Required for midbody localization.|Required for nuclear localization. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) ctccgcccgAGTCGCCGCATA 0.701000 7 19 0 0 0.004482 0 0 KLK4 9622 broad.mit.edu 37 19 51410331 51410331 + Silent SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:51410331C>G ENST00000324041.1 - 5 623 c.624G>C c.(622-624)ggG>ggC p.G208G KLK4_ENST00000431178.2_3'UTR NM_004917.3 NP_004908.3 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 208 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) TCAGGGGCCCCCCAGAGTCAC 0.532000 4 47 0 0 0.000248 0 0 PXDNL 137902 broad.mit.edu 37 8 52325810 52325810 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:52325810C>G ENST00000356297.4 - 15 1904 c.1804G>C c.(1804-1806)Ggt>Cgt p.G602R PXDNL_ENST00000543296.1_Missense_Mutation_p.G602R NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 602 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) GCTTGTCTACCCTGTATAGCT 0.338000 12 71 0 0 0.002450 0 0 NRXN2 9379 broad.mit.edu 37 11 64397967 64397967 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:64397967C>T ENST00000265459.6 - 19 4125 c.3664G>A c.(3664-3666)Gac>Aac p.D1222N NRXN2_ENST00000301894.2_Missense_Mutation_p.D176N|NRXN2_ENST00000377559.3_Missense_Mutation_p.D1182N|NRXN2_ENST00000377551.1_Missense_Mutation_p.D1222N|NRXN2_ENST00000409571.1_Missense_Mutation_p.D1215N NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1222 Laminin G-like 6. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TATTTGCCGTCGCTTACTATG 0.637000 7 75 0 0 0.004482 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813565 106813565 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:106813565G>A ENST00000407775.2 + 8 1505 c.1255G>A c.(1255-1257)Gaa>Aaa p.E419K ZFPM2_ENST00000520492.1_Missense_Mutation_p.E287K|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E287K|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E150K|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 419 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GACCAGAAGCGAACTTCCCCA 0.498000 6 60 0 0 0.003080 0 0 ITGA5 3678 broad.mit.edu 37 12 54797565 54797565 + Splice_Site SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:54797565T>A ENST00000293379.4 - 17 1883 c.e17-2 RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 CTGTGAAACCTGAAGCCAGGG 0.557000 10 58 0 0 0.008291 0 0 ZNF778 197320 broad.mit.edu 37 16 89294603 89294603 + Missense_Mutation SNP T T G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr16:89294603T>G ENST00000433976.2 + 6 2155 c.1823T>G c.(1822-1824)aTa>aGa p.I608R RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.I566R NM_001201407.1|NM_182531.3 NP_001188336.1|NP_872337.2 Q96MU6 ZN778_HUMAN zinc finger protein 778 608 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) ATCGTGCACATAAGAACCCAC 0.478000 4 93 0 0 0.000602 0 0 IL13RA1 3597 broad.mit.edu 37 X 117907897 117907897 + Missense_Mutation SNP C C G rs12853794 byFrequency TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:117907897C>G ENST00000371666.3 + 9 1132 c.1065C>G c.(1063-1065)atC>atG p.I355M IL13RA1_ENST00000371637.3_Missense_Mutation_p.I154M NM_001560.2 NP_001551.1 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 355 interleukin-13 receptor complex cytokine receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 12 TTCCAGTCATCGTCGCAGGTG 0.423000 7 121 0 0 0.001984 0 0 KRIT1 889 broad.mit.edu 37 7 91870375 91870375 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:91870375G>C ENST00000394507.1 - 6 977 c.194C>G c.(193-195)aCa>aGa p.T65R KRIT1_ENST00000394505.2_Missense_Mutation_p.T65R|KRIT1_ENST00000412043.2_Missense_Mutation_p.T65R|KRIT1_ENST00000394503.2_Missense_Mutation_p.T65R|KRIT1_ENST00000340022.2_Missense_Mutation_p.T65R NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 65 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TATGCCTTGTGTTATTTCACT 0.348000 3 63 0 0 0.004672 0 0 SFXN5 94097 broad.mit.edu 37 2 73195591 73195591 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:73195591C>T ENST00000272433.2 - 12 943 c.813G>A c.(811-813)atG>atA p.M271I SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Intron NM_144579.2 NP_653180.1 Q8TD22 SFXN5_HUMAN sideroflexin 5 271 iron ion homeostasis integral to membrane cation transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 CCAGCATGGACATGACGATCG 0.662000 5 23 0 0 0.001984 0 0 ITGAX 3687 broad.mit.edu 37 16 31374564 31374564 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr16:31374564G>T ENST00000268296.4 + 14 1700 c.1579G>T c.(1579-1581)Gtg>Ttg p.V527L ITGAX_ENST00000562522.1_Missense_Mutation_p.V527L NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 527 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 GGCTCTGACAGTGCTGGGGGA 0.602000 24 120 8.24728e-16 1.93081e-15 0.004656 1 0 NDUFS6 4726 broad.mit.edu 37 5 1815993 1815993 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:1815993G>T ENST00000274137.5 + 4 356 c.338G>T c.(337-339)gGt>gTt p.G113V NM_004553.4 NP_004544.1 O75380 NDUS6_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) 113 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 7 NADH(DB00157) GGCACATGCGGTTACTGTGGG 0.473000 6 145 2.0095e-06 3.81126e-06 0.001984 1 0 PLA2G4C 8605 broad.mit.edu 37 19 48565366 48565366 + Silent SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:48565366G>A ENST00000354276.3 - 14 1473 c.1146C>T c.(1144-1146)caC>caT p.H382H PLA2G4C_ENST00000599921.1_Silent_p.H382H|PLA2G4C_ENST00000596510.1_5'UTR|CTD-2265M8.2_ENST00000601950.1_RNA|CTD-2265M8.2_ENST00000601548.1_RNA|PLA2G4C_ENST00000599111.1_Silent_p.H392H|PLA2G4C_ENST00000413144.2_Silent_p.H382H|CTD-2265M8.2_ENST00000596552.1_RNA NM_001159323.1 NP_001152795.1 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) 382 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) CATCCACCAGGTGGAGGTGCT 0.582000 11 23 0 0 0.008291 0 0 FAM208B 54906 broad.mit.edu 37 10 5799599 5799599 + Silent SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr10:5799599G>A ENST00000328090.5 + 17 7474 c.6849G>A c.(6847-6849)gtG>gtA p.V2283V NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 2283 GAGGCTTTGTGATATCAGATG 0.428000 7 178 0 0 0.003080 0 0 SLC39A14 23516 broad.mit.edu 37 8 22275274 22275274 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:22275274G>T ENST00000381237.1 + 8 1377 c.1258G>T c.(1258-1260)Ggc>Tgc p.G420C SLC39A14_ENST00000240095.6_Missense_Mutation_p.G420C|SLC39A14_ENST00000289952.5_Missense_Mutation_p.G420C|SLC39A14_ENST00000359741.5_Missense_Mutation_p.G420C NM_001128431.2 NP_001121903.1 Q15043 S39AE_HUMAN solute carrier family 39 (zinc transporter), member 14 420 endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane zinc ion transmembrane transporter activity NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1) 12 Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731) CATCCTGGCCGGCAGCCACTT 0.512000 9 57 7.48243e-07 1.44041e-06 0.006214 1 0 IGHV1-69 28461 broad.mit.edu 37 14 107170381 107170381 + RNA SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr14:107170381G>A ENST00000390633.2 - 0 47 GATGAGCTGTGCTCCCAGGGG 0.502000 6 38 0 0 0.001984 0 0 TLR10 81793 broad.mit.edu 37 4 38775676 38775676 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr4:38775676C>A ENST00000308973.4 - 4 2141 c.1536G>T c.(1534-1536)caG>caT p.Q512H TLR10_ENST00000508334.1_Missense_Mutation_p.Q512H|TLR10_ENST00000506111.1_Missense_Mutation_p.Q512H|TLR10_ENST00000361424.2_Missense_Mutation_p.Q512H NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 512 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 TTTTAACTTCCTGGCAGCTCT 0.398000 15 59 7.93312e-07 1.52391e-06 0.002450 1 0 C7orf34 135927 broad.mit.edu 37 7 142636718 142636718 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:142636718C>A ENST00000409607.3 + 1 116 c.75C>A c.(73-75)tcC>tcA p.S25S NM_178829.4 NP_849151.2 Q96L11 CG034_HUMAN chromosome 7 open reading frame 34 0 extracellular region large_intestine(1)|lung(4) 5 Melanoma(164;0.059) TGGGCAGGTCCATGCCTCCCC 0.657000 16 35 5.35267e-07 1.03485e-06 0.007413 1 0 RSPH6A 81492 broad.mit.edu 37 19 46307688 46307688 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:46307688G>T ENST00000221538.3 - 3 1617 c.1475C>A c.(1474-1476)aCg>aAg p.T492K RSPH6A_ENST00000597055.1_Missense_Mutation_p.T492K|RSPH6A_ENST00000600188.1_Missense_Mutation_p.T228K NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 492 intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GCTGACCTGCGTGGCGGCCGA 0.657000 17 40 1.02788e-11 2.27044e-11 0.004990 1 0 EXOC3L2 90332 broad.mit.edu 37 19 45721530 45721530 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:45721530C>T ENST00000413988.1 - 7 628 c.588G>A c.(586-588)gaG>gaA p.E196E EXOC3L2_ENST00000252482.3_Silent_p.E196E NM_138568.3 NP_612635.3 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 196 endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) CATCCAGGGCCTCCGGGCTGC 0.672000 8 16 0 0 0.003080 0 0 ITGA1 3672 broad.mit.edu 37 5 52240831 52240831 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:52240831C>G ENST00000282588.6 + 27 3802 c.3344C>G c.(3343-3345)tCt>tGt p.S1115C CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 1115 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) GAAAATGCATCTCTGGTTTTA 0.313000 10 180 0 0 0.000978 0 0 AZGP1 563 broad.mit.edu 37 7 99565997 99565997 + Nonsense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:99565997C>A ENST00000411734.1 - 3 390 c.385G>T c.(385-387)Gga>Tga p.G129* AZGP1_ENST00000292401.4_Nonsense_Mutation_p.G132* P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc-binding 132 antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation extracellular region|MHC class I protein complex fatty acid binding|protein transmembrane transporter activity|ribonuclease activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1) 16 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) CAGAATGCTCCGCTGCTTCTG 0.493000 107 297 2.55378e-55 6.28999e-55 0.003610 1 0 OR8B8 26493 broad.mit.edu 37 11 124310874 124310874 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:124310874C>T ENST00000328064.2 - 1 180 c.108G>A c.(106-108)gtG>gtA p.V36V NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CCACAGTGACCACGTAGAAGC 0.498000 8 58 0 0 0.006214 0 0 ZBTB2 57621 broad.mit.edu 37 6 151687288 151687288 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:151687288C>G ENST00000325144.4 - 3 1053 c.913G>C c.(913-915)Gat>Cat p.D305H NM_020861.1 NP_065912.1 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) TCCATGGCATCTTTCCCGAGG 0.547000 26 96 0 0 0.001786 0 0 PHF20L1 51105 broad.mit.edu 37 8 133790148 133790148 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:133790148T>C ENST00000395386.2 + 2 373 c.74T>C c.(73-75)tTa>tCa p.L25S PHF20L1_ENST00000395382.3_5'UTR|PHF20L1_ENST00000395379.1_Missense_Mutation_p.L25S|PHF20L1_ENST00000337920.4_Missense_Mutation_p.L25S|PHF20L1_ENST00000395376.1_Missense_Mutation_p.L25S|PHF20L1_ENST00000395383.1_Missense_Mutation_p.L25S|PHF20L1_ENST00000395390.2_Missense_Mutation_p.L25S|PHF20L1_ENST00000315808.10_Missense_Mutation_p.L25S|PHF20L1_ENST00000220847.7_5'UTR NM_016018.4 NP_057102.4 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 25 Tudor 1. nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) CTGGACTACTTACAAAAATGG 0.368000 3 128 0 0 0.004672 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130318936 130318936 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:130318936G>T ENST00000299164.2 + 1 68 c.68G>T c.(67-69)cGg>cTg p.R23L NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 23 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GAGCCAGAGCGGGAGGTAGTC 0.662000 6 34 0.00116845 0.00189609 0.001168 1 0 GABRB1 2560 broad.mit.edu 37 4 47408806 47408806 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr4:47408806G>A ENST00000295454.3 + 8 1235 c.943G>A c.(943-945)Gtg>Atg p.V315M GABRB1_ENST00000538619.1_Missense_Mutation_p.V245M NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 315 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GGGTTGCTTTGTGTTTGTGTT 0.463000 5 59 0 0 0.001168 0 0 LTBP1 4052 broad.mit.edu 37 2 33526644 33526644 + Silent SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:33526644T>A ENST00000404816.2 + 22 3767 c.3414T>A c.(3412-3414)acT>acA p.T1138T LTBP1_ENST00000354476.3_Silent_p.T1139T|LTBP1_ENST00000402934.1_Silent_p.T759T|LTBP1_ENST00000404525.1_Silent_p.T759T|LTBP1_ENST00000418533.2_Silent_p.T812T|LTBP1_ENST00000272273.5_Silent_p.T78T|LTBP1_ENST00000390003.4_Silent_p.T813T|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000407925.1_Silent_p.T812T Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1138 EGF-like 10; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GCAGGAACACTGAGGGCTCTT 0.458000 5 95 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179416915 179416915 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:179416915T>C ENST00000589042.1 - 335 90936 c.90712A>G c.(90712-90714)Aag>Gag p.K30238E TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K21298E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K21173E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K27670E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K21365E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K28597E|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28597 Fibronectin type-III 120. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTATCAGCCTTGATTTCATCA 0.433000 16 143 0 0 0.004007 0 0 LRFN2 57497 broad.mit.edu 37 6 40359793 40359793 + Silent SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:40359793C>G ENST00000338305.6 - 3 2801 c.2259G>C c.(2257-2259)acG>acC p.T753T NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 753 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GGCTGCGCTTCGTCCAGATGT 0.642000 3 46 0 0 0.004672 0 0 UBAC2 337867 broad.mit.edu 37 13 99992718 99992718 + Nonsense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr13:99992718G>T ENST00000376440.2 + 5 1104 c.601G>T c.(601-603)Gga>Tga p.G201* UBAC2_ENST00000403766.3_Nonsense_Mutation_p.G236*|UBAC2_ENST00000460562.1_3'UTR NM_177967.3 NP_808882.1 Q8NBM4 UBAC2_HUMAN UBA domain containing 2 236 integral to membrane breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2) 10 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AATTGGGATGGGAGCCACGCT 0.542000 15 91 3.27435e-08 6.51248e-08 0.002450 1 0 SAMSN1 64092 broad.mit.edu 37 21 15858241 15858241 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr21:15858241T>C ENST00000285670.2 - 9 1492 c.1318A>G c.(1318-1320)Agt>Ggt p.S440G SAMSN1_ENST00000400564.1_Missense_Mutation_p.S204G|SAMSN1_ENST00000400566.1_Missense_Mutation_p.S372G NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 372 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) GTTCAGTCACTTGGCTCTGTG 0.363000 14 87 0 0 0.004007 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52704587 52704587 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:52704587G>T ENST00000287727.3 + 4 1670 c.1498G>T c.(1498-1500)Gat>Tat p.D500Y ZFYVE9_ENST00000361625.1_Missense_Mutation_p.D500Y|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D500Y|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.D500Y NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 500 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 CTCCAAAGAAGATTCAGTAAC 0.393000 16 63 1.02788e-11 2.27044e-11 0.004990 1 0 OR4C13 283092 broad.mit.edu 37 11 49974488 49974488 + Missense_Mutation SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:49974488A>T ENST00000555099.1 + 1 546 c.514A>T c.(514-516)Ata>Tta p.I172L NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 TCCTAATGTCATAGATCACTT 0.438000 12 123 0 0 0.000978 0 0 YIPF5 81555 broad.mit.edu 37 5 143543795 143543795 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:143543795G>C ENST00000274496.5 - 4 443 c.309C>G c.(307-309)atC>atG p.I103M YIPF5_ENST00000448443.2_Missense_Mutation_p.I103M|YIPF5_ENST00000513112.1_Missense_Mutation_p.I49M NM_001271732.1|NM_030799.7 NP_001258661.1|NP_110426.4 Q969M3 YIPF5_HUMAN Yip1 domain family, member 5 103 Interaction with Sec23. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane large_intestine(2)|lung(5)|ovary(1)|skin(1) 9 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) TTTTTTGCCAGATGTGGTCAA 0.323000 6 23 0 0 0.001984 0 0 XIRP2 129446 broad.mit.edu 37 2 168100000 168100000 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:168100000C>A ENST00000409195.1 + 9 2187 c.2098C>A c.(2098-2100)Cat>Aat p.H700N XIRP2_ENST00000295237.9_Missense_Mutation_p.H700N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H478N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 525 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TGAAACTCAACATCTAGATCA 0.383000 8 38 0.000157383 0.000267462 0.003080 1 0 NAA60 79903 broad.mit.edu 37 16 3529593 3529593 + Missense_Mutation SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr16:3529593A>G ENST00000407558.4 + 4 536 c.233A>G c.(232-234)cAt>cGt p.H78R NAA60_ENST00000572584.1_Missense_Mutation_p.H78R|LA16c-306E5.2_ENST00000575785.1_RNA|NAA60_ENST00000577013.1_Missense_Mutation_p.H78R|NAA60_ENST00000575076.1_Missense_Mutation_p.H78R|NAA60_ENST00000570551.1_Intron|NAA60_ENST00000576916.1_Missense_Mutation_p.H78R|NAA60_ENST00000570819.1_Missense_Mutation_p.H78R|NAA60_ENST00000572942.1_Missense_Mutation_p.H78R|NAA60_ENST00000421765.3_Missense_Mutation_p.H78R|NAA60_ENST00000414063.2_Missense_Mutation_p.H78R|NAA60_ENST00000360862.5_Missense_Mutation_p.H13R|NAA60_ENST00000573580.1_Missense_Mutation_p.H13R|NAA60_ENST00000424546.2_Missense_Mutation_p.H85R|LA16c-306E5.3_ENST00000574423.2_RNA NM_001083601.1 NP_001077070.1 Q9H7X0 NAT15_HUMAN N(alpha)-acetyltransferase 60, NatF catalytic subunit 78 N-acetyltransferase. N-acetyltransferase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1) 7 ACCAAAATACATAAAGAGGTA 0.488000 4 31 0 0 0.000248 0 0 ANKLE1 126549 broad.mit.edu 37 19 17394727 17394727 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:17394727G>T ENST00000394458.3 + 5 1430 c.1154G>T c.(1153-1155)aGg>aTg p.R385M ANKLE1_ENST00000433424.2_Intron|ANKLE1_ENST00000594072.1_Intron|ANKLE1_ENST00000598347.1_Intron|ANKLE1_ENST00000404085.1_Intron NM_152363.4 NP_689576.4 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 385 LEM. nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 CCCTTCACCAGGCAGTTGTAC 0.582000 12 63 5.50884e-06 1.00659e-05 0.001368 1 0 ULK4 54986 broad.mit.edu 37 3 41996248 41996248 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:41996248C>G ENST00000301831.4 - 2 466 c.4G>C c.(4-6)Gaa>Caa p.E2Q ULK4_ENST00000414606.1_Missense_Mutation_p.E2Q|ULK4_ENST00000420927.1_Missense_Mutation_p.E2Q NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 2 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) ATAAAGTTTTCCATCTCTGGG 0.383000 4 60 0 0 0.000602 0 0 ZMAT4 79698 broad.mit.edu 37 8 40438748 40438748 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:40438748T>A ENST00000297737.6 - 6 756 c.610A>T c.(610-612)Agt>Tgt p.S204C ZMAT4_ENST00000315769.7_Missense_Mutation_p.S128C NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 204 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) AGGGAGACACTGCAGATGGTA 0.453000 52 101 0 0 0.003610 0 0 OLFML2B 25903 broad.mit.edu 37 1 161953628 161953628 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:161953628G>C ENST00000294794.3 - 8 2513 c.2090C>G c.(2089-2091)tCc>tGc p.S697C OLFML2B_ENST00000367940.2_Missense_Mutation_p.S698C|OLFML2B_ENST00000367938.1_Missense_Mutation_p.S180C NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 697 Olfactomedin-like. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GAAAGCGTAGGAGATGTTGGC 0.547000 48 204 0 0 0.003610 0 0 APCDD1 147495 broad.mit.edu 37 18 10468599 10468599 + Silent SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr18:10468599G>A ENST00000355285.4 + 2 546 c.192G>A c.(190-192)agG>agA p.R64R APCDD1_ENST00000578882.1_Silent_p.R64R NM_153000.4 NP_694545.1 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 64 hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 READ - Rectum adenocarcinoma(15;0.08) ATGGTGCAAGGATCACAGTGC 0.542000 7 71 0 0 0.001984 0 0 DDX4 54514 broad.mit.edu 37 5 55094310 55094310 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:55094310G>T ENST00000505374.1 + 18 1618 c.1526G>T c.(1525-1527)gGt>gTt p.G509V DDX4_ENST00000514278.2_Missense_Mutation_p.G489V|DDX4_ENST00000353507.5_Missense_Mutation_p.G475V|DDX4_ENST00000511853.1_Missense_Mutation_p.G360V|DDX4_ENST00000354991.5_Missense_Mutation_p.G475V NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 509 multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) GGACAAGTGGGTGGAGCATGT 0.393000 9 78 0.00621372 0.00980023 0.006214 1 0 WBSCR17 64409 broad.mit.edu 37 7 70880979 70880979 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:70880979G>C ENST00000333538.5 + 4 1328 c.694G>C c.(694-696)Gag>Cag p.E232Q WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 232 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CGCTCGCATTGAGGGCTGGAA 0.582000 9 61 0 0 0.006214 0 0 DOCK3 1795 broad.mit.edu 37 3 51395231 51395231 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:51395231G>A ENST00000266037.9 + 45 4749 c.4726G>A c.(4726-4728)Gct>Act p.A1576T NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1576 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CCCAGGAGATGCTGAGAAGAT 0.498000 7 75 0 0 0.003080 0 0 POP1 10940 broad.mit.edu 37 8 99140740 99140740 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:99140740G>T ENST00000401707.2 + 4 539 c.458G>T c.(457-459)aGa>aTa p.R153I POP1_ENST00000349693.3_Missense_Mutation_p.R153I NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 153 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) CGCCTTCCCAGACGGTTACAG 0.453000 29 46 1.99505e-19 4.82138e-19 0.002445 1 0 TIMD4 91937 broad.mit.edu 37 5 156381614 156381614 + Missense_Mutation SNP G G T rs75303251 TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:156381614G>T ENST00000274532.2 - 2 268 c.212C>A c.(211-213)aCt>aAt p.T71N TIMD4_ENST00000407087.3_Missense_Mutation_p.T71N NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 71 Ig-like V-type. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CATTCCATCAGTGCGGATGAG 0.522000 5 74 1.23904e-05 2.21451e-05 0.000602 1 0 EPHB1 2047 broad.mit.edu 37 3 134967256 134967256 + Silent SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:134967256G>T ENST00000398015.3 + 14 2965 c.2595G>T c.(2593-2595)cgG>cgT p.R865R EPHB1_ENST00000493838.1_Silent_p.R426R NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 865 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 AGAAGGACCGGAACAGCCGGC 0.587000 13 52 7.03913e-09 1.43171e-08 0.001368 1 0 RYR2 6262 broad.mit.edu 37 1 237865352 237865352 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:237865352G>C ENST00000366574.2 + 66 9759 c.9442G>C c.(9442-9444)Gtg>Ctg p.V3148L RYR2_ENST00000542537.1_Missense_Mutation_p.V3132L|RYR2_ENST00000360064.6_Missense_Mutation_p.V3146L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3148 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAGTATTTACGTGGAGAGGTA 0.328000 5 25 0 0 0.001168 0 0 RYR2 6262 broad.mit.edu 37 1 237819179 237819179 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:237819179C>A ENST00000366574.2 + 53 8341 c.8024C>A c.(8023-8025)gCt>gAt p.A2675D RYR2_ENST00000542537.1_Missense_Mutation_p.A2659D|RYR2_ENST00000360064.6_Missense_Mutation_p.A2673D NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2675 4 X approximate repeats.|Modulator (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTTGCGGGAGCTTTGCCTCCA 0.408000 4 17 1.23904e-05 2.21451e-05 0.000602 1 0 C2orf71 388939 broad.mit.edu 37 2 29295786 29295786 + Silent SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:29295786A>G ENST00000331664.5 - 1 1341 c.1342T>C c.(1342-1344)Ttg>Ctg p.L448L NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 448 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CCCAGCTTCAAAGGTGGGGAG 0.552000 5 69 0 0 0.001168 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117432096 117432096 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:117432096C>G ENST00000160373.3 - 4 1245 c.1154G>C c.(1153-1155)gGa>gCa p.G385A NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 385 Pro-rich. p.G385L(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) AGTGCTTGGTCCATTTTCCTC 0.547000 31 92 0 0 0.002445 0 0 TBCA 6902 broad.mit.edu 37 5 77072075 77072075 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:77072075C>A ENST00000306388.6 - 1 36 c.7G>T c.(7-9)Gat>Tat p.D3Y TBCA_ENST00000518338.2_Missense_Mutation_p.D3Y|TBCA_ENST00000520361.1_Missense_Mutation_p.D3Y|TBCA_ENST00000380377.4_Missense_Mutation_p.D3Y|TBCA_ENST00000520039.1_Missense_Mutation_p.D3Y|TBCA_ENST00000522370.1_Intron O75347 TBCA_HUMAN tubulin folding cofactor A 3 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly cytoplasm|microtubule chaperone binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1)|ovary(1) 5 all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40) ACGCGAGGATCGGCCATGGTC 0.682000 3 4 0.004672 0.00742072 0.004672 1 0 OR10Z1 128368 broad.mit.edu 37 1 158576479 158576479 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:158576479G>T ENST00000361284.1 + 1 251 c.251G>T c.(250-252)gGc>gTc p.G84V NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) ATGCTCTCTGGCCTGGCTGGG 0.552000 10 279 0.000978159 0.00160176 0.000978 1 0 CDH6 1004 broad.mit.edu 37 5 31318111 31318111 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:31318111C>A ENST00000514738.1 + 11 2227 c.1797C>A c.(1795-1797)gcC>gcA p.A599A CDH6_ENST00000265071.2_Intron P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 0 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ATTTATCTGCCTCCCCCATTA 0.473000 5 50 0.000602214 0.000993378 0.000602 1 0 HRNR 388697 broad.mit.edu 37 1 152187614 152187614 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:152187614G>C ENST00000368801.2 - 3 6566 c.6491C>G c.(6490-6492)tCt>tGt p.S2164C FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2164 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACGGGAGCCAGACCCATGCTG 0.622000 40 1251 0 0 0.007291 0 0 RYR3 6263 broad.mit.edu 37 15 33765620 33765620 + Splice_Site SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr15:33765620G>T ENST00000389232.4 + 2 122 c.51_splice c.e2-1 p.E18_splice RYR3_ENST00000415757.3_Splice_Site_p.E18_splice NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 18 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTCCTGGCAGGAGGATGAAGT 0.562000 18 101 1.67942e-08 3.37762e-08 0.006122 1 0 TSKS 60385 broad.mit.edu 37 19 50266472 50266472 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:50266472C>T ENST00000246801.3 - 1 115 c.33G>A c.(31-33)caG>caA p.Q11Q NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 11 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) TCTCTTTGGACTGCCAGATCG 0.652000 20 79 0 0 0.002780 0 0 SLC22A25 387601 broad.mit.edu 37 11 62931451 62931451 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:62931451G>T ENST00000306494.6 - 9 1488 c.1489C>A c.(1489-1491)Ccc>Acc p.P497T SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 497 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 ATGATCCAGGGCAGGGGTCGA 0.507000 12 161 5.50884e-06 1.00659e-05 0.001368 1 0 CLEC4F 165530 broad.mit.edu 37 2 71046928 71046928 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:71046928G>T ENST00000272367.2 - 2 233 c.157C>A c.(157-159)Ctt>Att p.L53I CLEC4F_ENST00000426626.1_Missense_Mutation_p.L53I NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 53 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 AGAGTCACAAGAGAGAAGACC 0.552000 6 48 0.00198382 0.00319043 0.001984 1 0 NCAN 1463 broad.mit.edu 37 19 19327781 19327781 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:19327781T>A ENST00000252575.5 + 2 62 c.19T>A c.(19-21)Tgg>Agg p.W7R NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 7 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CCCGTTTGTCTGGGCCTTGGG 0.577000 33 128 0 0 0.004289 0 0 POLD1 5424 broad.mit.edu 37 19 50902661 50902661 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:50902661G>T ENST00000440232.2 + 3 289 c.236G>T c.(235-237)tGg>tTg p.W79L POLD1_ENST00000599857.1_Missense_Mutation_p.W79L|POLD1_ENST00000595904.1_Missense_Mutation_p.W79L NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 79 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GATCCTCGCTGGCTTCGGCCC 0.587000 DNA polymerases (catalytic subunits) 6 40 8.12818e-05 0.000140254 0.001984 1 0 CCDC108 255101 broad.mit.edu 37 2 219903121 219903121 + Silent SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:219903121A>G ENST00000341552.5 - 4 416 c.333T>C c.(331-333)agT>agC p.S111S CCDC108_ENST00000409865.3_Silent_p.S100S|CCDC108_ENST00000324264.6_Silent_p.S46S|CCDC108_ENST00000295729.2_Silent_p.S46S|CCDC108_ENST00000410037.1_Silent_p.S46S|CCDC108_ENST00000453220.1_Silent_p.S111S|CCDC108_ENST00000441968.1_Silent_p.S111S NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 111 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGCTGCAGGCACTCATGGCTG 0.647000 3 40 0 0 0.000248 0 0 OR52A5 390054 broad.mit.edu 37 11 5153145 5153145 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:5153145G>T ENST00000307388.1 - 1 727 c.728C>A c.(727-729)aCa>aAa p.T243K NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) GGCAATGCATGTATTAAAGGC 0.403000 6 47 0.00116845 0.00189609 0.001168 1 0 MEP1A 4224 broad.mit.edu 37 6 46801135 46801135 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:46801135G>T ENST00000230588.4 + 11 1478 c.1469G>T c.(1468-1470)aGt>aTt p.S490I NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 490 MATH. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) CATGTGTGCAGTGGGGAGAAC 0.473000 31 139 9.65021e-13 2.16348e-12 0.002096 1 0 STIP1 10963 broad.mit.edu 37 11 63961668 63961668 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:63961668C>T ENST00000358794.5 + 3 921 c.368C>T c.(367-369)tCa>tTa p.S123L STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000543847.1_Missense_Mutation_p.S76L|STIP1_ENST00000305218.4_Missense_Mutation_p.S76L|STIP1_ENST00000538945.1_Intron P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 76 axon guidance|response to stress Golgi apparatus|nucleus endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1) 27 AAGGGCTATTCACGAAAAGCA 0.418000 38 130 0 0 0.008740 0 0 C10orf11 83938 broad.mit.edu 37 10 78316985 78316985 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr10:78316985G>A ENST00000496424.2 + 3 983 c.107G>A c.(106-108)cGc>cAc p.R36H C10orf11_ENST00000593699.1_3'UTR|C10orf11_ENST00000372499.1_Missense_Mutation_p.R179H Q9H2I8 CJ011_HUMAN chromosome 10 open reading frame 11 179 endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 10 Prostate(51;0.0095)|all_epithelial(25;0.0221) GGGAAGTGTCGCTACGTTTAC 0.448000 5 83 0 0 0.001984 0 0 ZNF831 128611 broad.mit.edu 37 20 57829560 57829560 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:57829560G>C ENST00000371030.2 + 5 4796 c.4796G>C c.(4795-4797)gGg>gCg p.G1599A NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1599 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TATGGGTGTGGGGAAATGACT 0.483000 12 93 0 0 0.001368 0 0 ZIC4 84107 broad.mit.edu 37 3 147114060 147114060 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:147114060C>A ENST00000383075.3 - 3 779 c.267G>T c.(265-267)ctG>ctT p.L89L ZIC4_ENST00000484399.1_Silent_p.L89L|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Silent_p.L139L|ZIC4_ENST00000425731.3_Silent_p.L127L|ZIC4_ENST00000473123.1_Silent_p.L89L NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 89 Poly-Ala. nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 CGGCAGCTGCCAGGGCGTCGC 0.701000 4 21 0.00024832 0.000418052 0.000248 1 0 THAP1 55145 broad.mit.edu 37 8 42694370 42694370 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:42694370C>T ENST00000254250.3 - 2 456 c.226G>A c.(226-228)Gct>Act p.A76T THAP1_ENST00000345117.2_Intron|THAP1_ENST00000532093.1_5'UTR NM_018105.2 NP_060575.1 Q9NVV9 THAP1_HUMAN THAP domain containing, apoptosis associated protein 1 76 cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body sequence-specific DNA binding|zinc ion binding NS(1)|lung(4)|prostate(1)|skin(1) 7 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869) GTGGGCACAGCATTCTCTTTC 0.353000 15 165 0 0 0.004990 0 0 PCDH15 65217 broad.mit.edu 37 10 55913019 55913019 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr10:55913019C>A ENST00000373965.2 - 15 2040 c.1646G>T c.(1645-1647)gGg>gTg p.G549V PCDH15_ENST00000373955.1_Missense_Mutation_p.G542V|PCDH15_ENST00000395430.1_Missense_Mutation_p.G542V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.G542V|PCDH15_ENST00000414778.1_Missense_Mutation_p.G547V|PCDH15_ENST00000437009.1_Missense_Mutation_p.G542V|PCDH15_ENST00000395445.1_Missense_Mutation_p.G549V|PCDH15_ENST00000395438.1_Missense_Mutation_p.G542V|PCDH15_ENST00000373957.3_Missense_Mutation_p.G520V|PCDH15_ENST00000320301.6_Missense_Mutation_p.G542V|PCDH15_ENST00000409834.1_Missense_Mutation_p.G153V|PCDH15_ENST00000395433.1_Missense_Mutation_p.G520V|PCDH15_ENST00000361849.3_Missense_Mutation_p.G542V|PCDH15_ENST00000395432.2_Missense_Mutation_p.G505V|PCDH15_ENST00000395442.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 542 Cadherin 5. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TGTGATCTCCCCATTTGACCC 0.453000 HNSCC(58;0.16) 9 64 2.17888e-05 3.86353e-05 0.006214 1 0 NELL2 4753 broad.mit.edu 37 12 45171025 45171025 + Splice_Site SNP T T G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:45171025T>G ENST00000429094.2 - 6 1183 c.679_splice c.e6+1 p.T227_splice NELL2_ENST00000395487.2_Splice_Site_p.T226_splice|NELL2_ENST00000549027.1_Splice_Site_p.T226_splice|NELL2_ENST00000437801.2_Splice_Site_p.T277_splice|NELL2_ENST00000551601.1_Splice_Site_p.T226_splice|NELL2_ENST00000452445.2_Splice_Site_p.T227_splice|NELL2_ENST00000333837.4_Splice_Site_p.T250_splice NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 227 TSP N-terminal. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) ATAGACTTACTGCGATTAAGA 0.388000 16 52 0 0 0.007413 0 0 RYR1 6261 broad.mit.edu 37 19 38934885 38934885 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:38934885C>A ENST00000355481.4 + 6 652 c.521C>A c.(520-522)tCc>tAc p.S174Y RYR1_ENST00000359596.3_Missense_Mutation_p.S174Y|RYR1_ENST00000360985.3_Missense_Mutation_p.S174Y NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 174 MIR 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GTCAGTGTCTCCTCCGAGCGC 0.597000 4 20 0.00024832 0.000418052 0.000248 1 0 KCNH4 23415 broad.mit.edu 37 17 40322232 40322232 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:40322232G>A ENST00000264661.3 - 8 1615 c.1283C>T c.(1282-1284)gCg>gTg p.A428V KCNH4_ENST00000607371.1_Missense_Mutation_p.A428V NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 428 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GTACAGTGCCGCGATGTAGGC 0.607000 7 30 0 0 0.003080 0 0 GPR107 57720 broad.mit.edu 37 9 132837961 132837961 + Missense_Mutation SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr9:132837961A>T ENST00000372406.1 + 2 695 c.188A>T c.(187-189)aAg>aTg p.K63M GPR107_ENST00000347136.6_Missense_Mutation_p.K63M|GPR107_ENST00000372410.3_Missense_Mutation_p.K63M NM_001136557.1 NP_001130029.1 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 63 integral to membrane endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) GGCTTCTTCAAGGATGGGTAC 0.408000 12 42 0 0 0.001855 0 0 MALT1 10892 broad.mit.edu 37 18 56414822 56414822 + Silent SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr18:56414822A>T ENST00000348428.3 + 17 2481 c.2223A>T c.(2221-2223)gcA>gcT p.A741A RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Silent_p.A730A NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 741 activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 AGAGTTCTGCAGCCACCTCAG 0.448000 T BIRC3 MALT 15 145 0 0 0.002450 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14808564 14808564 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr18:14808564G>C ENST00000358984.4 + 25 2479 c.2299G>C c.(2299-2301)Gat>Cat p.D767H ANKRD30B_ENST00000579292.1_3'UTR NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 852 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TCCTGATAAAGATGGTCTTCT 0.289000 5 31 0 0 0.001168 0 0 PLCXD2 257068 broad.mit.edu 37 3 111432789 111432789 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:111432789G>A ENST00000393934.3 + 3 1250 c.680G>A c.(679-681)gGa>gAa p.G227E PLCXD2_ENST00000477665.1_Missense_Mutation_p.G227E|PLCXD2_ENST00000472215.1_3'UTR NM_153268.3 NP_695000.1 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 2 227 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 CTGTGGCCAGGAAAGAAGATT 0.488000 7 54 0 0 0.003080 0 0 AHNAK2 113146 broad.mit.edu 37 14 105415801 105415801 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr14:105415801G>A ENST00000333244.5 - 7 6106 c.5987C>T c.(5986-5988)cCg>cTg p.P1996L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1996 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCGAACGACGGCATCTTGAA 0.617000 59 262 0 0 0.003610 0 0 LAMB1 3912 broad.mit.edu 37 7 107616205 107616205 + Missense_Mutation SNP T T G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:107616205T>G ENST00000393561.1 - 8 1374 c.1190A>C c.(1189-1191)aAc>aCc p.N397T LAMB1_ENST00000393560.1_Missense_Mutation_p.N373T|LAMB1_ENST00000222399.6_Missense_Mutation_p.N373T P07942 LAMB1_HUMAN laminin, beta 1 373 Laminin EGF-like 2. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGCTCACAGTTGCGCCCCAT 0.517000 7 88 0 0 0.003080 0 0 AOC4P 90586 broad.mit.edu 37 17 41020640 41020640 + RNA SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:41020640C>T ENST00000585538.1 + 0 1479 NR_002773.1 TCTCTACTCCCACTACTTTGG 0.517000 4 30 0 0 0.000248 0 0 NLRP13 126204 broad.mit.edu 37 19 56424590 56424590 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:56424590G>T ENST00000588751.1 - 5 617 c.593C>A c.(592-594)cCt>cAt p.P198H NLRP13_ENST00000342929.3_Missense_Mutation_p.P198H Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 198 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GTGGTCTTTAGGCCAACTGAT 0.483000 15 198 6.31663e-08 1.25356e-07 0.003163 1 0 MS4A7 58475 broad.mit.edu 37 11 60161321 60161321 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:60161321G>C ENST00000358246.1 + 6 768 c.575G>C c.(574-576)cGg>cCg p.R192P MS4A7_ENST00000300184.3_Missense_Mutation_p.R237P|MS4A7_ENST00000534016.1_Missense_Mutation_p.R192P|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Intron NM_206938.1|NM_206940.1 NP_996821.1|NP_996823.1 Q9GZW8 MS4A7_HUMAN membrane-spanning 4-domains, subfamily A, member 7 237 integral to membrane receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1) 20 AGTTCTTCACGGTCTTGGATA 0.373000 17 110 0 0 0.006122 0 0 CNGB3 54714 broad.mit.edu 37 8 87660047 87660047 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:87660047T>A ENST00000320005.5 - 8 1019 c.972A>T c.(970-972)agA>agT p.R324S NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 324 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 TCCTATTTGCTCTAAACATTG 0.289000 8 114 0 0 0.004482 0 0 RASIP1 54922 broad.mit.edu 37 19 49225109 49225109 + Splice_Site SNP A A C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:49225109A>C ENST00000222145.4 - 11 2897 c.e11+1 NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) ATTGCTCCTCACCTGTGTCCA 0.627000 10 78 0 0 0.008291 0 0 TNNT1 7138 broad.mit.edu 37 19 55649411 55649411 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:55649411G>C ENST00000588981.1 - 10 623 c.419C>G c.(418-420)gCc>gGc p.A140G TNNT1_ENST00000587758.1_Missense_Mutation_p.A129G|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000588426.1_Missense_Mutation_p.A37G|TNNT1_ENST00000356783.5_Missense_Mutation_p.A129G|TNNT1_ENST00000585321.2_Missense_Mutation_p.A70G|TNNT1_ENST00000587465.2_Missense_Mutation_p.A70G|TNNT1_ENST00000536926.1_Missense_Mutation_p.A129G|TNNT1_ENST00000291901.8_Missense_Mutation_p.A140G NM_003283.4 NP_003274.3 P13805 TNNT1_HUMAN troponin T type 1 (skeletal, slow) 140 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding endometrium(2)|kidney(3)|lung(4)|ovary(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) CCGCTTCTTGGCCTCTTCCTC 0.567000 19 77 0 0 0.002299 0 0 SPATA16 83893 broad.mit.edu 37 3 172634254 172634254 + Silent SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:172634254G>T ENST00000351008.3 - 9 1539 c.1356C>A c.(1354-1356)tcC>tcA p.S452S NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 452 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TCACACCTGAGGATGCAGGAA 0.483000 39 141 2.26627e-22 5.53636e-22 0.007835 1 0 CADM1 23705 broad.mit.edu 37 11 115099869 115099869 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:115099869C>T ENST00000542447.2 - 5 813 c.685G>A c.(685-687)Gga>Aga p.G229R CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_Missense_Mutation_p.G229R|CADM1_ENST00000537058.1_Missense_Mutation_p.G229R|CADM1_ENST00000536727.1_Missense_Mutation_p.G229R|CADM1_ENST00000331581.6_Missense_Mutation_p.G229R NM_001098517.1 NP_001091987.1 Q9BY67 CADM1_HUMAN cell adhesion molecule 1 229 Ig-like C2-type 1. adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) TGCAGGTTTCCAGTGACCGCA 0.522000 6 32 0 0 0.003080 0 0 ABCB1 5243 broad.mit.edu 37 7 87145854 87145854 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:87145854C>A ENST00000265724.3 - 25 3472 c.3055G>T c.(3055-3057)Gac>Tac p.D1019Y ABCB1_ENST00000543898.1_Missense_Mutation_p.D955Y|ABCB1_ENST00000488737.2_5'UTR NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 1019 G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CTGTAGCTGTCAATCAAAGGG 0.433000 35 105 3.76114e-14 8.69219e-14 0.004289 1 0 DZIP1L 199221 broad.mit.edu 37 3 137807303 137807303 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:137807303C>A ENST00000327532.2 - 6 1279 c.917G>T c.(916-918)gGa>gTa p.G306V DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Missense_Mutation_p.G306V NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 306 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 TCGCAGTGATCCCAGCTTGGA 0.522000 19 80 2.32416e-17 5.49847e-17 0.002299 1 0 C1QA 712 broad.mit.edu 37 1 22965758 22965758 + Missense_Mutation SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:22965758A>T ENST00000374642.3 + 3 800 c.596A>T c.(595-597)cAg>cTg p.Q199L C1QA_ENST00000402322.1_Missense_Mutation_p.Q199L NM_015991.2 NP_057075.1 P02745 C1QA_HUMAN complement component 1, q subcomponent, A chain 199 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex autonomic_ganglia(1)|liver(1)|lung(3)|skin(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GGGCTCTTCCAGGTGGTGTCA 0.597000 9 71 0 0 0.000978 0 0 PPM1A 5494 broad.mit.edu 37 14 60758173 60758173 + Splice_Site SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr14:60758173G>C ENST00000395076.4 + 5 1549 c.e5+1 PPM1A_ENST00000325642.3_Splice_Site|PPM1A_ENST00000529574.1_Splice_Site NM_021003.4 NP_066283.1 P35813 PPM1A_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1A cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) TGACGACACTGTAAGTAGCAT 0.388000 4 55 0 0 0.000248 0 0 IFNA6 3443 broad.mit.edu 37 9 21350513 21350513 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr9:21350513T>A ENST00000380210.1 - 1 864 c.374A>T c.(373-375)cAg>cTg p.Q125L NM_021002.2 NP_066282.1 P05013 IFNA6_HUMAN interferon, alpha 6 125 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding large_intestine(3)|lung(7)|skin(1) 11 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) CCACACCTCCTGCATCACACA 0.483000 26 209 0 0 0.005443 0 0 ITIH6 347365 broad.mit.edu 37 X 54783877 54783877 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:54783877G>C ENST00000218436.6 - 8 2659 c.2630C>G c.(2629-2631)cCa>cGa p.P877R NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 877 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ATGGGGGTTTGGGGTCTCAGG 0.483000 16 33 0 0 0.003163 0 0 PTPRT 11122 broad.mit.edu 37 20 40733255 40733255 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:40733255C>A ENST00000373198.3 - 26 3795 c.3560G>T c.(3559-3561)aGg>aTg p.R1187M PTPRT_ENST00000373190.1_Missense_Mutation_p.R1164M|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1174M|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1165M|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1175M|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1155M|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1168M NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1165 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGGGTCCAGCCTGCTGATATT 0.483000 30 90 2.81731e-10 6.03039e-10 0.002096 1 0 CHD7 55636 broad.mit.edu 37 8 61734669 61734669 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:61734669G>T ENST00000423902.2 + 11 3401 c.2922G>T c.(2920-2922)gaG>gaT p.E974D CHD7_ENST00000525508.1_Missense_Mutation_p.E974D|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 974 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.R969fs*16(2) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) ACCAGTTGGAGGGAGTAAACT 0.353000 18 47 3.51602e-12 7.82401e-12 0.008871 1 0 DCT 1638 broad.mit.edu 37 13 95121091 95121091 + Silent SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr13:95121091C>G ENST00000377028.5 - 2 917 c.504G>C c.(502-504)ggG>ggC p.G168G DCT_ENST00000446125.1_Silent_p.G168G NM_001922.3 NP_001913.2 P40126 TYRP2_HUMAN dopachrome tautomerase 168 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 50 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) TTCCATTGGGCCCAAGCAGGC 0.483000 27 178 0 0 0.006320 0 0 DROSHA 29102 broad.mit.edu 37 5 31511174 31511174 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:31511174T>A ENST00000511367.2 - 8 1644 c.1400A>T c.(1399-1401)gAa>gTa p.E467V DROSHA_ENST00000344624.3_Missense_Mutation_p.E467V|DROSHA_ENST00000442743.1_Missense_Mutation_p.E430V|DROSHA_ENST00000513349.1_Missense_Mutation_p.E430V NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 467 gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 CTTTGGAGGTTCCCACGGAGG 0.478000 9 101 0 0 0.006214 0 0 DENND2A 27147 broad.mit.edu 37 7 140302057 140302057 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:140302057C>T ENST00000275884.6 - 2 558 c.141G>A c.(139-141)aaG>aaA p.K47K DENND2A_ENST00000537639.1_Silent_p.K47K|DENND2A_ENST00000496613.1_Silent_p.K47K|DENND2A_ENST00000492720.1_Silent_p.K47K Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 47 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) ATATCTTGTCCTTTATGTTGA 0.572000 11 119 0 0 0.000978 0 0 USH2A 7399 broad.mit.edu 37 1 215963417 215963417 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:215963417G>T ENST00000366943.2 - 51 10552 c.10166C>A c.(10165-10167)aCt>aAt p.T3389N USH2A_ENST00000307340.3_Missense_Mutation_p.T3389N O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3389 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CATCATTCCAGTTGAAATCTT 0.348000 HNSCC(13;0.011) 10 49 9.70103e-10 2.04724e-09 0.008291 1 0 HBD 3045 broad.mit.edu 37 11 5255305 5255305 + Silent SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:5255305A>G ENST00000380299.3 - 2 445 c.231T>C c.(229-231)gcT>gcC p.A77A HBD_ENST00000292901.3_Silent_p.A77A NM_000519.3 NP_000510.1 P02042 HBD_HUMAN hemoglobin, delta 77 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 16 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTCCAGGTGAGCCAGGCCAT 0.537000 16 82 0 0 0.004990 0 0 OR4K5 79317 broad.mit.edu 37 14 20389159 20389159 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr14:20389159T>A ENST00000315915.4 + 1 419 c.394T>A c.(394-396)Tat>Aat p.Y132N NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 132 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ACCCTTATACTATGTGGTCAT 0.438000 7 194 0 0 0.001984 0 0 SYNGR4 23546 broad.mit.edu 37 19 48876967 48876967 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:48876967C>T ENST00000344846.2 + 3 537 c.287C>T c.(286-288)aCc>aTc p.T96I SYNGR4_ENST00000595322.1_Missense_Mutation_p.T47I|SYNGR4_ENST00000601610.1_Missense_Mutation_p.T47I NM_012451.3 NP_036583.2 O95473 SNG4_HUMAN synaptogyrin 4 96 MARVEL. integral to membrane breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) ATTGCCGGCACCCGCTTCAAG 0.672000 20 73 0 0 0.001882 0 0 MUC17 140453 broad.mit.edu 37 7 100679896 100679896 + Silent SNP T T G rs71286280 TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:100679896T>G ENST00000306151.4 + 3 5263 c.5199T>G c.(5197-5199)acT>acG p.T1733T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1733 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTCCTACAACTTCTGAAGGTA 0.512000 34 443 0 0 0.003271 0 0 LPAL2 80350 broad.mit.edu 37 6 160913946 160913946 + RNA SNP A A C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:160913946A>C ENST00000335388.5 - 0 374 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) TATAACACCAAGGGCCTGCCG 0.498000 4 111 0 0 0.000248 0 0 STK31 56164 broad.mit.edu 37 7 23793982 23793982 + Silent SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:23793982A>T ENST00000354639.3 + 10 1577 c.1113A>T c.(1111-1113)atA>atT p.I371I STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.I371I|STK31_ENST00000355870.3_Silent_p.I394I|STK31_ENST00000433467.2_Silent_p.I394I NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 394 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CAGATGCTATACAAGTGTTGG 0.368000 23 80 0 0 0.003954 0 0 TMEM52B 120939 broad.mit.edu 37 12 10337952 10337952 + Missense_Mutation SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:10337952A>G ENST00000298530.3 + 2 640 c.62A>G c.(61-63)cAt>cGt p.H21R TMEM52B_ENST00000381923.2_Missense_Mutation_p.H41R|TMEM52B_ENST00000536952.1_Missense_Mutation_p.H41R NM_153022.2 NP_694567.1 transmembrane protein 52B GACTGGGTACATCTCTGGTAT 0.353000 12 72 0 0 0.001855 0 0 ROCK1 6093 broad.mit.edu 37 18 18622600 18622600 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr18:18622600T>C ENST00000399799.1 - 7 1686 c.746A>G c.(745-747)cAa>cGa p.Q249R NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 249 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) ATCACCACCTTGGGATTTTAA 0.408000 3 44 0 0 0.000248 0 0 VCAN 1462 broad.mit.edu 37 5 82817085 82817085 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:82817085T>C ENST00000265077.3 + 7 3525 c.2960T>C c.(2959-2961)gTa>gCa p.V987A VCAN_ENST00000512590.2_Missense_Mutation_p.V939A|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.V987A NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 987 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GGAGTGTTAGTACCTTCTGTT 0.423000 11 38 0 0 0.000978 0 0 CNTN4 152330 broad.mit.edu 37 3 3084014 3084014 + Missense_Mutation SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:3084014A>G ENST00000397461.1 + 20 2803 c.2419A>G c.(2419-2421)Agt>Ggt p.S807G CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.S807G|CNTN4_ENST00000358480.3_Missense_Mutation_p.S588G|CNTN4_ENST00000397459.2_Missense_Mutation_p.S479G|CNTN4_ENST00000418658.1_Missense_Mutation_p.S807G|CNTN4_ENST00000448906.2_Missense_Mutation_p.S479G NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 807 Fibronectin type-III 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) ACCACCAGCCAGTATCTTTGC 0.408000 6 35 0 0 0.006214 0 0 CYP3A5 1577 broad.mit.edu 37 7 99274120 99274120 + Translation_Start_Site SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:99274120G>T ENST00000343703.5 - 0 247 CYP3A5_ENST00000480723.1_Intron|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000439761.1_Intron|CYP3A5_ENST00000222982.4_Intron cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) GAGAGGTTCAGGCAGGAATTC 0.418000 31 68 5.60225e-13 1.26862e-12 0.001786 1 0 CSMD3 114788 broad.mit.edu 37 8 113249558 113249558 + Silent SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:113249558G>T ENST00000297405.5 - 67 10732 c.10488C>A c.(10486-10488)gcC>gcA p.A3496A CSMD3_ENST00000352409.3_Silent_p.A3426A|CSMD3_ENST00000343508.3_Silent_p.A3456A|CSMD3_ENST00000455883.2_Silent_p.A3327A NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3496 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TATAATTTTGGGCAAATACAT 0.313000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 34 34 4.11147e-13 9.38126e-13 0.003755 1 0 AGMO 392636 broad.mit.edu 37 7 15458203 15458203 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:15458203G>C ENST00000342526.3 - 5 758 c.589C>G c.(589-591)Caa>Gaa p.Q197E NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 197 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 ATCCAAAATTGGTAAAGAAGA 0.338000 7 44 0 0 0.001984 0 0 COL22A1 169044 broad.mit.edu 37 8 139815175 139815175 + Silent SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:139815175T>C ENST00000303045.6 - 11 1943 c.1497A>G c.(1495-1497)ggA>ggG p.G499G COL22A1_ENST00000435777.1_Silent_p.G499G NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 499 Collagen-like 1.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTCCTATGTCTCCCTGAGGGG 0.562000 HNSCC(7;0.00092) 3 111 0 0 0.000248 0 0 POMK 84197 broad.mit.edu 37 8 42977597 42977597 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:42977597G>T ENST00000331373.5 + 5 885 c.630G>T c.(628-630)aaG>aaT p.K210N NM_001277971.1|NM_032237.3 NP_001264900.1|NP_115613.1 Q9H5K3 SG196_HUMAN 210 Protein kinase. integral to membrane ATP binding|protein kinase activity ACCTGCCGAAGACACTGTCCC 0.542000 10 47 1.76689e-08 3.53772e-08 0.006214 1 0 DDX54 79039 broad.mit.edu 37 12 113614678 113614678 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:113614678C>A ENST00000314045.7 - 7 746 c.719G>T c.(718-720)aGt>aTt p.S240I DDX54_ENST00000306014.5_Missense_Mutation_p.S240I NM_001111322.1 NP_001104792.1 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 240 Helicase ATP-binding. estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GTATTCCACACTCTGCAGCTT 0.577000 16 94 9.7654e-05 0.000168182 0.007413 1 0 DDX54 79039 broad.mit.edu 37 12 113614682 113614682 + Nonsense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:113614682G>A ENST00000314045.7 - 7 742 c.715C>T c.(715-717)Cag>Tag p.Q239* DDX54_ENST00000306014.5_Nonsense_Mutation_p.Q239* NM_001111322.1 NP_001104792.1 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 239 Helicase ATP-binding. estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TCCACACTCTGCAGCTTCAGG 0.587000 17 94 0 0 0.006122 0 0 COL13A1 1305 broad.mit.edu 37 10 71686841 71686841 + Splice_Site SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr10:71686841A>T ENST00000356340.3 + 25 1901 c.e25-1 COL13A1_ENST00000398972.3_Intron|COL13A1_ENST00000398974.3_Splice_Site|COL13A1_ENST00000398964.3_Splice_Site|COL13A1_ENST00000398966.3_Splice_Site|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000517713.1_Splice_Site|COL13A1_ENST00000398973.3_Intron|COL13A1_ENST00000354547.3_Splice_Site|COL13A1_ENST00000357811.3_Splice_Site|COL13A1_ENST00000398978.3_Splice_Site|COL13A1_ENST00000520267.1_Splice_Site|COL13A1_ENST00000520133.1_Splice_Site|COL13A1_ENST00000522165.1_Splice_Site|COL13A1_ENST00000398971.3_Splice_Site|COL13A1_ENST00000398968.3_Splice_Site Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) TTGGTTTTTTAGGAGATCCGG 0.542000 44 301 0 0 0.003610 0 0 NCOA5 57727 broad.mit.edu 37 20 44697169 44697169 + Silent SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:44697169T>A ENST00000290231.6 - 4 638 c.474A>T c.(472-474)ccA>ccT p.P158P NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 158 Transcription repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) TTTCTGGGCCTGGAGGGCCCC 0.423000 15 74 0 0 0.003163 0 0 VWA8 23078 broad.mit.edu 37 13 42179326 42179326 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr13:42179326C>A ENST00000379310.3 - 40 5032 c.4964G>T c.(4963-4965)cGa>cTa p.R1655L NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 CAGGATGATTCGGAGGGAGTG 0.428000 13 76 9.31168e-06 1.69457e-05 0.001855 1 0 SUCLA2 8803 broad.mit.edu 37 13 48528531 48528531 + Splice_Site SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr13:48528531C>G ENST00000378654.3 - 7 1020 c.964_splice c.e7+1 p.V322_splice SUCLA2_ENST00000544100.1_Splice_Site_p.V188_splice|SUCLA2_ENST00000534875.1_Splice_Site_p.V264_splice|SUCLA2_ENST00000543413.1_Splice_Site_p.V264_splice NM_003850.2 NP_003841.1 Q9P2R7 SUCB1_HUMAN succinate-CoA ligase, ADP-forming, beta subunit 322 succinyl-CoA pathway|tricarboxylic acid cycle mitochondrial matrix ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4) 15 all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;2.1e-06) Succinic acid(DB00139) CACATGGTACCTAGGCAGCCT 0.358000 14 64 0 0 0.001855 0 0 RAP2A 5911 broad.mit.edu 37 13 98116573 98116573 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr13:98116573G>T ENST00000245304.4 + 2 678 c.429G>T c.(427-429)atG>atT p.M143I NM_021033.6 NP_066361.1 P10114 RAP2A_HUMAN RAP2A, member of RAS oncogene family 143 actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade recycling endosome membrane GTP binding|GTPase activity|protein binding p.M143I(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.166) GCCCCTTTATGGAAACTTCCG 0.493000 15 84 2.32078e-09 4.8408e-09 0.003163 1 0 SLC9A2 6549 broad.mit.edu 37 2 103300704 103300704 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:103300704T>C ENST00000233969.2 + 5 1476 c.1334T>C c.(1333-1335)tTa>tCa p.L445S NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 445 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TGTTTTGCGTTAGTGTTTCTC 0.438000 22 140 0 0 0.002780 0 0 MRC2 9902 broad.mit.edu 37 17 60754766 60754766 + Silent SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:60754766G>T ENST00000303375.5 + 12 2373 c.1971G>T c.(1969-1971)ccG>ccT p.P657P NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 657 endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 CGGAGCTGCCGGGGCCAGATC 0.667000 5 20 3.59834e-05 6.30586e-05 0.001168 1 0 OR2T33 391195 broad.mit.edu 37 1 248436913 248436913 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:248436913G>T ENST00000318021.2 - 1 225 c.204C>A c.(202-204)gaC>gaA p.D68E NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCAGCATCATGTCCATGAGGG 0.557000 19 142 7.87624e-14 1.81093e-13 0.002780 1 0 CA10 56934 broad.mit.edu 37 17 50235099 50235099 + Silent SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:50235099G>T ENST00000451037.2 - 1 988 c.48C>A c.(46-48)atC>atA p.I16I CA10_ENST00000285273.4_Silent_p.I16I|CA10_ENST00000340813.6_5'UTR|CA10_ENST00000570565.1_Intron|CA10_ENST00000442502.2_Silent_p.I16I NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 16 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) ATATGCAGACGATGAAATTGG 0.498000 20 73 5.26018e-13 1.19417e-12 0.001882 1 0 MUC5B 727897 broad.mit.edu 37 11 1261536 1261536 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:1261536G>A ENST00000447027.1 + 30 3968 c.3910G>A c.(3910-3912)Gca>Aca p.A1304T MUC5B_ENST00000529681.1_Missense_Mutation_p.A1301T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1301 cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GAAGGCTGTGGCATGTCCTGG 0.607000 6 54 0 0 0.001168 0 0 KDELC1 79070 broad.mit.edu 37 13 103443408 103443408 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr13:103443408C>A ENST00000376004.4 - 6 1262 c.926G>T c.(925-927)gGg>gTg p.G309V KDELC1_ENST00000460338.1_5'UTR NM_024089.2 NP_076994.2 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 309 endoplasmic reticulum lumen central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GCTGTCTCGCCCTCTCCAGAC 0.478000 12 65 0.000978159 0.00160176 0.000978 1 0 MROH2B 133558 broad.mit.edu 37 5 41004915 41004915 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:41004915G>C ENST00000399564.4 - 36 4422 c.3972C>G c.(3970-3972)atC>atG p.I1324M MROH2B_ENST00000506092.2_Missense_Mutation_p.I879M NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B p.I1324M(1) CGAGCCCTCGGATGGCCATCT 0.473000 3 96 0 0 0.004672 0 0 MIR498 574460 broad.mit.edu 37 19 54177564 54177564 + RNA SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:54177564C>T ENST00000385134.1 + 0 114 NR_030182.1 GAGCAATCGTCTAAGGAAGTT 0.408000 6 64 0 0 0.003080 0 0 BICC1 80114 broad.mit.edu 37 10 60573725 60573725 + Missense_Mutation SNP A A C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr10:60573725A>C ENST00000373886.3 + 18 2516 c.2512A>C c.(2512-2514)Aag>Cag p.K838Q BICC1_ENST00000263103.1_Missense_Mutation_p.K464Q NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 838 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 TGGCAGCCCTAAGCGTAAACA 0.428000 9 70 0 0 0.008291 0 0 IGHV1-69 28461 broad.mit.edu 37 14 107170215 107170215 + RNA SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr14:107170215G>T ENST00000390633.2 - 0 127 GACTGCACCAGCTGCACCTGG 0.557000 9 72 0.00621372 0.00980023 0.006214 1 0 OR52E2 119678 broad.mit.edu 37 11 5079889 5079889 + Silent SNP C C A rs148031312 TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:5079889C>A ENST00000321522.2 - 1 968 c.969G>T c.(967-969)acG>acT p.T323T NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 323 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) TTCAGAACCTCGTATGTATTA 0.318000 8 34 0.000274275 0.000456617 0.004482 1 0 ARHGAP18 93663 broad.mit.edu 37 6 129905144 129905144 + Silent SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:129905144G>A ENST00000368149.2 - 13 1915 c.1827C>T c.(1825-1827)ctC>ctT p.L609L ARHGAP18_ENST00000463225.1_5'UTR NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 609 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) TTTCTTGGCTGAGAAACCTGG 0.453000 8 31 0 0 0.006214 0 0 TNFRSF17 608 broad.mit.edu 37 16 12061593 12061593 + Silent SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr16:12061593T>A ENST00000053243.1 + 3 662 c.444T>A c.(442-444)gcT>gcA p.A148A RP11-166B2.1_ENST00000532936.1_Intron|TNFRSF17_ENST00000396495.3_Silent_p.A99A NM_001192.2 NP_001183.2 Q02223 TNR17_HUMAN tumor necrosis factor receptor superfamily, member 17 148 cell proliferation|multicellular organismal development endomembrane system|integral to membrane|plasma membrane large_intestine(3)|lung(3) 6 CACTCCCAGCTATGGAGGAAG 0.498000 T IL2 intestinal T-cell lymphoma 7 59 0 0 0.003080 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143973956 143973956 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:143973956G>T ENST00000409869.1 + 5 415 c.238G>T c.(238-240)Gtt>Ttt p.V80F ARHGAP15_ENST00000295095.6_Missense_Mutation_p.V80F Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 80 PH. regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) CTTGCAGATGGTTGAAAAAGA 0.323000 8 54 0.000274275 0.000456617 0.004482 1 0 PSMC6 5706 broad.mit.edu 37 14 53175037 53175037 + Missense_Mutation SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr14:53175037A>T ENST00000445930.2 + 2 144 c.138A>T c.(136-138)caA>caT p.Q46H PSMC6_ENST00000606149.1_Missense_Mutation_p.Q32H P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 32 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 19 Breast(41;0.176) TAAGGGAACAATTAAAAGAAC 0.378000 4 29 0 0 0.000248 0 0 MED12L 116931 broad.mit.edu 37 3 150877677 150877677 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:150877677C>G ENST00000474524.1 + 7 934 c.896C>G c.(895-897)gCc>gGc p.A299G MED12L_ENST00000422248.2_Missense_Mutation_p.A299G|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Missense_Mutation_p.A299G NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 299 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TACTTTTGTGCCCGGCGTCTT 0.532000 33 157 0 0 0.002836 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531579 140531579 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:140531579G>A ENST00000231136.1 + 1 1741 c.1741G>A c.(1741-1743)Ggc>Agc p.G581S PCDHB6_ENST00000543635.1_Missense_Mutation_p.G445S NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 581 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCCGAGCCGGGCTACCTGGT 0.697000 15 56 0 0 0.003954 0 0 ZFP64 55734 broad.mit.edu 37 20 50776818 50776818 + Missense_Mutation SNP A A C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:50776818A>C ENST00000216923.4 - 5 956 c.607T>G c.(607-609)Tac>Gac p.Y203D ZFP64_ENST00000371518.2_Missense_Mutation_p.Y203D|ZFP64_ENST00000361387.2_Missense_Mutation_p.Y203D|ZFP64_ENST00000346617.4_Missense_Mutation_p.Y149D|ZFP64_ENST00000371515.4_Missense_Mutation_p.Y201D|ZFP64_ENST00000477786.1_5'UTR NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 TTACACTTGTAGGGCTTCACG 0.552000 5 160 0 0 0.000602 0 0 VNN1 8876 broad.mit.edu 37 6 133004457 133004457 + Nonsense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:133004457G>T ENST00000367928.4 - 7 1377 c.1364C>A c.(1363-1365)tCa>tAa p.S455* NM_004666.2 NP_004657.2 O95497 VNN1_HUMAN vanin 1 455 acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) TCCGTCAGTTGACACCTGATT 0.378000 8 23 1.12685e-05 2.03014e-05 0.004482 1 0 SNRPF 6636 broad.mit.edu 37 12 96259135 96259135 + Silent SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:96259135T>C ENST00000266735.5 + 3 309 c.163T>C c.(163-165)Ttg>Ctg p.L55L SNRPF_ENST00000552085.1_Intron|SNRPF_ENST00000553192.1_Intron NM_003095.2 NP_003086.1 P62306 RUXF_HUMAN small nuclear ribonucleoprotein polypeptide F 55 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding kidney(1)|lung(1) 2 AGATGGAGCTTTGTCTGGACA 0.308000 7 79 0 0 0.003080 0 0 HSPA1L 3305 broad.mit.edu 37 6 31777894 31777894 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:31777894C>A ENST00000375654.4 - 2 2045 c.1856G>T c.(1855-1857)gGg>gTg p.G619V HSPA1L_ENST00000417199.3_Missense_Mutation_p.G619V NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 619 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GCAGGCAGGCCCAGTGCATCC 0.458000 24 69 6.32553e-13 1.42881e-12 0.004656 1 0 BRINP1 1620 broad.mit.edu 37 9 121929393 121929393 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr9:121929393T>C ENST00000265922.3 - 8 2716 c.2255A>G c.(2254-2256)cAg>cGg p.Q752R DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 752 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CTGGTCCGACTGTTTGAGGAT 0.488000 14 194 0 0 0.004990 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135101714 135101714 + Silent SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr10:135101714C>G ENST00000368563.2 - 11 1997 c.1641G>C c.(1639-1641)acG>acC p.T547T TUBGCP2_ENST00000543663.1_Silent_p.T575T|TUBGCP2_ENST00000368562.1_Silent_p.T140T|TUBGCP2_ENST00000252936.3_Silent_p.T547T|TUBGCP2_ENST00000417178.2_Silent_p.T417T NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 547 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) GGCGAGGGGGCGTGATGTCCT 0.657000 4 53 0 0 0.000248 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900415 151900415 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:151900415G>T ENST00000393900.3 - 3 739 c.386C>A c.(385-387)cCa>cAa p.P129Q MAGEA12_ENST00000357916.4_Missense_Mutation_p.P129Q|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.P129Q NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 129 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CTTTGTGAATGGCTCCCTGGC 0.493000 16 71 4.75885e-15 1.11122e-14 0.004990 1 0 WRB 7485 broad.mit.edu 37 21 40768830 40768830 + Missense_Mutation SNP A A C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr21:40768830A>C ENST00000333781.5 + 5 631 c.490A>C c.(490-492)Aaa>Caa p.K164Q WRB_ENST00000466787.1_3'UTR|WRB_ENST00000380708.1_Missense_Mutation_p.K130Q|WRB_ENST00000541890.1_Intron|WRB_ENST00000398753.1_Missense_Mutation_p.K130Q NM_004627.4 NP_004618.2 O00258 WRB_HUMAN tryptophan rich basic protein 164 integral to membrane|nucleolus endometrium(3) 3 Prostate(19;1.2e-06) AGTCTGTAACAAAGTTGTCGC 0.458000 27 71 0 0 0.008361 0 0 GRIA4 2893 broad.mit.edu 37 11 105804662 105804662 + Missense_Mutation SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:105804662A>G ENST00000393127.2 + 14 2707 c.2261A>G c.(2260-2262)tAt>tGt p.Y754C GRIA4_ENST00000282499.5_Missense_Mutation_p.Y754C|GRIA4_ENST00000525187.1_Missense_Mutation_p.Y754C|GRIA4_ENST00000530497.1_Missense_Mutation_p.Y754C NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 754 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TCCAAAGGCTATGGAGTAGCA 0.433000 8 47 0 0 0.003080 0 0 BCL2 596 broad.mit.edu 37 18 60985555 60985555 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr18:60985555C>T ENST00000398117.1 - 1 1806 c.345G>A c.(343-345)atG>atA p.M115I BCL2_ENST00000444484.1_Missense_Mutation_p.M115I|BCL2_ENST00000589955.1_Missense_Mutation_p.M115I|BCL2_ENST00000333681.4_Missense_Mutation_p.M115I NM_000633.2 NP_000624.2 P10415 BCL2_HUMAN B-cell CLL/lymphoma 2 115 activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3) 113 all_hematologic(56;1.18e-20)|Prostate(75;0.0872) Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935) Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367) GCTGGCTGGACATCTCGGCGA 0.706000 T IGH@ """NHL, CLL""" 9 62 0 0 0.008291 0 0 HSPA12B 116835 broad.mit.edu 37 20 3722989 3722989 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:3722989T>A ENST00000254963.2 + 4 345 c.200T>A c.(199-201)tTc>tAc p.F67Y HSPA12B_ENST00000542646.1_Intron NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 67 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 GCCATTGACTTCGGCACCACG 0.587000 29 43 0 0 0.008361 0 0 HERC2 8924 broad.mit.edu 37 15 28427567 28427567 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr15:28427567C>A ENST00000261609.7 - 57 9025 c.8917G>T c.(8917-8919)Ggc>Tgc p.G2973C NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2973 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TTCAGCCCGCCCAGCTGGTCC 0.547000 21 71 1.64113e-05 2.92154e-05 0.001523 1 0 EP400 57634 broad.mit.edu 37 12 132472367 132472367 + Nonsense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:132472367G>T ENST00000333577.4 + 8 2558 c.2449G>T c.(2449-2451)Gag>Tag p.E817* EP400_ENST00000330386.6_Nonsense_Mutation_p.E781*|EP400_ENST00000332482.4_Nonsense_Mutation_p.E744*|EP400_ENST00000389561.2_Nonsense_Mutation_p.E781*|EP400_ENST00000389562.2_Nonsense_Mutation_p.E780* Q96L91 EP400_HUMAN E1A binding protein p400 817 HSA. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CTATCTGCTGGAGGAGATGCA 0.617000 9 30 5.4927e-09 1.12226e-08 0.004482 1 0 KEL 3792 broad.mit.edu 37 7 142650930 142650930 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:142650930C>T ENST00000355265.2 - 9 1512 c.1038G>A c.(1036-1038)atG>atA p.M346I KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 346 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CCAGTTGTGACATGTTTTTCA 0.532000 20 278 0 0 0.001523 0 0 IGF2R 3482 broad.mit.edu 37 6 160484449 160484449 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:160484449G>T ENST00000356956.1 + 27 3821 c.3673G>T c.(3673-3675)Gac>Tac p.D1225Y NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1225 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TCTTGAAGGGGACAACTGTGA 0.507000 12 76 5.50884e-06 1.00659e-05 0.001368 1 0 TEX15 56154 broad.mit.edu 37 8 30701510 30701510 + Nonsense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:30701510C>T ENST00000256246.2 - 1 5098 c.5024G>A c.(5023-5025)tGg>tAg p.W1675* NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1675 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GCAATTATTCCACAGGTTTTG 0.333000 7 88 0 0 0.001984 0 0 PDE8B 8622 broad.mit.edu 37 5 76607860 76607860 + Silent SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:76607860G>C ENST00000264917.5 + 2 426 c.381G>C c.(379-381)ctG>ctC p.L127L PDE8B_ENST00000342343.4_Intron|PDE8B_ENST00000340978.3_Silent_p.L127L|PDE8B_ENST00000333194.4_Silent_p.L127L|PDE8B_ENST00000346042.3_Silent_p.L127L NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 127 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) CCATGAGACTGACGCAGGACC 0.438000 7 118 0 0 0.001984 0 0 TLR9 54106 broad.mit.edu 37 3 52257839 52257839 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:52257839C>T ENST00000597542.1 - 9 1522 c.565G>A c.(565-567)Ggc>Agc p.G189S TLR9_ENST00000360658.2_Missense_Mutation_p.G165S|TLR9_ENST00000494383.1_Missense_Mutation_p.R318Q Q9NR96 TLR9_HUMAN toll-like receptor 9 165 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) GCATGCAGGCCGGCGAGGCTG 0.587000 17 146 0 0 0.007413 0 0 HTT 3064 broad.mit.edu 37 4 3221999 3221999 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr4:3221999G>A ENST00000355072.5 + 53 7478 c.7333G>A c.(7333-7335)Gtc>Atc p.V2445I NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2445 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GGAAAAGGAAGTCTTTAAGGA 0.527000 22 76 0 0 0.001882 0 0 OR13C3 138803 broad.mit.edu 37 9 107298308 107298308 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr9:107298308C>G ENST00000374781.2 - 1 829 c.787G>C c.(787-789)Gga>Cga p.G263R NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 TTGCGTCTTCCTGTGGCTGAA 0.428000 27 89 0 0 0.003271 0 0 DAB2 1601 broad.mit.edu 37 5 39383078 39383078 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:39383078G>C ENST00000545653.1 - 9 1450 c.920C>G c.(919-921)tCt>tGt p.S307C DAB2_ENST00000320816.6_Missense_Mutation_p.S328C|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.S307C NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 328 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) CAGCGGAGTAGACGAGCTACT 0.478000 7 143 0 0 0.003080 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14791461 14791461 + Missense_Mutation SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr18:14791461A>T ENST00000358984.4 + 16 1976 c.1796A>T c.(1795-1797)gAa>gTa p.E599V ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E599V|ANKRD30B_ENST00000579292.1_Intron NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 599 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 CATCAAAAAGAATTCGATACC 0.299000 5 46 0 0 0.001984 0 0 RNF220 55182 broad.mit.edu 37 1 44878266 44878266 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:44878266G>T ENST00000355387.2 + 2 947 c.497G>T c.(496-498)gGg>gTg p.G166V RNF220_ENST00000372247.2_Missense_Mutation_p.G166V|RNF220_ENST00000361799.2_Missense_Mutation_p.G166V Q5VTB9 RN220_HUMAN ring finger protein 220 166 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 TATGACTTTGGGACACAGCTG 0.517000 13 63 9.31168e-06 1.69457e-05 0.001855 1 0 TRPV5 56302 broad.mit.edu 37 7 142625300 142625300 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:142625300C>A ENST00000265310.1 - 7 1140 c.792G>T c.(790-792)agG>agT p.R264S TRPV5_ENST00000442623.1_Missense_Mutation_p.R264S NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 264 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) ACTGGATGTGCCTCCGCTTCT 0.567000 18 103 1.37657e-19 3.33567e-19 0.001882 1 0 MUC16 94025 broad.mit.edu 37 19 9059515 9059515 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:9059515T>C ENST00000397910.4 - 3 28134 c.27931A>G c.(27931-27933)Agt>Ggt p.S9311G NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9313 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGGGCACACTAGAAAGGACA 0.498000 41 126 0 0 0.002222 0 0 OR4N4 283694 broad.mit.edu 37 15 22382496 22382496 + Silent SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr15:22382496A>T ENST00000328795.4 + 1 115 c.24A>T c.(22-24)gtA>gtT p.V8V RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ACAACACAGTAGTGACAGAAT 0.353000 10 99 0 0 0.001368 0 0 CHI3L2 1117 broad.mit.edu 37 1 111772476 111772476 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:111772476G>A ENST00000445067.2 + 4 814 c.43G>A c.(43-45)Gta>Ata p.V15I CHI3L2_ENST00000466741.1_5'UTR|CHI3L2_ENST00000369744.2_Intron|CHI3L2_ENST00000369748.4_Missense_Mutation_p.V15I|CHI3L2_ENST00000524472.1_5'UTR Q15782 CH3L2_HUMAN chitinase 3-like 2 15 chitin catabolic process extracellular space cation binding|chitinase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) TATTGCAGGTGTAGTGGTCTT 0.463000 5 60 0 0 0.003080 0 0 ACAP1 9744 broad.mit.edu 37 17 7249762 7249762 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:7249762G>T ENST00000158762.3 + 12 1165 c.959G>T c.(958-960)tGc>tTc p.C320F NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 320 PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 GTGAAACTCTGCCCTGACTCA 0.522000 OREG0024135 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 72 5.50884e-06 1.00659e-05 0.001368 1 0 TMEM135 65084 broad.mit.edu 37 11 87032340 87032340 + Missense_Mutation SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:87032340A>T ENST00000340353.7 + 14 1478 c.1276A>T c.(1276-1278)Act>Tct p.T426S TMEM135_ENST00000535167.1_Missense_Mutation_p.T309S|TMEM135_ENST00000305494.5_Missense_Mutation_p.T448S|TMEM135_ENST00000532959.1_Missense_Mutation_p.T319S NM_001168724.1 NP_001162195.1 Q86UB9 TM135_HUMAN transmembrane protein 135 448 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AAGATACACAACTGTAACACC 0.383000 9 71 0 0 0.008291 0 0 CHRNA3 1136 broad.mit.edu 37 15 78894553 78894553 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr15:78894553G>T ENST00000326828.5 - 5 815 c.431C>A c.(430-432)aCt>aAt p.T144N CHRNA3_ENST00000348639.3_Missense_Mutation_p.T144N NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 144 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CACCTCCCCAGTGTACTTGAG 0.483000 9 56 0.000274275 0.000456617 0.004482 1 0 CTDP1 9150 broad.mit.edu 37 18 77456032 77456032 + Missense_Mutation SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr18:77456032A>G ENST00000299543.7 + 3 601 c.454A>G c.(454-456)Atg>Gtg p.M152V CTDP1_ENST00000075430.7_Missense_Mutation_p.M152V NM_001202504.1|NM_004715.4 NP_001189433.1|NP_004706.3 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 152 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) GACCGTGTCCATGGTGCACAG 0.632000 4 32 0 0 0.000248 0 0 YTHDC2 64848 broad.mit.edu 37 5 112849745 112849745 + Silent SNP C C T rs150619659 TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:112849745C>T ENST00000161863.4 + 1 366 c.153C>T c.(151-153)atC>atT p.I51I YTHDC2_ENST00000515883.1_Silent_p.I51I NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 51 R3H. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) CAGTCAATATCGCGCTGGAGC 0.667000 14 18 0 0 0.004007 0 0 LONRF1 91694 broad.mit.edu 37 8 12600764 12600764 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:12600764T>C ENST00000398246.3 - 2 818 c.749A>G c.(748-750)tAc>tGc p.Y250C LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR NM_152271.3 NP_689484.3 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 1 250 proteolysis ATP-dependent peptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 READ - Rectum adenocarcinoma(644;0.236) TTCCGCTCTGTAAATTTTTAC 0.294000 10 37 0 0 0.000978 0 0 TNR 7143 broad.mit.edu 37 1 175375656 175375656 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:175375656G>T ENST00000367674.1 - 3 903 c.195C>A c.(193-195)ttC>ttA p.F65L TNR_ENST00000263525.2_Missense_Mutation_p.F65L NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 65 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ACACGTGGTTGAAGACCACAG 0.557000 23 106 3.8784e-16 9.12745e-16 0.001882 1 0 DMXL2 23312 broad.mit.edu 37 15 51780177 51780177 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr15:51780177C>A ENST00000251076.5 - 22 5478 c.5191G>T c.(5191-5193)Gct>Tct p.A1731S RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.A1731S|DMXL2_ENST00000449909.3_Missense_Mutation_p.A1095S NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1731 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) AATGAACCAGCTAGCAAGAAA 0.338000 20 145 4.35082e-09 8.9301e-09 0.001523 1 0 ZNF677 342926 broad.mit.edu 37 19 53747081 53747081 + Nonsense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:53747081G>A ENST00000333952.4 - 4 250 c.85C>T c.(85-87)Cag>Tag p.Q29* ZNF677_ENST00000599012.1_Nonsense_Mutation_p.Q29*|ZNF677_ENST00000598806.1_Nonsense_Mutation_p.Q29*|ZNF677_ENST00000601828.1_Nonsense_Mutation_p.Q29*|ZNF677_ENST00000598513.1_Nonsense_Mutation_p.Q29*|ZNF677_ENST00000601413.1_Nonsense_Mutation_p.Q29*|ZNF677_ENST00000594681.1_Nonsense_Mutation_p.Q29* Q86XU0 ZN677_HUMAN zinc finger protein 677 29 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) AAGGCCCTCTGGGCAGGGTCC 0.493000 28 81 0 0 0.006320 0 0 MCCC2 64087 broad.mit.edu 37 5 70922501 70922501 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:70922501G>C ENST00000340941.6 + 7 788 c.659G>C c.(658-660)gGa>gCa p.G220A MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Intron|MCCC2_ENST00000509358.2_Missense_Mutation_p.G220A NM_022132.4 NP_071415.1 Q9HCC0 MCCB_HUMAN methylcrotonoyl-CoA carboxylase 2 (beta) 220 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 30 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) ACCGCAGGAGGAGCCTATGTG 0.502000 7 29 0 0 0.003080 0 0 SLC2A2 6514 broad.mit.edu 37 3 170715881 170715881 + Silent SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:170715881T>C ENST00000314251.3 - 11 1465 c.1386A>G c.(1384-1386)ggA>ggG p.G462G SLC2A2_ENST00000382808.4_Silent_p.G343G NM_000340.1 NP_000331.1 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose transporter), member 2 462 carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) ACACATAAGGTCCACAGAAGT 0.403000 4 21 0 0 0.000248 0 0 PLEKHA8P1 51054 broad.mit.edu 37 12 45567501 45567501 + RNA SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:45567501T>C ENST00000256692.5 - 0 1184 NR_037144.1 breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AGAATGCTTCTGTGGGAATGC 0.423000 23 157 0 0 0.003954 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38572407 38572407 + Missense_Mutation SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:38572407A>G ENST00000222345.6 + 3 711 c.202A>G c.(202-204)Agc>Ggc p.S68G NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 68 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) caccCGCCCCAGCCCCACCAC 0.716000 3 5 0 0 0.000602 0 0 ZBTB20 26137 broad.mit.edu 37 3 114070610 114070610 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:114070610G>C ENST00000462705.1 - 11 917 c.96C>G c.(94-96)gaC>gaG p.D32E ZBTB20_ENST00000357258.3_Missense_Mutation_p.D32E|ZBTB20_ENST00000471418.1_Missense_Mutation_p.D32E|ZBTB20_ENST00000393785.2_Missense_Mutation_p.D32E|ZBTB20_ENST00000464560.1_Missense_Mutation_p.D32E|ZBTB20_ENST00000474710.1_Missense_Mutation_p.D105E|ZBTB20_ENST00000481632.1_Missense_Mutation_p.D32E NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GCACCGTTACGTCACAGAAGT 0.612000 7 34 0 0 0.004482 0 0 EP300 2033 broad.mit.edu 37 22 41568563 41568563 + Nonsense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr22:41568563G>T ENST00000263253.7 + 28 5732 c.4513G>T c.(4513-4515)Gag>Tag p.E1505* RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1505 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GCCTTATTTCGAGGGTGATTT 0.383000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 6 37 5.9392e-07 1.14578e-06 0.001168 1 0 KRT74 121391 broad.mit.edu 37 12 52967151 52967151 + Silent SNP G G T rs149972815 by1000genomes TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:52967151G>T ENST00000549343.1 - 1 449 c.411C>A c.(409-411)cgC>cgA p.R137R KRT74_ENST00000305620.2_Silent_p.R137R Q7RTS7 K2C74_HUMAN keratin 74 137 Head. keratin filament structural molecule activity p.R137R(1) kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) GCTCCTGGGCGCGCACCTTCT 0.607000 22 101 1.10513e-12 2.4653e-12 0.002299 1 0 SNX25 83891 broad.mit.edu 37 4 186185599 186185599 + Nonsense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr4:186185599G>T ENST00000504273.1 + 4 541 c.247G>T c.(247-249)Gaa>Taa p.E83* SNX25_ENST00000264694.8_Nonsense_Mutation_p.E83* Q9H3E2 SNX25_HUMAN sorting nexin 25 83 PXA. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) TAGACATGAAGAACAGCCAAG 0.348000 27 81 3.99451e-17 9.42536e-17 0.001786 1 0 CCDC110 256309 broad.mit.edu 37 4 186379887 186379887 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr4:186379887C>A ENST00000307588.3 - 6 1929 c.1854G>T c.(1852-1854)gaG>gaT p.E618D CCDC110_ENST00000393540.3_Missense_Mutation_p.E581D|CCDC110_ENST00000510617.1_Missense_Mutation_p.E618D NM_152775.3 NP_689988.1 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 618 nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) ATCTTTCTTTCTCTTTTAGCT 0.318000 21 58 1.10923e-09 2.32447e-09 0.002780 1 0 BACH2 60468 broad.mit.edu 37 6 90661400 90661400 + Missense_Mutation SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:90661400A>T ENST00000257749.4 - 7 1132 c.425T>A c.(424-426)gTg>gAg p.V142E RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.V142E|BACH2_ENST00000537989.1_Missense_Mutation_p.V142E NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 142 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CTTCCGGCACACAAACAGGCC 0.592000 14 44 0 0 0.001855 0 0 OR13C3 138803 broad.mit.edu 37 9 107298307 107298307 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr9:107298307C>A ENST00000374781.2 - 1 830 c.788G>T c.(787-789)gGa>gTa p.G263V NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 CTTGCGTCTTCCTGTGGCTGA 0.428000 26 88 1.36615e-20 3.32836e-20 0.002836 1 0 RSBN1 54665 broad.mit.edu 37 1 114340623 114340623 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:114340623C>A ENST00000261441.5 - 2 802 c.739G>T c.(739-741)Gat>Tat p.D247Y NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 247 nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAAAATCATCGGCTCTCTGG 0.363000 12 104 1.5842e-08 3.20044e-08 0.001855 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651075 84651075 + Missense_Mutation SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr15:84651075C>T ENST00000286744.5 + 21 2919 c.2695C>T c.(2695-2697)Ctc>Ttc p.L899F ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.L899F NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 899 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TCCGCAGATCCTCAGTGTCCA 0.403000 8 68 0 0 0.006214 0 0 OR2H1 26716 broad.mit.edu 37 6 29429911 29429911 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:29429911T>C ENST00000377136.1 + 4 830 c.365T>C c.(364-366)gTg>gCg p.V122A OR2H1_ENST00000396792.2_Missense_Mutation_p.V122A|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377133.1_Missense_Mutation_p.V122A|OR2H1_ENST00000377132.1_Missense_Mutation_p.V122A|OR2H1_ENST00000442615.1_Missense_Mutation_p.V122A Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, member 1 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 GACCGATACGTGGCTGTCTGC 0.577000 12 127 0 0 0.001855 0 0 STK16 8576 broad.mit.edu 37 2 220112227 220112227 + Silent SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:220112227G>T ENST00000409638.3 + 5 703 c.531G>T c.(529-531)gtG>gtT p.V177V STK16_ENST00000409516.3_Silent_p.V59V|STK16_ENST00000486813.1_3'UTR|STK16_ENST00000409260.1_Silent_p.V222V|STK16_ENST00000409743.1_Silent_p.V177V|STK16_ENST00000396738.2_Silent_p.V177V NM_001008910.2 NP_001008910.1 O75716 STK16_HUMAN serine/threonine kinase 16 177 Protein kinase. protein complex assembly membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(1) 1 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCATCCATGTGGAGGGCTCCC 0.517000 12 146 2.80697e-09 5.81445e-09 0.000978 1 0 CST1 1469 broad.mit.edu 37 20 23731380 23731380 + Nonsense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:23731380C>A ENST00000304749.2 - 1 194 c.124G>T c.(124-126)Gag>Tag p.E42* CST1_ENST00000398402.1_Nonsense_Mutation_p.E42* NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 42 extracellular region cysteine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) TGTACCCACTCATCATTGAGG 0.577000 18 50 1.96292e-10 4.22169e-10 0.001523 1 0 PTPRD 5789 broad.mit.edu 37 9 8331720 8331720 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr9:8331720G>C ENST00000381196.4 - 41 5939 c.5396C>G c.(5395-5397)aCa>aGa p.T1799R PTPRD_ENST00000397611.3_Missense_Mutation_p.T1389R|PTPRD_ENST00000397606.3_Missense_Mutation_p.T1392R|PTPRD_ENST00000360074.4_Missense_Mutation_p.T1786R|PTPRD_ENST00000358503.5_Missense_Mutation_p.T1777R|PTPRD_ENST00000356435.5_Missense_Mutation_p.T1799R|PTPRD_ENST00000540109.1_Missense_Mutation_p.T1799R|PTPRD_ENST00000355233.5_Missense_Mutation_p.T1393R|PTPRD_ENST00000537002.1_Missense_Mutation_p.T1389R|PTPRD_ENST00000486161.1_Missense_Mutation_p.T1392R|PTPRD_ENST00000397617.3_Missense_Mutation_p.T1392R NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1799 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CTGCCTTACTGTTCGGGACTG 0.498000 TSP Lung(15;0.13) 5 74 0 0 0.000602 0 0 WNK3 65267 broad.mit.edu 37 X 54319419 54319419 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:54319419C>A ENST00000354646.2 - 10 2377 c.1939G>T c.(1939-1941)Ggt>Tgt p.G647C WNK3_ENST00000375159.2_Missense_Mutation_p.G647C|WNK3_ENST00000375169.3_Missense_Mutation_p.G647C NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 647 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 GTGGACTGACCTTGAACCAAA 0.413000 7 22 0.000157383 0.000267462 0.003080 1 0 OR2M4 26245 broad.mit.edu 37 1 248402299 248402299 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:248402299C>A ENST00000306687.1 + 1 69 c.69C>A c.(67-69)acC>acA p.T23T NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ACAGTCCCACCCACACCTTCC 0.448000 20 98 2.98393e-07 5.80639e-07 0.002780 1 0 RYR3 6263 broad.mit.edu 37 15 33954739 33954739 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr15:33954739C>A ENST00000389232.4 + 35 5078 c.5008C>A c.(5008-5010)Cct>Act p.P1670T RYR3_ENST00000415757.3_Missense_Mutation_p.P1670T NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1670 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GTTCTCCACCCCTTGCTTTGT 0.572000 8 43 0.00307968 0.00493517 0.003080 1 0 CDH10 1008 broad.mit.edu 37 5 24491734 24491734 + Silent SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:24491734G>A ENST00000264463.4 - 11 2334 c.1827C>T c.(1825-1827)ctC>ctT p.L609L CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 609 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CCCCAGTGCTGAGGCCGGCAG 0.517000 HNSCC(23;0.051) 12 109 0 0 0.002450 0 0 ZBBX 79740 broad.mit.edu 37 3 167068220 167068220 + Silent SNP T T G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:167068220T>G ENST00000392766.2 - 9 856 c.516A>C c.(514-516)acA>acC p.T172T ZBBX_ENST00000307529.5_Silent_p.T172T|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Silent_p.T172T|ZBBX_ENST00000392767.2_Silent_p.T172T|ZBBX_ENST00000392764.1_Silent_p.T143T NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 172 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 GCAAAAGAGTTGTTCTGTGGA 0.328000 7 203 0 0 0.003080 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746443 77746443 + Missense_Mutation SNP A A C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:77746443A>C ENST00000409088.3 - 3 966 c.552T>G c.(550-552)gaT>gaG p.D184E LRRTM4_ENST00000409884.1_Missense_Mutation_p.D184E|LRRTM4_ENST00000409282.1_Missense_Mutation_p.D185E|LRRTM4_ENST00000409911.1_Missense_Mutation_p.D185E|LRRTM4_ENST00000409093.1_Missense_Mutation_p.D184E NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 184 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) AATCCAAAAAATCAAGATTCC 0.413000 4 88 0 0 0.000602 0 0 CDK9 1025 broad.mit.edu 37 9 130548455 130548455 + Missense_Mutation SNP T T G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr9:130548455T>G ENST00000373265.2 + 1 379 c.379T>G c.(379-381)Tgc>Ggc p.C127G CDK9_ENST00000480353.1_3'UTR|CDK9_ENST00000373264.4_Missense_Mutation_p.C10G P50750 CDK9_HUMAN cyclin-dependent kinase 9 10 Protein kinase. cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription elongation factor complex ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(1) 1 CTCGGTGGAGTGCCCTTTTTG 0.692000 10 32 0 0 0.008291 0 0 OR2F1 26211 broad.mit.edu 37 7 143657426 143657426 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:143657426C>A ENST00000392899.1 + 1 400 c.363C>A c.(361-363)gaC>gaA p.D121E NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) TGGCCTATGACCGCTATGTGG 0.542000 39 94 1.07637e-12 2.4071e-12 0.004878 1 0 CRABP2 1382 broad.mit.edu 37 1 156670737 156670737 + Missense_Mutation SNP G G A rs144578509 by1000genomes TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:156670737G>A ENST00000368222.3 - 2 332 c.178C>T c.(178-180)Cgc>Tgc p.R60C CRABP2_ENST00000368221.1_Missense_Mutation_p.R60C NM_001199723.1|NM_001878.3 NP_001186652.1|NP_001869.1 P29373 RABP2_HUMAN cellular retinoic acid binding protein 2 60 epidermis development|regulation of transcription, DNA-dependent|signal transduction cytoplasm|nucleus retinal binding|retinol binding|transporter activity p.R60C(1) endometrium(2)|lung(3)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Alitretinoin(DB00523) TCTGTGGTGCGCACGGTGGTG 0.547000 8 46 0 0 0.004482 0 0 SAMD4A 23034 broad.mit.edu 37 14 55236868 55236868 + Missense_Mutation SNP A A C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr14:55236868A>C ENST00000251091.5 + 7 1684 c.1379A>C c.(1378-1380)cAg>cCg p.Q460P SAMD4A_ENST00000392067.3_Missense_Mutation_p.Q548P|SAMD4A_ENST00000554335.1_Missense_Mutation_p.Q548P|SAMD4A_ENST00000357634.3_Missense_Mutation_p.Q547P|SAMD4A_ENST00000555192.1_Missense_Mutation_p.Q139P NM_001161576.2 NP_001155048.2 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4A 548 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 TGGAAACAGCAGGTGCAGAAG 0.418000 14 72 0 0 0.001855 0 0 MAGEB6 158809 broad.mit.edu 37 X 26211992 26211992 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:26211992G>T ENST00000379034.1 + 2 178 c.29G>T c.(28-30)cGt>cTt p.R10L NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 10 breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 AGTAAGCTCCGTACCTGTGAG 0.587000 21 29 1.55795e-14 3.60978e-14 0.001882 1 0 KCNA10 3744 broad.mit.edu 37 1 111061285 111061285 + Missense_Mutation SNP C C G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:111061285C>G ENST00000369771.2 - 1 512 c.125G>C c.(124-126)gGg>gCg p.G42A NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 42 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) GGAGCTGCCCCCAGGCCGGCC 0.552000 4 42 0 0 0.000602 0 0 GPR124 25960 broad.mit.edu 37 8 37691583 37691583 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:37691583C>T ENST00000315215.7 + 11 1908 c.1545C>T c.(1543-1545)atC>atT p.I515I GPR124_ENST00000412232.2_Silent_p.I515I Q96PE1 GP124_HUMAN G protein-coupled receptor 124 515 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GCAGCCGCATCGTGGGTGCCC 0.672000 17 49 0 0 0.004990 0 0 TLR10 81793 broad.mit.edu 37 4 38775675 38775675 + Nonsense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr4:38775675C>A ENST00000308973.4 - 4 2142 c.1537G>T c.(1537-1539)Gaa>Taa p.E513* TLR10_ENST00000508334.1_Nonsense_Mutation_p.E513*|TLR10_ENST00000506111.1_Nonsense_Mutation_p.E513*|TLR10_ENST00000361424.2_Nonsense_Mutation_p.E513* NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 513 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 GTTTTAACTTCCTGGCAGCTC 0.398000 14 57 4.3838e-07 8.51196e-07 0.001855 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18707001 18707001 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr9:18707001T>C ENST00000380548.4 + 14 2170 c.1831T>C c.(1831-1833)Tgg>Cgg p.W611R ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.W611R NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 611 TSP type-1 5. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GCTGTATGACTGGGAGTATGA 0.552000 5 41 0 0 0.001984 0 0 ILVBL 10994 broad.mit.edu 37 19 15233937 15233937 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:15233937G>T ENST00000263383.3 - 4 594 c.455C>A c.(454-456)aCt>aAt p.T152N ILVBL_ENST00000534378.1_Missense_Mutation_p.T45N|ILVBL_ENST00000531635.1_5'UTR NM_006844.3 NP_006835.2 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 152 integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1) 26 CTGCAGCAGAGTGCTGGCAGC 0.627000 11 69 1.08611e-07 2.12263e-07 0.000978 1 0 TLR8 51311 broad.mit.edu 37 X 12937314 12937314 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:12937314G>A ENST00000218032.6 + 2 242 c.155G>A c.(154-156)cGt>cAt p.R52H TLR8_ENST00000311912.5_Missense_Mutation_p.R70H NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 52 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TGCAGCAATCGTCGACTACAG 0.413000 29 21 0 0 0.006320 0 0 ABCB11 8647 broad.mit.edu 37 2 169825981 169825981 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:169825981T>A ENST00000263817.6 - 16 2014 c.1890A>T c.(1888-1890)gaA>gaT p.E630D NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 630 ABC transporter 1. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) CAGTGCCATGTTCAAAACCAA 0.448000 5 37 0 0 0.001168 0 0 VEGFC 7424 broad.mit.edu 37 4 177648962 177648962 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr4:177648962C>A ENST00000280193.2 - 3 937 c.522G>T c.(520-522)atG>atT p.M174I VEGFC_ENST00000507638.1_5'UTR NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 174 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) TGCTGGTGTTCATGCACTGCA 0.522000 22 49 1.22574e-08 2.48745e-08 0.002299 1 0 KCNJ12 3768 broad.mit.edu 37 17 21319139 21319139 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:21319139T>A ENST00000583088.1 + 3 1380 c.485T>A c.(484-486)gTg>gAg p.V162E KCNJ12_ENST00000331718.5_Missense_Mutation_p.V162E NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) GTCTTCATGGTGGTGGCCCAG 0.622000 Prostate(3;0.18) 9 73 0 0 0.004482 0 0 CCDC28B 79140 broad.mit.edu 37 1 32670290 32670290 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:32670290T>C ENST00000421922.2 + 5 717 c.617T>C c.(616-618)cTc>cCc p.L206P CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TCTCCAGCCCTCCAGGAGTAT 0.493000 3 103 0 0 0.004672 0 0 LAD1 3898 broad.mit.edu 37 1 201355871 201355871 + Silent SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:201355871C>A ENST00000391967.2 - 3 919 c.618G>T c.(616-618)gtG>gtT p.V206V LAD1_ENST00000367313.3_Silent_p.V220V NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 206 8 X SEK repeats. basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 CTGAGGCCAGCACCTTCTCAG 0.468000 30 128 1.30897e-18 3.1297e-18 0.001786 1 0 TRIM9 114088 broad.mit.edu 37 14 51448785 51448785 + Missense_Mutation SNP G G A rs148009813 TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr14:51448785G>A ENST00000298355.3 - 8 2761 c.1640C>T c.(1639-1641)tCg>tTg p.S547L TRIM9_ENST00000338969.5_Missense_Mutation_p.S628L NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 547 B30.2/SPRY. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) GATGATGTCCGAGTGCGCCGA 0.522000 4 29 0 0 0.000248 0 0 COCH 1690 broad.mit.edu 37 14 31354733 31354733 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr14:31354733C>T ENST00000460581.2 + 8 1077 c.531C>T c.(529-531)gcC>gcT p.A177A RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Silent_p.A289A|COCH_ENST00000396618.3_Silent_p.A289A|COCH_ENST00000382493.4_Silent_p.A140A|COCH_ENST00000216361.4_Silent_p.A289A O43405 COCH_HUMAN cochlin 289 VWFA 1. sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) GCATTGTGGCCAGAGAGTTTG 0.458000 10 59 0 0 0.000978 0 0 DHX34 9704 broad.mit.edu 37 19 47883131 47883131 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:47883131G>T ENST00000328771.4 + 14 3220 c.2871G>T c.(2869-2871)caG>caT p.Q957H NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 957 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) TGGACCGGCAGCTGGCGCACC 0.657000 8 28 0.000274275 0.000456617 0.004482 1 0 NUF2 83540 broad.mit.edu 37 1 163318761 163318761 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:163318761G>C ENST00000271452.3 + 13 1430 c.1151G>C c.(1150-1152)aGa>aCa p.R384T NUF2_ENST00000524800.1_Missense_Mutation_p.R337T|NUF2_ENST00000367900.3_Missense_Mutation_p.R384T NM_145697.2 NP_663735.2 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 384 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 all_hematologic(923;0.101) CAAGAAAAAAGAGGTGCTGTC 0.333000 8 43 0 0 0.004482 0 0 OR7A10 390892 broad.mit.edu 37 19 14951951 14951951 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:14951951C>A ENST00000248058.1 - 1 738 c.739G>T c.(739-741)Gtt>Ttt p.V247F NM_001005190.1 NP_001005190.1 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, member 10 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1) 19 Ovarian(108;0.203) AAGGAGACAACTGAGAGGTGA 0.463000 5 61 0.000602214 0.000993378 0.000602 1 0 MAP2 4133 broad.mit.edu 37 2 210560018 210560018 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:210560018G>T ENST00000360351.4 + 7 3630 c.3124G>T c.(3124-3126)Gtc>Ttc p.V1042F MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.V1038F|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1042 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GGATTTTGCTGTCCAGGGTCA 0.443000 12 47 5.16669e-11 1.12194e-10 0.000978 1 0 CPA1 1357 broad.mit.edu 37 7 130023322 130023322 + Missense_Mutation SNP T T C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr7:130023322T>C ENST00000011292.3 + 5 724 c.574T>C c.(574-576)Ttt>Ctt p.F192L CPA1_ENST00000484324.1_Missense_Mutation_p.F104L NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 192 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) TGGGGTCTGGTTTGCAAAGAA 0.637000 15 35 0 0 0.004990 0 0 ITGA1 3672 broad.mit.edu 37 5 52204760 52204760 + Silent SNP A A G TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr5:52204760A>G ENST00000282588.6 + 13 1946 c.1488A>G c.(1486-1488)acA>acG p.T496T NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 496 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) TTTTAACAACAACTGACATTG 0.388000 5 138 0 0 0.001168 0 0 PGS1 9489 broad.mit.edu 37 17 76399770 76399770 + Silent SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:76399770G>A ENST00000262764.6 + 7 1028 c.1002G>A c.(1000-1002)caG>caA p.Q334Q PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Silent_p.Q199Q NM_024419.3 NP_077733.3 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 334 phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) TTTTGACCCAGGAAGATGCAG 0.537000 28 76 0 0 0.007291 0 0 RUNDC3A 10900 broad.mit.edu 37 17 42386248 42386248 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:42386248C>T ENST00000426726.3 + 1 322 c.48C>T c.(46-48)tcC>tcT p.S16S RUNDC3A_ENST00000590941.1_Silent_p.S16S|AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000225441.7_Silent_p.S16S NM_001144825.1 NP_001138297.1 Q59EK9 RUN3A_HUMAN RUN domain containing 3A 16 Interaction with RAP2A (By similarity). small GTPase mediated signal transduction small GTPase regulator activity large_intestine(1)|lung(1)|ovary(2) 4 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) GGCTGTCCTCCAAGAAAGCGT 0.672000 6 27 0 0 0.004482 0 0 TESPA1 9840 broad.mit.edu 37 12 55356574 55356574 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:55356574G>T ENST00000524622.1 - 7 1355 c.694C>A c.(694-696)Cag>Aag p.Q232K TESPA1_ENST00000531122.1_Missense_Mutation_p.Q232K|TESPA1_ENST00000316577.8_Missense_Mutation_p.Q370K|TESPA1_ENST00000532804.1_Missense_Mutation_p.Q232K|TESPA1_ENST00000449076.1_Missense_Mutation_p.Q370K NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 370 GACATCCTCTGCTGTGTTTCC 0.527000 8 42 1.76689e-08 3.53772e-08 0.006214 1 0 DOCK3 1795 broad.mit.edu 37 3 51395454 51395454 + Silent SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:51395454T>A ENST00000266037.9 + 46 4853 c.4830T>A c.(4828-4830)ccT>ccA p.P1610P NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1610 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AAATGCGGCCTCTGCATAAGA 0.502000 19 80 0 0 0.001523 0 0 CNGA4 1262 broad.mit.edu 37 11 6265462 6265462 + Missense_Mutation SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:6265462G>C ENST00000379936.2 + 6 1666 c.1551G>C c.(1549-1551)gaG>gaC p.E517D NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 517 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCTGGCTGAGCTGGAGTCCA 0.602000 7 57 0 0 0.003080 0 0 IGLV2-33 28811 broad.mit.edu 37 22 22930869 22930869 + RNA SNP G G C TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr22:22930869G>C ENST00000390302.2 + 0 122 GGCCCAATCTGCCCTGACTCA 0.557000 21 174 0 0 0.002780 0 0 ANK2 287 broad.mit.edu 37 4 114120256 114120256 + Silent SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr4:114120256A>T ENST00000357077.4 + 4 428 c.375A>T c.(373-375)gcA>gcT p.A125A ANK2_ENST00000506722.1_Silent_p.A104A|ANK2_ENST00000394537.3_Silent_p.A125A|ANK2_ENST00000264366.6_Silent_p.A125A NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 125 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATATTAATGCACAGTCTCAGG 0.368000 6 32 0 0 0.001168 0 0 HTR3C 170572 broad.mit.edu 37 3 183778050 183778050 + Missense_Mutation SNP C C A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:183778050C>A ENST00000318351.1 + 9 1288 c.1254C>A c.(1252-1254)ttC>ttA p.F418L NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 418 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GGGTGCAGTTCAGCCACGCGA 0.587000 21 133 4.54149e-19 1.09166e-18 0.002299 1 0 USH2A 7399 broad.mit.edu 37 1 215813952 215813952 + Silent SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:215813952G>T ENST00000366943.2 - 68 15302 c.14916C>A c.(14914-14916)cgC>cgA p.R4972R USH2A_ENST00000307340.3_Silent_p.R4972R O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4972 Fibronectin type-III 35. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.R4972R(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CGCTGTACACGCGTCGCCCTC 0.552000 HNSCC(13;0.011) 15 48 8.60227e-14 1.9678e-13 0.004007 1 0 ATP1A2 477 broad.mit.edu 37 1 160093063 160093063 + Frame_Shift_Del DEL C C - TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:160093063delC ENST00000361216.3 + 4 327 c.238delC c.(238-240)cafs p.P82fs ATP1A2_ENST00000392233.3_Frame_Shift_Del_p.P82fs|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 82 Interaction with phosphoinositide-3 kinase (By similarity). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CGCCCTCACACCACCTCCCAC 0.632 22 162 --- --- --- --- OR2T4 127074 broad.mit.edu 37 1 248525120 248525120 + Frame_Shift_Del DEL C C - TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr1:248525120delC ENST00000366475.1 + 1 238 c.238delC c.(238-240)tgfs p.L80fs NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCTGATCCTTCTGATACACTG 0.468 63 279 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 2 4 --- --- --- --- H3F3AP4 440926 broad.mit.edu 37 2 175585078 175585078 + RNA DEL C C - TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:175585078delC ENST00000442996.1 + 0 217 ATTTCATTCTCAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- ITGA4 3676 broad.mit.edu 37 2 182347144 182347144 + Frame_Shift_Del DEL A A - TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr2:182347144delA ENST00000397033.2 + 8 1328 c.898delA c.(898-900)aafs p.K301fs NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 301 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AATGAAAGGTAAAAAGGTAAT 0.333 14 82 --- --- --- --- MUC4 4585 broad.mit.edu 37 3 195512373 195512374 + In_Frame_Ins INS - - GAT rs63118461 by1000genomes TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr3:195512373_195512374insGAT ENST00000463781.3 - 2 6536_6537 c.6077_6078insATC c.(6076-6078)tac>tATCac p.2026_2027insH MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 798 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.S2026_T2027insS(3) 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) TGTCACCAGTGGATGCTGAGGA 0.579 3 6 --- --- --- --- RPL10A 4736 broad.mit.edu 37 6 35438117 35438118 + Frame_Shift_Ins INS - - A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:35438117_35438118insA ENST00000322203.6 + 5 499_500 c.472_473insA c.(472-474)aatfs p.N158fs RPL10A_ENST00000467020.1_3'UTR NM_007104.4 NP_009035.3 P62906 RL10A_HUMAN ribosomal protein L10a 158 anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit RNA binding|structural constituent of ribosome breast(1)|large_intestine(2)|ovary(1) 4 AATCAAGTTCCAAATGAAGAAG 0.485 9 49 --- --- --- --- GLP1R 2740 broad.mit.edu 37 6 39041463 39041463 + Frame_Shift_Del DEL G G - TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr6:39041463delG ENST00000373256.4 + 7 784 c.741delG c.(739-741)gafs p.E247fs NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 247 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) TCTTGGTGGAGGGCGTGTACC 0.562 8 143 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22021573 22021574 + Splice_Site DEL GT GT - rs12229 TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr8:22021573_22021574delGT ENST00000318561.3 + 5 786 c.e5+1 SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000437090.2_3'UTR|SFTPC_ENST00000521315.1_3'UTR NM_001172357.1|NM_001172410.1|NM_003018.3 NP_001165828.1|NP_001165881.1|NP_003009.2 P11686 PSPC_HUMAN surfactant protein C respiratory gaseous exchange extracellular space autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CGGTGAGCAGGTGTGATCCCAG 0.708 10 27 --- --- --- --- OR8K3 219473 broad.mit.edu 37 11 56086481 56086481 + Frame_Shift_Del DEL A A - TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr11:56086481delA ENST00000312711.1 + 1 699 c.699delA c.(697-699)agfs p.R233fs NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) CTGCTGGCAGACAAAAGGCTT 0.433 8 79 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133253148 133253148 + Frame_Shift_Del DEL T T - TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr12:133253148delT ENST00000320574.5 - 9 936 c.893delA c.(892-894)tcfs p.Y298fs POLE_ENST00000535270.1_Frame_Shift_Del_p.Y271fs NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 298 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) ATCGATCATGTAGGAAATCAT 0.527 DNA polymerases (catalytic subunits) 8 53 --- --- --- --- TNFRSF19 55504 broad.mit.edu 37 13 24243135 24243136 + Frame_Shift_Ins INS - - T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr13:24243135_24243136insT ENST00000382263.3 + 9 1328_1329 c.1144_1145insT c.(1144-1146)ggtfs p.G382fs TNFRSF19_ENST00000382258.4_Frame_Shift_Ins_p.G382fs|TNFRSF19_ENST00000248484.4_Frame_Shift_Ins_p.G382fs|TNFRSF19_ENST00000403372.2_Frame_Shift_Ins_p.G250fs NM_001204458.1 NP_001191387.1 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, member 19 382 apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 22 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) TAACAACACACTGGTAGAATCA 0.460 8 55 --- --- --- --- NPAP1 23742 broad.mit.edu 37 15 24921209 24921209 + Frame_Shift_Del DEL C C - TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr15:24921209delC ENST00000329468.2 + 1 669 c.195delC c.(193-195)ttfs p.F65fs NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.F65F(1) CCAGCATCTTCGTCGCCCCTA 0.721 8 47 --- --- --- --- SMG8 55181 broad.mit.edu 37 17 57287753 57287754 + Frame_Shift_Ins INS - - A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr17:57287753_57287754insA ENST00000543872.2 + 2 605_606 c.341_342insA c.(340-342)gtcfs p.V114fs CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Frame_Shift_Ins_p.V114fs|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Frame_Shift_Ins_p.V114fs Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 114 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 GCAGCCGGGGGTTCAGTTCGGG 0.634 7 11 --- --- --- --- SERPINB7 8710 broad.mit.edu 37 18 61465837 61465837 + Splice_Site DEL G G - TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr18:61465837delG ENST00000398019.2 + 6 779 c.e6-1 SERPINB7_ENST00000336429.2_Splice_Site|SERPINB7_ENST00000546027.1_Splice_Site|SERPINB7_ENST00000540675.1_Splice_Site NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) TTTTTCAAAAGGCAAAATCAA 0.318 11 38 --- --- --- --- DAZAP1 26528 broad.mit.edu 37 19 1432542 1432542 + Frame_Shift_Del DEL C C - TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr19:1432542delC ENST00000336761.6 + 11 1106 c.901delC c.(901-903)cafs p.P301fs DAZAP1_ENST00000233078.4_Frame_Shift_Del_p.P301fs NM_170711.1 NP_733829.1 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 301 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCTCCACCGCCAGATCAGTT 0.652 34 148 --- --- --- --- PANK2 80025 broad.mit.edu 37 20 3893120 3893120 + Frame_Shift_Del DEL T T - TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:3893120delT ENST00000497424.1 + 4 689 c.378delT c.(376-378)acfs p.T126fs PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs|PANK2_ENST00000336066.3_3'UTR NM_024960.4|NM_153640.2 NP_079236.3|NP_705904.1 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 417 G -> A (in dbSNP:rs3737084). cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GAGGAGGAACTTTTTTTGGTC 0.343 8 225 --- --- --- --- FAM83D 81610 broad.mit.edu 37 20 37580381 37580382 + Frame_Shift_Ins INS - - T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chr20:37580381_37580382insT ENST00000217429.4 + 4 1107_1108 c.1066_1067insT c.(1066-1068)gggfs p.G356fs NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 326 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) GGAGCTCACCCTGGGCAACCTG 0.599 18 112 --- --- --- --- FRMPD4 9758 broad.mit.edu 37 X 12735777 12735777 + Frame_Shift_Del DEL C C - TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:12735777delC ENST00000380682.1 + 16 3338 c.2832delC c.(2830-2832)cafs p.H944fs NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 944 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 AAGGCTACCACCCCCTTGCAG 0.582 18 147 --- --- --- --- NHSL2 340527 broad.mit.edu 37 X 71358622 71358623 + Frame_Shift_Ins INS - - A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:71358622_71358623insA ENST00000373677.1 + 2 1388_1389 c.126_127insA c.(124-129)agatcafs p.S43fs NHSL2_ENST00000540800.1_Frame_Shift_Ins_p.S409fs|NHSL2_ENST00000535692.1_Frame_Shift_Ins_p.S43fs|NHSL2_ENST00000510661.1_Frame_Shift_Ins_p.S178fs F5H593 F5H593_HUMAN NHS-like 2 409 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) CCAGCCAGAGCAATCAAGTCAA 0.485 13 9 --- --- --- --- TMEM255A 55026 broad.mit.edu 37 X 119410798 119410799 + Frame_Shift_Ins INS - - T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 146118dc-87fd-4d20-a306-8de328606298 3d952ddb-a8cf-4d05-b81d-10293dcaf009 g.chrX:119410798_119410799insT ENST00000371369.4 - 7 842_843 c.616_617insA c.(616-618)tgtfs p.C206fs TMEM255A_ENST00000309720.5_Frame_Shift_Ins_p.C230fs|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Frame_Shift_Ins_p.C66fs NM_001104544.1 NP_001098014.1 transmembrane protein 255A CAGGCCAACAATGTTGAGGATG 0.505 39 64 --- --- --- ---