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 STRC 161497 broad.mit.edu 37 15 43893725 43893725 + Missense_Mutation SNP G G C rs147990592 TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr15:43893725G>C ENST00000450892.2 - 24 4647 c.4570C>G c.(4570-4572)Cgt>Ggt p.R1524G STRC_ENST00000541030.1_Missense_Mutation_p.R751G NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1524 sensory perception of sound cell surface p.R1524G(1) skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TGCTCAGGACGAAATCCCCGG 0.532000 5 73 0 0 0.001984 0 0 SOCS4 122809 broad.mit.edu 37 14 55510343 55510343 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr14:55510343C>T ENST00000395472.2 + 2 916 c.584C>T c.(583-585)cCc>cTc p.P195L SOCS4_ENST00000555846.1_Missense_Mutation_p.P195L|SOCS4_ENST00000339298.2_Missense_Mutation_p.P195L NM_080867.2|NM_199421.1 NP_543143.1|NP_955453.1 Q8WXH5 SOCS4_HUMAN suppressor of cytokine signaling 4 195 intracellular signal transduction|negative regulation of signal transduction|regulation of growth p.P195L(1) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 14 AATGTTCAGCCCTGTGTCATA 0.398000 24 96 0 0 0.003330 0 0 COL19A1 1310 broad.mit.edu 37 6 70637868 70637868 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr6:70637868G>A ENST00000322773.4 + 5 436 c.334G>A c.(334-336)Gcc>Acc p.A112T NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 112 TSP N-terminal. FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging p.A112T(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 ACGAAGAAACGCCAAAAAGGA 0.428000 35 63 0 0 0.002836 0 0 PITPNM3 83394 broad.mit.edu 37 17 6364731 6364731 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr17:6364731G>A ENST00000262483.8 - 18 2539 c.2452C>T c.(2452-2454)Cgg>Tgg p.R818W ACKR6_ENST00000421306.3_Missense_Mutation_p.R782W|ACKR6_ENST00000576664.1_5'UTR NM_031220.3 NP_112497.2 p.R818W(1) GCCTTCTGCCGCAGCGGGTCA 0.637000 25 53 0 0 0.005443 0 0 CACNA1G 8913 broad.mit.edu 37 17 48696099 48696099 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr17:48696099G>A ENST00000352832.5 + 31 5781 c.5409G>A c.(5407-5409)acG>acA p.T1803T CACNA1G_ENST00000429973.2_Silent_p.T1819T|CACNA1G_ENST00000360761.4_Silent_p.T1814T|CACNA1G_ENST00000359106.5_Silent_p.T1837T|CACNA1G_ENST00000510115.1_Silent_p.T1803T|CACNA1G_ENST00000358244.5_Silent_p.T1803T|CACNA1G_ENST00000502264.1_Silent_p.T1814T|CACNA1G_ENST00000514717.1_Silent_p.T1780T|CACNA1G_ENST00000507336.1_Silent_p.T1826T|CACNA1G_ENST00000514181.1_Silent_p.T1812T|CACNA1G_ENST00000354983.4_Silent_p.T1803T|CACNA1G_ENST00000442258.2_Silent_p.T1796T|CACNA1G_ENST00000510366.1_Silent_p.T1785T|CACNA1G_ENST00000505165.1_Silent_p.T1837T|CACNA1G_ENST00000507896.1_Silent_p.T1826T|CACNA1G_ENST00000507510.2_Silent_p.T1837T|CACNA1G_ENST00000503485.1_Silent_p.T1803T|CACNA1G_ENST00000515765.1_Silent_p.T1826T|CACNA1G_ENST00000507609.1_Silent_p.T1830T|CACNA1G_ENST00000512389.1_Silent_p.T1826T|CACNA1G_ENST00000514079.1_Silent_p.T1844T|CACNA1G_ENST00000513689.2_Silent_p.T1792T|CACNA1G_ENST00000515165.1_Silent_p.T1837T|CACNA1G_ENST00000513964.1_Silent_p.T1792T|CACNA1G_ENST00000515411.1_Silent_p.T1819T NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1837 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity p.T1837T(2)|p.T1803T(1) breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TCGTGCTGACGGCCCAGTTCG 0.592000 8 46 0 0 0.004482 0 0 CHRD 8646 broad.mit.edu 37 3 184103862 184103862 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr3:184103862C>T ENST00000204604.1 + 15 2093 c.1847C>T c.(1846-1848)cCg>cTg p.P616L CHRD_ENST00000348986.3_Missense_Mutation_p.P576L|CHRD_ENST00000545352.1_Missense_Mutation_p.P246L|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.P616L NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 616 CHRD 4. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding p.P329L(1)|p.P616L(1) NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GACCTGGAGCCGGAACTGCTG 0.592000 5 94 0 0 0.001168 0 0 MKI67 4288 broad.mit.edu 37 10 129905598 129905598 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr10:129905598G>A ENST00000368654.3 - 13 4881 c.4506C>T c.(4504-4506)gaC>gaT p.D1502D MKI67_ENST00000368653.3_Silent_p.D1142D NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1502 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding p.D1502D(1) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTGTTGGTGTGTCCACTGGGT 0.498000 105 268 0 0 0.003610 0 0 F5 2153 broad.mit.edu 37 1 169510388 169510388 + Missense_Mutation SNP G G T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:169510388G>T ENST00000367796.3 - 13 4156 c.3955C>A c.(3955-3957)Cca>Aca p.P1319T F5_ENST00000367797.3_Missense_Mutation_p.P1314T P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1314 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity p.P1314T(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CCGAGGGCTGGGGAAAGGTTT 0.493000 125 632 2.51135e-46 7.86163e-46 0.003610 1 0 STRC 161497 broad.mit.edu 37 15 43893702 43893702 + Silent SNP A A G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr15:43893702A>G ENST00000450892.2 - 24 4670 c.4593T>C c.(4591-4593)ctT>ctC p.L1531L STRC_ENST00000541030.1_Silent_p.L758L NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1531 sensory perception of sound cell surface p.L1531L(1) skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) AGAGCCTACCAAGCTGCAGGA 0.547000 11 82 0 0 0.001855 0 0 TAF1 6872 broad.mit.edu 37 X 70613945 70613945 + Missense_Mutation SNP A A G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chrX:70613945A>G ENST00000449580.1 + 22 3304 c.3253A>G c.(3253-3255)Act>Gct p.T1085A TAF1_ENST00000423759.1_Missense_Mutation_p.T1106A|TAF1_ENST00000276072.3_Missense_Mutation_p.T1106A|TAF1_ENST00000373790.4_Missense_Mutation_p.T1085A P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1085 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity p.T1106A(1)|p.T1085A(1) breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) AGTCTTATCAACTGACACAGA 0.383000 4 44 0 0 0.000248 0 0 UPF2 26019 broad.mit.edu 37 10 11985140 11985140 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr10:11985140C>T ENST00000356352.2 - 16 3675 c.3202G>A c.(3202-3204)Gga>Aga p.G1068R UPF2_ENST00000357604.5_Missense_Mutation_p.G1068R|UPF2_ENST00000397053.2_Missense_Mutation_p.G1068R Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 1068 Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding p.G1068R(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) TCTTCTTCTCCCTCATCATCA 0.328000 17 113 0 0 0.006122 0 0 LONP1 9361 broad.mit.edu 37 19 5699098 5699098 + Missense_Mutation SNP C C A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr19:5699098C>A ENST00000360614.3 - 10 1782 c.1625G>T c.(1624-1626)cGa>cTa p.R542L LONP1_ENST00000540670.2_Missense_Mutation_p.R346L|LONP1_ENST00000593119.1_Missense_Mutation_p.R478L|LONP1_ENST00000590729.1_Missense_Mutation_p.R412L|LONP1_ENST00000585374.1_Missense_Mutation_p.R428L NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 542 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding p.R542L(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GAAGTACTCTCGGTTCAGGGC 0.652000 12 39 1.5842e-08 4.7526e-08 0.001855 1 0 TPTE2P6 374491 broad.mit.edu 37 13 25169954 25169954 + RNA SNP T T A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr13:25169954T>A ENST00000453498.1 + 0 1201 TGACAATTGTTCATTTTTCTT 0.294000 8 9 0 0 0.000443 0 0 ZNF286A 57335 broad.mit.edu 37 17 15620341 15620341 + Missense_Mutation SNP G G C TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr17:15620341G>C ENST00000464847.2 + 5 1856 c.1303G>C c.(1303-1305)Gag>Cag p.E435Q ZNF286A_ENST00000593105.1_Missense_Mutation_p.E425Q|ZNF286A_ENST00000413242.2_Missense_Mutation_p.E435Q|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.E435Q|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000583566.1_Missense_Mutation_p.E435Q Q9HBT8 Z286A_HUMAN zinc finger protein 286A 435 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E435Q(1) 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) TCACACTGGAGAGAAACCCTA 0.388000 13 33 0 0 0.004990 0 0 BCAS1 8537 broad.mit.edu 37 20 52609134 52609134 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr20:52609134C>T ENST00000371440.3 - 7 1316 c.979G>A c.(979-981)Gag>Aag p.E327K BCAS1_ENST00000434986.2_Missense_Mutation_p.E40K|BCAS1_ENST00000395961.3_Intron|BCAS1_ENST00000371435.2_Intron O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 309 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) GCCTGGATCTCGGATGTCTTC 0.448000 18 161 0 0 0.004990 0 0 MYH8 4626 broad.mit.edu 37 17 10322033 10322033 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr17:10322033C>T ENST00000403437.2 - 5 534 c.440G>A c.(439-441)gGc>gAc p.G147D CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 147 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle p.G147D(1) NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GCGCTTTTTGCCTCTGTAGGC 0.542000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 4 141 0 0 0.000248 0 0 GALNT7 51809 broad.mit.edu 37 4 174213396 174213396 + Missense_Mutation SNP T T C TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr4:174213396T>C ENST00000265000.4 + 3 808 c.725T>C c.(724-726)aTt>aCt p.I242T GALNT7_ENST00000512285.1_Missense_Mutation_p.I242T|GALNT7_ENST00000502407.1_3'UTR NM_017423.2 NP_059119.2 Q86SF2 GALT7_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) 242 Catalytic subdomain A. protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.I242T(1) central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9) 19 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) TTAGCAGAAATTGTGTTAATT 0.343000 15 36 0 0 0.003163 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37499438 37499438 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr22:37499438G>A ENST00000381792.2 - 2 160 c.20C>T c.(19-21)cCc>cTc p.P7L TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P16L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P7L|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P7L|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.P16L Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 16 angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity p.P16L(1) breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 AGCCACCTGGGGGGCCTCGGC 0.657000 27 93 0 0 0.001271 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74625694 74625694 + Silent SNP T T A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr17:74625694T>A ENST00000156626.7 - 2 430 c.231A>T c.(229-231)gcA>gcT p.A77A ST6GALNAC1_ENST00000590878.1_5'UTR NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 77 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity p.A77A(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 GCACTGGCTCTGCATAGATGG 0.572000 7 217 0 0 0.001984 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 48 0 0 0.004482 0 0 OSMR 9180 broad.mit.edu 37 5 38885486 38885486 + Missense_Mutation SNP A A G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr5:38885486A>G ENST00000274276.3 + 6 1141 c.739A>G c.(739-741)Acc>Gcc p.T247A OSMR_ENST00000502536.1_Missense_Mutation_p.T247A NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 247 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity p.T247A(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TTCTTGTGAAACCGAGGACTT 0.428000 33 68 0 0 0.002445 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332570 22332570 + RNA SNP T T C TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr15:22332570T>C ENST00000558896.1 + 0 377 CCCATGCTCATCTGCTCCAAT 0.398000 6 298 0 0 0.001168 0 0 REN 5972 broad.mit.edu 37 1 204128652 204128652 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:204128652G>A ENST00000367195.2 - 5 607 c.564C>T c.(562-564)gcC>gcT p.A188A REN_ENST00000272190.8_Silent_p.A188A P00797 RENI_HUMAN renin 188 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity p.A188A(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1) 19 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) CATCAAACTCGGCCAGCATGA 0.557000 10 63 0 0 0.000443 0 0 OTUD5 55593 broad.mit.edu 37 X 48791832 48791832 + Missense_Mutation SNP C C A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chrX:48791832C>A ENST00000156084.4 - 5 1039 c.979G>T c.(979-981)Gtt>Ttt p.V327F OTUD5_ENST00000428668.2_Missense_Mutation_p.V105F|OTUD5_ENST00000376488.3_Missense_Mutation_p.V322F|OTUD5_ENST00000396743.3_Missense_Mutation_p.V322F|OTUD5_ENST00000484499.1_5'UTR NM_017602.3 NP_060072.1 Q96G74 OTUD5_HUMAN OTU domain containing 5 327 OTU. negative regulation of type I interferon production cysteine-type peptidase activity p.V298F(1)|p.V327F(1) endometrium(2)|large_intestine(3)|lung(6)|pancreas(2) 13 TGGTAGCTAACACGAATGGGT 0.512000 5 85 0.000602214 0.00171721 0.000602 1 0 BCLAF1 9774 broad.mit.edu 37 6 136599486 136599486 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr6:136599486G>A ENST00000531224.1 - 4 785 c.533C>T c.(532-534)cCg>cTg p.P178L BCLAF1_ENST00000530767.1_Missense_Mutation_p.P178L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P176L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P176L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P178L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P176L NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 178 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding p.P178L(1) haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ACTTTTCAACGGACTCTCTTC 0.418000 30 257 0 0 0.001512 0 0 BCL9L 283149 broad.mit.edu 37 11 118770825 118770825 + Silent SNP T T C TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr11:118770825T>C ENST00000334801.3 - 7 4171 c.3207A>G c.(3205-3207)ctA>ctG p.L1069L BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1069 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity p.L1069L(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) AAGTGAATGGTAGGCTGGGGT 0.642000 25 76 0 0 0.001061 0 0 AKAP6 9472 broad.mit.edu 37 14 33292074 33292074 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr14:33292074G>A ENST00000280979.4 + 13 5225 c.5055G>A c.(5053-5055)gcG>gcA p.A1685A AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1685 Ser-rich. protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding p.A1685A(1) NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AAGACTCAGCGGCATCTCTAA 0.433000 27 92 0 0 0.001786 0 0 ADCY10 55811 broad.mit.edu 37 1 167798655 167798655 + Missense_Mutation SNP C C G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:167798655C>G ENST00000367848.1 - 26 3821 c.3324G>C c.(3322-3324)aaG>aaC p.K1108N ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.K1200N|ADCY10_ENST00000545172.1_Missense_Mutation_p.K1047N Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1200 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding p.K1200N(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 GTGCCAGCCTCTTCTTCCTAT 0.453000 13 71 0 0 0.002450 0 0 PTPRG 5793 broad.mit.edu 37 3 62254711 62254711 + Splice_Site SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr3:62254711G>A ENST00000474889.1 + 20 3253 c.2874_splice c.e20-1 p.R959_splice PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG_ENST00000295874.10_Splice_Site_p.R930_splice|PTPRG-AS1_ENST00000475371.1_RNA NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 959 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity p.R959Q(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) TTTCTGCAGCGAAAATGTGAT 0.363000 5 50 0 0 0.001984 0 0 GANAB 23193 broad.mit.edu 37 11 62397858 62397858 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr11:62397858G>A ENST00000346178.4 - 13 1587 c.1572C>T c.(1570-1572)tgC>tgT p.C524C GANAB_ENST00000356638.3_Silent_p.C502C|GANAB_ENST00000540933.1_Silent_p.C405C|GANAB_ENST00000534779.1_Silent_p.C410C NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 502 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding p.C502C(1) central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 TACCTGGCCAGCACCAGCCCT 0.572000 3 43 0 0 0.004672 0 0 DHX30 22907 broad.mit.edu 37 3 47859533 47859533 + Missense_Mutation SNP G G A rs138729543 TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr3:47859533G>A ENST00000445061.1 + 4 457 c.50G>A c.(49-51)cGt>cAt p.R17H DHX30_ENST00000476446.1_3'UTR|DHX30_ENST00000446256.2_5'UTR|DHX30_ENST00000348968.4_5'UTR NM_138615.2 NP_619520.1 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 17 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding p.R17H(1) endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) cacaggcagcgtcagtgcaaa 0.607000 27 87 0 0 0.002445 0 0 GARS 2617 broad.mit.edu 37 7 30639610 30639610 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr7:30639610G>A ENST00000389266.3 + 3 613 c.372G>A c.(370-372)atG>atA p.M124I NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 124 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity p.M124I(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) GAGCAAAAATGGAAGATACCC 0.408000 28 177 0 0 0.002445 0 0 P2RY1 5028 broad.mit.edu 37 3 152553609 152553609 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr3:152553609C>T ENST00000305097.3 + 1 874 c.38C>T c.(37-39)aCg>aTg p.T13M NM_002563.3 NP_002554.1 P47900 P2RY1_HUMAN purinergic receptor P2Y, G-protein coupled, 1 13 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.T13M(1) breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) CCCAACGGGACGGACGCTGCC 0.692000 4 32 0 0 0.000248 0 0 BLCAP 10904 broad.mit.edu 37 20 36147457 36147457 + Silent SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr20:36147457C>T ENST00000414542.2 - 3 567 c.120G>A c.(118-120)cgG>cgA p.R40R BLCAP_ENST00000373537.2_Silent_p.R40R|BLCAP_ENST00000397134.1_Silent_p.R40R|BLCAP_ENST00000467603.1_Intron|BLCAP_ENST00000397135.1_Silent_p.R40R|BLCAP_ENST00000397137.1_Silent_p.R40R|BLCAP_ENST00000397131.1_Silent_p.R40R NM_001167820.1|NM_001167823.1 NP_001161292.1|NP_001161295.1 P62952 BLCAP_HUMAN bladder cancer associated protein 40 apoptosis|cell cycle integral to membrane p.R40R(1) breast(1)|large_intestine(1)|lung(2)|stomach(1) 5 Myeloproliferative disorder(115;0.00878) TGCAAGGCTTCCGTTCCAGGA 0.567000 5 28 0 0 0.000602 0 0 PRG4 10216 broad.mit.edu 37 1 186276100 186276100 + Missense_Mutation SNP A A C TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:186276100A>C ENST00000445192.2 + 7 1294 c.1249A>C c.(1249-1251)Acc>Ccc p.T417P PRG4_ENST00000367486.3_Missense_Mutation_p.T374P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T324P|PRG4_ENST00000367483.4_Missense_Mutation_p.T376P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 417 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T417P(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACCACCAAGGAGCC 0.652000 5 116 0 0 0.000673 0 0 RFX3 5991 broad.mit.edu 37 9 3247924 3247924 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr9:3247924G>A ENST00000302303.1 - 16 2387 c.2076C>T c.(2074-2076)gtC>gtT p.V692V RFX3_ENST00000382004.3_Intron|RFX3_ENST00000358730.2_Silent_p.V692V NM_002919.2 NP_002910.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 0 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding p.V692V(1) central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) ctctgaggctgacttggttag 0.373000 9 102 0 0 0.000443 0 0 MKRN1 23608 broad.mit.edu 37 7 140154416 140154416 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr7:140154416C>T ENST00000255977.2 - 8 1574 c.1350G>A c.(1348-1350)atG>atA p.M450I MKRN1_ENST00000474576.1_Missense_Mutation_p.M386I|MKRN1_ENST00000437223.2_Missense_Mutation_p.M184I NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 450 ligase activity|nucleic acid binding|protein binding|zinc ion binding p.M450I(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) CAGCCAAAAGCATAAGCAACA 0.463000 19 77 0 0 0.001216 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140798770 140798770 + Silent SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr5:140798770C>T ENST00000398594.2 + 1 1344 c.1344C>T c.(1342-1344)aaC>aaT p.N448N PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018927.3 NP_061750.1 p.N448N(1) central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAATGACAACGCGCCGGTTT 0.572000 14 28 0 0 0.001855 0 0 ZNF506 440515 broad.mit.edu 37 19 19905881 19905881 + Missense_Mutation SNP A A G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr19:19905881A>G ENST00000443905.2 - 4 962 c.815T>C c.(814-816)cTt>cCt p.L272P CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000540806.2_Missense_Mutation_p.L272P|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.L240P|ZNF506_ENST00000587461.1_Intron Q5JVG8 ZN506_HUMAN zinc finger protein 506 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding p.L272P(1) breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1) 14 ATGTGAAAAAAGGGTTGCAGG 0.373000 3 56 0 0 0.000248 0 0 PSMA3 5684 broad.mit.edu 37 14 58727695 58727695 + Missense_Mutation SNP A A G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr14:58727695A>G ENST00000216455.4 + 6 524 c.434A>G c.(433-435)gAc>gGc p.D145G PSMA3_ENST00000412908.2_Missense_Mutation_p.D138G|PSMA3_ENST00000557508.1_Missense_Mutation_p.D70G NM_002788.3|NM_152132.2 NP_002779.1|NP_687033.1 P25788 PSA3_HUMAN proteasome (prosome, macropain) subunit, alpha type, 3 145 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|interspecies interaction between organisms|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 core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity p.D145G(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2) 12 AGTGTGAATGACGGTGCGCAA 0.313000 3 99 0 0 0.004672 0 0 LOC220729 220729 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 4 92 0 0 0.000602 0 0 CNOT4 4850 broad.mit.edu 37 7 135048808 135048808 + Missense_Mutation SNP A A C TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr7:135048808A>C ENST00000541284.1 - 11 1968 c.1638T>G c.(1636-1638)agT>agG p.S546R CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000451834.1_Missense_Mutation_p.S543R NM_001190849.1|NM_001190850.1 NP_001177778.1|NP_001177779.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 226 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding p.S546R(1) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 TCTCTACAGAACTGCTGTTGT 0.383000 12 270 0 0 0.001855 0 0 FAM83C 128876 broad.mit.edu 37 20 33876276 33876276 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr20:33876276G>A ENST00000374408.3 - 3 890 c.794C>T c.(793-795)gCg>gTg p.A265V NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 265 p.A265V(1) central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GTAACTGCCCGCCACCACTTG 0.637000 19 41 0 0 0.001882 0 0 NFKB1 4790 broad.mit.edu 37 4 103498166 103498166 + Missense_Mutation SNP G G C TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr4:103498166G>C ENST00000226574.4 + 7 1008 c.541G>C c.(541-543)Gca>Cca p.A181P NFKB1_ENST00000394820.4_Missense_Mutation_p.A180P|NFKB1_ENST00000510638.1_3'UTR|NFKB1_ENST00000505458.1_Missense_Mutation_p.A180P NM_001165412.1|NM_003998.3 NP_001158884.1|NP_003989.2 P19838 NFKB1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 180 RHD. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.A181P(1) biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) CTATTTGCAAGCAGAAGGTGG 0.483000 29 72 0 0 0.001786 0 0 GPX7 2882 broad.mit.edu 37 1 53072531 53072531 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:53072531G>A ENST00000361314.4 + 2 352 c.314G>A c.(313-315)cGc>cAc p.R105H GPX7_ENST00000459779.1_3'UTR NM_015696.4 NP_056511.2 Q96SL4 GPX7_HUMAN glutathione peroxidase 7 105 response to oxidative stress extracellular region glutathione peroxidase activity p.R105H(1)|p.R105L(1) breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1) 7 Glutathione(DB00143) AGCTTTGCCCGCCGCACCTAC 0.572000 7 102 0 0 0.001984 0 0 GPC4 2239 broad.mit.edu 37 X 132439841 132439841 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chrX:132439841C>T ENST00000370828.3 - 6 1638 c.1114G>A c.(1114-1116)Gaa>Aaa p.E372K GPC4_ENST00000535467.1_Missense_Mutation_p.E302K NM_001448.2 NP_001439.2 O75487 GPC4_HUMAN glypican 4 372 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.E372K(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) GTTGGGCGTTCCTCGGGGTGA 0.552000 29 301 0 0 0.001512 0 0 NAV1 89796 broad.mit.edu 37 1 201751334 201751334 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:201751334G>A ENST00000367296.4 + 6 2114 c.1694G>A c.(1693-1695)gGt>gAt p.G565D NAV1_ENST00000367302.1_Missense_Mutation_p.G578D|NAV1_ENST00000295624.6_Missense_Mutation_p.G565D|NAV1_ENST00000367297.4_Missense_Mutation_p.G565D|NAV1_ENST00000367300.3_Missense_Mutation_p.G565D|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.G174D NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 565 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding p.G565D(1) breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 ACAGACAAGGGTAAGCTTGCA 0.527000 28 159 0 0 0.001786 0 0 GTF2E2 2961 broad.mit.edu 37 8 30464636 30464636 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr8:30464636C>T ENST00000355904.4 - 6 863 c.581G>A c.(580-582)cGt>cAt p.R194H GTF2E2_ENST00000522833.1_5'UTR NM_002095.4 NP_002086.1 P29084 T2EB_HUMAN general transcription factor IIE, polypeptide 2, beta 34kDa 194 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding p.R194H(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) CTTATCGGGACGATTTACAAA 0.303000 23 91 0 0 0.004656 0 0 DUOX1 53905 broad.mit.edu 37 15 45424180 45424180 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr15:45424180G>A ENST00000321429.4 + 3 423 c.16G>A c.(16-18)Gct>Act p.A6T DUOX1_ENST00000389037.3_Missense_Mutation_p.A6T NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 6 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity p.A6T(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CTTCTGCCTGGCTCTAGCATG 0.517000 10 254 0 0 0.000673 0 0 VPS13B 157680 broad.mit.edu 37 8 100866351 100866351 + Silent SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr8:100866351C>T ENST00000358544.2 + 56 10920 c.10809C>T c.(10807-10809)ctC>ctT p.L3603L VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L3578L NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3603 protein transport p.L3578L(1)|p.L3603L(1) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ACGCTTCCCTCAAGCTGTACA 0.547000 63 51 0 0 0.003610 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 47 0 0 0.004482 0 0 CTAGE1 64693 broad.mit.edu 37 18 19996170 19996170 + Silent SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr18:19996170C>T ENST00000391403.2 - 1 1708 c.1605G>A c.(1603-1605)ccG>ccA p.P535P NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 535 integral to membrane p.P535P(2) cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) TCTGATGGTCCGGAGGATTCC 0.552000 4 115 0 0 0.000248 0 0 ZNF208 7757 broad.mit.edu 37 19 22154452 22154452 + Silent SNP A A G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr19:22154452A>G ENST00000397126.4 - 4 3532 c.3384T>C c.(3382-3384)ctT>ctC p.L1128L ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.L1000L(2)|p.L1128L(1) 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) TATGTTTAGTAAGGATTGAGA 0.373000 3 107 0 0 0.004672 0 0 LTBP2 4053 broad.mit.edu 37 14 75017917 75017917 + Silent SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr14:75017917C>T ENST00000261978.4 - 7 1922 c.1536G>A c.(1534-1536)ccG>ccA p.P512P LTBP2_ENST00000557425.1_5'UTR|LTBP2_ENST00000556690.1_Silent_p.P512P NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 512 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding p.P512P(1) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GCAGCCAGGGCGGGGGTCTGG 0.701000 9 22 0 0 0.004482 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657788 72657788 + RNA SNP A A G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr7:72657788A>G ENST00000425256.1 - 0 2123 NR_002164.1 cagttttgctaggaacacccg 0.483000 60 306 0 0 0.003610 0 0 KLHL9 55958 broad.mit.edu 37 9 21334730 21334730 + Silent SNP A A G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr9:21334730A>G ENST00000359039.4 - 1 649 c.129T>C c.(127-129)ctT>ctC p.L43L KLHL9_ENST00000537938.1_Intron Q9P2J3 KLHL9_HUMAN kelch-like family member 9 43 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody p.L43L(1) endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2) 32 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) CTTCTATTCTAAGCTGATCAA 0.468000 42 48 0 0 0.001951 0 0 ERAP2 64167 broad.mit.edu 37 5 96253168 96253168 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr5:96253168G>A ENST00000437043.3 + 19 3453 c.2742G>A c.(2740-2742)gtG>gtA p.V914V ERAP2_ENST00000379904.4_Silent_p.V869V|CTD-2260A17.2_ENST00000501338.1_Intron NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 914 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.V914V(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) TTTTACAGGTGAAACTATTTT 0.398000 25 48 0 0 0.003954 0 0 DNAH8 1769 broad.mit.edu 37 6 38919259 38919259 + Silent SNP C C A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr6:38919259C>A ENST00000359357.3 + 80 12017 c.11763C>A c.(11761-11763)acC>acA p.T3921T DNAH8_ENST00000449981.2_Silent_p.T4138T|DNAH8_ENST00000441566.1_Silent_p.T3885T|RP1-207H1.3_ENST00000416948.1_RNA dynein, axonemal, heavy chain 8 p.T3921T(2) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CTGACCCCACCAATCAAATTG 0.413000 18 492 2.94398e-08 8.7409e-08 0.000958 1 0 CAPN3 825 broad.mit.edu 37 15 42695961 42695961 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr15:42695961G>A ENST00000397163.3 + 14 1987 c.1768G>A c.(1768-1770)Gtg>Atg p.V590M RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000397200.4_Missense_Mutation_p.V78M|CAPN3_ENST00000357568.3_Missense_Mutation_p.V590M|CAPN3_ENST00000356316.3_Missense_Mutation_p.V503M|CAPN3_ENST00000349748.3_Missense_Mutation_p.V542M|CAPN3_ENST00000318023.7_Missense_Mutation_p.V590M NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 590 Linker. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity p.V590M(2)|p.V503M(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) TACCATCTCCGTGGATCGGCC 0.557000 8 155 0 0 0.003080 0 0 AGBL5 60509 broad.mit.edu 37 2 27281274 27281274 + Nonsense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr2:27281274C>T ENST00000360131.4 + 10 1837 c.1678C>T c.(1678-1680)Cga>Tga p.R560* AGBL5_ENST00000323064.8_Nonsense_Mutation_p.R560* NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 560 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding p.R560*(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACAGGTGGGACGAGCTATGGC 0.582000 16 33 0 0 0.006122 0 0 SNRPN 6638 broad.mit.edu 37 15 25221477 25221477 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr15:25221477C>T ENST00000444203.2 + 4 1232 c.193C>T c.(193-195)Cgt>Tgt p.R65C SNRPN_ENST00000346403.6_Missense_Mutation_p.R61C|SNRPN_ENST00000400097.1_Missense_Mutation_p.R61C|SNRPN_ENST00000577565.1_Missense_Mutation_p.R61C|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400098.1_Missense_Mutation_p.R61C|SNRPN_ENST00000400100.1_Missense_Mutation_p.R61C|SNRPN_ENST00000390687.4_Missense_Mutation_p.R61C|SNRPN_ENST00000554227.2_Missense_Mutation_p.R65C P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 61 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding p.R61C(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) GCAACCAGAGCGTGAAGAAAA 0.428000 Prader-Willi syndrome 22 91 0 0 0.003954 0 0 MYH6 4624 broad.mit.edu 37 14 23870001 23870001 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr14:23870001G>A ENST00000405093.3 - 13 1397 c.1327C>T c.(1327-1329)Cgc>Tgc p.R443C MYH6_ENST00000356287.3_Missense_Mutation_p.R443C NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 443 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.R443C(1) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GCGTTGATGCGCGTCACCATC 0.577000 14 101 0 0 0.004007 0 0 KLK3 354 broad.mit.edu 37 19 51361824 51361824 + Silent SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr19:51361824C>T ENST00000360617.3 + 4 603 c.603C>T c.(601-603)cgC>cgT p.R201R KLK3_ENST00000326003.2_Silent_p.R201R|KLK3_ENST00000595952.1_Silent_p.R158R|KLK3_ENST00000597483.1_Silent_p.R158R|KLK3_ENST00000593997.1_Silent_p.R201R P07288 KLK3_HUMAN kallikrein-related peptidase 3 201 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity p.R201R(2) breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) GTGCTGGACGCTGGACAGGGG 0.527000 48 39 0 0 0.003610 0 0 DUSP27 92235 broad.mit.edu 37 1 167095768 167095768 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:167095768G>A ENST00000361200.2 + 6 1566 c.1400G>A c.(1399-1401)cGc>cAc p.R467H DUSP27_ENST00000443333.1_Missense_Mutation_p.R467H|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R467H Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 467 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity p.R467H(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 AGGAGGCGCCGCGCAGACTCG 0.652000 4 26 0 0 0.000248 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) 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) agcagcaacaacagcagcagc 0.567000 3 42 0 0 0.000248 0 0 RBM27 54439 broad.mit.edu 37 5 145649137 145649137 + Missense_Mutation SNP C C A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr5:145649137C>A ENST00000265271.5 + 17 2847 c.2681C>A c.(2680-2682)aCa>aAa p.T894K RBM27_ENST00000506502.1_Missense_Mutation_p.T839K NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 894 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding p.T894K(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAAGTGAAGACAAAAACGGAG 0.353000 23 14 5.45024e-15 1.66986e-14 0.003330 1 0 PIK3C2B 5287 broad.mit.edu 37 1 204419113 204419113 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:204419113G>A ENST00000367187.3 - 14 2655 c.2099C>T c.(2098-2100)cCt>cTt p.P700L PIK3C2B_ENST00000424712.2_Missense_Mutation_p.P700L NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 700 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding p.P700L(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TGTCTCCCGAGGCAGCCGGTT 0.617000 7 6 0 0 0.001984 0 0 CRABP2 1382 broad.mit.edu 37 1 156670345 156670345 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:156670345C>T ENST00000368222.3 - 3 509 c.355G>A c.(355-357)Gaa>Aaa p.E119K CRABP2_ENST00000368221.1_Missense_Mutation_p.E119K NM_001199723.1|NM_001878.3 NP_001186652.1|NP_001869.1 P29373 RABP2_HUMAN cellular retinoic acid binding protein 2 119 epidermis development|regulation of transcription, DNA-dependent|signal transduction cytoplasm|nucleus retinal binding|retinol binding|transporter activity p.E119K(1) endometrium(2)|lung(3)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Alitretinoin(DB00523) AGGATCAGTTCCCCATCGTTG 0.537000 21 108 0 0 0.003330 0 0 LYN 4067 broad.mit.edu 37 8 56910924 56910924 + Missense_Mutation SNP A A G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr8:56910924A>G ENST00000520220.2 + 11 1281 c.1007A>G c.(1006-1008)tAc>tGc p.Y336C LYN_ENST00000519728.1_Missense_Mutation_p.Y357C|LYN_ENST00000420292.1_3'UTR NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 357 Protein kinase. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity p.Y357C(1) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) GGAATGGCATACATCGAGCGG 0.458000 4 64 0 0 0.000248 0 0 CA12 771 broad.mit.edu 37 15 63618490 63618490 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr15:63618490G>A ENST00000178638.3 - 11 1499 c.1059C>T c.(1057-1059)caC>caT p.H353H CA12_ENST00000422263.2_Silent_p.H282H|CA12_ENST00000344366.3_Silent_p.H342H|CA12_ENST00000560666.1_5'UTR NM_001218.3 NP_001209.1 O43570 CAH12_HUMAN carbonic anhydrase XII 353 one-carbon metabolic process integral to membrane carbonate dehydratase activity|zinc ion binding p.H353H(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 16 Acetazolamide(DB00819) GACCTCAAGCGTGGGCCTCAG 0.512000 24 94 0 0 0.001061 0 0 CLASP1 23332 broad.mit.edu 37 2 122139812 122139812 + Missense_Mutation SNP T T C TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr2:122139812T>C ENST00000263710.4 - 33 3852 c.3463A>G c.(3463-3465)Aag>Gag p.K1155E CLASP1_ENST00000545861.1_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000541859.1_Intron NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 1155 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding p.K1155E(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) CTGAGAGCCTTGTGGGAGGGA 0.532000 4 11 0 0 0.000248 0 0 POF1B 79983 broad.mit.edu 37 X 84634283 84634283 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chrX:84634283C>T ENST00000262753.4 - 2 322 c.177G>A c.(175-177)atG>atA p.M59I POF1B_ENST00000373145.3_Missense_Mutation_p.M59I NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 59 actin binding p.M59I(1) central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 CCACCTTGTTCATGGGCCCAC 0.532000 4 47 0 0 0.000248 0 0 HSD3B1 3283 broad.mit.edu 37 1 120056843 120056843 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:120056843C>T ENST00000235547.6 + 4 842 c.703C>T c.(703-705)Cac>Tac p.H235Y HSD3B1_ENST00000369413.3_Missense_Mutation_p.H233Y|HSD3B1_ENST00000528909.1_Missense_Mutation_p.H233Y NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 233 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity p.H233Y(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) GGCCTGGGCCCACATTCTGGC 0.517000 32 53 0 0 0.003271 0 0 OR4C16 219428 broad.mit.edu 37 11 55340039 55340039 + Missense_Mutation SNP G G T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr11:55340039G>T ENST00000314634.3 + 1 436 c.436G>T c.(436-438)Gcc>Tcc p.A146S NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A146S(1) 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) GATGGCTGTGGCCTGGGTGGG 0.498000 66 200 6.2918e-36 1.94843e-35 0.003610 1 0 GPR123 84435 broad.mit.edu 37 10 134942303 134942303 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr10:134942303G>A ENST00000607359.1 + 16 3128 c.3128G>A c.(3127-3129)cGc>cAc p.R1043H GPR123_ENST00000392606.2_Missense_Mutation_p.R227H|GPR123_ENST00000392607.3_Missense_Mutation_p.R324H Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 324 integral to membrane|plasma membrane G-protein coupled receptor activity p.R324H(1)|p.R1043H(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) TGCCCGCCCCGCAAGGACGCC 0.726000 7 27 0 0 0.001984 0 0 FLT1 2321 broad.mit.edu 37 13 28964125 28964125 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr13:28964125G>A ENST00000282397.4 - 13 2028 c.1777C>T c.(1777-1779)Cgg>Tgg p.R593W FLT1_ENST00000541932.1_Missense_Mutation_p.R593W NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 593 Ig-like C2-type 6. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity p.R593W(2) NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TTAACTGTCCGCAGTAAAATC 0.393000 5 116 0 0 0.000602 0 0 SKIL 6498 broad.mit.edu 37 3 170078422 170078422 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr3:170078422G>A ENST00000458537.3 + 1 1012 c.303G>A c.(301-303)ctG>ctA p.L101L SKIL_ENST00000413427.2_Silent_p.L101L|SKIL_ENST00000259119.4_Silent_p.L101L|SKIL_ENST00000426052.2_Silent_p.L81L NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 101 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity p.L101L(2) cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) AGAGCTCGCTGGGTGGACCAG 0.463000 59 214 0 0 0.003610 0 0 IGHV3-11 28450 broad.mit.edu 37 14 106573236 106573236 + RNA SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr14:106573236C>T ENST00000390601.2 - 0 467 CTGTGTCTCTCGCACAGTAAT 0.602000 10 263 0 0 0.001855 0 0 RFPL1 5988 broad.mit.edu 37 22 29837625 29837625 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr22:29837625G>A ENST00000354373.2 + 2 677 c.468G>A c.(466-468)cgG>cgA p.R156R RFPL1S_ENST00000461286.2_RNA|RFPL1S_ENST00000539579.1_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 156 B30.2/SPRY. zinc ion binding p.R156R(1) endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 CACAGAATCGGCAAGACCTTG 0.557000 4 81 0 0 0.000602 0 0 FRG1B 284802 broad.mit.edu 37 20 29614328 29614328 + Splice_Site SNP G G A rs137860963 by1000genomes TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr20:29614328G>A ENST00000278882.3 + 2 320 c.e2+1 FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGATACGTTGGTGAGTCAGTT 0.289000 5 82 0 0 0.003080 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625383 140625383 + Silent SNP G G T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr5:140625383G>T ENST00000231173.3 + 1 237 c.237G>T c.(235-237)ctG>ctT p.L79L NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 79 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.L79L(1) NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCTTGATCTGCAGACCGGGC 0.537000 19 41 1.33834e-09 4.05727e-09 0.000958 1 0 SLC12A7 10723 broad.mit.edu 37 5 1083938 1083938 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr5:1083938C>T ENST00000264930.5 - 8 1094 c.1051G>A c.(1051-1053)Gcc>Acc p.A351T NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 351 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity p.A351T(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) TCGTCACAGGCGGCGCTGGGC 0.647000 15 42 0 0 0.002450 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54649009 54649009 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr5:54649009C>T ENST00000230640.5 + 14 1699 c.1445C>T c.(1444-1446)aCg>aTg p.T482M SKIV2L2_ENST00000545714.1_Missense_Mutation_p.T381M NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 482 Helicase C-terminal. maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.T482M(1) NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) TTATTTGCCACGGAGACCTTT 0.318000 8 157 0 0 0.000978 0 0 RP1-125I3.2 0 broad.mit.edu 37 1 26186960 26186960 + RNA DEL T T - TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:26186960delT ENST00000455431.1 + 0 263 AATTTTGTAATTTTTTTTTTT 0.552 2 4 --- --- --- --- RP11-782C8.1 0 broad.mit.edu 37 1 143217265 143217266 + RNA INS - - A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:143217265_143217266insA ENST00000438000.1 + 0 59 GTTAGTAAAGCAAAAAAAAAAC 0.282 3 5 --- --- --- --- CCDC88A 55704 broad.mit.edu 37 2 55555500 55555501 + Frame_Shift_Ins INS - - T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr2:55555500_55555501insT ENST00000436346.1 - 17 3767_3768 c.2926_2927insA c.(2926-2928)tgcfs p.C976fs CCDC88A_ENST00000263630.8_Frame_Shift_Ins_p.C976fs|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000336838.6_Frame_Shift_Ins_p.C975fs|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Frame_Shift_Ins_p.C975fs|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 976 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 TAAAGCAGCAATTTTTTCTTCT 0.307 14 26 --- --- --- --- FREM2 341640 broad.mit.edu 37 13 39261568 39261570 + In_Frame_Del DEL GCT GCT - TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr13:39261568_39261570delGCT ENST00000280481.7 + 1 303_305 c.87_89delGCT c.(85-90)cgg>cg p.RL29del NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 29 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CGCCGCCCCGgctgctgctgctg 0.695 2 4 --- --- --- --- LOC100130950 100130950 broad.mit.edu 37 17 5096765 5096766 + RNA INS - - A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr17:5096765_5096766insA ENST00000571689.1 + 0 60 RP11-333E1.1_ENST00000575601.1_RNA NR_034082.1 ctcaaaaaaataaaaaaaaaaa 0.510 2 4 --- --- --- --- FTX 100302692 broad.mit.edu 37 X 73506653 73506654 + RNA INS - - A rs149262205 TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chrX:73506653_73506654insA ENST00000429124.1 - 0 174 acctgtcccttaaaaaaaaaaa 0.455 4 3 --- --- --- ---