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 KCND3 3752 broad.mit.edu 37 1 112329617 112329617 + Silent SNP A A G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:112329617A>G ENST00000369697.1 - 2 1287 c.1218T>C c.(1216-1218)ttT>ttC p.F406F KCND3_ENST00000315987.2_Silent_p.F406F|KCND3_ENST00000302127.4_Silent_p.F406F Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 406 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) AAATCCGGCTAAAGTTGGAAA 0.547000 24 60 0 0 1 0 0 SERPINB9 5272 broad.mit.edu 37 6 2893683 2893683 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:2893683C>T ENST00000380698.4 - 5 618 c.529G>A c.(529-531)Gaa>Aaa p.E177K NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 177 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) GTGTATGTTTCGTCAAACGGT 0.398000 24 149 0 0 1 0 0 TSC1 7248 broad.mit.edu 37 9 135776204 135776204 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:135776204G>A ENST00000298552.3 - 20 2744 c.2523C>T c.(2521-2523)gtC>gtT p.V841V TSC1_ENST00000545250.1_Silent_p.V790V|TSC1_ENST00000440111.2_Silent_p.V841V NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 841 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TCTGCTGCTGGACCGACTCAC 0.448000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 13 86 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61833195 61833195 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:61833195C>T ENST00000280772.1 - 37 7635 c.7444G>A c.(7444-7446)Gaa>Aaa p.E2482K ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2482 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GTAACCGATTCCTCAGTATCA 0.458000 27 65 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138645190 138645190 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:138645190G>A ENST00000251691.4 + 31 5066 c.4900G>A c.(4900-4902)Gag>Aag p.E1634K NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1634 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) CAGCGGCACGGAGAGCTTCAG 0.652000 21 49 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23825111 23825111 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:23825111C>T ENST00000354639.3 + 18 2558 c.2094C>T c.(2092-2094)ctC>ctT p.L698L STK31_ENST00000355870.3_Silent_p.L721L|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Silent_p.L721L|STK31_ENST00000428484.1_Silent_p.L698L NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 721 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 CTGGTGGTCTCCTTACAATGA 0.393000 34 115 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17599902 17599902 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:17599902G>A ENST00000375460.3 + 10 1155 c.1115G>A c.(1114-1116)aGg>aAg p.R372K NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 372 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GACTCCCCAAGGAATGGGGAA 0.612000 6 25 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79372965 79372965 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:79372965G>A ENST00000264895.6 + 46 6943 c.6503G>A c.(6502-6504)gGg>gAg p.G2168E NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2167 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GAACCTGGAGGGAGCTTTGCT 0.368000 5 33 0 0 1 0 0 SNAPC2 6618 broad.mit.edu 37 19 7986621 7986621 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:7986621G>A ENST00000221573.6 + 3 386 c.335G>A c.(334-336)gGg>gAg p.G112E SNAPC2_ENST00000597584.1_5'UTR|SNAPC2_ENST00000595035.1_3'UTR NM_003083.3 NP_003074.1 Q13487 SNPC2_HUMAN small nuclear RNA activating complex, polypeptide 2, 45kDa 112 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 AAGATAACAGGGCCACTGGAA 0.612000 8 9 0 0 1 0 0 ACVR2A 92 broad.mit.edu 37 2 148683722 148683722 + Nonsense_Mutation SNP A A T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:148683722A>T ENST00000241416.7 + 10 1975 c.1339A>T c.(1339-1341)Aaa>Taa p.K447* ACVR2A_ENST00000404590.1_Nonsense_Mutation_p.K447*|ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Nonsense_Mutation_p.K339* NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 447 Protein kinase. activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) TTATTGGCAGAAACATGCTGT 0.363000 16 66 0 0 1 0 0 PRPSAP1 5635 broad.mit.edu 37 17 74307761 74307761 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:74307761G>A ENST00000446526.3 - 10 1465 c.1020C>T c.(1018-1020)gtC>gtT p.V340V PRPSAP1_ENST00000324684.4_Silent_p.V237V|PRPSAP1_ENST00000588364.1_5'UTR NM_002766.2 NP_002757.2 Q14558 KPRA_HUMAN phosphoribosyl pyrophosphate synthetase-associated protein 1 311 nucleotide biosynthetic process enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 CCTCATGAGGGACAGTATTCG 0.438000 14 74 0 0 1 0 0 CCDC80 151887 broad.mit.edu 37 3 112324446 112324446 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:112324446C>T ENST00000206423.3 - 8 3624 c.2671G>A c.(2671-2673)Gat>Aat p.D891N CCDC80_ENST00000439685.2_Missense_Mutation_p.D891N NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 891 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 TCAATTAAATCGTACACAATC 0.483000 13 51 0 0 1 0 0 ZNF197 10168 broad.mit.edu 37 3 44684804 44684804 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:44684804C>T ENST00000396058.1 + 5 2349 c.2182C>T c.(2182-2184)Cat>Tat p.H728Y RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.H728Y|ZNF197_ENST00000383744.4_Intron O14709 ZN197_HUMAN zinc finger protein 197 728 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) TCAGAAACTCCATACACAAGA 0.433000 30 124 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56424312 56424312 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:56424312C>T ENST00000588751.1 - 5 895 c.871G>A c.(871-873)Gat>Aat p.D291N NLRP13_ENST00000342929.3_Missense_Mutation_p.D291N Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 291 NACHT. ATP binding p.D291N(1) 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) GCATCAAAATCGGGCCAATCC 0.398000 21 68 0 0 1 0 0 ACSL1 2180 broad.mit.edu 37 4 185687872 185687872 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:185687872G>A ENST00000515030.1 - 13 1492 c.1167C>T c.(1165-1167)ctC>ctT p.L389L ACSL1_ENST00000507295.1_Silent_p.L355L|ACSL1_ENST00000454703.2_Silent_p.L218L|ACSL1_ENST00000513317.1_Silent_p.L389L|ACSL1_ENST00000504342.1_Silent_p.L389L|ACSL1_ENST00000437665.3_Silent_p.L218L|ACSL1_ENST00000281455.2_Silent_p.L389L P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 389 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CAAAGTCCAAGAGCCATCGCT 0.488000 31 85 0 0 1 0 0 SLC7A10 56301 broad.mit.edu 37 19 33703782 33703782 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:33703782G>A ENST00000253188.3 - 3 629 c.483C>T c.(481-483)tcC>tcT p.S161S NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 161 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) ACAGCACCCGGGAGGCTGTGG 0.627000 21 72 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151876967 151876967 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:151876967G>A ENST00000355193.2 - 37 7612 c.7394C>T c.(7393-7395)cCc>cTc p.P2465L KMT2C_ENST00000262189.6_Missense_Mutation_p.P2465L lysine (K)-specific methyltransferase 2C AGGAGGATAGGGTCCACGCTG 0.458000 28 207 0 0 1 0 0 SERPINA9 327657 broad.mit.edu 37 14 94935965 94935965 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:94935965G>A ENST00000337425.5 - 2 341 c.267C>T c.(265-267)tcC>tcT p.S89S SERPINA9_ENST00000546329.1_Silent_p.S53S|SERPINA9_ENST00000298845.7_Silent_p.S89S|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000380365.3_Silent_p.S71S|SERPINA9_ENST00000448305.2_5'UTR NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 71 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) CACTCACAGGGGAGAAGAAGA 0.582000 21 68 0 0 1 0 0 FAM186B 84070 broad.mit.edu 37 12 49981429 49981429 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:49981429C>T ENST00000257894.2 - 7 2802 c.2641G>A c.(2641-2643)Gga>Aga p.G881R FAM186B_ENST00000544141.1_Intron|FAM186B_ENST00000551047.1_Intron NM_032130.2 NP_115506.1 Q8IYM0 F186B_HUMAN family with sequence similarity 186, member B 881 protein complex breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TCTGGGTGTCCCCTCAGCTGG 0.582000 16 41 0 0 1 0 0 GPR37 2861 broad.mit.edu 37 7 124386813 124386813 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:124386813G>A ENST00000303921.2 - 2 2258 c.1608C>T c.(1606-1608)ttC>ttT p.F536F NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 536 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 AGAACAAAAGGAACTGGCTGA 0.468000 22 134 0 0 1 0 0 KIF2A 3796 broad.mit.edu 37 5 61659093 61659093 + Missense_Mutation SNP A A G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:61659093A>G ENST00000381103.2 + 14 1633 c.1148A>G c.(1147-1149)gAg>gGg p.E383G KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000506857.1_Missense_Mutation_p.E357G|KIF2A_ENST00000401507.3_Missense_Mutation_p.E403G|KIF2A_ENST00000407818.3_Missense_Mutation_p.E403G NM_001243952.1 NP_001230881.1 O00139 KIF2A_HUMAN kinesin heavy chain member 2A 403 Kinesin-motor. blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 15 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) CAGGAACGGGAGGTCAAATGT 0.368000 5 29 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4190644 4190644 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:4190644C>T ENST00000296358.4 - 6 1749 c.1725G>A c.(1723-1725)gaG>gaA p.E575E NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 575 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CAAAGACAATCTCCTCCAATC 0.493000 5 127 0 0 1 0 0 IL37 27178 broad.mit.edu 37 2 113675304 113675304 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:113675304C>T ENST00000263326.3 + 4 400 c.358C>T c.(358-360)Ctc>Ttc p.L120F IL37_ENST00000352179.3_Missense_Mutation_p.L99F|IL37_ENST00000311328.2_Missense_Mutation_p.L94F|IL37_ENST00000353225.3_Missense_Mutation_p.L80F|IL37_ENST00000349806.3_Missense_Mutation_p.L59F NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 120 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 GGAGTTTTGTCTCTACTGTGA 0.478000 35 116 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94224666 94224666 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:94224666C>T ENST00000515393.1 - 12 1850 c.1851G>A c.(1849-1851)agG>agA p.R617R MCTP1_ENST00000505078.1_Silent_p.R133R|MCTP1_ENST00000429576.2_Silent_p.R350R|MCTP1_ENST00000312216.8_Silent_p.R396R|MCTP1_ENST00000505208.1_Silent_p.R396R NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 617 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding p.R617S(2) breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TGTGAAATATCCTCAATGGGC 0.423000 16 53 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200967693 200967693 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:200967693G>A ENST00000332129.2 - 14 2212 c.1896C>T c.(1894-1896)ttC>ttT p.F632F KIF21B_ENST00000422435.2_Silent_p.F632F|KIF21B_ENST00000360529.5_Silent_p.F632F|KIF21B_ENST00000461742.2_Silent_p.F632F NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 632 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GGTCCGCCTGGAAGTTCACCT 0.612000 15 72 0 0 1 0 0 OR1A1 8383 broad.mit.edu 37 17 3119772 3119772 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:3119772C>T ENST00000304094.1 + 1 858 c.858C>T c.(856-858)ttC>ttT p.F286F NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 286 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 TAAATCCTTTCATCTACAGTC 0.473000 21 102 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123838975 123838975 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:123838975G>A ENST00000422452.2 - 5 966 c.903C>T c.(901-903)tcC>tcT p.S301S TENM1_ENST00000371130.3_Silent_p.S301S NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 AGGCAGGTCGGGAAAAGGTGC 0.527000 48 72 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38955747 38955747 + Silent SNP A A G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:38955747A>G ENST00000357387.3 - 26 2589 c.2559T>C c.(2557-2559)acT>acC p.T853T RICTOR_ENST00000296782.5_Silent_p.T853T|RICTOR_ENST00000503698.1_5'UTR NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 853 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) GCTTCCGGTAAGTAGTAAGTG 0.343000 13 73 0 0 1 0 0 SLC52A3 113278 broad.mit.edu 37 20 744236 744236 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:744236G>A ENST00000381944.3 - 3 1220 c.979C>T c.(979-981)Ctg>Ttg p.L327L SLC52A3_ENST00000217254.7_Silent_p.L327L|SLC52A3_ENST00000473664.1_Intron Q9NQ40 RFT2_HUMAN solute carrier family 52 (riboflavin transporter), member 3 327 sensory perception of sound integral to plasma membrane riboflavin transporter activity CCATAGGACAGGCAGGAGTAG 0.622000 58 102 0 0 1 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332530 22332530 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:22332530G>A ENST00000558896.1 + 0 337 ATTGTCCTGGGAAACCTCTTG 0.393000 25 97 0 0 1 0 0 ABCD2 225 broad.mit.edu 37 12 40001459 40001459 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:40001459C>T ENST00000308666.3 - 3 1313 c.1178G>A c.(1177-1179)cGa>cAa p.R393Q NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 393 ABC transmembrane type-1. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 CAGTAAATTTCGAGCAGTGGT 0.323000 22 85 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118598420 118598420 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:118598420C>T ENST00000336338.5 - 19 2723 c.2658G>A c.(2656-2658)ttG>ttA p.L886L NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 886 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CAGAAGATTTCAATTCCAGCT 0.308000 5 37 0 0 1 0 0 SMG5 23381 broad.mit.edu 37 1 156237363 156237363 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:156237363C>T ENST00000361813.5 - 10 1159 c.1015G>A c.(1015-1017)Gat>Aat p.D339N SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 339 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) TCCTCCTCATCCTCACTGGCC 0.537000 42 66 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36211905 36211905 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:36211905C>T ENST00000222270.7 + 3 1656 c.1656C>T c.(1654-1656)ccC>ccT p.P552P KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000341701.1_Intron|WBP7_ENST00000420124.1_Silent_p.P552P NM_014727.1 NP_055542.1 AAGACCCCCCCAAACCCCCAA 0.592000 6 10 0 0 1 0 0 SDC3 9672 broad.mit.edu 37 1 31349635 31349635 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:31349635G>A ENST00000336798.7 - 1 1952 c.460C>T c.(460-462)Ctg>Ttg p.L154L SDC3_ENST00000471567.1_5'UTR|SDC3_ENST00000339394.6_Silent_p.L212L O75056 SDC3_HUMAN syndecan 3 212 Ser/Thr-rich (mucin-like). integral to membrane cytoskeletal protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) GGGAGAGGCAGAAGCCTCCGT 0.682000 14 42 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105836092 105836092 + Silent SNP T T G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:105836092T>G ENST00000353479.5 - 5 588 c.298A>C c.(298-300)Agg>Cgg p.R100R COL17A1_ENST00000369733.3_Silent_p.R100R|COL17A1_ENST00000393211.3_Silent_p.R100R NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 100 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TGAGTTTTCCTTTCAAAGGTT 0.517000 24 142 0 0 1 0 0 REN 5972 broad.mit.edu 37 1 204125846 204125846 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:204125846G>A ENST00000367195.2 - 6 811 c.768C>T c.(766-768)atC>atT p.I256I REN_ENST00000272190.8_Silent_p.I259I P00797 RENI_HUMAN renin 259 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity 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) TGATGAGGTTGATATAGTGGA 0.522000 63 75 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53028865 53028865 + Silent SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:53028865T>C ENST00000276480.7 - 25 3656 c.2973A>G c.(2971-2973)tcA>tcG p.S991S NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 991 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CAGCAAGGCTTGAAATGAGAG 0.458000 30 75 0 0 1 0 0 LY75-CD302 100526664 broad.mit.edu 37 2 160637469 160637469 + Silent SNP A A C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:160637469A>C ENST00000504764.1 - 36 5169 c.5142T>G c.(5140-5142)gcT>gcG p.A1714A CD302_ENST00000429078.2_Silent_p.A73A|LY75_ENST00000554112.1_Silent_p.A1714A|CD302_ENST00000259053.4_Silent_p.A73A|LY75_ENST00000553424.1_Silent_p.A1658A|LY75-CD302_ENST00000505052.1_Silent_p.A1658A|CD302_ENST00000480212.1_5'UTR NM_001198759.1 NP_001185688.1 O60449 LY75_HUMAN 1582 endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding CCAGTATAAAAGCATTTTCTT 0.348000 8 36 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80388749 80388749 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:80388749G>A ENST00000265080.4 + 10 1587 c.1520G>A c.(1519-1521)aGa>aAa p.R507K NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 507 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) ATATGTACAAGAAGTTCAGGA 0.373000 33 110 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179494147 179494147 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:179494147G>A ENST00000589042.1 - 240 44529 c.44305C>T c.(44305-44307)Cct>Tct p.P14769S TTN_ENST00000342175.6_Missense_Mutation_p.P5896S|TTN_ENST00000342992.6_Missense_Mutation_p.P12201S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P5829S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P13128S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P5704S|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13128 Fibronectin type-III 6. 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) TCCTTTAAAGGCCTCAGAAGA 0.438000 12 52 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21552450 21552450 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:21552450C>T ENST00000281523.2 - 4 860 c.342G>A c.(340-342)atG>atA p.M114I ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 114 nucleus nucleic acid binding|zinc ion binding p.M114I(1) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GCTTATTTTTCATGGCTTCCA 0.463000 14 79 0 0 1 0 0 LCTL 197021 broad.mit.edu 37 15 66845596 66845596 + Splice_Site SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:66845596C>T ENST00000341509.5 - 9 1054 c.922_splice c.e9-1 p.G308_splice LCTL_ENST00000537670.1_Splice_Site_p.G135_splice NM_207338.2 NP_997221.2 Q6UWM7 LCTL_HUMAN lactase-like 308 carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACTCTTTCTTCCTTTTGAGAG 0.428000 29 95 0 0 1 0 0 SLC25A46 91137 broad.mit.edu 37 5 110097045 110097045 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:110097045C>T ENST00000355943.3 + 8 946 c.820C>T c.(820-822)Ctt>Ttt p.L274F SLC25A46_ENST00000504098.1_Missense_Mutation_p.L128F|SLC25A46_ENST00000509442.2_Missense_Mutation_p.L183F|SLC25A46_ENST00000513807.1_Missense_Mutation_p.L112F|SLC25A46_ENST00000509432.1_Missense_Mutation_p.L61F|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000447245.2_Intron NM_138773.1 NP_620128.1 Q96AG3 S2546_HUMAN solute carrier family 25, member 46 274 transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211) TCATGGAGTTCTTCATTACAT 0.433000 21 75 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228487166 228487166 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:228487166G>A ENST00000570156.2 + 50 13491 c.13417G>A c.(13417-13419)Ggg>Agg p.G4473R OBSCN_ENST00000284548.11_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1163R|OBSCN_ENST00000366709.4_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3516 Ig-like 46. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGCAGATAACGGGGTGTACTC 0.542000 25 171 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48567570 48567570 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:48567570C>T ENST00000537810.1 - 29 3912 c.3308G>A c.(3307-3309)aGa>aAa p.R1103K FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.R1103K|FRYL_ENST00000507711.1_Missense_Mutation_p.R1103K|FRYL_ENST00000358350.4_Missense_Mutation_p.R1103K O94915 FRYL_HUMAN FRY-like 1103 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GTATTGATGTCTATTAATTTG 0.353000 7 19 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20620541 20620541 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:20620541G>A ENST00000504154.1 + 37 4751 c.4499G>A c.(4498-4500)cGg>cAg p.R1500Q SLIT2_ENST00000503823.1_Missense_Mutation_p.R1492Q|SLIT2_ENST00000503837.1_Missense_Mutation_p.R1496Q|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1513Q NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1500 CTCK. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AGCAAGCGGCGGAAATACTCT 0.557000 11 36 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179579962 179579962 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:179579962G>A ENST00000589042.1 - 90 26175 c.25951C>T c.(25951-25953)Cct>Tct p.P8651S TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P7407S|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P8334S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8334 Ig-like 69. 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) GTCTCTATAGGATGAGGCTTT 0.383000 23 69 0 0 1 0 0 OR5R1 219479 broad.mit.edu 37 11 56185432 56185432 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:56185432G>A ENST00000312253.1 - 1 276 c.277C>T c.(277-279)Cct>Tct p.P93S NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) GCATGGAAAGGAATGGTGTTG 0.463000 9 45 0 0 1 0 0 OR51L1 119682 broad.mit.edu 37 11 5021142 5021142 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:5021142C>T ENST00000321543.1 + 1 930 c.930C>T c.(928-930)gtC>gtT p.V310V NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ACAAGTTTGTCCTAAGGAGGA 0.403000 20 48 0 0 1 0 0 CFHR2 3080 broad.mit.edu 37 1 196928040 196928040 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:196928040G>A ENST00000367415.4 + 5 757 c.643G>A c.(643-645)Gaa>Aaa p.E215K CFHR2_ENST00000367421.3_Missense_Mutation_p.E215K|CFHR2_ENST00000476712.1_3'UTR NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 215 Sushi 4. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 AGAAATTATGGAAAAATATAA 0.284000 7 25 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74492506 74492506 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:74492506C>T ENST00000354431.4 - 8 2057 c.1866G>A c.(1864-1866)ctG>ctA p.L622L LRRIQ3_ENST00000395089.1_Silent_p.L622L NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 622 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTCATTTTATCAGTCCATTGG 0.289000 7 17 0 0 1 0 0 KRT16P6 353194 broad.mit.edu 37 17 16722940 16722940 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:16722940C>T ENST00000417510.1 - 0 873 GGGCATTCATCTCCTGCACTG 0.562000 9 70 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56477726 56477726 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:56477726G>A ENST00000291971.3 + 5 2432 c.2361G>A c.(2359-2361)cgG>cgA p.R787R NLRP8_ENST00000590542.1_Silent_p.R787R NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 787 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) GATCCCCCCGGTGCCGTCTGC 0.537000 9 50 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 96706525 96706525 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:96706525C>T ENST00000389672.5 + 3 840 c.802C>T c.(802-804)Cgt>Tgt p.R268C EPHA6_ENST00000470610.2_Missense_Mutation_p.R268C|EPHA6_ENST00000542517.1_Missense_Mutation_p.R174C NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 173 integral to plasma membrane ATP binding|ephrin receptor activity p.R174C(3) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CACTGAAATTCGTGAGGTGGG 0.443000 50 218 0 0 1 0 0 KBTBD2 25948 broad.mit.edu 37 7 32910037 32910037 + Silent SNP A A C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:32910037A>C ENST00000304056.4 - 4 1491 c.792T>G c.(790-792)acT>acG p.T264T AVL9_ENST00000404479.1_Intron NM_015483.2 NP_056298.2 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 264 endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(11;0.0499) TTTCCTCTTTAGTCATCCCAA 0.408000 29 35 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110505951 110505951 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:110505951G>A ENST00000378402.5 + 63 10402 c.10298G>A c.(10297-10299)gGa>gAa p.G3433E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3433 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGAAGAGCAGGATACCGCATT 0.343000 HNSCC(38;0.096) 10 34 0 0 1 0 0 ZNF287 57336 broad.mit.edu 37 17 16470906 16470906 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:16470906G>A ENST00000395824.1 - 2 757 c.140C>T c.(139-141)aCc>aTc p.T47I ZNF287_ENST00000395825.3_Missense_Mutation_p.T47I Q9HBT7 ZN287_HUMAN zinc finger protein 287 40 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) CTGTCGACAGGTCTCAGTGTC 0.473000 18 81 0 0 1 0 0 ITGA3 3675 broad.mit.edu 37 17 48155447 48155447 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:48155447C>T ENST00000320031.8 + 17 2507 c.2177C>T c.(2176-2178)aCc>aTc p.T726I ITGA3_ENST00000007722.7_Missense_Mutation_p.T726I NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 726 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 ATCGGGGTGACCCTGCACACA 0.602000 14 83 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119428076 119428076 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:119428076G>A ENST00000369429.3 - 8 1097 c.1088C>T c.(1087-1089)tCt>tTt p.S363F TBX15_ENST00000207157.3_Missense_Mutation_p.S257F Q96SF7 TBX15_HUMAN T-box 15 363 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) TAAAAGATGAGAAGAAGCCGA 0.493000 5 11 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57334191 57334191 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:57334191C>T ENST00000326441.9 - 6 858 c.495G>A c.(493-495)tgG>tgA p.W165* ZIM2_ENST00000593931.1_Nonsense_Mutation_p.W40*|PEG3_ENST00000593695.1_Nonsense_Mutation_p.W39*|PEG3_ENST00000423103.2_Nonsense_Mutation_p.W165*|ZIM2_ENST00000391708.3_Nonsense_Mutation_p.W40*|PEG3_ENST00000598410.1_Nonsense_Mutation_p.W40*|ZIM2_ENST00000221722.5_Nonsense_Mutation_p.W40*|ZIM2_ENST00000593711.1_Nonsense_Mutation_p.W40*|ZIM2_ENST00000601070.1_Nonsense_Mutation_p.W40*|ZIM2_ENST00000599935.1_Nonsense_Mutation_p.W40* NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 165 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) CCCTCCGGTCCCAGTCCCGGT 0.537000 4 19 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155212306 155212306 + Splice_Site SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:155212306C>T ENST00000460012.1 - 16 2162 c.1804_splice c.e16-1 p.G602_splice PLCH1_ENST00000414191.1_Splice_Site_p.G602_splice|PLCH1_ENST00000340059.7_Splice_Site_p.G620_splice|PLCH1_ENST00000334686.6_Splice_Site_p.G602_splice|PLCH1_ENST00000447496.2_Splice_Site_p.G620_splice|PLCH1_ENST00000494598.1_Splice_Site_p.G620_splice Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 620 PI-PLC Y-box. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCCTGTGGTTCCTGGCAGTTT 0.363000 12 40 0 0 1 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12942176 12942176 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:12942176C>T ENST00000235349.5 - 3 444 c.374G>A c.(373-375)gGg>gAg p.G125E NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 125 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGGAAGCACCCATGGGCCAT 0.493000 48 185 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 116930426 116930426 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:116930426C>T ENST00000356083.3 + 3 982 c.591C>T c.(589-591)ttC>ttT p.F197F NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 197 Laminin G-like.|TSP N-terminal. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GGGGCTCCTTCCTCTTTGGGA 0.607000 23 26 0 0 1 0 0 CLDN16 10686 broad.mit.edu 37 3 190106190 190106190 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:190106190C>T ENST00000264734.2 + 1 530 c.282C>T c.(280-282)acC>acT p.T94T CLDN16_ENST00000456423.1_Silent_p.T94T|CLDN16_ENST00000468220.1_Intron NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 94 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) TTGTGGCCACCTGGACTGACT 0.478000 59 210 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74277017 74277017 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:74277017G>A ENST00000262765.5 - 9 3962 c.3783C>T c.(3781-3783)ggC>ggT p.G1261G NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1261 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 TCTGCACACGGCCCAGCAGCT 0.617000 11 39 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87051439 87051439 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:87051439G>A ENST00000265723.4 - 18 2425 c.2314C>T c.(2314-2316)Cag>Tag p.Q772* ABCB4_ENST00000545634.1_Nonsense_Mutation_p.Q772*|ABCB4_ENST00000453593.1_Nonsense_Mutation_p.Q772*|ABCB4_ENST00000359206.3_Nonsense_Mutation_p.Q772*|ABCB4_ENST00000358400.3_Nonsense_Mutation_p.Q772* NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 772 ABC transmembrane type-1 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GTACCTACCTGAAGGAAGAAA 0.323000 13 15 0 0 1 0 0 DCT 1638 broad.mit.edu 37 13 95118854 95118854 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr13:95118854G>A ENST00000377028.5 - 3 1067 c.654C>T c.(652-654)acC>acT p.T218T DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Silent_p.T218T NM_001922.3 NP_001913.2 P40126 TYRP2_HUMAN dopachrome tautomerase 218 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) ACCGGTGCCAGGTAACAAATG 0.373000 9 38 0 0 1 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168930 142168930 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:142168930C>T ENST00000454561.2 - 0 115 CCTTGATTTTCCTAATAGGAG 0.572000 5 8 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145580082 145580082 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:145580082G>A ENST00000296575.3 + 3 1268 c.613G>A c.(613-615)Gtg>Atg p.V205M HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.V205M NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 205 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) ATATGACAAAGTGGAAGAGAT 0.378000 15 55 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73270718 73270718 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:73270718C>T ENST00000224721.6 + 4 301 c.296C>T c.(295-297)tCa>tTa p.S99L CDH23_ENST00000398809.4_Missense_Mutation_p.S99L|CDH23_ENST00000398842.3_Missense_Mutation_p.S99L|CDH23_ENST00000299366.7_Missense_Mutation_p.S144L|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000461841.3_Missense_Mutation_p.S144L NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 99 Cadherin 1. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CAGACCAAGTCAGAGTTCACC 0.612000 15 60 0 0 1 0 0 ZNF556 80032 broad.mit.edu 37 19 2877596 2877596 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:2877596C>T ENST00000586426.1 + 4 724 c.637C>T c.(637-639)Cgt>Tgt p.R213C ZNF556_ENST00000307635.2_Missense_Mutation_p.R214C Q9HAH1 ZN556_HUMAN zinc finger protein 556 214 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 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) GACATTTCTTCGTTCCCACTC 0.498000 12 54 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18889240 18889240 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:18889240C>T ENST00000266505.7 - 3 313 c.50G>A c.(49-51)gGa>gAa p.G17E PLCZ1_ENST00000435379.1_Missense_Mutation_p.G15E|PLCZ1_ENST00000447925.2_Missense_Mutation_p.G15E|PLCZ1_ENST00000539875.1_Missense_Mutation_p.G17E|RP11-361I14.2_ENST00000536931.1_RNA Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 17 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) GTTAATTTTTCCACCTCTGAA 0.308000 11 30 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38948883 38948883 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:38948883C>T ENST00000355481.4 + 18 2249 c.2118C>T c.(2116-2118)gtC>gtT p.V706V RYR1_ENST00000360985.3_Silent_p.V706V|RYR1_ENST00000359596.3_Silent_p.V706V NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 706 B30.2/SPRY 1. 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) GCAACGGGGTCGGCGATGACC 0.657000 25 115 0 0 1 0 0 ALDH5A1 7915 broad.mit.edu 37 6 24502822 24502822 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:24502822C>T ENST00000357578.3 + 2 571 c.426C>T c.(424-426)atC>atT p.I142I ALDH5A1_ENST00000491546.1_Intron|ALDH5A1_ENST00000348925.2_Silent_p.I142I|ALDH5A1_ENST00000546278.1_Silent_p.I54I NM_001080.3 NP_001071.1 P51649 SSDH_HUMAN aldehyde dehydrogenase 5 family, member A1 142 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1) 20 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) CCAGAATAATCACAGCTGAAA 0.403000 3 26 0 0 1 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15871661 15871661 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:15871661G>A ENST00000595525.1 + 0 477 CYP4F24P_ENST00000587443.2_RNA AGCCAGAGGTGACCTCTCCTT 0.582000 12 61 0 0 1 0 0 TKT 7086 broad.mit.edu 37 3 53264508 53264508 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:53264508G>A ENST00000462138.1 - 8 1160 c.1072C>T c.(1072-1074)Cgc>Tgc p.R358C TKT_ENST00000296289.6_Missense_Mutation_p.R311C|TKT_ENST00000423516.1_Missense_Mutation_p.R366C|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Missense_Mutation_p.R358C P29401 TKT_HUMAN transketolase 358 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) TCGATGAAGCGGTCCGGGTGC 0.602000 18 59 0 0 1 0 0 IL9R 3581 broad.mit.edu 37 X 155231168 155231168 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:155231168G>A ENST00000540897.1 + 2 178 c.110G>A c.(109-111)gGa>gAa p.G37E IL9R_ENST00000244174.5_Intron|IL9R_ENST00000424344.3_5'UTR|IL9R_ENST00000369423.2_Missense_Mutation_p.G47E NM_176786.1 NP_789743.2 Q01113 IL9R_HUMAN interleukin 9 receptor 0 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TCCATTCTAGGAAAGGGTGAG 0.552000 38 248 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45717486 45717486 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:45717486G>A ENST00000297323.7 + 9 1646 c.1624G>A c.(1624-1626)Gcc>Acc p.A542T NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 542 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) ATTAAGAACAGCCTCGGAAAA 0.493000 20 134 0 0 1 0 0 CNIH3 149111 broad.mit.edu 37 1 224872500 224872500 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:224872500G>A ENST00000272133.3 + 3 1035 c.153G>A c.(151-153)agG>agA p.R51R NM_152495.1 NP_689708.1 Q8TBE1 CNIH3_HUMAN cornichon family AMPA receptor auxiliary protein 3 51 intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane large_intestine(5)|lung(4) 9 Breast(184;0.218) GBM - Glioblastoma multiforme(131;0.073) CCTGATAGAGGGAACGGTTGA 0.542000 58 103 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22927425 22927425 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:22927425C>T ENST00000166244.3 + 15 2645 c.2573C>T c.(2572-2574)cCc>cTc p.P858L NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 858 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TACCGCCTGCCCGCACCCATG 0.692000 12 65 0 0 1 0 0 RECQL5 9400 broad.mit.edu 37 17 73658915 73658915 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:73658915G>A ENST00000420326.2 - 4 574 c.415C>T c.(415-417)Cag>Tag p.Q139* RECQL5_ENST00000423245.2_Nonsense_Mutation_p.Q112*|RECQL5_ENST00000317905.5_Nonsense_Mutation_p.Q139*|RECQL5_ENST00000584999.1_Nonsense_Mutation_p.Q139*|RECQL5_ENST00000340830.5_Nonsense_Mutation_p.Q139* NM_001003715.3|NM_001003716.3 NP_001003715.1|NP_001003716.1 O94762 RECQ5_HUMAN RecQ protein-like 5 139 Helicase ATP-binding. DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) AGGGTGGGCTGGAAGGAGGAT 0.552000 Other identified genes with known or suspected DNA repair function 46 257 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103317392 103317392 + Missense_Mutation SNP A A C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:103317392A>C ENST00000520539.1 - 21 3354 c.2748T>G c.(2746-2748)tgT>tgG p.C916W UBR5_ENST00000521922.1_Missense_Mutation_p.C910W|UBR5_ENST00000220959.4_Missense_Mutation_p.C916W NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 916 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) GATTTCCATCACATCTGTGGC 0.393000 31 148 0 0 1 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50404029 50404029 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:50404029C>T ENST00000435965.1 - 31 2811 c.2638G>A c.(2638-2640)Gac>Aac p.D880N CACNA2D2_ENST00000360963.3_Missense_Mutation_p.D804N|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.D873N|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.D881N|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.D873N|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.D874N|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.D873N|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.D880N|XXcos-LUCA11.4_ENST00000606259.1_RNA Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 880 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) ACCTCGCAGTCCATCTCACAG 0.587000 10 35 0 0 1 0 0 PTGFR 5737 broad.mit.edu 37 1 78958662 78958662 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:78958662C>T ENST00000370756.3 + 2 471 c.234C>T c.(232-234)ttC>ttT p.F78F PTGFR_ENST00000370757.3_Silent_p.F78F|PTGFR_ENST00000370758.1_Silent_p.F78F NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 78 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) TCACTGATTTCTTTGGCCATC 0.428000 23 89 0 0 1 0 0 OR6C76 390326 broad.mit.edu 37 12 55820708 55820708 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:55820708G>A ENST00000328314.3 + 1 671 c.671G>A c.(670-672)aGa>aAa p.R224K NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 ACTATTCTGAGAATCCCCTCA 0.373000 8 25 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089422 9089422 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:9089422G>A ENST00000397910.4 - 1 2596 c.2393C>T c.(2392-2394)tCa>tTa p.S798L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 798 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S798L(2) 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 CTCTTCCCCTGATGGAGATGG 0.522000 50 146 0 0 1 0 0 YEATS4 8089 broad.mit.edu 37 12 69764716 69764716 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:69764716C>T ENST00000247843.2 + 6 745 c.475C>T c.(475-477)Cgt>Tgt p.R159C YEATS4_ENST00000548020.1_Missense_Mutation_p.R105C NM_006530.2 NP_006521.1 O95619 YETS4_HUMAN YEATS domain containing 4 159 R -> C (in Ref. 2; CAC01935). histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth NuA4 histone acetyltransferase complex|nuclear matrix DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1) 5 all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) GACAACATCTCGTCAGCTAAC 0.343000 22 58 0 0 1 0 0 SYT12 91683 broad.mit.edu 37 11 66802139 66802139 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:66802139G>A ENST00000393946.2 + 6 1220 c.58G>A c.(58-60)Gag>Aag p.E20K SYT12_ENST00000525457.1_Missense_Mutation_p.E20K|SYT12_ENST00000526281.1_Intron|SYT12_ENST00000527043.1_Missense_Mutation_p.E20K Q8IV01 SYT12_HUMAN synaptotagmin XII 20 cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 CCCTGGCTGGGAGGTGGGTGT 0.647000 8 68 0 0 1 0 0 FCHO2 115548 broad.mit.edu 37 5 72364489 72364489 + Missense_Mutation SNP A A T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:72364489A>T ENST00000430046.2 + 19 1578 c.1462A>T c.(1462-1464)Agc>Tgc p.S488C FCHO2_ENST00000341845.6_Missense_Mutation_p.S488C|FCHO2_ENST00000512348.1_Missense_Mutation_p.S455C NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 488 Ser-rich. cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) CAGGCCATTCAGCCCACCTGT 0.403000 15 44 0 0 1 0 0 PVRIG 79037 broad.mit.edu 37 7 99817587 99817587 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:99817587G>A ENST00000317271.2 + 2 417 c.54G>A c.(52-54)gaG>gaA p.E18E GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA NM_024070.3 NP_076975.2 Q6DKI7 PVRIG_HUMAN poliovirus receptor related immunoglobulin domain containing 18 integral to membrane breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2) 11 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTGGACTGGAGGGGGCCATGG 0.647000 3 6 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 121097679 121097679 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:121097679C>T ENST00000273666.6 + 22 2636 c.2365C>T c.(2365-2367)Cga>Tga p.R789* STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.R789*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.R765*|STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R765*|STXBP5L_ENST00000497029.1_Intron NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 789 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane p.R789*(1) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) ACCACCATTTCGAAAGGCCCA 0.403000 8 36 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50596939 50596939 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:50596939G>A ENST00000444124.2 - 5 737 c.537C>T c.(535-537)atC>atT p.I179I DDC_ENST00000426377.1_Silent_p.I101I|DDC_ENST00000357936.5_Silent_p.I179I|DDC_ENST00000380984.4_Silent_p.I179I|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Intron NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 179 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) GCTTCTCCATGATAGCGGCCT 0.557000 52 85 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12163816 12163816 + Missense_Mutation SNP A A T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:12163816A>T ENST00000379388.2 + 9 7611 c.7279A>T c.(7279-7281)Acg>Tcg p.T2427S HIVEP1_ENST00000541134.1_Missense_Mutation_p.T292S NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2427 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AGTGCAGCTCACGATCCCTGC 0.522000 42 72 0 0 1 0 0 OR14K1 343170 broad.mit.edu 37 1 247902099 247902099 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:247902099C>T ENST00000283225.2 + 1 183 c.183C>T c.(181-183)ctC>ctT p.L61L RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 ACTTTTTCCTCCGACATTTGT 0.483000 23 105 0 0 1 0 0 KLK3 354 broad.mit.edu 37 19 51363302 51363302 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:51363302C>T ENST00000326003.2 + 5 746 c.705C>T c.(703-705)gcC>gcT p.A235A KLK3_ENST00000360617.3_3'UTR|KLK3_ENST00000595952.1_Silent_p.A192A NM_001030047.1|NM_001030048.1|NM_001648.2 NP_001025218.1|NP_001025219.1|NP_001639.1 P07288 KLK3_HUMAN kallikrein-related peptidase 3 235 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity 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) AACCATGTGCCCTGCCCGAAA 0.562000 28 81 0 0 1 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450125 105450125 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:105450125G>A ENST00000337685.2 + 5 1485 c.700G>A c.(700-702)Gaa>Aaa p.E234K MUM1L1_ENST00000372552.1_Missense_Mutation_p.E234K|MUM1L1_ENST00000357175.2_Missense_Mutation_p.E234K NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 234 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 TGTTAAAGATGAAAAGTTTGC 0.408000 8 15 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200960249 200960249 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:200960249G>A ENST00000332129.2 - 18 2799 c.2483C>T c.(2482-2484)cCc>cTc p.P828L KIF21B_ENST00000422435.2_Missense_Mutation_p.P828L|KIF21B_ENST00000360529.5_Missense_Mutation_p.P828L|KIF21B_ENST00000461742.2_Missense_Mutation_p.P828L NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 828 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CTCAGACATGGGCTTGGCCAG 0.637000 11 73 0 0 1 0 0 SPNS3 201305 broad.mit.edu 37 17 4389719 4389719 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:4389719C>T ENST00000355530.2 + 11 1571 c.1291C>T c.(1291-1293)Ctg>Ttg p.L431L SPNS3_ENST00000333476.2_Silent_p.L304L NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 431 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 CTCTAGTGTCCTGCGGGCCAG 0.657000 9 35 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55136248 55136248 + Missense_Mutation SNP A A G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:55136248A>G ENST00000314706.3 + 1 889 c.889A>G c.(889-891)Aaa>Gaa p.K297E NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TCCCATTGATAAATCCATGAC 0.403000 48 175 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120833322 120833322 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:120833322G>A ENST00000527524.2 + 18 2485 c.2198G>A c.(2197-2199)cGa>cAa p.R733Q GRIK4_ENST00000438375.2_Missense_Mutation_p.R733Q Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 733 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) TATCGGCAGCGAAACTGCAAC 0.557000 8 51 0 0 1 0 0 NOD1 10392 broad.mit.edu 37 7 30494901 30494901 + Missense_Mutation SNP C C A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:30494901C>A ENST00000222823.4 - 5 753 c.228G>T c.(226-228)caG>caT p.Q76H NOD1_ENST00000423334.2_Missense_Mutation_p.Q76H NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 76 CARD. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 CGCCCTTGCTCTGTACCAGGT 0.592000 16 38 3.41278e-10 3.43528e-10 1 1 0 SMG5 23381 broad.mit.edu 37 1 156237364 156237364 + Silent SNP C C T rs138984099 byFrequency TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:156237364C>T ENST00000361813.5 - 10 1158 c.1014G>A c.(1012-1014)gaG>gaA p.E338E SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 338 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) CCTCCTCATCCTCACTGGCCA 0.532000 41 65 0 0 1 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88874525 88874525 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:88874525G>A ENST00000303236.3 - 13 2777 c.2476C>T c.(2476-2478)Cga>Tga p.R826* EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Nonsense_Mutation_p.R675*|AC104134.2_ENST00000413234.1_RNA NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 826 Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 ATATGCAATCGATTAGTTTTC 0.398000 43 92 0 0 1 0 0 VAPA 9218 broad.mit.edu 37 18 9954086 9954086 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr18:9954086G>A ENST00000400000.2 + 6 883 c.628G>A c.(628-630)Gat>Aat p.D210N VAPA_ENST00000340541.4_Missense_Mutation_p.D255N|VAPA_ENST00000584796.1_3'UTR NM_003574.5|NM_194434.2 NP_003565.4|NP_919415.2 Q9P0L0 VAPA_HUMAN VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa 210 cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle protein heterodimerization activity|signal transducer activity|structural molecule activity breast(1)|lung(2)|prostate(1) 4 AGCACATTCGGATAAACCTGG 0.393000 12 50 0 0 1 0 0 CEP85 64793 broad.mit.edu 37 1 26570684 26570684 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:26570684C>T ENST00000252992.4 + 3 214 c.83C>T c.(82-84)tCc>tTc p.S28F CEP85_ENST00000451429.2_Intron NM_022778.2 NP_073615.2 Q6P2H3 CEP85_HUMAN centrosomal protein 85kDa 28 centrosome|nucleolus|spindle pole breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2) 25 AAGGGCAGTTCCCTGGGGACT 0.507000 5 14 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94156635 94156635 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:94156635C>T ENST00000553484.1 + 47 7595 c.7441C>T c.(7441-7443)Cca>Tca p.P2481S UNC79_ENST00000256339.4_Missense_Mutation_p.P2282S|UNC79_ENST00000555664.1_Missense_Mutation_p.P2420S|UNC79_ENST00000393151.2_Missense_Mutation_p.P2459S Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2459 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 GATTGGATTTCCAGAGCAATC 0.453000 18 70 0 0 1 0 0 TTLL9 164395 broad.mit.edu 37 20 30497647 30497647 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:30497647C>T ENST00000375938.4 + 6 679 c.426C>T c.(424-426)acC>acT p.T142T TTLL9_ENST00000310998.4_Silent_p.T92T|TTLL9_ENST00000375922.4_Silent_p.T92T|TTLL9_ENST00000375921.2_Silent_p.T92T|TTLL9_ENST00000375934.4_Silent_p.T124T|TTLL9_ENST00000535842.1_Silent_p.T142T Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 142 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) TCCCCAAAACCTTTGAGATGC 0.542000 23 52 0 0 1 0 0 C21orf128 150147 broad.mit.edu 37 21 43523900 43523900 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr21:43523900C>T ENST00000329015.2 - 2 484 c.333G>A c.(331-333)tgG>tgA p.W111* UMODL1_ENST00000408910.2_Intron|UMODL1_ENST00000400424.1_Intron|UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000400427.1_Intron chromosome 21 open reading frame 128 lung(4) 4 CAAGCACCATCCATCGGTCAC 0.542000 6 6 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17323622 17323622 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:17323622G>A ENST00000452699.1 - 12 1262 c.1073C>T c.(1072-1074)cCc>cTc p.P358L ATP13A2_ENST00000502860.1_5'UTR|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.P358L|ATP13A2_ENST00000326735.8_Missense_Mutation_p.P363L NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 363 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) TGCACAGTAGGGCCCCAGCCC 0.662000 20 83 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36872408 36872408 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:36872408G>A ENST00000301807.6 - 21 8781 c.6884C>T c.(6883-6885)tCg>tTg p.S2295L TRANK1_ENST00000428977.2_Missense_Mutation_p.S2295L|TRANK1_ENST00000429976.2_Missense_Mutation_p.S2845L NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2845 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CACCATATCCGAAACCCTCTT 0.597000 24 65 0 0 1 0 0 HBA1 3039 broad.mit.edu 37 16 227324 227324 + Missense_Mutation SNP C C T rs63751114 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:227324C>T ENST00000320868.5 + 3 380 c.343C>T c.(343-345)Ccc>Tcc p.P115S HBA1_ENST00000397797.1_Missense_Mutation_p.P83S NM_000558.3 NP_000549.1 P69905 HBA_HUMAN hemoglobin, alpha 1 115 P -> L (in Nouakchott).|P -> R (in Chiapas).|P -> S (in Melusine). hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex heme binding|oxygen binding|oxygen transporter activity|protein binding lung(1) 1 all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306) Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468) CGCCCACCTCCCCGCCGAGTT 0.677000 OREG0003687 type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 6 25 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200974034 200974034 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:200974034C>T ENST00000332129.2 - 6 1076 c.760G>A c.(760-762)Gat>Aat p.D254N KIF21B_ENST00000422435.2_Missense_Mutation_p.D254N|KIF21B_ENST00000360529.5_Missense_Mutation_p.D254N|KIF21B_ENST00000461742.2_Missense_Mutation_p.D254N NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 254 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GGTGTACCATCAGGAAGCCCA 0.592000 10 116 0 0 1 0 0 SIDT2 51092 broad.mit.edu 37 11 117061419 117061419 + Nonsense_Mutation SNP C C A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:117061419C>A ENST00000324225.4 + 18 2229 c.1698C>A c.(1696-1698)tgC>tgA p.C566* SIDT2_ENST00000431081.2_Nonsense_Mutation_p.C563* NM_001040455.1 NP_001035545.1 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 566 integral to membrane|lysosomal membrane NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 36 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) TCAGTGCTTGCTATCATGTGT 0.537000 4 8 0.014758 0.0147756 1 1 0 KRTAP10-2 386679 broad.mit.edu 37 21 45970656 45970656 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr21:45970656G>A ENST00000391621.1 - 1 732 c.686C>T c.(685-687)tCc>tTc p.S229F TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron NM_198693.2 NP_941966.1 P60368 KR102_HUMAN keratin associated protein 10-2 229 keratin filament large_intestine(1)|lung(4)|skin(1) 6 GGACACAGAGGAGGAGGGTCT 0.632000 28 155 0 0 1 0 0 TOP3A 7156 broad.mit.edu 37 17 18194300 18194300 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:18194300G>A ENST00000321105.5 - 12 1537 c.1323C>T c.(1321-1323)ttC>ttT p.F441F TOP3A_ENST00000542570.1_Silent_p.F346F|TOP3A_ENST00000540524.1_5'UTR NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 441 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding p.F441F(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 AGCAAGCCAGGAAATGGCGAA 0.537000 17 54 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20246068 20246068 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:20246068G>A ENST00000389656.3 + 22 2627 c.581G>A c.(580-582)aGa>aAa p.R194K RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377293.1_Missense_Mutation_p.R194K|C20orf26_ENST00000245957.5_Intron|C20orf26_ENST00000377309.2_Intron Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 0 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) GATGGAGGAAGAGCATCAGTG 0.438000 64 341 0 0 1 0 0 IGFBP1 3484 broad.mit.edu 37 7 45930313 45930313 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:45930313G>A ENST00000275525.3 + 2 812 c.516G>A c.(514-516)tgG>tgA p.W172* IGFBP1_ENST00000468955.1_Nonsense_Mutation_p.W172*|IGFBP1_ENST00000457280.1_Nonsense_Mutation_p.W172* NM_000596.2 NP_000587.1 P08833 IBP1_HUMAN insulin-like growth factor binding protein 1 172 extracellular space insulin-like growth factor binding large_intestine(2)|lung(4) 6 TCAAAAAATGGAAGGTGAGGC 0.542000 OREG0018048 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 106 0 0 1 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35142676 35142676 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:35142676G>A ENST00000436258.1 - 0 1811 TTATCAAAACGAACTCTGCGA 0.338000 15 36 0 0 1 0 0 EIF4A3 9775 broad.mit.edu 37 17 78110088 78110088 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:78110088G>A ENST00000269349.3 - 10 1251 c.1030C>T c.(1030-1032)Cct>Tct p.P344S NM_014740.3 NP_055555.1 P38919 IF4A3_HUMAN eukaryotic translation initiation factor 4A3 344 Helicase C-terminal. mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) GACACCTGAGGGACATCCAAC 0.438000 10 46 0 0 1 0 0 TAS2R39 259285 broad.mit.edu 37 7 142881159 142881159 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:142881159G>A ENST00000446620.1 + 1 648 c.648G>A c.(646-648)ggG>ggA p.G216G NM_176881.2 NP_795362.2 P59534 T2R39_HUMAN taste receptor, type 2, member 39 216 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) TTAACCTGGGGATTGTGACTC 0.468000 46 85 0 0 1 0 0 PSG11 5680 broad.mit.edu 37 19 43519497 43519497 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:43519497G>A ENST00000401740.1 - 4 838 c.735C>T c.(733-735)ttC>ttT p.F245F PSG11_ENST00000320078.7_Silent_p.F245F|PSG11_ENST00000403486.1_Silent_p.F123F|PSG11_ENST00000306322.7_Silent_p.F123F Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 245 Ig-like C2-type 2. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) TGACTGAAGGGAAAATTCTGG 0.473000 34 112 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143036677 143036677 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:143036677C>T ENST00000343257.2 + 14 1632 c.1545C>T c.(1543-1545)atC>atT p.I515I NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 515 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity 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) TTGATGACATCATCTACAAGA 0.438000 29 65 0 0 1 0 0 CD84 8832 broad.mit.edu 37 1 160523701 160523701 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:160523701G>A ENST00000368054.3 - 3 659 c.624C>T c.(622-624)gcC>gcT p.A208A CD84_ENST00000368051.3_Silent_p.A208A|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000311224.4_Silent_p.A208A|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000534968.1_Silent_p.A94A|CD84_ENST00000368048.3_Silent_p.A208A NM_003874.3 NP_003865.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 208 blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) AGAGCTGCCGGGCAGAGATGG 0.532000 29 32 0 0 1 0 0 TRBV11-2 28581 broad.mit.edu 37 7 142198021 142198021 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:142198021G>A ENST00000471935.1 - 0 48 CAGGGTCAGGGAAGGATGGGA 0.572000 10 85 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6128127 6128127 + Missense_Mutation SNP G G A rs149424724 byFrequency TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:6128127G>A ENST00000261405.5 - 28 4711 c.4457C>T c.(4456-4458)tCg>tTg p.S1486L NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1486 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding p.S1486L(1) NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CCCCAGGGTCGAAACCCCCAA 0.592000 12 34 0 0 1 0 0 SERPINA1 5265 broad.mit.edu 37 14 94847429 94847429 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:94847429G>A ENST00000448921.1 - 5 1268 c.696C>T c.(694-696)ttC>ttT p.F232F SERPINA1_ENST00000449399.3_Silent_p.F232F|SERPINA1_ENST00000404814.4_Silent_p.F232F|SERPINA1_ENST00000437397.1_Silent_p.F232F|SERPINA1_ENST00000355814.4_Silent_p.F232F|SERPINA1_ENST00000440909.1_Silent_p.F232F|SERPINA1_ENST00000393088.4_Silent_p.F232F|SERPINA1_ENST00000393087.4_Silent_p.F232F|SERPINA1_ENST00000402629.1_Silent_p.F232F NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 232 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) GGTCCACGTGGAAGTCCTCTT 0.542000 8 28 0 0 1 0 0 FAM3D 131177 broad.mit.edu 37 3 58631268 58631268 + Silent SNP G G A rs144804892 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:58631268G>A ENST00000358781.2 - 5 541 c.231C>T c.(229-231)gtC>gtT p.V77V NM_138805.2 NP_620160.1 Q96BQ1 FAM3D_HUMAN family with sequence similarity 3, member D 77 negative regulation of insulin secretion extracellular region cytokine activity large_intestine(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169) TAGGGCCCACGACGTTGGCGG 0.408000 10 34 0 0 1 0 0 CAMK1D 57118 broad.mit.edu 37 10 12867657 12867657 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:12867657C>T ENST00000378847.3 + 10 1344 c.1007C>T c.(1006-1008)tCg>tTg p.S336L CAMK1D_ENST00000378845.1_Missense_Mutation_p.S336L NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 336 Ser-rich. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) GCAAGTGTTTCGAGCAGCCTC 0.502000 32 110 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156617812 156617812 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:156617812G>A ENST00000329117.4 + 5 1015 c.679G>A c.(679-681)Gac>Aac p.D227N RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.D227N NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 227 Link 1. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTGTTACGGAGACATGGATGG 0.522000 29 182 0 0 1 0 0 FAM105B 90268 broad.mit.edu 37 5 14681703 14681703 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:14681703C>T ENST00000284274.4 + 4 533 c.455C>T c.(454-456)cCg>cTg p.P152L NM_138348.4 NP_612357.4 Q96BN8 F105B_HUMAN family with sequence similarity 105, member B 152 breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 14 Lung NSC(4;0.00696) CTGCAGGACCCGGAGCTCATG 0.542000 5 26 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66192462 66192462 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:66192462G>A ENST00000311034.2 + 7 2277 c.2101G>A c.(2101-2103)Gat>Aat p.D701N NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 701 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 GGCTGACCCTGATAACATGTT 0.592000 31 118 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20296074 20296074 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:20296074C>T ENST00000315947.1 + 1 467 c.467C>T c.(466-468)tCc>tTc p.S156F OR4N2_ENST00000568211.1_Missense_Mutation_p.S156F NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTGTCCACTCCATTATCCAG 0.532000 34 296 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197026428 197026428 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:197026428G>A ENST00000367412.1 - 6 1016 c.973C>T c.(973-975)Cca>Tca p.P325S NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 325 Sushi 5. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 ATGCATTTTGGAGGTTCTGTC 0.363000 27 130 0 0 1 0 0 GOLM1 51280 broad.mit.edu 37 9 88692332 88692332 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:88692332C>T ENST00000388712.3 - 3 472 c.304G>A c.(304-306)Gaa>Aaa p.E102K GOLM1_ENST00000388711.3_Missense_Mutation_p.E102K|GOLM1_ENST00000257504.6_5'UTR NM_016548.3 NP_057632.2 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 102 Golgi apparatus|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 CTTGCCTTTTCGTCCTGGTAC 0.532000 31 57 0 0 1 0 0 PLEKHG7 440107 broad.mit.edu 37 12 93135309 93135309 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:93135309G>A ENST00000344636.3 + 4 326 c.142G>A c.(142-144)Gac>Aac p.D48N PLEKHG7_ENST00000549856.1_Missense_Mutation_p.D48N NM_001004330.2 NP_001004330.1 Q6ZR37 PKHG7_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 7 48 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1) 17 CATCATCAAGGACTATGTAGA 0.418000 17 83 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89402120 89402120 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:89402120G>A ENST00000439576.2 + 12 6678 c.6304G>A c.(6304-6306)Gag>Aag p.E2102K ACAN_ENST00000559004.1_Missense_Mutation_p.E2102K|ACAN_ENST00000352105.7_Missense_Mutation_p.E2102K|ACAN_ENST00000561243.1_Missense_Mutation_p.E2102K NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2102 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) ATCTAGCAGTGAGACGTCCGC 0.572000 10 42 0 0 1 0 0 IHH 3549 broad.mit.edu 37 2 219920173 219920173 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:219920173G>A ENST00000295731.5 - 3 991 c.992C>T c.(991-993)cCg>cTg p.P331L NM_002181.3 NP_002172.2 Q14623 IHH_HUMAN indian hedgehog 331 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTTTGTGAGCGGGGCGTAGGC 0.682000 10 45 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20559409 20559409 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:20559409C>T ENST00000329697.6 - 8 1241 c.1073G>A c.(1072-1074)cGa>cAa p.R358Q ACSM2B_ENST00000565322.1_Missense_Mutation_p.R279Q|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R358Q|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R358Q NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 358 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 ATAGAATTCTCGGATGTCCAG 0.502000 57 157 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35985753 35985753 + Missense_Mutation SNP C C G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:35985753C>G ENST00000297866.5 + 10 1684 c.1618C>G c.(1618-1620)Cgt>Ggt p.R540G NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 540 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 GCCTTCGATCCGTAATCCCAC 0.338000 11 13 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76912604 76912604 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:76912604G>A ENST00000409709.3 + 36 5236 c.4964G>A c.(4963-4965)aGg>aAg p.R1655K MYO7A_ENST00000409619.2_Missense_Mutation_p.R1606K|MYO7A_ENST00000458637.2_Missense_Mutation_p.R1617K NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1655 SH3. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ATCAATGAGAGGACCAAGCAG 0.607000 14 38 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117846693 117846693 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:117846693G>A ENST00000350763.4 - 4 2337 c.1926C>T c.(1924-1926)gcC>gcT p.A642A TNC_ENST00000341037.4_Silent_p.A642A|TNC_ENST00000535648.1_Silent_p.A642A|TNC_ENST00000423613.2_Silent_p.A642A|TNC_ENST00000537320.1_Silent_p.A642A|TNC_ENST00000340094.3_Silent_p.A642A|TNC_ENST00000345230.3_Silent_p.A642A|TNC_ENST00000542877.1_Silent_p.A642A|TNC_ENST00000346706.3_Silent_p.A642A NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 642 Fibronectin type-III 1. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 CATTGTCCCAGGCCAGGTTGA 0.557000 30 38 0 0 1 0 0 SIRPB2 284759 broad.mit.edu 37 20 1459234 1459234 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:1459234G>A ENST00000359801.3 - 3 506 c.470C>T c.(469-471)cCa>cTa p.P157L SIRPB2_ENST00000537284.1_Missense_Mutation_p.P19L|SIRPB2_ENST00000381630.1_Missense_Mutation_p.P59L|SIRPB2_ENST00000444444.1_Missense_Mutation_p.P59L NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 157 Ig-like V-type 2. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CCACAGGTCTGGTTCAGGGTC 0.557000 18 19 0 0 1 0 0 ZNF557 79230 broad.mit.edu 37 19 7082956 7082956 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:7082956C>T ENST00000414706.1 + 8 967 c.494C>T c.(493-495)tCt>tTt p.S165F ZNF557_ENST00000439035.2_Missense_Mutation_p.S158F|ZNF557_ENST00000252840.6_Missense_Mutation_p.S165F NM_001044387.1|NM_001044388.1|NM_024341.2 NP_001037852.1|NP_001037853.1|NP_077317.2 Q8N988 ZN557_HUMAN zinc finger protein 557 158 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 Lung(535;0.179) AGCACAAAATCTTCCCTTACA 0.403000 14 51 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100168359 100168359 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:100168359C>T ENST00000524871.1 + 19 2607 c.2317C>T c.(2317-2319)Ccg>Tcg p.P773S CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.P773S|CNTN5_ENST00000528682.1_Missense_Mutation_p.P773S|CNTN5_ENST00000279463.3_Missense_Mutation_p.P773S|CNTN5_ENST00000418526.2_Missense_Mutation_p.P699S NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 773 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ATCCACAGTTCCGAAGACAGC 0.423000 3 12 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46099233 46099233 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:46099233G>A ENST00000295452.4 - 2 405 c.238C>T c.(238-240)Cgt>Tgt p.R80C NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 80 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) ATATCTGGACGAAGTTTATTG 0.348000 27 70 0 0 1 0 0 FGL2 10875 broad.mit.edu 37 7 76828971 76828971 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:76828971C>T ENST00000248598.5 - 1 172 c.140G>A c.(139-141)gGg>gAg p.G47E CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron NM_006682.2 NP_006673.1 Q14314 FGL2_HUMAN fibrinogen-like 2 47 signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 TTCGCATTTCCCTCTGCTTTC 0.493000 56 75 0 0 1 0 0 SERPINA4 5267 broad.mit.edu 37 14 95033383 95033383 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:95033383G>A ENST00000557004.1 + 3 1147 c.726G>A c.(724-726)cgG>cgA p.R242R SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Silent_p.R242R|SERPINA4_ENST00000298841.5_Silent_p.R242R P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 242 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CAACAGTCCGGGTGCCCATGA 0.502000 19 40 0 0 1 0 0 CYP19A1 1588 broad.mit.edu 37 15 51507363 51507363 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:51507363C>T ENST00000396402.1 - 8 1078 c.925G>A c.(925-927)Gac>Aac p.D309N CYP19A1_ENST00000559878.1_Missense_Mutation_p.D309N|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Missense_Mutation_p.D309N|CYP19A1_ENST00000260433.2_Missense_Mutation_p.D309N NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 309 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) GACATGGTGTCAGGAGCTGCG 0.398000 16 55 0 0 1 0 0 IGBP1 3476 broad.mit.edu 37 X 69370143 69370143 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:69370143C>T ENST00000342206.6 + 5 1341 c.842C>T c.(841-843)cCg>cTg p.P281L IGBP1_ENST00000356413.4_Missense_Mutation_p.P281L P78318 IGBP1_HUMAN immunoglobulin (CD79A) binding protein 1 281 B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction cytoplasm protein phosphatase type 2A regulator activity kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2) 11 GGAGCATTACCGGATCAGGGA 0.468000 8 16 0 0 1 0 0 VPS18 57617 broad.mit.edu 37 15 41192313 41192313 + Missense_Mutation SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:41192313T>C ENST00000220509.5 + 4 1636 c.1297T>C c.(1297-1299)Tgc>Cgc p.C433R VPS18_ENST00000558474.1_Intron NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 433 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GGCCGATTTCTGCTTTCGCCA 0.612000 32 102 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55955966 55955966 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:55955966G>A ENST00000263923.4 - 24 3491 c.3196C>T c.(3196-3198)Cgc>Tgc p.R1066C RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1066 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AAAGGGAGGCGAGCCTACAGG 0.433000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 25 98 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112176169 112176169 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:112176169C>T ENST00000457016.1 + 16 5258 c.4878C>T c.(4876-4878)ccC>ccT p.P1626P APC_ENST00000508376.2_Silent_p.P1626P|APC_ENST00000257430.4_Silent_p.P1626P|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1626 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GGTTGCAACCCCAAAAGCATG 0.463000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 31 142 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126336588 126336588 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:126336588C>T ENST00000394329.3 + 5 6483 c.6470C>T c.(6469-6471)gCt>gTt p.A2157V FAT4_ENST00000335110.5_Missense_Mutation_p.A455V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2157 Cadherin 21. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TTTGCACAAGCTTTGTATAAA 0.413000 20 51 0 0 1 0 0 ZNF527 84503 broad.mit.edu 37 19 37879460 37879460 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:37879460G>A ENST00000436120.2 + 5 616 c.509G>A c.(508-510)aGa>aAa p.R170K ZNF527_ENST00000587349.1_Intron NM_032453.1 NP_115829.1 Q8NB42 ZN527_HUMAN zinc finger protein 527 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AATTCTGGGAGAAGCATACCC 0.373000 16 56 0 0 1 0 0 PENK 5179 broad.mit.edu 37 8 57353893 57353893 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:57353893C>T ENST00000314922.3 - 2 818 c.742G>A c.(742-744)Gaa>Aaa p.E248K PENK_ENST00000451791.2_Missense_Mutation_p.E248K NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 248 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity p.E248K(1) central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) GAGTAACTTTCGCCTTCTTCG 0.502000 62 106 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33916057 33916057 + Missense_Mutation SNP C C G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:33916057C>G ENST00000389232.4 + 20 2477 c.2407C>G c.(2407-2409)Ccc>Gcc p.P803A RYR3_ENST00000415757.3_Missense_Mutation_p.P803A NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 803 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) GTTCCTGCCTCCCTCTGGCTA 0.423000 18 75 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124767006 124767006 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:124767006C>T ENST00000306534.3 - 2 707 c.222G>A c.(220-222)atG>atA p.M74I ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Intron NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 74 Ig-like C2-type 1. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CTGGGGGCACCATGCTCAGGG 0.677000 11 15 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9069895 9069895 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:9069895G>A ENST00000397910.4 - 3 17754 c.17551C>T c.(17551-17553)Cct>Tct p.P5851S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5853 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 GTTACAAAAGGAAAAGTGGAG 0.478000 38 149 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73482443 73482443 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:73482443G>A ENST00000314256.7 + 5 739 c.345G>A c.(343-345)cgG>cgA p.R115R KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000583795.1_3'UTR|KIAA0195_ENST00000375248.5_Silent_p.R125R NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 115 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TCATCGGGCGGCAAGACCGGC 0.597000 5 213 0 0 1 0 0 PEPD 5184 broad.mit.edu 37 19 34003558 34003558 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:34003558G>A ENST00000244137.6 - 2 175 c.142C>T c.(142-144)Ctg>Ttg p.L48L PEPD_ENST00000436370.3_Silent_p.L48L|PEPD_ENST00000397032.4_Silent_p.L48L NM_000285.3 NP_000276.2 P12955 PEPD_HUMAN peptidase D 48 cellular amino acid metabolic process|collagen catabolic process|proteolysis aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 17 Esophageal squamous(110;0.137) CCGCCCTGCAGGACCACGATG 0.662000 14 32 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28284054 28284054 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:28284054C>T ENST00000305242.5 - 2 110 c.18G>A c.(16-18)agG>agA p.R6R NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 6 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GCGTCAATTTCCTCAGAGCCA 0.483000 9 24 0 0 1 0 0 PKP3 11187 broad.mit.edu 37 11 397559 397559 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:397559C>T ENST00000331563.2 + 4 1041 c.965C>T c.(964-966)cCc>cTc p.P322L NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 322 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) ATTGACCTGCCCTCAGCAGTC 0.612000 15 72 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47897422 47897422 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:47897422G>A ENST00000289672.2 - 28 4421 c.4371C>T c.(4369-4371)ctC>ctT p.L1457L NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1457 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GGTTCAAAGAGAGACAACCCT 0.463000 17 37 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55212937 55212937 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:55212937G>A ENST00000447346.2 + 15 2349 c.2284G>A c.(2284-2286)Gga>Aga p.G762R IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000490985.1_Missense_Mutation_p.G620R NM_001242636.1|NM_139017.5 NP_001229565.1|NP_620586.3 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 730 anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) GCACACCAAGGGAGAAGTCTA 0.502000 19 68 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150526119 150526119 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:150526119G>A ENST00000271643.4 + 6 888 c.652G>A c.(652-654)Gaa>Aaa p.E218K ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.E218K|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.E218K|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.E218K|RP11-54A4.2_ENST00000442435.2_RNA NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 218 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CCCTCCCACAGAACTGTCTGT 0.602000 25 166 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38877373 38877373 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:38877373G>A ENST00000359357.3 + 63 9196 c.8942G>A c.(8941-8943)tGg>tAg p.W2981* DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W2945*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.W3198* dynein, axonemal, heavy chain 8 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 TTCAGCCGCTGGCCAAGGGAG 0.448000 18 74 0 0 1 0 0 APOBEC3G 60489 broad.mit.edu 37 22 39475066 39475066 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:39475066G>A ENST00000407997.3 + 2 504 c.147G>A c.(145-147)ttG>ttA p.L49L APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Silent_p.L49L NM_021822.3 NP_068594.1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1) 12 Melanoma(58;0.04) GGCCCCCTTTGGACGCAAAGA 0.507000 12 54 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11468727 11468727 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:11468727G>A ENST00000423059.3 - 14 3341 c.3090C>T c.(3088-3090)atC>atT p.I1030I AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1030 TSP type-1 10. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) AGGGGCAGGGGATGATGCAGG 0.532000 HNSCC(18;0.044) 53 98 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70942628 70942628 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:70942628C>T ENST00000393567.2 - 48 8291 c.8141G>A c.(8140-8142)gGa>gAa p.G2714E NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2714 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) GGAAATGGTTCCAGCAGGTTC 0.502000 5 13 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3887648 3887648 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:3887648G>A ENST00000319331.3 + 2 2084 c.1323G>A c.(1321-1323)acG>acA p.T441T SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 441 Ig-like C2-type. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) ATATCGGCACGACGGTTTTCC 0.458000 19 60 0 0 1 0 0 SLC6A4 6532 broad.mit.edu 37 17 28544292 28544292 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:28544292C>T ENST00000401766.2 - 5 1241 c.729G>A c.(727-729)aaG>aaA p.K243K SLC6A4_ENST00000261707.3_Silent_p.K243K P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 243 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) CCTGGAGCCCCTTAGACCGGT 0.582000 36 96 0 0 1 0 0 SH3YL1 26751 broad.mit.edu 37 2 229993 229993 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:229993G>A ENST00000403657.1 - 11 2661 c.466C>T c.(466-468)Cca>Tca p.P156S SH3YL1_ENST00000356150.5_Missense_Mutation_p.P252S|SH3YL1_ENST00000403658.1_Missense_Mutation_p.P156S|SH3YL1_ENST00000468321.1_5'UTR|SH3YL1_ENST00000415006.2_Missense_Mutation_p.P156S|SH3YL1_ENST00000403712.2_Missense_Mutation_p.P252S|SH3YL1_ENST00000405430.1_Missense_Mutation_p.P252S Q96HL8 SH3Y1_HUMAN SH3 and SYLF domain containing 1 252 large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 7 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.034) all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148) AGCTGGACTGGTGCAGATGAC 0.313000 14 47 0 0 1 0 0 IFNLR1 163702 broad.mit.edu 37 1 24483662 24483662 + Silent SNP G G C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:24483662G>C ENST00000327535.1 - 7 1533 c.1521C>G c.(1519-1521)acC>acG p.T507T IFNLR1_ENST00000374421.3_Silent_p.T478T|IFNLR1_ENST00000327575.2_3'UTR NM_170743.3|NM_173064.2 NP_734464.1|NP_775087.1 interferon, lambda receptor 1 CCCTGTCCTCGGTCCTCTGGG 0.612000 12 58 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321255 79321255 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:79321255C>T ENST00000428286.1 - 8 6058 c.4858G>A c.(4858-4860)Gaa>Aaa p.E1620K PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1979K Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1979 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CAACTATTTTCCTCTGCGTGA 0.433000 47 58 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179410839 179410839 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:179410839G>A ENST00000589042.1 - 343 95348 c.95124C>T c.(95122-95124)tcC>tcT p.S31708S TTN_ENST00000342175.6_Silent_p.S22835S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.S29140S|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.S22768S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.S30067S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.S22643S|TTN-AS1_ENST00000586707.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30067 Fibronectin type-III 130. 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) ATGGGCCAGGGGAATCTGAAA 0.473000 13 55 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34558811 34558811 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:34558811G>A ENST00000374789.3 - 22 3527 c.3202C>T c.(3202-3204)Cga>Tga p.R1068* PARD3_ENST00000374790.3_Nonsense_Mutation_p.R1008*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.R1022*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.R1031*|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374794.3_Nonsense_Mutation_p.R956*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.R1052*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.R978*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.R1065* NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 1068 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) CTAAATTCTCGAGTTTTGGCT 0.368000 8 16 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14859208 14859208 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:14859208G>A ENST00000380881.4 - 5 1419 c.604C>T c.(604-606)Cag>Tag p.Q202* FREM1_ENST00000422223.2_Nonsense_Mutation_p.Q202*|FREM1_ENST00000380880.3_Nonsense_Mutation_p.Q202* Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 202 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding p.Q202*(1) breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CTGTGTGGCTGATCTCCACGA 0.517000 19 24 0 0 1 0 0 INSIG1 3638 broad.mit.edu 37 7 155093324 155093324 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:155093324C>T ENST00000340368.4 + 3 672 c.461C>T c.(460-462)cCc>cTc p.P154L INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_Intron NM_005542.4 NP_005533.2 O15503 INSI1_HUMAN insulin induced gene 1 154 cell proliferation|ER-nuclear sterol response pathway endoplasmic reticulum membrane|integral to membrane protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 19 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCGGAGAACCCCACAAATTT 0.438000 17 174 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72193565 72193565 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:72193565G>A ENST00000356056.5 - 23 3589 c.3117C>T c.(3115-3117)ttC>ttT p.F1039F MYO9A_ENST00000444904.1_Silent_p.F1020F|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Silent_p.F659F|MYO9A_ENST00000564571.1_Silent_p.F1039F|MYO9A_ENST00000424560.1_Silent_p.F1039F NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1039 IQ 1.|Neck or regulatory domain. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TCAGATGGAGGAAATGCTGCC 0.443000 13 35 0 0 1 0 0 OR8D1 283159 broad.mit.edu 37 11 124179743 124179743 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:124179743C>T ENST00000357821.2 - 1 990 c.920G>A c.(919-921)gGa>gAa p.G307E NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) GACTCATTTTCCTACTAAGAC 0.368000 11 20 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216230322 216230322 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:216230322C>T ENST00000354785.4 - 43 7419 c.7050G>A c.(7048-7050)aaG>aaA p.K2350K FN1_ENST00000432072.2_Silent_p.K2140K|FN1_ENST00000356005.4_Silent_p.K2169K|FN1_ENST00000357867.4_Silent_p.K2049K|FN1_ENST00000346544.3_Silent_p.K2084K|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000443816.1_Silent_p.K2138K|FN1_ENST00000446046.1_Silent_p.K2203K|FN1_ENST00000345488.5_Silent_p.K2057K|FN1_ENST00000359671.1_Silent_p.K2259K|FN1_ENST00000336916.4_Silent_p.K2228K|FN1_ENST00000421182.1_Silent_p.K2113K|FN1_ENST00000323926.6_Silent_p.K2319K P02751 FINC_HUMAN fibronectin 1 2259 acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTCTCCAATCTTGTAGTTCA 0.463000 25 92 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40318550 40318550 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:40318550G>A ENST00000264661.3 - 10 1937 c.1605C>T c.(1603-1605)ttC>ttT p.F535F KCNH4_ENST00000607371.1_Silent_p.F535F NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 535 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) GCTCGTCTGGGAAGTCACGCA 0.562000 24 44 0 0 1 0 0 ASIC1 41 broad.mit.edu 37 12 50474461 50474461 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:50474461C>T ENST00000228468.4 + 9 1771 c.1386C>T c.(1384-1386)tcC>tcT p.S462S ASIC1_ENST00000552438.1_Intron|ASIC1_ENST00000447966.2_Intron NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 433 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CACTTCTGTCCCATGAGGGTC 0.572000 6 20 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111981904 111981904 + Missense_Mutation SNP A A G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:111981904A>G ENST00000305815.5 - 10 1316 c.1064T>C c.(1063-1065)gTt>gCt p.V355A SLC9C1_ENST00000487372.1_Missense_Mutation_p.V307A NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 355 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity CTCATGACCAACTCGAGACAA 0.368000 10 67 0 0 1 0 0 F2RL1 2150 broad.mit.edu 37 5 76128663 76128663 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:76128663C>T ENST00000296677.4 + 2 437 c.231C>T c.(229-231)ttC>ttT p.F77F NM_005242.4 NP_005233.3 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 77 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) CCACTGTCTTCCTTCCAATTG 0.468000 35 116 0 0 1 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74904576 74904576 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:74904576C>T ENST00000289575.5 + 9 1784 c.1389C>T c.(1387-1389)atC>atT p.I463I SLCO2B1_ENST00000341411.4_Silent_p.I236I|SLCO2B1_ENST00000454962.2_Silent_p.I236I|SLCO2B1_ENST00000428359.2_Silent_p.I441I|SLCO2B1_ENST00000532236.1_Silent_p.I347I|SLCO2B1_ENST00000525650.1_Silent_p.I319I|SLCO2B1_ENST00000531756.1_Silent_p.I208I NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 463 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) TCTTCTTTATCGGCTGCTCCA 0.627000 7 28 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11732252 11732252 + Missense_Mutation SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:11732252T>C ENST00000304623.8 - 2 359 c.170A>G c.(169-171)gAa>gGa p.E57G CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.E57G NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 57 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TTCTACCTGTTCTTTGACTGA 0.423000 20 106 0 0 1 0 0 CFHR2 3080 broad.mit.edu 37 1 196918720 196918720 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:196918720C>T ENST00000367415.4 + 2 308 c.194C>T c.(193-195)tCc>tTc p.S65F CFHR2_ENST00000367421.3_Missense_Mutation_p.S65F|CFHR2_ENST00000476712.1_3'UTR NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 65 Sushi 1. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 CCTTCAAAATCCTTTTGGACT 0.378000 38 35 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52469455 52469455 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:52469455C>T ENST00000356297.4 - 4 425 c.325G>A c.(325-327)Gaa>Aaa p.E109K PXDNL_ENST00000543296.1_Missense_Mutation_p.E109K NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 109 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) GCATGGATTTCATTCTTATAC 0.279000 10 24 0 0 1 0 0 CDH24 64403 broad.mit.edu 37 14 23517517 23517517 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:23517517G>A ENST00000397359.3 - 13 2391 c.2132C>T c.(2131-2133)cCc>cTc p.P711L CDH24_ENST00000554034.1_Missense_Mutation_p.P673L|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000267383.5_Missense_Mutation_p.P711L|CDH24_ENST00000487137.2_Missense_Mutation_p.P673L NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 711 adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) gggcgccgggggggccgcccc 0.761000 20 81 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60813545 60813545 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:60813545G>A ENST00000544856.2 - 7 2059 c.1681C>T c.(1681-1683)Ctc>Ttc p.L561F RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.L562F|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.L600F|MARCH10_ENST00000311269.5_Missense_Mutation_p.L562F Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 562 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 TTTAGTAAGAGATCTGTATAT 0.443000 47 97 0 0 1 0 0 MRPL40 64976 broad.mit.edu 37 22 19423218 19423218 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:19423218G>A ENST00000333130.3 + 4 1007 c.354G>A c.(352-354)ctG>ctA p.L118L MRPL40_ENST00000471259.1_3'UTR|HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron NM_003776.2 NP_003767.2 Q9NQ50 RM40_HUMAN mitochondrial ribosomal protein L40 118 anatomical structure morphogenesis mitochondrial ribosome|nucleus endometrium(1)|upper_aerodigestive_tract(1) 2 Colorectal(54;0.0993) CTCTGCTTCTGAAGAAGTGGT 0.527000 96 182 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5283195 5283195 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:5283195G>A ENST00000546004.1 - 3 892 c.646C>T c.(646-648)Cag>Tag p.Q216* PROKR2_ENST00000217270.3_Nonsense_Mutation_p.Q216* Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 216 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 TAGAGCTGCTGATCCACAGGC 0.522000 HNSCC(71;0.22) 52 100 0 0 1 0 0 ZNF473 25888 broad.mit.edu 37 19 50544992 50544992 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:50544992C>T ENST00000595661.1 + 5 637 c.142C>T c.(142-144)Cca>Tca p.P48S ZNF473_ENST00000445728.3_Missense_Mutation_p.P36S|ZNF473_ENST00000391821.2_Missense_Mutation_p.P48S|ZNF473_ENST00000601364.1_Missense_Mutation_p.P48S|ZNF473_ENST00000270617.3_Missense_Mutation_p.P48S Q8WTR7 ZN473_HUMAN zinc finger protein 473 48 KRAB. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) TGCAGACCCCCCAAGACCCAA 0.567000 22 78 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3441294 3441294 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:3441294C>T ENST00000344733.5 + 18 5131 c.4227C>T c.(4225-4227)ggC>ggT p.G1409G RGS12_ENST00000338806.4_Silent_p.G761G NM_198229.2 NP_937872.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1409 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CACAGGCTGGCCCTGGGAGGT 0.662000 13 41 0 0 1 0 0 KLHDC7B 113730 broad.mit.edu 37 22 50987520 50987520 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:50987520C>T ENST00000395676.2 + 1 1059 c.925C>T c.(925-927)Cct>Tct p.P309S NM_138433.3 NP_612442.2 Q96G42 KLD7B_HUMAN kelch domain containing 7B 309 central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 14 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CGAGGAGCCTCCTGCGGCGGC 0.746000 52 66 0 0 1 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45522840 45522840 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr21:45522840C>T ENST00000291574.4 + 22 3703 c.3528C>T c.(3526-3528)tcC>tcT p.S1176S NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 1176 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 CACACTCCTCCCAACTGGACG 0.522000 20 72 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168180967 168180967 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:168180967G>A ENST00000519560.1 - 17 2150 c.1731C>T c.(1729-1731)ttC>ttT p.F577F SLIT3_ENST00000404867.3_Silent_p.F577F|SLIT3_ENST00000332966.8_Silent_p.F577F NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 577 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTGCTCCATCGAAAGCTCCCT 0.532000 8 17 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50535102 50535102 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:50535102G>A ENST00000267845.3 - 12 1746 c.1344C>T c.(1342-1344)ttC>ttT p.F448F HDC_ENST00000543581.1_Silent_p.F415F NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 448 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) ATGTCACAGTGAAACGGATGA 0.473000 13 45 0 0 1 0 0 TMX3 54495 broad.mit.edu 37 18 66378639 66378639 + Splice_Site SNP A A G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr18:66378639A>G ENST00000299608.2 - 3 419 c.101_splice c.e3-1 p.F35_splice TMX3_ENST00000443099.2_Splice_Site_p.F35_splice|TMX3_ENST00000562706.1_Splice_Site_p.F35_splice NM_019022.3 NP_061895.3 Q96JJ7 TMX3_HUMAN thioredoxin-related transmembrane protein 3 35 Thioredoxin. cell redox homeostasis|glycerol ether metabolic process endoplasmic reticulum membrane|integral to membrane electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 17 TTTTCTTTAAACCTAAAAAAC 0.279000 8 47 0 0 1 0 0 B4GALNT4 338707 broad.mit.edu 37 11 376690 376690 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:376690C>T ENST00000329962.6 + 14 1567 c.1567C>T c.(1567-1569)Cca>Tca p.P523S NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 523 Pro-rich. Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCAGCCGCCCCCAAAGGTGTA 0.771000 3 3 0 0 1 0 0 CPA4 51200 broad.mit.edu 37 7 129946681 129946681 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:129946681G>A ENST00000222482.4 + 7 674 c.646G>A c.(646-648)Gat>Aat p.D216N CPA4_ENST00000445470.2_Missense_Mutation_p.D183N|CPA4_ENST00000493259.1_Missense_Mutation_p.D112N NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 216 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) GGAGAAAATGGATATTTTCTT 0.448000 5 90 0 0 1 0 0 PITX2 5308 broad.mit.edu 37 4 111539771 111539771 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:111539771C>T ENST00000394595.3 - 4 513 c.258G>A c.(256-258)tgG>tgA p.W86* PITX2_ENST00000394598.2_Missense_Mutation_p.G155D|PITX2_ENST00000355080.5_Missense_Mutation_p.G109D|PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000306732.3_Missense_Mutation_p.G162D|PITX2_ENST00000354925.2_Missense_Mutation_p.G155D Q99697 PITX2_HUMAN paired-like homeodomain 2 179 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) CGGCCCGAAGCCATTCTTGCA 0.592000 19 68 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152826144 152826144 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:152826144C>T ENST00000370186.1 + 17 3134 c.2808C>T c.(2806-2808)ttC>ttT p.F936F ATP2B3_ENST00000263519.4_Silent_p.F950F|ATP2B3_ENST00000393842.1_Silent_p.F936F|ATP2B3_ENST00000349466.2_Silent_p.F950F|ATP2B3_ENST00000359149.3_Silent_p.F950F|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000370181.2_Silent_p.F936F Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 950 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGAGCTCTTCTTCGACATCG 0.552000 14 17 0 0 1 0 0 RNF150 57484 broad.mit.edu 37 4 141889014 141889014 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:141889014G>A ENST00000306799.3 - 2 1151 c.498C>T c.(496-498)atC>atT p.I166I RNF150_ENST00000379512.2_Silent_p.I25I|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000515673.1_Silent_p.I166I|RNF150_ENST00000420921.2_Silent_p.I25I|RNF150_ENST00000507500.1_Silent_p.I166I NM_020724.1 NP_065775.1 Q9ULK6 RN150_HUMAN ring finger protein 150 166 PA. integral to membrane zinc ion binding p.I75I(1) breast(1)|large_intestine(10)|lung(7)|ovary(1) 19 all_hematologic(180;0.162) TTATGGCCACGATGTCTTCTA 0.488000 12 70 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873937 36873937 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:36873937C>T ENST00000301807.6 - 21 7252 c.5355G>A c.(5353-5355)agG>agA p.R1785R TRANK1_ENST00000428977.2_Silent_p.R1785R|TRANK1_ENST00000429976.2_Silent_p.R2335R NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2335 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TTCCTTTTATCCTGCTGCCTC 0.488000 20 98 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255890 140255890 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140255890C>T ENST00000398631.2 + 1 833 c.833C>T c.(832-834)tCc>tTc p.S278F PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 p.S278F(2) NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGAAATTTCCTATGGGATC 0.368000 34 117 0 0 1 0 0 BOP1 23246 broad.mit.edu 37 8 145512977 145512977 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:145512977G>A ENST00000307404.5 - 2 137 c.108C>T c.(106-108)ctC>ctT p.L36L BOP1_ENST00000529231.1_5'UTR NM_015201.3 NP_056016.1 Q14137 BOP1_HUMAN block of proliferation 1 36 cell proliferation|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle nucleoplasm|PeBoW complex protein binding lung(1)|urinary_tract(2) 3 all_cancers(97;4.06e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;2.61e-39)|all cancers(56;1.37e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.087) AGGTGCAGAGGAGGGGGGGCT 0.632000 9 21 0 0 1 0 0 ERCC4 2072 broad.mit.edu 37 16 14029594 14029594 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:14029594C>T ENST00000311895.7 + 8 1814 c.1805C>T c.(1804-1806)cCt>cTt p.P602L NM_005236.2 NP_005227.1 Q92889 XPF_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 4 602 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 CCTGGGAAACCTCTGAGGCAA 0.418000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 17 65 0 0 1 0 0 SLC7A11 23657 broad.mit.edu 37 4 139140442 139140442 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:139140442C>T ENST00000280612.5 - 5 1003 c.724G>A c.(724-726)Gga>Aga p.G242R NM_014331.3 NP_055146.1 Q9UPY5 XCT_HUMAN solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 242 blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) GCATACATTCCATAATAAAAA 0.403000 21 61 0 0 1 0 0 CPA1 1357 broad.mit.edu 37 7 130021485 130021485 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:130021485G>A ENST00000011292.3 + 3 312 c.162G>A c.(160-162)cgG>cgA p.R54R CPA1_ENST00000484324.1_5'UTR NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 54 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) ACTTCTGGCGGGGGCCTGCCC 0.682000 13 88 0 0 1 0 0 CAPN10 11132 broad.mit.edu 37 2 241535900 241535900 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:241535900C>T ENST00000391984.2 + 8 1639 c.1443C>T c.(1441-1443)ttC>ttT p.F481F CAPN10_ENST00000404753.3_Silent_p.F481F|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000352879.4_Intron NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 481 Domain III 1. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) CAGGGGAGTTCCTGCTCCGAG 0.637000 11 49 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42718841 42718841 + Missense_Mutation SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:42718841T>C ENST00000230882.4 + 10 1422 c.1232T>C c.(1231-1233)gTt>gCt p.V411A GHR_ENST00000357703.3_Missense_Mutation_p.V389A|GHR_ENST00000537449.1_Missense_Mutation_p.V224A|GHR_ENST00000513625.1_3'UTR NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 411 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ACCTCAGAGGTTGCTCAGCCA 0.478000 27 84 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96708988 96708988 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:96708988G>A ENST00000260682.6 + 5 778 c.766G>A c.(766-768)Gac>Aac p.D256N NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 256 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) AGAATCAATGGACATGAACAA 0.328000 20 65 0 0 1 0 0 UNC13B 10497 broad.mit.edu 37 9 35236569 35236569 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:35236569C>T ENST00000378495.3 + 4 478 c.256C>T c.(256-258)Cgt>Tgt p.R86C UNC13B_ENST00000396787.1_Missense_Mutation_p.R86C|UNC13B_ENST00000378496.4_Missense_Mutation_p.R86C NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 86 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GAAGACTATTCGTCAGTCGGA 0.498000 30 113 0 0 1 0 0 RAC1 5879 broad.mit.edu 37 7 6426893 6426893 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:6426893C>T ENST00000348035.4 + 2 299 c.86C>T c.(85-87)cCt>cTt p.P29L RAC1_ENST00000356142.4_Missense_Mutation_p.P29L|RAC1_ENST00000488373.1_3'UTR NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 29 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) AATGCATTTCCTGGAGAATAT 0.353000 24 34 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46655306 46655306 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:46655306C>T ENST00000253255.5 - 1 3913 c.3914G>A c.(3913-3915)cGa>cAa p.R1305Q NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1305 PLAT. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GCTAGGCGATCGACCCTCGTT 0.453000 52 71 0 0 1 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12942930 12942930 + Missense_Mutation SNP G G A rs76269416 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:12942930G>A ENST00000235349.5 - 2 356 c.286C>T c.(286-288)Cgt>Tgt p.R96C NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 96 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CACCTGGGACGAACCCCTAGG 0.622000 10 53 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11059101 11059101 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:11059101G>A ENST00000287766.4 + 3 625 c.204G>A c.(202-204)tgG>tgA p.W68* SLC6A1_ENST00000536032.1_Intron|SLC6A1_ENST00000462473.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 68 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) GCAACGTCTGGAGGTTCCCCT 0.622000 17 67 0 0 1 0 0 CLRN1 7401 broad.mit.edu 37 3 150645820 150645820 + Missense_Mutation SNP A A T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:150645820A>T ENST00000327047.1 - 3 892 c.602T>A c.(601-603)cTg>cAg p.L201Q RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000295911.2_Intron|RP11-166N6.3_ENST00000569170.1_Intron|CLRN1_ENST00000328863.4_Missense_Mutation_p.L214Q|CLRN1-AS1_ENST00000476886.1_RNA NM_174878.2 NP_777367.1 P58418 CLRN1_HUMAN clarin 1 201 equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound integral to membrane autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GAGCCCATTCAGAAAATGAAC 0.353000 19 43 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34763552 34763552 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:34763552C>T ENST00000338074.2 + 3 418 c.257C>T c.(256-258)tCg>tTg p.S86L EPB41L1_ENST00000373941.1_Missense_Mutation_p.S86L|EPB41L1_ENST00000441639.1_Missense_Mutation_p.S24L|EPB41L1_ENST00000373946.3_Missense_Mutation_p.S55L|EPB41L1_ENST00000202028.5_Missense_Mutation_p.S24L|EPB41L1_ENST00000373950.2_Missense_Mutation_p.S24L NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 86 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) GCCCAGAAATCGCCCCAGAAG 0.567000 13 66 0 0 1 0 0 APOBEC3G 60489 broad.mit.edu 37 22 39475067 39475067 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:39475067G>A ENST00000407997.3 + 2 505 c.148G>A c.(148-150)Gac>Aac p.D50N APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.D50N NM_021822.3 NP_068594.1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1) 12 Melanoma(58;0.04) GCCCCCTTTGGACGCAAAGAT 0.502000 11 53 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76893017 76893017 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:76893017G>A ENST00000409709.3 + 24 3197 c.2925G>A c.(2923-2925)agG>agA p.R975R MYO7A_ENST00000409619.2_Silent_p.R964R|MYO7A_ENST00000458637.2_Silent_p.R975R|MYO7A_ENST00000409893.1_Silent_p.R975R NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 975 actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GAGGGCGGAGGGAGATGGTGG 0.597000 17 79 0 0 1 0 0 MYL7 58498 broad.mit.edu 37 7 44178582 44178582 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:44178582C>T ENST00000458240.1 - 6 673 c.385G>A c.(385-387)Ggg>Agg p.G129R MYL7_ENST00000223364.3_Missense_Mutation_p.G156R|MYL7_ENST00000434895.1_5'UTR Q01449 MLRA_HUMAN myosin, light chain 7, regulatory 156 EF-hand 2. actin filament-based movement|smooth muscle contraction A band|myosin complex ATPase activity, coupled|calcium ion binding|microfilament motor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 12 TCGATGTTCCCCGCCAGGTCC 0.622000 10 78 0 0 1 0 0 ACO1 48 broad.mit.edu 37 9 32430468 32430468 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:32430468G>A ENST00000379923.1 + 15 1828 c.1622G>A c.(1621-1623)cGa>cAa p.R541Q ACO1_ENST00000309951.5_Missense_Mutation_p.R541Q|ACO1_ENST00000541043.1_Missense_Mutation_p.R442Q NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble 541 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) TTTGAAGGTCGAGTTCACCCC 0.453000 28 111 0 0 1 0 0 SNX8 29886 broad.mit.edu 37 7 2302895 2302895 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:2302895G>A ENST00000222990.3 - 7 927 c.885C>T c.(883-885)ttC>ttT p.F295F NM_013321.2 NP_037453.1 Q9Y5X2 SNX8_HUMAN sorting nexin 8 295 cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3) 26 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) CGAGCAGCGCGAATTCCACAG 0.617000 27 42 0 0 1 0 0 PRMT1 3276 broad.mit.edu 37 19 50189399 50189399 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:50189399C>T ENST00000532489.1 + 9 1177 c.671C>T c.(670-672)cCg>cTg p.P224L PRMT1_ENST00000454376.2_Missense_Mutation_p.P270L|PRMT1_ENST00000391851.4_Missense_Mutation_p.P252L Q8WUW5 Q8WUW5_HUMAN protein arginine methyltransferase 1 251 cytoplasm protein methyltransferase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2) 12 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;0.00103)|GBM - Glioblastoma multiforme(134;0.012) TTCACCTCCCCGTTCTGCCTG 0.592000 15 35 0 0 1 0 0 RIC8B 55188 broad.mit.edu 37 12 107237692 107237692 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:107237692C>T ENST00000392837.4 + 6 1279 c.1128C>T c.(1126-1128)gcC>gcT p.A376A RIC8B_ENST00000355478.2_Silent_p.A336A|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392839.2_Silent_p.A376A Q9NVN3 RIC8B_HUMAN RIC8 guanine nucleotide exchange factor B 376 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 19 GTTCCCGAGCCCATCGAAACA 0.333000 9 48 0 0 1 0 0 REPS2 9185 broad.mit.edu 37 X 17095492 17095492 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:17095492C>T ENST00000357277.3 + 13 1649 c.1478C>T c.(1477-1479)tCc>tTc p.S493F REPS2_ENST00000303843.7_Missense_Mutation_p.S492F|REPS2_ENST00000469714.1_Intron|REPS2_ENST00000380064.4_Intron NM_001080975.1|NM_004726.2 NP_001074444.1|NP_004717.2 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 493 Pro-rich. epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1) 17 Hepatocellular(33;0.183) AGAGCCTCCTCCTTGGATCTG 0.572000 23 34 0 0 1 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917949 48917949 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:48917949G>A ENST00000311378.4 + 2 1828 c.1300G>A c.(1300-1302)Gag>Aag p.E434K RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E341K NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 434 BPTI/Kunitz inhibitor 2. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) GGCCTGTGAGGAGTCGTGCCC 0.617000 17 93 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73849624 73849624 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:73849624C>T ENST00000523207.1 + 3 2622 c.2034C>T c.(2032-2034)ctC>ctT p.L678L NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 678 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.L678L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CTGTGAACCTCGATGCCAGTG 0.542000 36 56 0 0 1 0 0 KLK7 5650 broad.mit.edu 37 19 51480881 51480881 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:51480881G>A ENST00000391807.1 - 6 774 c.673C>T c.(673-675)Cct>Tct p.P225S KLK7_ENST00000595820.1_Missense_Mutation_p.P225S|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000336317.4_Missense_Mutation_p.P112S|KLK7_ENST00000597707.1_Missense_Mutation_p.P153S NM_139277.2 NP_644806.1 P49862 KLK7_HUMAN kallikrein-related peptidase 7 225 Peptidase S1. epidermis development|proteolysis extracellular region serine-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) TGGCCGCAAGGGAAAGTTCCC 0.527000 18 77 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24923763 24923763 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:24923763G>A ENST00000329468.2 + 1 3223 c.2749G>A c.(2749-2751)Ggg>Agg p.G917R NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TTTTATTCTGGGGAATCCAGC 0.478000 29 109 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150554639 150554639 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:150554639G>A ENST00000493429.1 + 4 1665 c.1081G>A c.(1081-1083)Gga>Aga p.G361R AOC1_ENST00000360937.4_Missense_Mutation_p.G361R|AOC1_ENST00000467291.1_Missense_Mutation_p.G361R|AOC1_ENST00000416793.2_Missense_Mutation_p.G361R amine oxidase, copper containing 1 GCTGTATGGAGGACACACACC 0.642000 46 128 0 0 1 0 0 NLGN2 57555 broad.mit.edu 37 17 7318372 7318372 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:7318372G>A ENST00000302926.2 + 5 1015 c.942G>A c.(940-942)aaG>aaA p.K314K NLGN2_ENST00000575301.1_Silent_p.K314K NM_020795.2 NP_065846.1 Q8NFZ4 NLGN2_HUMAN neuroligin 2 314 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) TGGCAGCCAAGGTGGGCTGTG 0.652000 17 62 0 0 1 0 0 APOM 55937 broad.mit.edu 37 6 31624327 31624327 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:31624327C>T ENST00000375916.3 + 2 689 c.193C>T c.(193-195)Cct>Tct p.P65S APOM_ENST00000375918.2_5'UTR|APOM_ENST00000375920.4_5'UTR NM_019101.2 NP_061974.2 O95445 APOM_HUMAN apolipoprotein M 65 cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle binding|lipid transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1) 7 AACTTTTGACCCTGTGGACAA 0.557000 26 144 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21783578 21783578 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:21783578C>T ENST00000382254.1 - 11 2368 c.1282G>A c.(1282-1284)Ggg>Agg p.G428R CDH12_ENST00000504376.2_Missense_Mutation_p.G428R|CDH12_ENST00000522262.1_Missense_Mutation_p.G388R|CDH12_ENST00000521384.1_5'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 428 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TAGCTGTCCCCATCACTCTTC 0.373000 HNSCC(59;0.17) 24 103 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73727395 73727395 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:73727395C>T ENST00000200181.3 + 10 1348 c.1161C>T c.(1159-1161)tcC>tcT p.S387S ITGB4_ENST00000339591.3_Silent_p.S387S|ITGB4_ENST00000449880.2_Silent_p.S387S|ITGB4_ENST00000450894.3_Silent_p.S387S|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Silent_p.S387S NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 387 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) AGGTCACCTCCAAGATGTTCC 0.637000 25 100 0 0 1 0 0 OR56B1 387748 broad.mit.edu 37 11 5758566 5758566 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:5758566G>A ENST00000317121.3 + 1 886 c.820G>A c.(820-822)Gag>Aag p.E274K TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) TCATCTGACAGAGATGAAGGC 0.438000 55 216 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47556871 47556871 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:47556871C>T ENST00000273859.3 + 11 2033 c.1764C>T c.(1762-1764)ttC>ttT p.F588F NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 588 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 TCGACTTTTTCATTGCATTGG 0.403000 16 74 0 0 1 0 0 PDS5A 23244 broad.mit.edu 37 4 39891957 39891957 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:39891957G>A ENST00000303538.8 - 17 2337 c.1798C>T c.(1798-1800)Cct>Tct p.P600S NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 600 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding p.P600S(1) breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 GGTTGCTTAGGATTTGCAAGT 0.358000 3 7 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7494463 7494463 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:7494463G>A ENST00000486284.1 + 6 1618 c.1344G>A c.(1342-1344)ttG>ttA p.L448L GRM7_ENST00000403881.1_Silent_p.L448L|GRM7_ENST00000402647.2_Silent_p.L448L|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.L448L|GRM7_ENST00000357716.4_Silent_p.L448L NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 448 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GCAAGAAGTTGCTGAAGTATA 0.438000 6 17 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150348569 150348569 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:150348569G>A ENST00000218316.3 + 2 583 c.514G>A c.(514-516)Gat>Aat p.D172N NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 172 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CATCGAGTACGATCCTCGCAC 0.527000 37 49 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62076610 62076610 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:62076610C>T ENST00000354587.3 - 3 671 c.495G>A c.(493-495)cgG>cgA p.R165R KCNQ2_ENST00000370226.1_Silent_p.R165R|KCNQ2_ENST00000360480.3_Silent_p.R165R|KCNQ2_ENST00000370221.1_Silent_p.R165R|KCNQ2_ENST00000344425.5_Silent_p.R165R|KCNQ2_ENST00000359689.1_Silent_p.R165R|KCNQ2_ENST00000370222.3_Silent_p.R165R|KCNQ2_ENST00000344462.3_Silent_p.R165R|KCNQ2_ENST00000357249.2_Silent_p.R165R|KCNQ2_ENST00000370224.1_Silent_p.R165R|KCNQ2_ENST00000430658.1_Silent_p.R165R|KCNQ2_ENST00000359125.2_Silent_p.R165R O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 165 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) AGAACGGTTTCCGGGCAAACT 0.647000 13 83 0 0 1 0 0 ZNF16 7564 broad.mit.edu 37 8 146157628 146157628 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:146157628G>A ENST00000276816.4 - 4 731 c.545C>T c.(544-546)cCa>cTa p.P182L ZNF16_ENST00000394909.2_Missense_Mutation_p.P182L NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) CATGTCATATGGATGTGGCCT 0.507000 66 135 0 0 1 0 0 C10orf128 170371 broad.mit.edu 37 10 50375042 50375042 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:50375042G>A ENST00000374148.1 - 3 164 c.110C>T c.(109-111)gCc>gTc p.A37V C10orf128_ENST00000470884.1_5'UTR|C10orf128_ENST00000374153.2_Missense_Mutation_p.A37V|C10orf128_ENST00000374151.3_Missense_Mutation_p.A37V|C10orf128_ENST00000474718.1_Missense_Mutation_p.A37V Q5T292 CJ128_HUMAN chromosome 10 open reading frame 128 37 integral to membrane breast(1)|large_intestine(1)|lung(1) 3 CCCGATGAGGGCGTACTTGAA 0.542000 14 42 0 0 1 0 0 GIF 2694 broad.mit.edu 37 11 59599192 59599192 + Missense_Mutation SNP G G C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:59599192G>C ENST00000541311.1 - 8 1310 c.1076C>G c.(1075-1077)aCa>aGa p.T359R GIF_ENST00000257248.2_Missense_Mutation_p.T384R P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 384 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 CTGCCAGTATGTCTTGTGATT 0.363000 19 61 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200880630 200880630 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:200880630C>T ENST00000367342.4 + 9 1464 c.1264C>T c.(1264-1266)Ccc>Tcc p.P422S C1orf106_ENST00000413687.2_Missense_Mutation_p.P337S NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 422 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CAGCGCCTTTCCCCGCCGCCG 0.662000 92 494 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58565265 58565265 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:58565265G>A ENST00000282326.1 + 6 1320 c.1073G>A c.(1072-1074)cGg>cAg p.R358Q NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 358 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AAGGGCCCCCGGGAGTCCGTC 0.662000 8 23 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160205548 160205548 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:160205548C>T ENST00000392783.2 - 29 5602 c.5107G>A c.(5107-5109)Gat>Aat p.D1703N BAZ2B_ENST00000392782.1_Missense_Mutation_p.D1667N|BAZ2B_ENST00000343439.5_Missense_Mutation_p.D1603N|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D1669N NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1703 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CTAGGAAAATCTACTGGTTTT 0.388000 12 70 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50475129 50475129 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:50475129C>T ENST00000602139.1 + 0 1075 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 ACGGCACATCCCTCCGGGTCC 0.657000 16 38 0 0 1 0 0 CAPN15 6650 broad.mit.edu 37 16 597451 597451 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:597451C>T ENST00000219611.2 + 4 976 c.613C>T c.(613-615)Ccc>Tcc p.P205S LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 ACCTGGCCTCCCCGGGGAAGG 0.741000 5 13 0 0 1 0 0 WHSC1 7468 broad.mit.edu 37 4 1957788 1957788 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:1957788C>T ENST00000382895.3 + 17 3185 c.2754C>T c.(2752-2754)ttC>ttT p.F918F WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Silent_p.F266F|WHSC1_ENST00000382891.5_Silent_p.F918F|WHSC1_ENST00000382892.2_Silent_p.F918F|WHSC1_ENST00000508803.1_Silent_p.F918F NM_133330.2 NP_579877.1 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 918 PWWP 2. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.F918F(2) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) TTGGAGAATTCCCTGTGTTTT 0.473000 T IGH@ MM 75 290 0 0 1 0 0 ZNF112 7665 broad.mit.edu 37 19 44833712 44833712 + Missense_Mutation SNP G G A rs144019017 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:44833712G>A ENST00000354340.4 - 4 649 c.598C>T c.(598-600)Cat>Tat p.H200Y ZNF112_ENST00000536500.1_Missense_Mutation_p.H223Y|ZNF112_ENST00000337401.4_Missense_Mutation_p.H206Y NM_013380.3 NP_037512.3 zinc finger protein 112 p.H200Y(1) TTACAGAAATGATTTTTCATG 0.393000 24 73 0 0 1 0 0 IGHV3-21 28444 broad.mit.edu 37 14 106691750 106691750 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:106691750C>T ENST00000390607.2 - 0 352 TTGGCGTTGTCTCTGGAGATG 0.517000 45 161 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53186570 53186570 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:53186570C>T ENST00000417996.2 - 4 1022 c.948G>A c.(946-948)atG>atA p.M316I KRT3_ENST00000309505.3_Missense_Mutation_p.M316I NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 316 Coil 1B.|Rod. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 CCACCTTGTTCATATAGGCAC 0.458000 51 197 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270918 1270918 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:1270918C>T ENST00000348261.5 + 35 7234 c.6986C>T c.(6985-6987)cCc>cTc p.P2329L CACNA1H_ENST00000565831.1_Missense_Mutation_p.P2323L|CACNA1H_ENST00000358590.4_Missense_Mutation_p.P2323L NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2329 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CTCACAGTCCCCCAGTGTCCT 0.677000 29 72 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47303197 47303197 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:47303197C>T ENST00000342922.4 + 8 1719 c.1362C>T c.(1360-1362)atC>atT p.I454I MADD_ENST00000395336.3_Silent_p.I454I|MADD_ENST00000407859.3_Silent_p.I454I|MADD_ENST00000311027.5_Silent_p.I454I|MADD_ENST00000406482.1_Silent_p.I454I|MADD_ENST00000402799.1_Silent_p.I454I|MADD_ENST00000349238.3_Silent_p.I454I|MADD_ENST00000395344.3_Silent_p.I454I|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000402192.2_Silent_p.I454I NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 454 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) GCCAGGAGATCCCCCTTCTCT 0.498000 17 33 0 0 1 0 0 ZNF101 94039 broad.mit.edu 37 19 19788737 19788737 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:19788737C>T ENST00000592502.1 + 2 178 c.68C>T c.(67-69)cCt>cTt p.P23L ZNF101_ENST00000444249.2_Missense_Mutation_p.P23L|ZNF101_ENST00000415784.2_5'UTR Q8IZC7 ZN101_HUMAN zinc finger protein 101 23 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1) 17 TTGCTGAGTCCTTCCCAGAAG 0.522000 27 87 0 0 1 0 0 FEZF1 389549 broad.mit.edu 37 7 121942231 121942231 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:121942231C>T ENST00000442488.2 - 4 1315 c.1248G>A c.(1246-1248)aaG>aaA p.K416K FEZF1_ENST00000427185.2_Silent_p.K366K|FEZF1_ENST00000331178.4_Silent_p.K412K NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 416 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 GGACATGCTTCTTGAGGTCAA 0.627000 39 183 0 0 1 0 0 ATG4D 84971 broad.mit.edu 37 19 10662728 10662728 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:10662728C>T ENST00000309469.4 + 8 1226 c.1053C>T c.(1051-1053)ttC>ttT p.F351F ATG4D_ENST00000540862.1_Silent_p.F18F NM_032885.4 NP_116274.3 Q86TL0 ATG4D_HUMAN autophagy related 4D, cysteine peptidase 351 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 19 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CAGATGACTTCCTGCTGTACC 0.642000 17 57 0 0 1 0 0 KCNG1 3755 broad.mit.edu 37 20 49621269 49621269 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:49621269G>A ENST00000371571.4 - 3 1134 c.849C>T c.(847-849)ttC>ttT p.F283F RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 283 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GCCGCAGGAGGAACTCCAGGG 0.642000 6 5 0 0 1 0 0 VPS28 51160 broad.mit.edu 37 8 145649348 145649348 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:145649348G>A ENST00000377348.2 - 9 713 c.624C>T c.(622-624)ccC>ccT p.P208P VPS28_ENST00000292510.4_Intron|VPS28_ENST00000526054.1_Intron|VPS28_ENST00000529182.1_Silent_p.P208P NM_183057.1 NP_898880.1 Q9UK41 VPS28_HUMAN vacuolar protein sorting 28 homolog (S. cerevisiae) 0 VPS28 C-terminal. cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport cytosol|late endosome membrane|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) AGGGCCTCAGGGGCACTGCGG 0.706000 45 99 0 0 1 0 0 C17orf47 284083 broad.mit.edu 37 17 56620793 56620793 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:56620793G>A ENST00000321691.3 - 1 936 c.755C>T c.(754-756)cCt>cTt p.P252L RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 252 p.P252L(1) NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGGACCGTAAGGACCTGTTTC 0.478000 20 144 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28233806 28233806 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:28233806C>T ENST00000305242.5 - 11 1564 c.1472G>A c.(1471-1473)aGa>aAa p.R491K ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_Missense_Mutation_p.R16K|ARMC4_ENST00000537576.1_Missense_Mutation_p.R183K NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 491 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TCCAACATCTCTGATGGCCAA 0.458000 21 68 0 0 1 0 0 DEFB128 245939 broad.mit.edu 37 20 168662 168662 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:168662C>T ENST00000334391.4 - 2 204 c.147G>A c.(145-147)ggG>ggA p.G49G NM_001037732.1 NP_001032821.1 Q7Z7B8 DB128_HUMAN defensin, beta 128 49 defense response to bacterium extracellular region breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_cancers(10;0.00499)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.122) AACATAATTTCCCACTTAGAC 0.388000 76 145 0 0 1 0 0 LHX6 26468 broad.mit.edu 37 9 124971981 124971981 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:124971981C>T ENST00000559895.1 - 6 1300 c.422G>A c.(421-423)gGg>gAg p.G141E LHX6_ENST00000541397.2_Intron|LHX6_ENST00000340587.3_Intron|LHX6_ENST00000394319.4_Missense_Mutation_p.G357E|LHX6_ENST00000373755.2_Missense_Mutation_p.G328E|LHX6_ENST00000464484.2_Intron|LHX6_ENST00000482062.1_Missense_Mutation_p.G15E|LHX6_ENST00000373754.2_Intron NM_001242335.1 NP_001229264.1 Q9UPM6 LHX6_HUMAN LIM homeobox 6 328 LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity). cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5) 8 gtgcacctgcccgcactgtac 0.637000 14 38 0 0 1 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26883577 26883577 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:26883577C>T ENST00000374168.2 + 13 1224 c.1070C>T c.(1069-1071)tCc>tTc p.S357F RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S341F|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.S265F|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.S265F|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S346F|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S366F NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 357 AGC-kinase C-terminal. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) GAGTTCACGTCCCGCACACCC 0.577000 20 61 0 0 1 0 0 C12orf36 283422 broad.mit.edu 37 12 13526360 13526360 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:13526360C>T ENST00000318426.2 - 3 412 c.195G>A c.(193-195)ggG>ggA p.G65G C12orf36_ENST00000527705.2_Silent_p.G65G chromosome 12 open reading frame 36 lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) ATTCCTCATTCCCAAATCTGT 0.458000 7 38 0 0 1 0 0 OR2A7 401427 broad.mit.edu 37 7 143956672 143956672 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:143956672G>A ENST00000493325.1 - 1 143 c.50C>T c.(49-51)cCc>cTc p.P17L ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000461843.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA NM_001005328.1 NP_001005328.1 Q96R45 OR2A7_HUMAN olfactory receptor, family 2, subfamily A, member 7 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 6 Melanoma(164;0.14) TGGGCCAACGGGAAATCCCAG 0.498000 59 270 0 0 1 0 0 LCE2C 353140 broad.mit.edu 37 1 152648755 152648755 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:152648755C>T ENST00000368783.1 + 2 319 c.264C>T c.(262-264)agC>agT p.S88S LCE2B_ENST00000417924.2_Intron NM_178429.2 NP_848516.1 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 88 Cys-rich. keratinization endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGCACCAGAGCCCCGACTGCT 0.672000 34 158 0 0 1 0 0 ALPI 248 broad.mit.edu 37 2 233323624 233323624 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:233323624G>A ENST00000295463.3 + 11 1432 c.1355G>A c.(1354-1356)gGa>gAa p.G452E NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 452 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) GAGACCCACGGAGGCGAAGAC 0.692000 6 24 0 0 1 0 0 LRRC49 54839 broad.mit.edu 37 15 71197007 71197007 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:71197007C>T ENST00000260382.5 + 5 673 c.413C>T c.(412-414)tCg>tTg p.S138L LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.S128L|LRRC49_ENST00000443425.2_Missense_Mutation_p.S94L|LRRC49_ENST00000560369.1_Missense_Mutation_p.S143L NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 138 cytoplasm|microtubule p.S138L(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 AAGTTAATATCGTTGGATTTA 0.358000 23 108 0 0 1 0 0 MAN2C1 4123 broad.mit.edu 37 15 75651148 75651148 + Splice_Site SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:75651148C>T ENST00000565683.1 - 19 2205 c.2192_splice c.e19-1 p.E732_splice MAN2C1_ENST00000563622.1_Splice_Site_p.E616_splice|MAN2C1_ENST00000267978.5_Splice_Site_p.E715_splice|MAN2C1_ENST00000569482.1_Splice_Site_p.E715_splice NM_001256494.1 NP_001243423.1 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 715 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 GCAATGGCCTCCCTGGAAGGA 0.572000 4 13 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10433055 10433055 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:10433055C>T ENST00000245503.5 - 24 3327 c.2943G>A c.(2941-2943)gtG>gtA p.V981V CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.V981V|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 981 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TGAGGTTTTTCACCTACAAAG 0.458000 61 178 0 0 1 0 0 NMUR2 56923 broad.mit.edu 37 5 151784272 151784272 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:151784272G>A ENST00000255262.3 - 1 568 c.403C>T c.(403-405)Ctc>Ttc p.L135F NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 135 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) GTGATGCTGAGGATGGAGGCG 0.632000 29 77 0 0 1 0 0 MS4A14 84689 broad.mit.edu 37 11 60183349 60183349 + Missense_Mutation SNP T T A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:60183349T>A ENST00000300187.6 + 5 1185 c.908T>A c.(907-909)gTt>gAt p.V303D MS4A14_ENST00000395005.2_Missense_Mutation_p.V286D|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.V191D|MS4A14_ENST00000531783.1_Missense_Mutation_p.V336D NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 303 integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 TCACTCCAAGTTTTTCCATCC 0.423000 13 55 0 0 1 0 0 IPO7 10527 broad.mit.edu 37 11 9457827 9457827 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:9457827G>A ENST00000379719.3 + 20 2324 c.2182G>A c.(2182-2184)Gga>Aga p.G728R NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 728 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) GGTTCTTACAGGAGTTGCAGG 0.413000 4 24 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21101786 21101786 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:21101786C>T ENST00000377122.4 - 24 2826 c.2430G>A c.(2428-2430)agG>agA p.R810R NEBL_ENST00000417816.2_Silent_p.R147R|NEBL_ENST00000377159.4_Silent_p.R113R NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 810 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GGGTGTTCTTCCTCACTCTCT 0.483000 10 45 0 0 1 0 0 ZC2HC1A 51101 broad.mit.edu 37 8 79629650 79629650 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:79629650C>T ENST00000263849.4 + 9 1002 c.900C>T c.(898-900)tgC>tgT p.C300C NM_016010.2 NP_057094.2 Q96GY0 F164A_HUMAN zinc finger, C2HC-type containing 1A 300 CAAAATTCTGCCATGAGTGTG 0.373000 36 164 0 0 1 0 0 KRT9 3857 broad.mit.edu 37 17 39723964 39723964 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:39723964C>T ENST00000246662.4 - 7 1498 c.1433G>A c.(1432-1434)cGa>cAa p.R478Q KRT9_ENST00000588431.1_Missense_Mutation_p.R245Q NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 478 Tail. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) acttcctcctcGACCTCCAAG 0.512000 19 40 0 0 1 0 0 FAM188B 84182 broad.mit.edu 37 7 30922585 30922585 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:30922585C>T ENST00000265299.6 + 17 2279 c.2202C>T c.(2200-2202)ccC>ccT p.P734P INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_Silent_p.P80P|AQP1_ENST00000509504.1_Silent_p.P197P NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 734 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TTGTCCCACCCCTCGAGCTCT 0.582000 59 116 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169511190 169511190 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:169511190C>T ENST00000367796.3 - 13 3354 c.3153G>A c.(3151-3153)agG>agA p.R1051R F5_ENST00000367797.3_Silent_p.R1046R P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1046 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity 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) GGTGAAAGGTCCTCGGAGATA 0.403000 56 340 0 0 1 0 0 SPRED3 399473 broad.mit.edu 37 19 38882864 38882864 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:38882864C>T ENST00000587013.1 + 3 569 c.491C>T c.(490-492)cCc>cTc p.P164L SPRED3_ENST00000586301.1_Missense_Mutation_p.P120L|SPRED3_ENST00000338502.4_Missense_Mutation_p.P120L|SPRED3_ENST00000587564.2_3'UTR Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 120 multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcc 0.647000 4 16 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43772124 43772124 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:43772124G>A ENST00000244293.7 - 2 308 c.242C>T c.(241-243)tCg>tTg p.S81L PSG9_ENST00000270077.3_Missense_Mutation_p.S81L|PSG9_ENST00000443718.3_Missense_Mutation_p.S81L|PSG9_ENST00000291752.5_Missense_Mutation_p.S81L|PSG9_ENST00000596730.1_Missense_Mutation_p.S81L|PSG9_ENST00000593948.1_Missense_Mutation_p.S81L|PSG9_ENST00000418820.2_Missense_Mutation_p.S81L Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 81 Ig-like V-type. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) AACTATATACGATATAATGTA 0.428000 62 184 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92085636 92085636 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:92085636G>A ENST00000298047.6 + 1 375 c.358G>A c.(358-360)Gaa>Aaa p.E120K FAT3_ENST00000409404.2_Missense_Mutation_p.E120K|FAT3_ENST00000541502.1_Missense_Mutation_p.E120K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 120 Cadherin 1. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTAAATAGGGAAATCCAGGA 0.358000 TCGA Ovarian(4;0.039) 11 28 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103681 53103681 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:53103681C>T ENST00000408890.4 + 1 333 c.317C>T c.(316-318)aCc>aTc p.T106I NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 106 p.T106N(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCCGGGGAGACCGCTCTGGGG 0.711000 18 34 0 0 1 0 0 RAB11FIP4 84440 broad.mit.edu 37 17 29844720 29844720 + Nonsense_Mutation SNP G G T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:29844720G>T ENST00000325874.8 + 4 617 c.388G>T c.(388-390)Gaa>Taa p.E130* RAB11FIP4_ENST00000394744.2_Nonsense_Mutation_p.E28* NM_032932.3 NP_116321.2 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 130 Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) CATCCCCAGGGAACCCGGCTT 0.617000 3 9 0.184627 0.184737 1 1 0 RANBP2 5903 broad.mit.edu 37 2 109398752 109398752 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:109398752C>T ENST00000283195.6 + 27 9055 c.8929C>T c.(8929-8931)Cag>Tag p.Q2977* NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2977 RanBD1 4. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GAGAAGAGACCAGGTTTTTAA 0.383000 19 57 0 0 1 0 0 IP6K2 51447 broad.mit.edu 37 3 48728832 48728832 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:48728832G>A ENST00000328631.5 - 4 735 c.512C>T c.(511-513)tCc>tTc p.S171F NM_001005909.2|NM_016291.3 NP_001005909.1|NP_057375.2 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 171 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 TTTAAGCTGGGAACTTATATT 0.388000 26 83 0 0 1 0 0 SFRP1 6422 broad.mit.edu 37 8 41122983 41122983 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:41122983C>T ENST00000220772.3 - 3 985 c.648G>A c.(646-648)gtG>gtA p.V216V SFRP1_ENST00000379845.3_Silent_p.V80V NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 216 NTR. brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) TTTCTTTTTTCACTTCTTTTA 0.418000 7 19 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 379850 379850 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:379850C>T ENST00000432829.2 + 21 2632 c.2316C>T c.(2314-2316)gaC>gaT p.D772D DOCK8_ENST00000382329.1_Silent_p.D307D|DOCK8_ENST00000382331.1_Silent_p.D142D|DOCK8_ENST00000453981.1_Silent_p.D840D|DOCK8_ENST00000469391.1_Silent_p.D772D NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 840 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TGAGCAAGGACCAGCATGGGA 0.562000 11 40 0 0 1 0 0 NNT 23530 broad.mit.edu 37 5 43628323 43628323 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:43628323C>T ENST00000264663.5 + 7 1019 c.798C>T c.(796-798)ttC>ttT p.F266F NNT_ENST00000344920.4_Silent_p.F266F|NNT_ENST00000512996.2_Silent_p.F135F NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 266 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) TGGAACAGTTCAAGTCTCTTG 0.428000 26 98 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418443 105418443 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:105418443C>T ENST00000333244.5 - 7 3464 c.3345G>A c.(3343-3345)gcG>gcA p.A1115A AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1115 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) CTGTGACTTCCGCCTTGGGGC 0.652000 74 245 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40591077 40591077 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:40591077G>A ENST00000260402.3 - 9 1021 c.772C>T c.(772-774)Ctg>Ttg p.L258L PLCB2_ENST00000456256.2_Silent_p.L258L|PLCB2_ENST00000557821.1_Silent_p.L258L NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 258 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) GGCGGGAACAGCAGGGAGTTA 0.567000 21 89 0 0 1 0 0 COL8A1 1295 broad.mit.edu 37 3 99513678 99513678 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:99513678G>A ENST00000261037.3 + 5 1313 c.933G>A c.(931-933)ggG>ggA p.G311G COL8A1_ENST00000273342.4_Silent_p.G311G NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 311 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 GACCTCCTGGGATACCCGGAA 0.657000 17 49 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35536302 35536302 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:35536302G>A ENST00000353139.5 - 41 5459 c.4978C>T c.(4978-4980)Cca>Tca p.P1660S ACACA_ENST00000360679.3_Missense_Mutation_p.P1565S|ACACA_ENST00000335166.5_Missense_Mutation_p.P1545S|ACACA_ENST00000394406.2_Missense_Mutation_p.P1623S NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1623 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GGGGGAGATGGAAGAAATGCT 0.438000 15 55 0 0 1 0 0 SULT6B1 391365 broad.mit.edu 37 2 37415691 37415691 + Splice_Site SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:37415691C>T ENST00000407963.1 - 2 83 c.e2-1 SULT6B1_ENST00000379149.2_Silent_p.Q31Q|SULT6B1_ENST00000535679.1_Silent_p.Q31Q Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member 1 cytoplasm sulfotransferase activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1) 12 all_hematologic(82;0.248) AAGGAATCCCCTGATAGGTGA 0.418000 24 59 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56702267 56702267 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:56702267C>T ENST00000586855.2 - 4 991 c.678G>A c.(676-678)aaG>aaA p.K226K ZSCAN5B_ENST00000358992.3_Silent_p.K226K A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 226 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CCCTGTTTTCCTTCAGATCCT 0.512000 20 55 0 0 1 0 0 HARS 3035 broad.mit.edu 37 5 140058709 140058709 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140058709G>A ENST00000504366.1 - 4 2012 c.193C>T c.(193-195)Cct>Tct p.P65S HARS_ENST00000504156.1_Missense_Mutation_p.P134S|HARS_ENST00000307633.3_Missense_Mutation_p.P94S|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000457527.2_Missense_Mutation_p.P134S|HARS_ENST00000415192.2_Intron|HARS_ENST00000438307.2_Missense_Mutation_p.P94S|HARS_ENST00000431330.2_Intron P12081 SYHC_HUMAN histidyl-tRNA synthetase 134 histidyl-tRNA aminoacylation cytosol ATP binding|histidine-tRNA ligase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) L-Histidine(DB00117) CGAGCAAAAGGAACCTGATGA 0.478000 22 94 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 5 28 0 0 1 0 0 GPR52 9293 broad.mit.edu 37 1 174417981 174417981 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:174417981C>T ENST00000367685.2 + 1 770 c.732C>T c.(730-732)ttC>ttT p.F244F RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron NM_005684.4 NP_005675.3 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 244 integral to plasma membrane G-protein coupled receptor activity breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2) 20 GAGCCCGATTCCCTAGTCATG 0.448000 24 152 0 0 1 0 0 GCDH 2639 broad.mit.edu 37 19 13004358 13004358 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:13004358G>A ENST00000222214.5 + 6 607 c.396G>A c.(394-396)cgG>cgA p.R132R GCDH_ENST00000457854.1_Silent_p.R132R|GCDH_ENST00000422947.2_Silent_p.R88R|GCDH_ENST00000591470.1_Silent_p.R132R Q92947 GCDH_HUMAN glutaryl-CoA dehydrogenase 132 lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8) 19 AGCTGGAGCGGGTGGACAGTG 0.592000 14 79 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27301771 27301771 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:27301771C>T ENST00000397501.1 + 28 3005 c.2197C>T c.(2197-2199)Cca>Tca p.P733S PTK2B_ENST00000346049.5_Missense_Mutation_p.P733S|PTK2B_ENST00000338238.4_Missense_Mutation_p.P733S|PTK2B_ENST00000420218.2_Missense_Mutation_p.P733S|PTK2B_ENST00000397497.4_Missense_Mutation_p.P479S|PTK2B_ENST00000517339.1_Missense_Mutation_p.P733S|PTK2B_ENST00000544172.1_Missense_Mutation_p.P733S NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 733 Pro-rich. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CCTCCTGGCTCCAAAGCTGCA 0.537000 11 30 0 0 1 0 0 KIAA1841 84542 broad.mit.edu 37 2 61331072 61331072 + Silent SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:61331072T>C ENST00000402291.1 + 13 1691 c.1450T>C c.(1450-1452)Ttg>Ctg p.L484L KIAA1841_ENST00000295031.5_Silent_p.L484L|KIAA1841_ENST00000453873.1_Silent_p.L484L|KIAA1841_ENST00000356719.2_Silent_p.L484L NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 484 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) TGCTAGAATGTTGGACGATTT 0.448000 10 39 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227924234 227924234 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:227924234C>T ENST00000396625.3 - 28 2477 c.2270G>A c.(2269-2271)gGa>gAa p.G757E COL4A4_ENST00000329662.7_Missense_Mutation_p.G757E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 757 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TCCCGGGATTCCTTTCTGACC 0.607000 28 111 0 0 1 0 0 LCTL 197021 broad.mit.edu 37 15 66840939 66840939 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:66840939G>A ENST00000341509.5 - 13 1724 c.1593C>T c.(1591-1593)ccC>ccT p.P531P LCTL_ENST00000537670.1_Silent_p.P358P|ZWILCH_ENST00000446801.2_3'UTR|ZWILCH_ENST00000307897.5_3'UTR NM_207338.2 NP_997221.2 Q6UWM7 LCTL_HUMAN lactase-like 531 carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GACTTAGCAAGGGCTCTGAAA 0.438000 15 49 0 0 1 0 0 TAS2R39 259285 broad.mit.edu 37 7 142880781 142880781 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:142880781G>A ENST00000446620.1 + 1 270 c.270G>A c.(268-270)atG>atA p.M90I NM_176881.2 NP_795362.2 P59534 T2R39_HUMAN taste receptor, type 2, member 39 90 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) AAAGCCTCATGATGTTAGAAA 0.363000 37 171 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559230 140559230 + Missense_Mutation SNP T T A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140559230T>A ENST00000239444.2 + 1 1860 c.1615T>A c.(1615-1617)Tcc>Acc p.S539T NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 539 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGACCGCGGCTCCCCGGCTTT 0.672000 31 352 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875377 247875377 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:247875377C>T ENST00000302084.2 - 1 728 c.681G>A c.(679-681)agG>agA p.R227R RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R227S(1) breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CAGAGGGGATCCTGAGGATGG 0.527000 89 81 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 107022168 107022168 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:107022168G>A ENST00000369701.3 + 26 3750 c.3523G>A c.(3523-3525)Gaa>Aaa p.E1175K NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1175 integral to membrane neuropeptide receptor activity p.E1175K(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GAGCCAAAGTGAAAACGCCCC 0.507000 32 35 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43932918 43932918 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:43932918G>A ENST00000537548.1 - 4 837 c.593C>T c.(592-594)tCc>tTc p.S198F MATN4_ENST00000372754.1_Missense_Mutation_p.S198F|MATN4_ENST00000353917.5_Missense_Mutation_p.S198F|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.S198F|MATN4_ENST00000360607.5_Missense_Mutation_p.S198F|MATN4_ENST00000372756.1_Missense_Mutation_p.S198F O95460 MATN4_HUMAN matrilin 4 198 VWFA 1. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) GAGGTCGAAGGACTCTACGAG 0.617000 17 72 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25563045 25563045 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr18:25563045G>A ENST00000269141.3 - 14 2635 c.2212C>T c.(2212-2214)Ctt>Ttt p.L738F CDH2_ENST00000399380.3_Missense_Mutation_p.L707F NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 738 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 ATCAGCACAAGGACTAGGTAG 0.318000 17 62 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50957332 50957332 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:50957332G>A ENST00000357701.5 + 17 1856 c.1805G>A c.(1804-1806)aGc>aAc p.S602N NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 602 Ig-like C2-type 5. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GACTGCAGCAGCTTTGTGATT 0.612000 6 19 0 0 1 0 0 ADRBK2 157 broad.mit.edu 37 22 26063727 26063727 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:26063727G>A ENST00000324198.5 + 6 655 c.463G>A c.(463-465)Gaa>Aaa p.E155K NM_005160.3 NP_005151.2 P35626 ARBK2_HUMAN adrenergic, beta, receptor kinase 2 155 N-terminal.|RGS. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2) 32 Adenosine triphosphate(DB00171) AGAAATTTGTGAAAGCCTTCG 0.328000 4 50 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183721337 183721337 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:183721337G>A ENST00000511685.1 + 28 8056 c.7933G>A c.(7933-7935)Gag>Aag p.E2645K TENM3_ENST00000406950.2_Missense_Mutation_p.E2645K teneurin transmembrane protein 3 CGACGGCGAGGAGGGCGCGCG 0.736000 4 16 0 0 1 0 0 SRCIN1 80725 broad.mit.edu 37 17 36717919 36717919 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:36717919G>A ENST00000264659.7 - 7 1704 c.1480C>T c.(1480-1482)Ccc>Tcc p.P494S SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.P528S NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 366 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 CCCGAGTAGGGGCTGTGCGGT 0.721000 5 10 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17599903 17599903 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:17599903G>A ENST00000375460.3 + 10 1156 c.1116G>A c.(1114-1116)agG>agA p.R372R NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 372 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) ACTCCCCAAGGAATGGGGAAC 0.612000 6 25 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256039 140256039 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140256039C>T ENST00000398631.2 + 1 982 c.982C>T c.(982-984)Cct>Tct p.P328S PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAAAGGGATTCCTTCCATGGC 0.423000 19 62 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14363864 14363864 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:14363864G>A ENST00000344204.4 + 14 2439 c.2415G>A c.(2413-2415)tgG>tgA p.W805* TRIO_ENST00000537187.1_Nonsense_Mutation_p.W805*|TRIO_ENST00000509967.2_Nonsense_Mutation_p.W756* NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 805 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TCGAGTCTTGGAATGATGAGC 0.438000 16 55 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167096871 167096871 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:167096871G>A ENST00000361200.2 + 6 2669 c.2503G>A c.(2503-2505)Gaa>Aaa p.E835K DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.E835K|DUSP27_ENST00000443333.1_Missense_Mutation_p.E835K Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 835 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity 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 GGACCTAAAGGAACTTGGCCG 0.522000 40 64 0 0 1 0 0 E2F2 1870 broad.mit.edu 37 1 23848336 23848336 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:23848336G>A ENST00000361729.2 - 3 997 c.571C>T c.(571-573)Cag>Tag p.Q191* NM_004091.3 NP_004082.1 Q14209 E2F2_HUMAN E2F transcription factor 2 191 G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19) CACACCCACTGGATGTTGTTC 0.612000 19 43 0 0 1 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62604624 62604624 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:62604624G>A ENST00000281156.4 - 6 1004 c.726C>T c.(724-726)gtC>gtT p.V242V NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 242 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) GAGGGGTAGGGACACCTCTTG 0.587000 16 24 0 0 1 0 0 GPR78 27201 broad.mit.edu 37 4 8584303 8584303 + Silent SNP C C T rs35460303 byFrequency TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:8584303C>T ENST00000382487.4 + 2 1131 c.714C>T c.(712-714)cgC>cgT p.R238R GPR78_ENST00000509216.1_3'UTR NM_080819.4 NP_543009.2 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 238 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 GCCGCCACCGCGCCACCAGGA 0.627000 14 104 0 0 1 0 0 FRS3 10817 broad.mit.edu 37 6 41740650 41740650 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:41740650G>A ENST00000373018.3 - 5 552 c.301C>T c.(301-303)Ctt>Ttt p.L101F FRS3_ENST00000259748.2_Missense_Mutation_p.L101F NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 101 IRS-type PTB. fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGATCCTGAAGGAGGTTGAAG 0.522000 15 44 0 0 1 0 0 MIP 4284 broad.mit.edu 37 12 56847477 56847477 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:56847477G>A ENST00000257979.4 - 2 451 c.423C>T c.(421-423)ttC>ttT p.F141F MIP_ENST00000555551.1_5'UTR NM_012064.3 NP_036196.1 P30301 MIP_HUMAN major intrinsic protein of lens fiber 141 response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 16 TGCAGAGCACGAACTGGAGCG 0.607000 13 36 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043849 20043849 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:20043849G>A ENST00000570682.1 - 2 570 c.270C>T c.(268-270)ttC>ttT p.F90F NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 90 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 TGTTCAAGATGAAATCTTCCA 0.463000 11 42 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217651 150217651 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:150217651G>A ENST00000313543.4 + 2 746 c.589G>A c.(589-591)Gaa>Aaa p.E197K NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 197 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCAGTGCAACGAAGGGGCTTA 0.443000 51 33 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152326817 152326817 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:152326817C>T ENST00000388718.5 - 3 3517 c.3445G>A c.(3445-3447)Ggt>Agt p.G1149S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1149 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTAGACTGACCTGATCTGTAC 0.517000 168 177 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169623541 169623541 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:169623541C>T ENST00000366787.3 - 19 3052 c.2803G>A c.(2803-2805)Gat>Aat p.D935N XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 935 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) TTGTCAAAATCATCTTTACAA 0.418000 17 43 0 0 1 0 0 SLC25A28 81894 broad.mit.edu 37 10 101370931 101370931 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:101370931C>T ENST00000370495.4 - 4 798 c.770G>A c.(769-771)aGa>aAa p.R257K SLC25A28_ENST00000496035.1_5'UTR NM_031212.3 NP_112489.3 Q96A46 MFRN2_HUMAN solute carrier family 25 (mitochondrial iron transporter), member 28 257 ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1) 11 Colorectal(252;0.234) Epithelial(162;2.57e-10)|all cancers(201;2.01e-08) GTTGTACCGTCTCTGGGGGTT 0.542000 18 63 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10622577 10622577 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:10622577C>T ENST00000547195.1 - 14 2132 c.1632G>A c.(1630-1632)gtG>gtA p.V544V MRVI1_ENST00000558540.1_Silent_p.V320V|MRVI1_ENST00000424001.1_Silent_p.V320V|MRVI1_ENST00000421747.1_Silent_p.V626V|MRVI1_ENST00000552103.1_Silent_p.V544V|MRVI1_ENST00000534266.2_Silent_p.V320V|MRVI1_ENST00000531107.1_Silent_p.V627V|MRVI1_ENST00000527509.2_Silent_p.V544V|MRVI1_ENST00000541483.1_Silent_p.V429V|MRVI1_ENST00000545852.1_Silent_p.V320V|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000436272.1_Silent_p.V608V|MRVI1_ENST00000423302.2_Silent_p.V635V NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 608 Interaction with ITPR1 (By similarity). platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) ACTGCATCATCACTTCCGTTG 0.493000 44 204 0 0 1 0 0 DHX8 1659 broad.mit.edu 37 17 41585813 41585813 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:41585813C>T ENST00000262415.3 + 16 2499 c.2427C>T c.(2425-2427)atC>atT p.I809I DHX8_ENST00000540306.1_Silent_p.I809I NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 809 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) AGTTAATTATCCTCCCAGTGT 0.473000 25 75 0 0 1 0 0 WFDC13 164237 broad.mit.edu 37 20 44333151 44333151 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:44333151G>A ENST00000305479.2 + 2 265 c.157G>A c.(157-159)Gaa>Aaa p.E53K WFDC10B_ENST00000330523.5_5'UTR|WFDC10B_ENST00000335769.2_Missense_Mutation_p.P42S NM_172005.1 NP_742002.1 Q8IUB5 WFD13_HUMAN WAP four-disulfide core domain 13 53 extracellular region peptidase inhibitor activity p.E53K(1) skin(1)|upper_aerodigestive_tract(1) 2 Myeloproliferative disorder(115;0.0122) TACAATGCAGGAAGATTGCGA 0.438000 43 77 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181686297 181686297 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:181686297G>A ENST00000526775.1 + 11 1549 c.1384G>A c.(1384-1386)Gaa>Aaa p.E462K CACNA1E_ENST00000357570.5_Missense_Mutation_p.E413K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E69K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E462K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E462K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E413K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E462K NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 462 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCGGCACAAGGAAAGGCTTCT 0.512000 29 156 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54915006 54915006 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:54915006G>A ENST00000293373.6 + 18 1941 c.1862G>A c.(1861-1863)cGa>cAa p.R621Q NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R571Q NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 621 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 GCTGAGCAGCGAAACCTGAGC 0.552000 17 47 0 0 1 0 0 ZNF451 26036 broad.mit.edu 37 6 57006231 57006231 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:57006231C>T ENST00000370706.4 + 8 1078 c.834C>T c.(832-834)ttC>ttT p.F278F RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Silent_p.F278F|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Silent_p.F278F|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AGAATCATTTCCATCAGAGTT 0.348000 10 15 0 0 1 0 0 OLFML3 56944 broad.mit.edu 37 1 114523781 114523781 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:114523781C>T ENST00000369551.1 + 4 839 c.551C>T c.(550-552)cCc>cTc p.P184L OLFML3_ENST00000320334.4_Missense_Mutation_p.P204L|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.P184L Q9NRN5 OLFL3_HUMAN olfactomedin-like 3 204 Olfactomedin-like. multicellular organismal development extracellular region breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1) 14 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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) GTCCGGGTGCCCTTCCCCTGG 0.572000 14 33 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94476464 94476464 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:94476464G>A ENST00000370225.3 - 40 5692 c.5606C>T c.(5605-5607)cCg>cTg p.P1869L ABCA4_ENST00000536513.1_Missense_Mutation_p.P139L|ABCA4_ENST00000535881.1_5'UTR|ABCA4_ENST00000465352.1_5'UTR NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1869 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CCAGTGGAACGGATTTGCAGA 0.592000 12 52 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130331474 130331474 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:130331474G>A ENST00000299164.2 + 2 1048 c.1048G>A c.(1048-1050)Gac>Aac p.D350N NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 350 Peptidase M12B. 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) TGTCATTGAGGACGATGGGCT 0.612000 14 32 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9453992 9453992 + Silent SNP C C T rs6140947 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:9453992C>T ENST00000378501.2 + 34 3454 c.3439C>T c.(3439-3441)Cta>Tta p.L1147L PLCB4_ENST00000378473.3_Silent_p.L1159L|PLCB4_ENST00000414679.2_Silent_p.L1159L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.L1147L|PLCB4_ENST00000278655.4_Silent_p.L1147L|PLCB4_ENST00000378493.1_Silent_p.L1147L NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 1147 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TCTAGAATTCCTAGAGAAACA 0.388000 27 53 0 0 1 0 0 ZNF93 81931 broad.mit.edu 37 19 20044530 20044530 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:20044530C>T ENST00000343769.5 + 4 794 c.766C>T c.(766-768)Ccc>Tcc p.P256S AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 256 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 TGGAAAGAAACCCTACAAGTG 0.368000 11 42 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69046463 69046463 + Silent SNP G G A rs140035238 byFrequency TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:69046463G>A ENST00000288368.4 + 32 4213 c.3936G>A c.(3934-3936)gcG>gcA p.A1312A NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1312 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 ACCAGATAGCGAATGCAGGTG 0.483000 12 65 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101606722 101606722 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:101606722C>T ENST00000335681.5 + 18 2117 c.1832C>T c.(1831-1833)cCa>cTa p.P611L NPAS2_ENST00000542504.1_Missense_Mutation_p.P676L NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 611 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTCCAGGGTCCAAAGCCAATG 0.567000 22 97 0 0 1 0 0 COX10 1352 broad.mit.edu 37 17 13980118 13980118 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:13980118C>T ENST00000261643.3 + 3 321 c.244C>T c.(244-246)Cct>Tct p.P82S COX10_ENST00000537334.1_Intron|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000429152.2_Missense_Mutation_p.P82S NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) 82 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) AGTAGCATCTCCTTTCCTTGA 0.423000 11 46 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603982 140603982 + Missense_Mutation SNP A A G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140603982A>G ENST00000239449.4 + 1 905 c.905A>G c.(904-906)aAt>aGt p.N302S PCDHB14_ENST00000515856.2_Missense_Mutation_p.N149S NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 302 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGGAAGTTAATTTGAGATCA 0.363000 13 57 0 0 1 0 0 AQP2 359 broad.mit.edu 37 12 50348049 50348049 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:50348049G>A ENST00000199280.3 + 2 557 c.472G>A c.(472-474)Ggc>Agc p.G158S RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA NM_000486.5 NP_000477.1 P41181 AQP2_HUMAN aquaporin 2 (collecting duct) 158 cellular response to copper ion|cellular response to mercury ion|excretion apical plasma membrane|integral to membrane|transport vesicle membrane glycerol transmembrane transporter activity|water channel activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2) 10 AGAGAACCCGGGCACCCCTGC 0.647000 10 20 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43571423 43571423 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:43571423C>T ENST00000452443.2 - 11 1735 c.1731G>A c.(1729-1731)acG>acA p.T577T NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 577 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) GCTTTTCGTCCGTTAGCTTGT 0.527000 9 28 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579028 82579028 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:82579028G>A ENST00000423517.2 - 6 11213 c.10876C>T c.(10876-10878)Ccc>Tcc p.P3626S PCLO_ENST00000437081.1_Missense_Mutation_p.P346S|PCLO_ENST00000333891.8_Missense_Mutation_p.P3626S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3557 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGTGAGATGGGTGAGTAAAGG 0.483000 58 110 0 0 1 0 0 OR1C1 26188 broad.mit.edu 37 1 247921301 247921301 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:247921301C>T ENST00000408896.2 - 1 681 c.408G>A c.(406-408)atG>atA p.M136I NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGCACAGGTTCATTCTGGCGG 0.493000 16 78 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50158053 50158053 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:50158053C>T ENST00000360565.3 + 9 3668 c.3544C>T c.(3544-3546)Ccc>Tcc p.P1182S NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 1182 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) CCCCCCCACCCCCACCGGGCT 0.692000 10 49 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52554222 52554222 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:52554222C>T ENST00000321725.6 + 52 5491 c.5415C>T c.(5413-5415)gcC>gcT p.A1805A NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1805 FAS1 6. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TTGCTCAGGCCTTGGCATCTG 0.612000 17 76 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74274546 74274546 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:74274546C>T ENST00000409262.3 + 1 1097 c.1097C>T c.(1096-1098)cCg>cTg p.P366L NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 366 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TCCCCGGCCCCGGCCCCATCC 0.662000 13 23 0 0 1 0 0 ACTL9 284382 broad.mit.edu 37 19 8809028 8809028 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:8809028G>A ENST00000324436.3 - 1 144 c.24C>T c.(22-24)tcC>tcT p.S8S NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 8 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 GGGATTCCGAGGACTTGGGGC 0.667000 39 139 0 0 1 0 0 SEPT8 23176 broad.mit.edu 37 5 132101139 132101139 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:132101139G>A ENST00000296873.7 - 2 396 c.113C>T c.(112-114)tCg>tTg p.S38L SEPT8_ENST00000458488.2_Missense_Mutation_p.S38L|SEPT8_ENST00000448933.1_5'UTR|SEPT8_ENST00000378699.2_5'UTR|SEPT8_ENST00000378706.1_Missense_Mutation_p.S38L|SEPT8_ENST00000378719.2_Missense_Mutation_p.S38L|SEPT8_ENST00000378721.4_Missense_Mutation_p.S38L|SEPT8_ENST00000378701.1_Missense_Mutation_p.S38L NM_001098812.1|NM_015146.1 NP_001092282.1|NP_055961.1 Q92599 SEPT8_HUMAN septin 8 38 cell cycle septin complex GTP binding|protein binding p.S38L(1) SEPT8/AFF4(2) kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTGAGTGACCGACTTGCTGAC 0.617000 46 136 0 0 1 0 0 SYNJ2BP 55333 broad.mit.edu 37 14 70839802 70839802 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:70839802G>A ENST00000256366.4 - 4 425 c.344C>T c.(343-345)cCa>cTa p.P115L RP11-718G2.3_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_5'UTR NM_018373.2 NP_060843.2 synaptojanin 2 binding protein central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1) 5 all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377) AATACCACTTGGGTCCCCTTC 0.458000 25 54 0 0 1 0 0 MYL2 4633 broad.mit.edu 37 12 111351114 111351114 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:111351114C>T ENST00000228841.8 - 5 336 c.289G>A c.(289-291)Gaa>Aaa p.E97K MYL2_ENST00000548438.1_Missense_Mutation_p.E83K NM_000432.3 NP_000423.2 P10916 MLRV_HUMAN myosin, light chain 2, regulatory, cardiac, slow 97 EF-hand 2. cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 12 AGAATGGTTTCCTCAGGGTCC 0.587000 13 56 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33560226 33560226 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:33560226C>T ENST00000228567.3 - 3 871 c.575G>A c.(574-576)gGc>gAc p.G192D SYT10_ENST00000535526.1_Missense_Mutation_p.G11D NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 192 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) AGGTTCTGTGCCCATGCTAAA 0.453000 15 96 0 0 1 0 0 SLC36A2 153201 broad.mit.edu 37 5 150722484 150722484 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:150722484G>A ENST00000335244.4 - 4 534 c.405C>T c.(403-405)ccC>ccT p.P135P SLC36A2_ENST00000521967.1_Silent_p.P135P NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 135 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCCAGGCGTTGGGGTTGGCTT 0.522000 10 44 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211460236 211460236 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:211460236C>T ENST00000233072.5 + 13 1485 c.1289C>T c.(1288-1290)tCa>tTa p.S430L CPS1_ENST00000451903.2_5'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.S436L NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 430 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ATTCTAGGATCAGGAGGTCTG 0.378000 30 92 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9067623 9067623 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:9067623G>A ENST00000397910.4 - 3 20026 c.19823C>T c.(19822-19824)tCg>tTg p.S6608L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6610 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 TGGGACAGACGAATAAGATTC 0.443000 54 157 0 0 1 0 0 HLA-DPB1 3115 broad.mit.edu 37 6 33053608 33053608 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:33053608C>T ENST00000418931.2 + 4 815 c.699C>T c.(697-699)ttC>ttT p.F233F NM_002121.5 NP_002112.3 P04440 DPB1_HUMAN major histocompatibility complex, class II, DP beta 1 233 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 11 CTGGGGGCTTCGTGCTGGGGC 0.582000 16 81 0 0 1 0 0 SUN1 23353 broad.mit.edu 37 7 893141 893141 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:893141C>T ENST00000456758.2 + 16 1716 c.1716C>T c.(1714-1716)ctC>ctT p.L572L SUN1_ENST00000401592.1_Silent_p.L383L|SUN1_ENST00000405266.1_Silent_p.L420L|SUN1_ENST00000389574.3_Silent_p.L300L|SUN1_ENST00000452783.2_Silent_p.L280L|SUN1_ENST00000425407.2_Silent_p.L300L|SUN1_ENST00000413514.2_Silent_p.L192L O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 410 cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GTGAGAATCTCCGAGAGCTGA 0.612000 46 65 0 0 1 0 0 INMT 11185 broad.mit.edu 37 7 30795099 30795099 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:30795099G>A ENST00000013222.5 + 3 440 c.424G>A c.(424-426)Gat>Aat p.D142N INMT_ENST00000409539.1_Missense_Mutation_p.D141N|INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron NM_001199219.1|NM_006774.4 NP_001186148.1|NP_006765.4 O95050 INMT_HUMAN indolethylamine N-methyltransferase 142 S-adenosyl-L-methionine binding. cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 GCTCAAGTGCGATGTCCACCT 0.657000 18 44 0 0 1 0 0 MCHR2 84539 broad.mit.edu 37 6 100390825 100390825 + Splice_Site SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:100390825C>T ENST00000281806.2 - 4 901 c.587_splice c.e4+1 p.W196_splice MCHR2_ENST00000369212.1_Splice_Site_p.W196_splice|MCHR2_ENST00000445970.1_Splice_Site_p.W196_splice NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 196 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) CACAACTTACCAGAGTACATC 0.408000 16 59 0 0 1 0 0 MUSK 4593 broad.mit.edu 37 9 113547963 113547963 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:113547963C>T ENST00000416899.2 + 11 1845 c.1719C>T c.(1717-1719)atC>atT p.I573I MUSK_ENST00000189978.5_Silent_p.I581I|MUSK_ENST00000374448.4_Silent_p.I581I|MUSK_ENST00000374438.1_Silent_p.I97I O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 581 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 TGAGAGACATCGGAGAGGGAG 0.428000 46 49 0 0 1 0 0 SVOPL 136306 broad.mit.edu 37 7 138305846 138305846 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:138305846C>T ENST00000421622.1 - 10 1146 c.938G>A c.(937-939)gGa>gAa p.G313E SVOPL_ENST00000288513.5_Missense_Mutation_p.G281E|SVOPL_ENST00000419765.3_Missense_Mutation_p.G433E|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000436657.1_Missense_Mutation_p.G281E Q8N434 SVOPL_HUMAN SVOP-like 433 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 GCCGCTGGTTCCCATCCCCAA 0.592000 12 73 0 0 1 0 0 TNFRSF6B 8771 broad.mit.edu 37 20 62328320 62328320 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:62328320C>T ENST00000369996.1 + 1 300 c.200C>T c.(199-201)cCc>cTc p.P67L RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.P1369P|RTEL1_ENST00000318100.4_Silent_p.P1369P NM_003823.3 NP_003814.1 O95407 TNF6B_HUMAN tumor necrosis factor receptor superfamily, member 6b, decoy 67 anti-apoptosis|apoptosis extracellular region|soluble fraction protein binding|receptor activity central_nervous_system(1)|lung(2)|skin(1) 4 all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08) Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504) CGAGACAGCCCCACGACGTGT 0.697000 3 16 0 0 1 0 0 SLC16A14 151473 broad.mit.edu 37 2 230911020 230911020 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:230911020C>T ENST00000295190.4 - 4 1280 c.822G>A c.(820-822)agG>agA p.R274R NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 274 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) ACATGTTCTTCCTGTGCCCGG 0.592000 23 90 0 0 1 0 0 EOMES 8320 broad.mit.edu 37 3 27762916 27762916 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:27762916C>T ENST00000295743.4 - 1 1073 c.870G>A c.(868-870)acG>acA p.T290T EOMES_ENST00000449599.1_Silent_p.T290T|EOMES_ENST00000461503.1_Intron|EOMES_ENST00000537516.1_Intron O95936 EOMES_HUMAN eomesodermin 290 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 TGCCCTGTTTCGTAATGATCA 0.617000 9 20 0 0 1 0 0 C17orf77 146723 broad.mit.edu 37 17 72588490 72588490 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:72588490C>T ENST00000392620.1 + 3 667 c.305C>T c.(304-306)tCt>tTt p.S102F C17orf77_ENST00000328023.2_Missense_Mutation_p.S102F NM_152460.2 NP_689673.2 Q96MU5 CQ077_HUMAN chromosome 17 open reading frame 77 102 extracellular region breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 AGCTACTTCTCTTTTTACATA 0.413000 20 91 0 0 1 0 0 RFWD3 55159 broad.mit.edu 37 16 74695298 74695298 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:74695298G>A ENST00000361070.4 - 2 147 c.50C>T c.(49-51)gCc>gTc p.A17V RFWD3_ENST00000571750.1_Missense_Mutation_p.A17V NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 17 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 CTGTTGTTCGGCATGATTTAA 0.478000 5 229 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69433643 69433643 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:69433643C>T ENST00000317746.2 - 1 602 c.560G>A c.(559-561)gGa>gAa p.G187E NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 187 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 GAACAGAAATCCTCCACCATT 0.398000 23 129 0 0 1 0 0 TNS4 84951 broad.mit.edu 37 17 38645006 38645006 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:38645006C>T ENST00000254051.6 - 3 813 c.655G>A c.(655-657)Gag>Aag p.E219K NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 219 Ser-rich. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GAGAGACCCTCTGAGGGGGGC 0.652000 18 65 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158323802 158323802 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:158323802C>T ENST00000444681.2 + 1 317 c.24C>T c.(22-24)ttC>ttT p.F8F CD1E_ENST00000368157.1_Silent_p.F8F|CD1E_ENST00000368167.3_Silent_p.F8F|CD1E_ENST00000368154.1_Silent_p.F8F|CD1E_ENST00000368164.3_Silent_p.F8F|CD1E_ENST00000368160.3_Silent_p.F8F|CD1E_ENST00000368163.3_Silent_p.F8F|CD1E_ENST00000434258.1_Intron|CD1E_ENST00000368155.3_Silent_p.F8F|CD1E_ENST00000368161.3_Silent_p.F8F|CD1E_ENST00000368166.3_Silent_p.F8F|CD1E_ENST00000368156.1_Silent_p.F8F|CD1E_ENST00000452291.2_Silent_p.F8F|CD1E_ENST00000368165.3_Silent_p.F8F NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 8 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen p.F8L(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) TCCTCCTCTTCGAGGGTCTCT 0.522000 34 63 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1513981 1513981 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:1513981G>A ENST00000389470.4 - 42 6263 c.6264C>T c.(6262-6264)atC>atT p.I2088I INTS1_ENST00000404767.3_Silent_p.I1884I Q8N201 INT1_HUMAN integrator complex subunit 1 1884 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GGAGCGCCGCGATCATGGGCA 0.726000 27 55 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39472691 39472691 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:39472691C>T ENST00000518318.2 + 7 1084 c.1042C>T c.(1042-1044)Cca>Tca p.P348S POU6F2_ENST00000403058.1_Missense_Mutation_p.P348S|POU6F2_ENST00000559001.1_Missense_Mutation_p.P293S P78424 PO6F2_HUMAN POU class 6 homeobox 2 348 Gln-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CGGGACCATTCCACTGATGCC 0.587000 22 47 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79351564 79351564 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:79351564G>A ENST00000264895.6 + 37 5402 c.4962G>A c.(4960-4962)atG>atA p.M1654I FRAS1_ENST00000325942.6_Missense_Mutation_p.M1654I NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1653 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GAAGGCCGATGGCCACAGGTA 0.502000 5 17 0 0 1 0 0 OR5B2 390190 broad.mit.edu 37 11 58190555 58190555 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:58190555G>A ENST00000302581.2 - 1 231 c.180C>T c.(178-180)ttC>ttT p.F60F NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) GGTTACTGAGGAAAAAGTACA 0.502000 26 91 0 0 1 0 0 ZNF579 163033 broad.mit.edu 37 19 56090215 56090215 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:56090215G>A ENST00000325421.4 - 2 819 c.791C>T c.(790-792)cCg>cTg p.P264L NM_152600.2 NP_689813.2 Q8NAF0 ZN579_HUMAN zinc finger protein 579 264 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.106) GGGGCGTGGCGGGGGCCCCCC 0.716000 5 12 0 0 1 0 0 AACS 65985 broad.mit.edu 37 12 125626756 125626756 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:125626756C>T ENST00000545511.1 + 7 5523 c.536C>T c.(535-537)cCt>cTt p.P179L AACS_ENST00000316519.6_Missense_Mutation_p.P667L|AACS_ENST00000261686.6_Silent_p.P599P|AACS_ENST00000543665.1_Missense_Mutation_p.P99L|AACS_ENST00000316543.10_Missense_Mutation_p.P265L Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 667 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) CGGGACATCCCTGAGCTGCAG 0.532000 13 55 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36874674 36874674 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:36874674G>A ENST00000301807.6 - 21 6515 c.4618C>T c.(4618-4620)Cct>Tct p.P1540S TRANK1_ENST00000428977.2_Missense_Mutation_p.P1540S|TRANK1_ENST00000429976.2_Missense_Mutation_p.P2090S NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2090 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 ATGGGCCCAGGGTCATTCTGA 0.378000 8 18 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183721336 183721336 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:183721336G>A ENST00000511685.1 + 28 8055 c.7932G>A c.(7930-7932)gaG>gaA p.E2644E TENM3_ENST00000406950.2_Silent_p.E2644E teneurin transmembrane protein 3 GCGACGGCGAGGAGGGCGCGC 0.736000 4 16 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2711109 2711109 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:2711109C>T ENST00000399655.1 + 22 3208 c.2943C>T c.(2941-2943)ctC>ctT p.L981L CACNA1C_ENST00000399597.1_Silent_p.L981L|CACNA1C_ENST00000399629.1_Silent_p.L981L|CACNA1C_ENST00000399603.1_Silent_p.L981L|CACNA1C_ENST00000347598.4_Silent_p.L1001L|CACNA1C_ENST00000399634.1_Silent_p.L981L|CACNA1C_ENST00000399637.1_Silent_p.L981L|CACNA1C_ENST00000399591.1_Silent_p.L981L|CACNA1C_ENST00000399617.1_Silent_p.L981L|CACNA1C_ENST00000399621.1_Silent_p.L981L|CACNA1C_ENST00000402845.3_Silent_p.L981L|CACNA1C_ENST00000327702.7_Silent_p.L981L|CACNA1C_ENST00000399641.1_Silent_p.L981L|CACNA1C_ENST00000399595.1_Silent_p.L981L|CACNA1C_ENST00000399638.1_Silent_p.L981L|CACNA1C_ENST00000335762.5_Silent_p.L1006L|CACNA1C_ENST00000344100.3_Silent_p.L981L|CACNA1C_ENST00000480911.1_Silent_p.L981L|CACNA1C_ENST00000399644.1_Silent_p.L981L|CACNA1C_ENST00000399601.1_Silent_p.L981L|CACNA1C_ENST00000399606.1_Silent_p.L1001L|CACNA1C_ENST00000399649.1_Silent_p.L981L|CACNA1C_ENST00000406454.3_Silent_p.L981L NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1001 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCGTGTCCCTCATCTCCTTTG 0.592000 17 44 0 0 1 0 0 ZRSR1 7310 broad.mit.edu 37 5 112228216 112228216 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:112228216G>A ENST00000391338.1 + 1 904 c.880G>A c.(880-882)Gga>Aga p.G294R REEP5_ENST00000474542.2_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000379638.4_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000545426.1_3'UTR|REEP5_ENST00000504247.1_Intron NM_001204199.1 NP_001191128.1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 breast(1)|skin(1)|stomach(2) 4 TCTGTTTAACGGACGATGGTA 0.468000 25 169 0 0 1 0 0 MCU 90550 broad.mit.edu 37 10 74631154 74631154 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:74631154G>A ENST00000536019.1 + 6 975 c.530G>A c.(529-531)aGa>aAa p.R177K MCU_ENST00000357157.6_Missense_Mutation_p.R205K|MCU_ENST00000605416.1_3'UTR|MCU_ENST00000373053.3_Missense_Mutation_p.R226K NM_001270680.1 NP_001257609.1 Q8NE86 MCU_HUMAN mitochondrial calcium uniporter 226 elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 14 GAGATTAGCAGAAAAGCTGAG 0.433000 42 192 0 0 1 0 0 TRAPPC8 22878 broad.mit.edu 37 18 29410813 29410813 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr18:29410813G>A ENST00000283351.4 - 29 4548 c.4213C>T c.(4213-4215)Cct>Tct p.P1405S TRAPPC8_ENST00000582539.1_Missense_Mutation_p.P1351S NM_014939.3 NP_055754.2 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 1405 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AATACCCTAGGAGTTCCAAGG 0.413000 13 44 0 0 1 0 0 CRTAC1 55118 broad.mit.edu 37 10 99770919 99770919 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:99770919C>T ENST00000370597.3 - 2 555 c.200G>A c.(199-201)gGg>gAg p.G67E CRTAC1_ENST00000298819.4_Missense_Mutation_p.G67E|CRTAC1_ENST00000370591.2_Missense_Mutation_p.G67E NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 67 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) CTCAAAGTCCCCATCATGGTC 0.483000 24 88 0 0 1 0 0 TAS2R39 259285 broad.mit.edu 37 7 142881158 142881158 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:142881158G>A ENST00000446620.1 + 1 647 c.647G>A c.(646-648)gGg>gAg p.G216E NM_176881.2 NP_795362.2 P59534 T2R39_HUMAN taste receptor, type 2, member 39 216 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) TTTAACCTGGGGATTGTGACT 0.468000 46 84 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76501376 76501376 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:76501376G>A ENST00000307431.8 + 11 1993 c.1608G>A c.(1606-1608)ggG>ggA p.G536G CNTNAP4_ENST00000377504.4_Silent_p.G488G|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.G464G|CNTNAP4_ENST00000476707.1_Silent_p.G540G NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 537 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GGTCCCTTGGGAACTTCAGTG 0.438000 12 29 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106064220 106064220 + Missense_Mutation SNP A A G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:106064220A>G ENST00000357242.5 + 3 529 c.355A>G c.(355-357)Ata>Gta p.I119V TBC1D8B_ENST00000481617.2_Missense_Mutation_p.I119V|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.I119V|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.I119V NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 119 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ACAAGGAAAAATAAGAGTAAG 0.338000 14 16 0 0 1 0 0 FAM129A 116496 broad.mit.edu 37 1 184764540 184764540 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:184764540C>T ENST00000367511.3 - 14 2551 c.2358G>A c.(2356-2358)ggG>ggA p.G786G FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 786 Glu-rich. negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 CTGGAAATCCCCCCAACTCCT 0.667000 134 272 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52603882 52603882 + Splice_Site SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:52603882C>T ENST00000395489.2 - 6 475 c.78_splice c.e6-1 p.E27_splice A1CF_ENST00000374001.1_Splice_Site_p.E34_splice|A1CF_ENST00000373997.3_Splice_Site_p.E34_splice|A1CF_ENST00000282641.2_Splice_Site_p.E34_splice|A1CF_ENST00000373995.3_Splice_Site_p.E42_splice|A1CF_ENST00000373993.1_Splice_Site_p.E34_splice|A1CF_ENST00000395495.1_Splice_Site_p.E34_splice NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 34 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding p.E42K(2)|p.E34K(2) NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TGTCCATTTTCCTGCAAATCC 0.413000 16 43 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170062935 170062935 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:170062935C>T ENST00000263816.3 - 39 7580 c.7295G>A c.(7294-7296)aGa>aAa p.R2432K NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2432 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GAAGTAGATTCTATCACTTAC 0.423000 10 35 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13762831 13762831 + Splice_Site SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:13762831C>T ENST00000265104.4 - 60 10385 c.10281_splice c.e60+1 p.K3427_splice NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3427 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCAGGCTTACCTTCAGAGGCA 0.502000 Kartagener syndrome 13 27 0 0 1 0 0 SERPING1 710 broad.mit.edu 37 11 57381937 57381937 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:57381937C>T ENST00000403558.1 + 7 1881 c.1515C>T c.(1513-1515)atC>atT p.I505I SERPING1_ENST00000378324.2_Silent_p.I410I|SERPING1_ENST00000340687.6_Silent_p.I425I|SERPING1_ENST00000278407.4_Silent_p.I462I|SERPING1_ENST00000378323.4_Silent_p.I467I NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 462 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 CCTCCGCCATCTCTGTGGCCC 0.602000 11 43 0 0 1 0 0 ADAM23 8745 broad.mit.edu 37 2 207413062 207413062 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:207413062G>A ENST00000264377.3 + 8 1179 c.851G>A c.(850-852)aGg>aAg p.R284K ADAM23_ENST00000374415.3_Missense_Mutation_p.R284K|ADAM23_ENST00000374416.1_Missense_Mutation_p.R284K NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 284 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TTGAAAAGAAGGAAGAGAGCA 0.413000 14 51 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196879556 196879556 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:196879556G>A ENST00000367416.2 + 6 1079 c.942G>A c.(940-942)tgG>tgA p.W314* CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Nonsense_Mutation_p.W68*|CFHR4_ENST00000251424.4_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 GAAGTTACTGGGATTACATTC 0.403000 12 105 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155447901 155447901 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:155447901G>A ENST00000368346.3 - 3 5399 c.4760C>T c.(4759-4761)tCc>tTc p.S1587F ASH1L_ENST00000392403.3_Missense_Mutation_p.S1587F Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1587 Ser-rich. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TCCTCCAAGGGATAAGCTTGG 0.478000 42 40 0 0 1 0 0 RUNX1 861 broad.mit.edu 37 21 36171685 36171685 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr21:36171685G>A ENST00000344691.4 - 5 2376 c.799C>T c.(799-801)Cct>Tct p.P267S RUNX1_ENST00000399240.1_Missense_Mutation_p.P203S|RUNX1_ENST00000325074.5_Missense_Mutation_p.P282S|RUNX1_ENST00000437180.1_Missense_Mutation_p.P294S|RUNX1_ENST00000300305.3_Missense_Mutation_p.P294S NM_001001890.2 NP_001001890.1 Q01196 RUNX1_HUMAN runt-related transcription factor 1 267 Pro/Ser/Thr-rich. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 452 TGCACAGAAGGAGAGGCAATG 0.517000 T """RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4""" """AML, preB- ALL, T-ALL""" 23 59 0 0 1 0 0 MUM1L1 139221 broad.mit.edu 37 X 105449691 105449691 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:105449691C>T ENST00000337685.2 + 5 1051 c.266C>T c.(265-267)tCa>tTa p.S89L MUM1L1_ENST00000372552.1_Missense_Mutation_p.S89L|MUM1L1_ENST00000357175.2_Missense_Mutation_p.S89L NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 89 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 TATGGAAGATCACTAAAAGTG 0.418000 11 13 0 0 1 0 0 ASIC1 41 broad.mit.edu 37 12 50471792 50471792 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:50471792C>T ENST00000228468.4 + 5 1104 c.719C>T c.(718-720)tCc>tTc p.S240F ASIC1_ENST00000552438.1_Missense_Mutation_p.S274F|ASIC1_ENST00000447966.2_Missense_Mutation_p.S240F NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 240 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GACGAGACGTCCTTCGAAGCA 0.567000 29 94 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857846 9857846 + Silent SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:9857846T>C ENST00000396573.2 - 14 3864 c.3555A>G c.(3553-3555)aaA>aaG p.K1185K GRIN2A_ENST00000330684.3_Silent_p.K1185K|GRIN2A_ENST00000396575.2_Silent_p.K1185K|GRIN2A_ENST00000535259.1_Silent_p.K1028K|GRIN2A_ENST00000562109.1_Silent_p.K1185K|GRIN2A_ENST00000404927.2_Silent_p.K1185K NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1185 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGGAGTAGAGTTTATACTGGT 0.537000 77 326 0 0 1 0 0 TPRX1 284355 broad.mit.edu 37 19 48305460 48305460 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:48305460G>A ENST00000535759.1 - 4 1098 c.1099C>T c.(1099-1101)Ccc>Tcc p.P367S TPRX1_ENST00000543508.1_Missense_Mutation_p.P260S|TPRX1_ENST00000322175.3_Missense_Mutation_p.P270S Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 1 270 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1) 18 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) GCTGGGCTGGGAATCGGGCCT 0.652000 6 30 0 0 1 0 0 TBL2 26608 broad.mit.edu 37 7 72985153 72985153 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:72985153G>A ENST00000305632.5 - 7 1269 c.1028C>T c.(1027-1029)gCc>gTc p.A343V TBL2_ENST00000432538.1_Missense_Mutation_p.A307V|TBL2_ENST00000459913.1_5'UTR NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 343 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) CAAGACCTGGGCGTTGGGGGA 0.617000 25 151 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134073741 134073741 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:134073741C>T ENST00000359428.5 + 29 5004 c.4860C>T c.(4858-4860)acC>acT p.T1620T NUP214_ENST00000451030.1_Silent_p.T1621T|NUP214_ENST00000411637.2_Silent_p.T1610T|NUP214_ENST00000483497.2_Silent_p.T446T P35658 NU214_HUMAN nucleoporin 214kDa 1620 11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CCTCCAGCACCACGTCCATTG 0.577000 T """DEK, SET, ABL1""" """AML, T-ALL""" 55 79 0 0 1 0 0 KCNA2 3737 broad.mit.edu 37 1 111146437 111146437 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:111146437G>A ENST00000485317.1 - 3 1641 c.968C>T c.(967-969)gCc>gTc p.A323V KCNA2_ENST00000316361.4_Missense_Mutation_p.A323V|KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.A323V P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 323 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) TCTCATGCTGGCTTTGAGGGT 0.488000 11 46 0 0 1 0 0 TNNT3 7140 broad.mit.edu 37 11 1956077 1956077 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:1956077C>T ENST00000381558.1 + 13 864 c.585C>T c.(583-585)ctC>ctT p.L195L TNNT3_ENST00000446240.1_Silent_p.L184L|TNNT3_ENST00000381589.3_Silent_p.L201L|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000397304.2_Silent_p.L184L|TNNT3_ENST00000381579.3_Silent_p.L195L|TNNT3_ENST00000360603.3_Silent_p.L197L|TNNT3_ENST00000381548.3_Silent_p.L205L|TNNT3_ENST00000381549.3_Silent_p.L195L|TNNT3_ENST00000278317.6_Silent_p.L203L|TNNT3_ENST00000381561.4_Silent_p.L206L|TNNT3_ENST00000397301.1_Silent_p.L214L P45378 TNNT3_HUMAN troponin T type 3 (skeletal, fast) 214 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) CCAAGGAGCTCTGGGAGACCC 0.612000 35 161 0 0 1 0 0 SULT2A1 6822 broad.mit.edu 37 19 48387042 48387042 + Splice_Site SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:48387042C>T ENST00000222002.3 - 2 276 c.136_splice c.e2-1 p.G46_splice NM_003167.3 NP_003158.2 Q06520 ST2A1_HUMAN sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 46 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) CCAGTTTGTTCCTGGAAAAAG 0.507000 4 31 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152188377 152188377 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:152188377C>T ENST00000368801.2 - 3 5803 c.5728G>A c.(5728-5730)Ggt>Agt p.G1910S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1910 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) TGTTGTTCACCCCTAGATGAC 0.552000 189 3268 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66465411 66465411 + Missense_Mutation SNP G G A rs147639877 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:66465411G>A ENST00000383703.3 - 5 1183 c.580C>T c.(580-582)Cgc>Tgc p.R194C LRIG1_ENST00000273261.3_Missense_Mutation_p.R194C Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 194 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TTGCTCAGGCGAAGAGTTAGC 0.478000 20 65 0 0 1 0 0 GHSR 2693 broad.mit.edu 37 3 172163026 172163026 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:172163026G>A ENST00000241256.2 - 2 1068 c.1026C>T c.(1024-1026)ccC>ccT p.P342P NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 342 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity p.P342P(2) biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TCTGGGAGAAGGGTTCGAATC 0.478000 25 93 0 0 1 0 0 AQP12A 375318 broad.mit.edu 37 2 241631351 241631351 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:241631351C>T ENST00000429564.1 + 1 84 c.21C>T c.(19-21)tcC>tcT p.S7S AQP12A_ENST00000337801.4_Silent_p.S7S Q8IXF9 AQ12A_HUMAN aquaporin 12A 7 integral to membrane transporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(7) 14 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) TTAACGTGTCCCTCTCCTTCT 0.667000 16 87 0 0 1 0 0 BDKRB2 624 broad.mit.edu 37 14 96707465 96707465 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:96707465G>A ENST00000542454.2 + 3 3807 c.719G>A c.(718-720)aGg>aAg p.R240K RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Missense_Mutation_p.R267K|BDKRB2_ENST00000539359.1_Missense_Mutation_p.R240K|BDKRB2_ENST00000554311.1_Missense_Mutation_p.R267K P30411 BKRB2_HUMAN bradykinin receptor B2 267 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) ACAGAGAGGAGGGCCACGGTG 0.567000 9 37 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47422100 47422100 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:47422100C>T ENST00000404338.3 + 1 168 c.168C>T c.(166-168)tcC>tcT p.S56S NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 56 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity ACCATACCTCCGTCCTCAGCA 0.537000 22 68 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179476580 179476580 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:179476580C>T ENST00000589042.1 - 268 50680 c.50456G>A c.(50455-50457)gGa>gAa p.G16819E TTN_ENST00000342175.6_Missense_Mutation_p.G7946E|TTN_ENST00000342992.6_Missense_Mutation_p.G14251E|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7879E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G15178E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G7754E|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15178 Ig-like 101. 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) GACCTCTGTTCCTTCGATGAC 0.458000 27 84 0 0 1 0 0 TOMM22 56993 broad.mit.edu 37 22 39078065 39078065 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:39078065C>T ENST00000216034.4 + 1 113 c.82C>T c.(82-84)Cct>Tct p.P28S NM_020243.4 NP_064628.1 Q9NS69 TOM22_HUMAN translocase of outer mitochondrial membrane 22 homolog (yeast) 28 protein import into mitochondrial outer membrane integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity|receptor activity large_intestine(1)|lung(2) 3 Melanoma(58;0.04) CGCGGAGAAGCCTGAGGAGGA 0.692000 5 21 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21822664 21822664 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:21822664G>A ENST00000216297.2 - 23 3034 c.2696C>T c.(2695-2697)tCc>tTc p.S899F NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 899 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CCAGTTGAGGGACTGTACTCC 0.433000 11 58 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101430917 101430917 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:101430917C>T ENST00000392979.3 + 9 1142 c.781C>T c.(781-783)Ccc>Tcc p.P261S ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.P296S NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 296 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AGCTGCGTTTCCCCTGCATGA 0.348000 HNSCC(74;0.22) 24 102 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51901607 51901607 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:51901607G>A ENST00000268919.4 + 1 1369 c.1213G>A c.(1213-1215)Gaa>Aaa p.E405K NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 405 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GAACCTGGTGGAAATAGGGAA 0.522000 12 53 0 0 1 0 0 CR1L 1379 broad.mit.edu 37 1 207874875 207874875 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:207874875G>A ENST00000508064.2 + 9 1300 c.1240G>A c.(1240-1242)Gaa>Aaa p.E414K CR1L_ENST00000530905.1_Intron NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 414 Sushi 7. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TAAATCATGTGAAACTCCTCC 0.443000 21 106 0 0 1 0 0 LARS2 23395 broad.mit.edu 37 3 45583412 45583412 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:45583412C>T ENST00000415258.1 + 20 2637 c.2496C>T c.(2494-2496)ttC>ttT p.F832F LARS2_ENST00000414984.1_Silent_p.F789F|LARS2_ENST00000265537.3_Silent_p.F832F Q15031 SYLM_HUMAN leucyl-tRNA synthetase 2, mitochondrial 832 leucyl-tRNA aminoacylation mitochondrial matrix ATP binding|leucine-tRNA ligase activity endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) ACCCGGAGTTCCTGCAGCAGC 0.612000 15 49 0 0 1 0 0 MAP10 54627 broad.mit.edu 37 1 232943714 232943714 + Missense_Mutation SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:232943714T>C ENST00000418460.1 + 1 3072 c.2945T>C c.(2944-2946)tTa>tCa p.L982S NM_019090.2 NP_061963.2 microtubule-associated protein 10 TGGAAATCTTTAGAAAAAAGC 0.368000 127 113 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119109765 119109765 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:119109765C>T ENST00000264245.4 + 7 1348 c.816C>T c.(814-816)agC>agT p.S272S NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 272 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GGGAGAACAGCCTGCCTGAGA 0.542000 6 36 0 0 1 0 0 LY6H 4062 broad.mit.edu 37 8 144239833 144239833 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:144239833G>A ENST00000414417.2 - 5 553 c.320C>T c.(319-321)tCa>tTa p.S107L LY6H_ENST00000342752.4_Missense_Mutation_p.S107L|LY6H_ENST00000430474.2_Missense_Mutation_p.S86L NM_001130478.1 NP_001123950.1 O94772 LY6H_HUMAN lymphocyte antigen 6 complex, locus H 86 nervous system development|organ morphogenesis anchored to membrane|plasma membrane endometrium(1)|lung(1)|stomach(2) 4 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CAGATAGTCTGAGAAAAAGTG 0.547000 36 91 0 0 1 0 0 KLK6 5653 broad.mit.edu 37 19 51462448 51462448 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:51462448C>T ENST00000376851.3 - 6 1146 c.707G>A c.(706-708)tGg>tAg p.W236* KLK6_ENST00000456750.2_Nonsense_Mutation_p.W129*|KLK6_ENST00000391808.1_Nonsense_Mutation_p.W129*|KLK6_ENST00000376853.4_Missense_Mutation_p.G108R|KLK6_ENST00000310157.2_Nonsense_Mutation_p.W236*|KLK6_ENST00000594641.1_Nonsense_Mutation_p.W236*|CTB-147C22.8_ENST00000601506.1_RNA NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 236 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) TTTTTGGATCCAGTTCGTGTA 0.542000 36 107 0 0 1 0 0 AVIL 10677 broad.mit.edu 37 12 58203429 58203429 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:58203429C>T ENST00000537081.1 - 8 868 c.869G>A c.(868-870)gGa>gAa p.G290E AVIL_ENST00000257861.3_Missense_Mutation_p.G297E O75366 AVIL_HUMAN advillin 297 Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GGCTCCTTTTCCTTTCCACAC 0.448000 14 65 0 0 1 0 0 PRKG2 5593 broad.mit.edu 37 4 82065402 82065402 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:82065402C>T ENST00000395578.1 - 10 1353 c.1237G>A c.(1237-1239)Gaa>Aaa p.E413K PRKG2_ENST00000418486.2_Missense_Mutation_p.E413K|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.E413K Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 413 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 TGTCTTTTTTCATCATCACGG 0.418000 19 69 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31016149 31016149 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:31016149C>T ENST00000375687.4 + 6 819 c.395C>T c.(394-396)tCg>tTg p.S132L ASXL1_ENST00000306058.5_Missense_Mutation_p.S127L|ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000542461.1_3'UTR NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 132 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 GAAACATCTTCGAACGCATCC 0.488000 """F, N, Mis""" """MDS, CMML""" 63 131 0 0 1 0 0 SSR2 6746 broad.mit.edu 37 1 155981610 155981610 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:155981610G>A ENST00000496742.1 - 3 269 c.224C>T c.(223-225)cCc>cTc p.P75L SSR2_ENST00000480567.1_Silent_p.S144S|SSR2_ENST00000295702.4_Silent_p.S144S|SSR2_ENST00000529008.1_Intron P43308 SSRB_HUMAN signal sequence receptor, beta (translocon-associated protein beta) 178 cotranslational protein targeting to membrane endoplasmic reticulum membrane|integral to membrane signal sequence binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1) 10 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CAAAATGAGGGGAGAATCGCC 0.468000 45 239 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105409245 105409245 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:105409245G>A ENST00000333244.5 - 7 12662 c.12543C>T c.(12541-12543)ctC>ctT p.L4181L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4181 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) ACTGAATGCTGAGGTCAGTGG 0.652000 68 247 0 0 1 0 0 CLRN3 119467 broad.mit.edu 37 10 129676500 129676500 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:129676500G>A ENST00000368671.3 - 3 756 c.594C>T c.(592-594)atC>atT p.I198I NM_152311.3 NP_689524.1 Q8NCR9 CLRN3_HUMAN clarin 3 198 integral to membrane endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235) GGTAGAAAATGATGATGGTTA 0.453000 26 122 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78444685 78444685 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:78444685C>T ENST00000397909.2 + 11 2447 c.2274C>T c.(2272-2274)tcC>tcT p.S758S NAV3_ENST00000266692.7_Silent_p.S758S|NAV3_ENST00000228327.6_Silent_p.S758S|NAV3_ENST00000536525.2_Silent_p.S758S Q8IVL0 NAV3_HUMAN neuron navigator 3 758 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ATGCTCCCTCCCTGGGTGCTG 0.582000 HNSCC(70;0.22) 15 32 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68115619 68115619 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:68115619C>T ENST00000294304.7 + 2 502 c.396C>T c.(394-396)atC>atT p.I132I NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 132 Beta-propeller 1. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCAACCGCATCGAGGTGGCCA 0.637000 31 136 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55136553 55136553 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:55136553C>T ENST00000414150.2 + 7 1828 c.1550C>T c.(1549-1551)tCc>tTc p.S517F MROH7_ENST00000545244.1_Missense_Mutation_p.S85F|MROH7_ENST00000409996.1_Missense_Mutation_p.S85F|MROH7_ENST00000395690.2_Missense_Mutation_p.S517F|MROH7_ENST00000421030.2_Missense_Mutation_p.S517F|MROH7_ENST00000454855.2_Missense_Mutation_p.S35F|MROH7_ENST00000339553.5_Missense_Mutation_p.S517F maestro heat-like repeat family member 7 TCCCTGCCCTCCGTGCAGGCG 0.652000 9 17 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155219524 155219524 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:155219524G>A ENST00000357232.3 - 18 4576 c.4577C>T c.(4576-4578)aCc>aTc p.T1526I NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1526 Cadherin 13. 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) AGGATCAATGGTGAATGCACC 0.488000 45 104 0 0 1 0 0 FIG4 9896 broad.mit.edu 37 6 110146467 110146467 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:110146467G>A ENST00000230124.3 + 23 2847 c.2723G>A c.(2722-2724)tGa>tAa p.*908* FIG4_ENST00000441478.2_Silent_p.*602* NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 0 cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) CGCTACCTGTGAAAAGAGCGC 0.488000 9 30 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10940874 10940874 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:10940874C>T ENST00000314646.5 + 20 2527 c.2363C>T c.(2362-2364)aCt>aTt p.T788I DNM2_ENST00000585892.1_Missense_Mutation_p.T788I|DNM2_ENST00000408974.4_Missense_Mutation_p.T784I|DNM2_ENST00000389253.4_Missense_Mutation_p.T788I|DNM2_ENST00000355667.6_Missense_Mutation_p.T788I|DNM2_ENST00000359692.6_Missense_Mutation_p.T784I P50570 DYN2_HUMAN dynamin 2 788 Pro-rich. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) AGGGGCCCCACTCCAGGGCCC 0.692000 """F, N, Splice, Mis, O""" ETP ALL 35 91 0 0 1 0 0 GMPS 8833 broad.mit.edu 37 3 155632259 155632259 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:155632259C>T ENST00000496455.1 + 8 1273 c.938C>T c.(937-939)tCa>tTa p.S313L GMPS_ENST00000295920.7_Missense_Mutation_p.S214L NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 313 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTACCAATATCAGATGAAGAT 0.353000 T MLL AML 18 71 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53645303 53645303 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:53645303G>A ENST00000452676.2 - 5 1207 c.781C>T c.(781-783)Cct>Tct p.P261S ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.P261S|ZNF347_ENST00000334197.7_Missense_Mutation_p.P260S NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 260 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) GATTTGTAAGGGCTTCCCCAA 0.353000 23 103 0 0 1 0 0 FTH1P3 2498 broad.mit.edu 37 5 17354545 17354545 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:17354545G>A ENST00000511821.1 + 0 404 FTH1P10_ENST00000401830.3_RNA CGGCGACTAAGGAGAGGCGGC 0.682000 8 12 0 0 1 0 0 NEU2 4759 broad.mit.edu 37 2 233899037 233899037 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:233899037C>T ENST00000233840.3 + 2 413 c.413C>T c.(412-414)tCc>tTc p.S138F NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 138 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) ACCTGGAGCTCCCCCAGAGAC 0.647000 7 48 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43924767 43924767 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:43924767G>A ENST00000262726.7 - 32 4725 c.4472C>T c.(4471-4473)tCc>tTc p.S1491F EFCAB6_ENST00000396231.2_Missense_Mutation_p.S1339F|EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000461800.1_5'UTR NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1491 EF-hand 17.|Interaction with AR.|Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) GTCGTTGTAGGAGATTTTTGA 0.498000 69 97 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182852725 182852725 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:182852725C>T ENST00000367549.3 + 26 3325 c.3215C>T c.(3214-3216)tCc>tTc p.S1072F DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 1072 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 CTCTTTGCCTCCAAGAAAGTC 0.413000 18 173 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248603 20248603 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:20248603G>A ENST00000315957.4 + 1 203 c.122G>A c.(121-123)gGa>gAa p.G41E NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G41A(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCCTACCAGGAAATATCCTT 0.423000 59 401 0 0 1 0 0 CARD9 64170 broad.mit.edu 37 9 139265103 139265103 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:139265103C>T ENST00000371732.5 - 5 843 c.678G>A c.(676-678)gtG>gtA p.V226V CARD9_ENST00000315908.7_Silent_p.V226V|CARD9_ENST00000371734.3_Silent_p.V226V NM_052813.4 NP_434700.2 Q9H257 CARD9_HUMAN caspase recruitment domain family, member 9 226 positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis cytoplasm CARD domain binding|protein homodimerization activity endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1) 15 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06) GCTTGCGCTCCACCTTGCAGT 0.657000 19 69 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54922088 54922088 + Silent SNP C C A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:54922088C>A ENST00000293373.6 + 22 2512 c.2433C>A c.(2431-2433)gcC>gcA p.A811A NCKAP1L_ENST00000545638.2_Silent_p.A761A NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 811 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TCTCCCCAGCCATGCAGGCCT 0.542000 44 154 5.20006e-24 5.25322e-24 1 1 0 MYH3 4621 broad.mit.edu 37 17 10532971 10532971 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:10532971G>A ENST00000583535.1 - 40 5826 c.5739C>T c.(5737-5739)atC>atT p.I1913I MYH3_ENST00000226209.7_Silent_p.I1913I NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1913 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 GAGATTCTGCGATATCCGCAC 0.567000 16 55 0 0 1 0 0 GLYATL2 219970 broad.mit.edu 37 11 58607126 58607126 + Splice_Site SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:58607126C>T ENST00000287275.1 - 2 351 c.e2-1 GLYATL2_ENST00000533636.1_Intron|GLYATL2_ENST00000532258.1_Splice_Site NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) AGAAGATGATCTAAGGAAATA 0.383000 4 23 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179614127 179614127 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:179614127G>A ENST00000360870.5 - 46 13222 c.13000C>T c.(13000-13002)Ccc>Tcc p.P4334S TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 468 Ig-like 23. 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) ACAAATCTGGGAATTTTTTCT 0.403000 20 63 0 0 1 0 0 IL2RB 3560 broad.mit.edu 37 22 37524490 37524490 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:37524490G>A ENST00000216223.5 - 10 1500 c.1302C>T c.(1300-1302)ctC>ctT p.L434L NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 434 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GGCCACCGAGGAGACTGGGGG 0.662000 5 57 0 0 1 0 0 SMPD3 55512 broad.mit.edu 37 16 68405878 68405878 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:68405878G>A ENST00000219334.5 - 3 810 c.207C>T c.(205-207)gcC>gcT p.A69A SMPD3_ENST00000563226.1_Silent_p.A69A|SMPD3_ENST00000568373.1_Silent_p.A69A NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 69 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) CCACCAGGAGGGCCAGGTAGA 0.637000 3 22 0 0 1 0 0 FFAR1 2864 broad.mit.edu 37 19 35842700 35842700 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:35842700C>T ENST00000246553.2 + 1 256 c.246C>T c.(244-246)ttC>ttT p.F82F NM_005303.2 NP_005294.1 O14842 FFAR1_HUMAN free fatty acid receptor 1 82 energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) Icosapent(DB00159) GCCCCGTCTTCGCGGTGGCCC 0.701000 4 9 0 0 1 0 0 KLRC2 3822 broad.mit.edu 37 12 10588010 10588010 + Splice_Site SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:10588010C>T ENST00000381902.2 - 2 194 c.e2-1 NKG2-E_ENST00000539033.1_Splice_Site|KLRC2_ENST00000536833.2_Splice_Site|KLRC2_ENST00000381901.1_Splice_Site NM_002260.3 NP_002251.2 P26717 NKG2C_HUMAN killer cell lectin-like receptor subfamily C, member 2 cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 GGCAGTAAACCTGCAGGGAGA 0.448000 13 119 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175375835 175375835 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:175375835C>T ENST00000367674.1 - 3 724 c.16G>A c.(16-18)Gaa>Aaa p.E6K TNR_ENST00000263525.2_Missense_Mutation_p.E6K NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 6 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) ACCACTGTTTCCCCATCTGCC 0.532000 85 117 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74625132 74625132 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:74625132G>A ENST00000321288.5 + 18 2493 c.2493G>A c.(2491-2493)ctG>ctA p.L831L CCDC33_ENST00000398814.3_Silent_p.L628L|CCDC33_ENST00000558821.1_Silent_p.L221L|CCDC33_ENST00000268082.4_Silent_p.L221L Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 831 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GGACGGAGCTGGATAAGAACC 0.612000 24 90 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22364073 22364073 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:22364073G>A ENST00000397121.2 - 3 763 c.446C>T c.(445-447)tCa>tTa p.S149L NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CATGCAAAATGATCTGACATA 0.333000 16 59 0 0 1 0 0 GJA4 2701 broad.mit.edu 37 1 35260324 35260324 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:35260324C>T ENST00000342280.4 + 2 598 c.510C>T c.(508-510)ctC>ctT p.L170L NM_002060.2 NP_002051.2 P35212 CXA4_HUMAN gap junction protein, alpha 4, 37kDa 170 cell-cell junction assembly integral to plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) CAGGCTTCCTCTATGGCCAGT 0.627000 11 28 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72055301 72055301 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:72055301C>T ENST00000555818.1 + 2 1060 c.712C>T c.(712-714)Cca>Tca p.P238S SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P238S|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P238S NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 238 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TGATCGAGGTCCAACTCCAAC 0.423000 24 77 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71747918 71747918 + Splice_Site SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:71747918G>A ENST00000258104.3 + 11 1214 c.e11-1 DYSF_ENST00000429174.2_Splice_Site|DYSF_ENST00000410020.3_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000409582.3_Splice_Site|DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000394120.2_Splice_Site NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GTCTCTCTTAGGGCACGCCTA 0.577000 22 64 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112740536 112740536 + Missense_Mutation SNP G G A rs138908058 byFrequency TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:112740536G>A ENST00000295408.4 + 8 1519 c.1262G>A c.(1261-1263)cGg>cAg p.R421Q MERTK_ENST00000409780.1_Missense_Mutation_p.R245Q|MERTK_ENST00000421804.2_Missense_Mutation_p.R421Q Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 421 Fibronectin type-III 2. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 GTGGGCTACCGGATATCCCAC 0.453000 17 58 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193048987 193048987 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:193048987C>T ENST00000342358.4 - 12 1503 c.1386G>A c.(1384-1386)aaG>aaA p.K462K NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 462 Poly-Lys. ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.K462K(1) NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TTTTCTTTTTCTTCAGTCTCT 0.478000 23 49 0 0 1 0 0 C5orf20 140947 broad.mit.edu 37 5 134782587 134782587 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:134782587C>T ENST00000503143.2 - 1 451 c.212G>A c.(211-213)gGg>gAg p.G71E TIFAB_ENST00000537858.1_3'UTR NM_130848.2 NP_570900.1 Q8TF63 DCNP1_HUMAN chromosome 5 open reading frame 20 71 nucleus endometrium(1)|lung(1)|prostate(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTTGTTCCTCCCTGGAGGGTA 0.602000 9 32 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136593187 136593187 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:136593187C>T ENST00000531224.1 - 8 2241 c.1989G>A c.(1987-1989)agG>agA p.R663R BCLAF1_ENST00000530767.1_Silent_p.R490R|BCLAF1_ENST00000353331.4_Silent_p.R661R|BCLAF1_ENST00000392348.2_Silent_p.R661R|BCLAF1_ENST00000527536.1_Silent_p.R663R|BCLAF1_ENST00000527759.1_Silent_p.R661R NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 663 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GGGTATGCTTCCTCAGGGTAC 0.303000 5 50 0 0 1 0 0 STOX1 219736 broad.mit.edu 37 10 70645791 70645791 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:70645791G>A ENST00000298596.6 + 3 2322 c.2239G>A c.(2239-2241)Gac>Aac p.D747N STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.D747N|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.D637N NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 747 cytoplasm|nucleolus DNA binding breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 TGAGAATGACGACTTACGTCA 0.428000 22 56 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32064385 32064385 + Missense_Mutation SNP C C G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:32064385C>G ENST00000375244.3 - 3 1446 c.1245G>C c.(1243-1245)gaG>gaC p.E415D TNXB_ENST00000375247.2_Missense_Mutation_p.E415D|TNXB_ENST00000479795.1_Missense_Mutation_p.E415D P22105 TENX_HUMAN tenascin XB 415 EGF-like 9. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AGCGGCCGTCCTCGCAGCGGC 0.711000 8 7 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101765776 101765776 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:101765776C>T ENST00000375001.3 + 8 1530 c.1107C>T c.(1105-1107)atC>atT p.I369I NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 369 4 X tandem repeats.|Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) AGGTGCCCATCAGCACTGCTG 0.577000 46 54 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51210213 51210213 + Missense_Mutation SNP G G C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:51210213G>C ENST00000245441.5 - 24 5412 c.5222C>G c.(5221-5223)gCg>gGg p.A1741G NIN_ENST00000453196.1_Missense_Mutation_p.A1741G|NIN_ENST00000389868.3_Missense_Mutation_p.A1028G|NIN_ENST00000382043.4_Missense_Mutation_p.A1028G|NIN_ENST00000382041.3_Missense_Mutation_p.A1741G|NIN_ENST00000324330.9_Missense_Mutation_p.A1741G|NIN_ENST00000530997.2_Missense_Mutation_p.A1741G NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 1741 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) CTTCATCGTCGCAATTCTATG 0.408000 T PDGFRB MPD 6 28 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82785203 82785203 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:82785203G>A ENST00000423517.2 - 2 1091 c.754C>T c.(754-756)Cca>Tca p.P252S PCLO_ENST00000333891.8_Missense_Mutation_p.P252S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 252 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CCTGTACCTGGAGGTTGTGAT 0.473000 9 49 0 0 1 0 0 MOSPD3 64598 broad.mit.edu 37 7 100210471 100210471 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:100210471G>A ENST00000393950.2 + 1 339 c.57G>A c.(55-57)cgG>cgA p.R19R MOSPD3_ENST00000379527.2_Silent_p.R19R|MOSPD3_ENST00000424091.2_Silent_p.R19R|MOSPD3_ENST00000223054.4_Silent_p.R19R NM_023948.4 NP_076438.1 O75425 MSPD3_HUMAN motile sperm domain containing 3 19 integral to membrane structural molecule activity breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) cccctgggcgggggtcccggg 0.736000 30 31 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158596683 158596683 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:158596683C>T ENST00000368148.3 - 41 5959 c.5779G>A c.(5779-5781)Gat>Aat p.D1927N SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.D1924N NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1927 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AAGGCATAATCGTCTTCCAAT 0.448000 25 237 0 0 1 0 0 CAND2 23066 broad.mit.edu 37 3 12857995 12857995 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:12857995C>T ENST00000456430.2 + 10 1605 c.1564C>T c.(1564-1566)Ctc>Ttc p.L522F CAND2_ENST00000295989.5_Missense_Mutation_p.L429F NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 522 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CTTGCCTATCCTCCTGCCACC 0.647000 13 59 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73063712 73063712 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:73063712G>A ENST00000429829.1 - 0 8876 NR_001564.2 TACTACAAAGGAAAGGTGATG 0.398000 12 10 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36898910 36898910 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:36898910C>T ENST00000301807.6 - 12 2418 c.521G>A c.(520-522)gGa>gAa p.G174E TRANK1_ENST00000428977.2_Missense_Mutation_p.G174E|TRANK1_ENST00000429976.2_Missense_Mutation_p.G724E NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 724 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 ATCTTTCTTTCCTTCTTTGCC 0.562000 28 80 0 0 1 0 0 SATB2 23314 broad.mit.edu 37 2 200213792 200213792 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:200213792C>T ENST00000443023.1 - 6 2093 c.628G>A c.(628-630)Gaa>Aaa p.E210K SATB2_ENST00000260926.5_Missense_Mutation_p.E269K|SATB2_ENST00000428695.1_Missense_Mutation_p.E151K|SATB2_ENST00000457245.1_Missense_Mutation_p.E269K|SATB2_ENST00000417098.1_Missense_Mutation_p.E269K Q9UPW6 SATB2_HUMAN SATB homeobox 2 269 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GGAGACTGTTCGTTGGTTTTC 0.498000 13 55 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33927861 33927861 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:33927861C>T ENST00000389232.4 + 26 3292 c.3222C>T c.(3220-3222)ttC>ttT p.F1074F RYR3_ENST00000415757.3_Silent_p.F1074F NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1074 4 X approximate repeats.|B30.2/SPRY 2. 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) TCCGATTTTTCCGGGTAGAGC 0.512000 8 24 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 99690358 99690358 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:99690358G>A ENST00000524871.1 + 4 429 c.139G>A c.(139-141)Ggt>Agt p.G47S CNTN5_ENST00000527185.1_Missense_Mutation_p.G47S|CNTN5_ENST00000528682.1_Missense_Mutation_p.G47S|CNTN5_ENST00000279463.3_Missense_Mutation_p.G47S|CNTN5_ENST00000418526.2_Intron NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 47 cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ATCTCTCTTTGGTTCCAAAAC 0.418000 10 57 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346753 48346753 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:48346753C>T ENST00000319856.4 + 1 282 c.261C>T c.(259-261)ttC>ttT p.F87F NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TGTATTTTTTCCTGGCCAACC 0.453000 10 86 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72294536 72294536 + Missense_Mutation SNP A A C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:72294536A>C ENST00000334456.5 - 20 1919 c.1674T>G c.(1672-1674)aaT>aaG p.N558K PDE2A_ENST00000540345.1_Missense_Mutation_p.N549K|PDE2A_ENST00000544570.1_Missense_Mutation_p.N551K|PDE2A_ENST00000444035.2_Missense_Mutation_p.N549K|PDE2A_ENST00000418754.2_Missense_Mutation_p.N443K|PDE2A_ENST00000376450.3_Missense_Mutation_p.N302K NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 558 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) ACTGAGCCTCATTCACTTTTT 0.522000 17 77 0 0 1 0 0 WDR66 144406 broad.mit.edu 37 12 122405975 122405975 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:122405975C>T ENST00000288912.4 + 17 3525 c.2671C>T c.(2671-2673)Ccg>Tcg p.P891S WDR66_ENST00000397454.2_Missense_Mutation_p.P891S|WDR66_ENST00000545752.1_3'UTR NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 891 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) TGTTTGCCACCCGAACGGGGT 0.522000 23 65 0 0 1 0 0 RBM44 375316 broad.mit.edu 37 2 238726810 238726810 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:238726810C>T ENST00000316997.4 + 3 1383 c.1251C>T c.(1249-1251)atC>atT p.I417I RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Silent_p.I417I NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 416 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) TACCAAAGATCGCAGTCAGAG 0.373000 13 34 0 0 1 0 0 OR2T1 26696 broad.mit.edu 37 1 248569579 248569579 + Missense_Mutation SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:248569579T>C ENST00000366474.1 + 1 284 c.284T>C c.(283-285)aTg>aCg p.M95T NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 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) AATGGGGTTATGATCTTCCTG 0.428000 105 97 0 0 1 0 0 ARSJ 79642 broad.mit.edu 37 4 114823558 114823558 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:114823558C>T ENST00000315366.7 - 2 2538 c.1672G>A c.(1672-1674)Gaa>Aaa p.E558K ARSJ_ENST00000541197.1_Missense_Mutation_p.E558K NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 558 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) ttcttggtttcctcttTATAC 0.448000 5 21 0 0 1 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19408035 19408035 + Missense_Mutation SNP A A G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:19408035A>G ENST00000538714.1 + 5 372 c.368A>G c.(367-369)aAt>aGt p.N123S PLEKHA5_ENST00000424268.1_Missense_Mutation_p.N15S|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.N123S|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.N123S|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.N123S|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.N123S|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.N123S|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.N123S|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.N15S NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 123 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) AGTATGATAAATGAAGCTTCT 0.353000 17 46 0 0 1 0 0 RPL3L 6123 broad.mit.edu 37 16 1996690 1996690 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:1996690C>T ENST00000268661.7 - 7 981 c.887G>A c.(886-888)gGg>gAg p.G296E NM_005061.2 NP_005052.1 Q92901 RL3L_HUMAN ribosomal protein L3-like 296 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 17 CACCAGCTTCCCGTCCTCCAT 0.647000 14 35 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170009450 170009450 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:170009450C>T ENST00000263816.3 - 67 12605 c.12320G>A c.(12319-12321)gGg>gAg p.G4107E NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4107 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGAGCCCTCCCCTCGCACAGT 0.468000 41 187 0 0 1 0 0 KCNA2 3737 broad.mit.edu 37 1 111146436 111146436 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:111146436G>A ENST00000485317.1 - 3 1642 c.969C>T c.(967-969)gcC>gcT p.A323A KCNA2_ENST00000316361.4_Silent_p.A323A|KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000440270.1_Silent_p.A323A P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 323 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) CTCTCATGCTGGCTTTGAGGG 0.488000 12 47 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70553043 70553043 + Splice_Site SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:70553043G>A ENST00000260128.4 + 22 3269 c.2551_splice c.e22-1 p.G851_splice SULF1_ENST00000402687.4_Splice_Site_p.G851_splice|SULF1_ENST00000458141.2_Splice_Site_p.G851_splice|SULF1_ENST00000419716.3_Splice_Site_p.G851_splice|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 851 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CCTATATCAGGAAATAAAGAT 0.328000 10 25 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70517065 70517065 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:70517065C>T ENST00000260128.4 + 13 1992 c.1275C>T c.(1273-1275)tcC>tcT p.S425S SULF1_ENST00000402687.4_Silent_p.S425S|SULF1_ENST00000458141.2_Silent_p.S425S|SULF1_ENST00000419716.3_Silent_p.S425S|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 425 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) AGGAAGAATCCAGCAAGAATA 0.468000 22 95 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196227451 196227451 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:196227451G>A ENST00000367433.5 - 25 3113 c.3012C>T c.(3010-3012)caC>caT p.H1004H KCNT2_ENST00000294725.8_Silent_p.H1028H|KCNT2_ENST00000367431.4_Silent_p.H962H|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1028 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 TTTTACCAGAGTGTTTTGGGC 0.478000 11 76 0 0 1 0 0 CYP4X1 260293 broad.mit.edu 37 1 47489651 47489651 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:47489651C>T ENST00000371901.3 + 1 412 c.162C>T c.(160-162)ttC>ttT p.F54F CYP4X1_ENST00000538609.1_Intron NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 54 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 CCCACTGGTTCCTTGGGCACC 0.701000 7 28 0 0 1 0 0 RHOU 58480 broad.mit.edu 37 1 228871628 228871628 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:228871628G>A ENST00000366691.3 + 1 805 c.139G>A c.(139-141)Ggg>Agg p.G47R NM_021205.5 NP_067028.1 Q7L0Q8 RHOU_HUMAN ras homolog family member U 47 Gly-rich. regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 13 Breast(184;0.162) Prostate(94;0.183) gggtgccgaggggcgcggcgT 0.776000 15 23 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96731866 96731866 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:96731866G>A ENST00000260682.6 + 6 837 c.825G>A c.(823-825)aaG>aaA p.K275K NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 275 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) CCTAGGAAAAGCACAACCAAC 0.353000 20 73 0 0 1 0 0 CDCA7L 55536 broad.mit.edu 37 7 21945200 21945200 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:21945200G>A ENST00000406877.3 - 7 1250 c.971C>T c.(970-972)cCa>cTa p.P324L CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.P290L|CDCA7L_ENST00000373934.4_Missense_Mutation_p.P278L NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 324 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 ATCCTCCACTGGCCGAAAAGA 0.398000 29 58 0 0 1 0 0 NFE2 4778 broad.mit.edu 37 12 54686568 54686568 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:54686568G>A ENST00000540264.2 - 2 1221 c.712C>T c.(712-714)Cct>Tct p.P238S NFE2_ENST00000435572.2_Missense_Mutation_p.P238S|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.P238S|NFE2_ENST00000312156.4_Missense_Mutation_p.P238S Q16621 NFE2_HUMAN nuclear factor, erythroid 2 238 blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 TTGTCCGTAGGAAAAGGAATC 0.582000 11 41 0 0 1 0 0 INSR 3643 broad.mit.edu 37 19 7172373 7172373 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:7172373C>T ENST00000341500.5 - 5 1235 c.1196G>A c.(1195-1197)cGa>cAa p.R399Q INSR_ENST00000302850.5_Missense_Mutation_p.R399Q NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 399 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGCGTAGGATCGGCGGATTTT 0.493000 27 77 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10470146 10470146 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:10470146G>A ENST00000382483.3 - 4 1685 c.1462C>T c.(1462-1464)Cag>Tag p.Q488* NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 488 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GCCCCTATCTGGGCAGAGGGG 0.716000 27 34 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156381462 156381462 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:156381462C>T ENST00000274532.2 - 2 420 c.364G>A c.(364-366)Gat>Aat p.D122N TIMD4_ENST00000407087.3_Missense_Mutation_p.D122N NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 122 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) ATCTTTACATCGTTGAACCAG 0.507000 18 46 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170216647 170216647 + Missense_Mutation SNP G G T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:170216647G>T ENST00000231706.4 - 4 883 c.568C>A c.(568-570)Ctt>Att p.L190I CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 190 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) AGAGCCAGAAGGTCTGGGTAT 0.493000 19 55 1.01871e-10 1.02604e-10 1 1 0 KIAA0753 9851 broad.mit.edu 37 17 6513321 6513321 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:6513321G>A ENST00000361413.3 - 9 2063 c.1705C>T c.(1705-1707)Cct>Tct p.P569S KIAA0753_ENST00000542606.1_Missense_Mutation_p.P270S|KIAA0753_ENST00000589033.1_Missense_Mutation_p.P25S|KIAA0753_ENST00000572370.1_Missense_Mutation_p.P270S NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 569 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) TACCATTTAGGAGACGCTGGT 0.458000 27 103 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50094366 50094366 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:50094366C>T ENST00000376042.1 + 12 4385 c.4087C>T c.(4087-4089)Cac>Tac p.H1363Y CCNB3_ENST00000376038.1_Missense_Mutation_p.H259Y|CCNB3_ENST00000276014.7_Missense_Mutation_p.H1363Y|CCNB3_ENST00000348603.2_Missense_Mutation_p.H259Y Q8WWL7 CCNB3_HUMAN cyclin B3 1363 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) CAAGTATTCTCACCCGTAAGT 0.433000 59 68 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248343782 248343782 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:248343782C>T ENST00000359682.2 + 1 495 c.495C>T c.(493-495)tcC>tcT p.S165S NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCACATTTTCCTTCTCCTTTT 0.423000 155 275 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25427460 25427460 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:25427460C>T ENST00000424208.1 + 0 257 NR_003305.1 GCCCTGGTCTCCTGCATTGAG 0.607000 15 85 0 0 1 0 0 GPRASP1 9737 broad.mit.edu 37 X 101911622 101911622 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:101911622C>T ENST00000537097.1 + 6 3594 c.2781C>T c.(2779-2781)tcC>tcT p.S927S GPRASP1_ENST00000361600.5_Silent_p.S927S|GPRASP1_ENST00000444152.1_Silent_p.S927S|GPRASP1_ENST00000415986.1_Silent_p.S927S|RP4-769N13.7_ENST00000602441.1_RNA NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 927 Glu-rich.|OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GCTGTGTATCCAAGCCAGAGG 0.473000 21 45 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 132 0 0 1 0 0 ZRSR1 7310 broad.mit.edu 37 5 112228217 112228217 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:112228217G>A ENST00000391338.1 + 1 905 c.881G>A c.(880-882)gGa>gAa p.G294E REEP5_ENST00000474542.2_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000379638.4_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000545426.1_3'UTR|REEP5_ENST00000504247.1_Intron NM_001204199.1 NP_001191128.1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 breast(1)|skin(1)|stomach(2) 4 CTGTTTAACGGACGATGGTAT 0.463000 26 168 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 6 43 0 0 1 0 0 INHBB 3625 broad.mit.edu 37 2 121107067 121107067 + Missense_Mutation SNP C C T rs144228850 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:121107067C>T ENST00000295228.3 + 2 887 c.841C>T c.(841-843)Cgg>Tgg p.R281W NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 281 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) GGTGCAGGCTCGGCTGGGCGA 0.642000 20 84 0 0 1 0 0 OR1D5 8386 broad.mit.edu 37 17 2966538 2966538 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:2966538G>A ENST00000575751.1 - 1 363 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_014566.1 NP_055381.1 P58170 OR1D5_HUMAN olfactory receptor, family 1, subfamily D, member 5 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122C(2) kidney(1)|lung(10) 11 GCCACATAGCGATCATACGCC 0.567000 9 45 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31570434 31570434 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:31570434G>A ENST00000379416.3 - 29 3278 c.3230C>T c.(3229-3231)cCc>cTc p.P1077L NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 1077 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GGCAGCCGTGGGAGAGGTGTT 0.567000 26 85 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117672446 117672446 + Silent SNP G G A rs41413747 byFrequency TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:117672446G>A ENST00000317775.6 - 21 3844 c.3159C>T c.(3157-3159)atC>atT p.I1053I NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.I1087I NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1053 FAD-binding FR-type. 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) CCAGCCGCTCGATCAGGGCAT 0.627000 14 35 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 107005420 107005420 + Missense_Mutation SNP C C A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:107005420C>A ENST00000369701.3 + 21 3216 c.2989C>A c.(2989-2991)Cat>Aat p.H997N SORCS3_ENST00000369699.4_3'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 997 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GATTGCAGTTCATGGTAAGCC 0.488000 22 26 7.41877e-09 7.45873e-09 1 1 0 FAM189B 10712 broad.mit.edu 37 1 155217906 155217906 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:155217906G>A ENST00000361361.2 - 11 2277 c.1768C>T c.(1768-1770)Cgt>Tgt p.R590C FAM189B_ENST00000368368.3_Missense_Mutation_p.R572C|FAM189B_ENST00000350210.2_Missense_Mutation_p.R494C NM_006589.2 NP_006580.2 P81408 F189B_HUMAN family with sequence similarity 189, member B 590 integral to membrane WW domain binding p.R590C(1) breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 TGGAGGAAACGAGTGACCAGG 0.607000 9 50 0 0 1 0 0 GATA3 2625 broad.mit.edu 37 10 8115860 8115860 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:8115860C>T ENST00000379328.3 + 6 1777 c.1209C>T c.(1207-1209)tcC>tcT p.S403S GATA3_ENST00000346208.3_Silent_p.S402S|GATA3_ENST00000461472.1_3'UTR NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 402 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 ACATGTCCTCCCTGAGCCACA 0.582000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 24 74 0 0 1 0 0 CD74 972 broad.mit.edu 37 5 149784693 149784693 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:149784693C>T ENST00000353334.6 - 5 671 c.492G>A c.(490-492)gaG>gaA p.E164E CD74_ENST00000377795.3_Intron|CD74_ENST00000009530.7_Silent_p.E164E|CD74_ENST00000524315.1_Intron NM_001025159.2|NM_004355.3 NP_001020330.1|NP_004346.1 P04233 HG2A_HUMAN CD74 molecule, major histocompatibility complex, class II invariant chain 164 antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTCTCAGGTTCTCCGGGAAGC 0.562000 T ROS1 NSCLC 47 71 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28378750 28378750 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:28378750G>A ENST00000337532.5 - 13 1249 c.973C>T c.(973-975)Cgt>Tgt p.R325C MPP7_ENST00000540098.1_Missense_Mutation_p.R325C|MPP7_ENST00000375719.3_Missense_Mutation_p.R325C|MPP7_ENST00000375732.1_Missense_Mutation_p.R325C|MPP7_ENST00000445954.2_Missense_Mutation_p.R200C NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 325 establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 CTACTAAGACGAAAACTTTTT 0.318000 12 45 0 0 1 0 0 WFDC6 140870 broad.mit.edu 37 20 44163099 44163099 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:44163099C>T ENST00000600168.1 - 4 528 c.441G>A c.(439-441)caG>caA p.Q147Q WFDC6_ENST00000372670.3_3'UTR WAP four-disulfide core domain 6 breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 Myeloproliferative disorder(115;0.0122) GAGCCAAATCCTGGAGGTTAT 0.493000 50 104 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559231 140559231 + Missense_Mutation SNP C C A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140559231C>A ENST00000239444.2 + 1 1861 c.1616C>A c.(1615-1617)tCc>tAc p.S539Y NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 539 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACCGCGGCTCCCCGGCTTTG 0.672000 32 348 9.65021e-13 9.7313e-13 1 1 0 ADCY4 196883 broad.mit.edu 37 14 24793396 24793396 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:24793396G>A ENST00000310677.4 - 17 2031 c.1918C>T c.(1918-1920)Ctg>Ttg p.L640L ADCY4_ENST00000554068.2_Silent_p.L640L|ADCY4_ENST00000418030.2_Silent_p.L640L|ADCY4_ENST00000396747.3_Silent_p.L333L NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 640 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) GGGCCTTTCAGGACACACCTC 0.627000 15 59 0 0 1 0 0 STYK1 55359 broad.mit.edu 37 12 10777392 10777392 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:10777392C>T ENST00000075503.3 - 8 1304 c.784G>A c.(784-786)Gat>Aat p.D262N NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 262 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 GCAGTGAGATCACTTTGCATC 0.473000 HNSCC(73;0.22) 33 145 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 99548225 99548225 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:99548225G>A ENST00000550693.2 - 1 299 c.46C>T c.(46-48)Ccc>Tcc p.P16S ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000546568.1_Missense_Mutation_p.P16S|ANKS1B_ENST00000332712.7_Missense_Mutation_p.P16S|ANKS1B_ENST00000546960.1_Missense_Mutation_p.P16S|ANKS1B_ENST00000549558.2_Missense_Mutation_p.P16S|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000549493.2_Missense_Mutation_p.P16S NM_001204069.1|NM_001204070.1 NP_001190998.1|NP_001190999.1 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 0 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CCGTCCACGGGGTAATAGCGG 0.532000 11 55 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8620596 8620596 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:8620596C>T ENST00000338257.8 - 2 355 c.88G>A c.(88-90)Gaa>Aaa p.E30K NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 30 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 ATGGCGTCTTCGGTGATCTGG 0.617000 18 73 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63157006 63157006 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:63157006G>A ENST00000449996.3 + 6 474 c.402G>A c.(400-402)ggG>ggA p.G134G RGS9_ENST00000262406.9_Silent_p.G134G|RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Silent_p.G134G NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 134 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 AAAAGAAAGGGATTTTGGAAG 0.388000 16 64 0 0 1 0 0 OR7E24 26648 broad.mit.edu 37 19 9362376 9362376 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:9362376C>T ENST00000456448.1 + 1 771 c.657C>T c.(655-657)ttC>ttT p.F219F NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TCATATATTTCATGGGTGCCA 0.423000 4 23 0 0 1 0 0 LSM10 84967 broad.mit.edu 37 1 36859538 36859538 + Missense_Mutation SNP G G T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:36859538G>T ENST00000315732.2 - 2 342 c.193C>A c.(193-195)Cat>Aat p.H65N LSM10_ENST00000476041.1_5'UTR NM_032881.1 NP_116270.1 Q969L4 LSM10_HUMAN LSM10, U7 small nuclear RNA associated 65 histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription Cajal body|U7 snRNP histone pre-mRNA DCP binding|protein binding upper_aerodigestive_tract(1)|urinary_tract(1) 2 Myeloproliferative disorder(586;0.0393) TTGACCTGATGCCCCCAACGG 0.572000 17 54 4.7546e-09 4.78307e-09 1 1 0 OR10J3 441911 broad.mit.edu 37 1 159284287 159284287 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:159284287G>A ENST00000332217.5 - 1 162 c.163C>T c.(163-165)Cat>Tat p.H55Y NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H55Y(1)|p.H55D(1) breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) GTGTGAAGATGATGGTCCAGG 0.468000 134 136 0 0 1 0 0 THOC5 8563 broad.mit.edu 37 22 29908045 29908045 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:29908045C>T ENST00000490103.1 - 18 1884 c.1762G>A c.(1762-1764)Ggg>Agg p.G588R THOC5_ENST00000397873.2_Missense_Mutation_p.G588R|THOC5_ENST00000397872.1_Missense_Mutation_p.G588R|THOC5_ENST00000397871.1_Missense_Mutation_p.G588R NM_003678.4 NP_003669.4 Q13769 THOC5_HUMAN THO complex 5 588 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GTTTTCTCCCCTTTCCAGTTC 0.582000 13 35 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10317785 10317785 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:10317785G>A ENST00000403437.2 - 10 916 c.822C>T c.(820-822)tcC>tcT p.S274S CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 274 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 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 AAGTAACTCTGGACTTTTCTA 0.348000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 4 14 0 0 1 0 0 PAX2 5076 broad.mit.edu 37 10 102541064 102541064 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:102541064C>T ENST00000370296.2 + 5 1108 c.558C>T c.(556-558)tcC>tcT p.S186S PAX2_ENST00000361791.3_Silent_p.S186S|PAX2_ENST00000556085.1_Silent_p.S185S|PAX2_ENST00000355243.3_Silent_p.S186S|PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000428433.1_Silent_p.S186S Q02962 PAX2_HUMAN paired box 2 186 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) GATCCTACTCCATCAATGGGA 0.557000 35 111 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56149244 56149244 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr18:56149244G>A ENST00000361673.3 - 13 6537 c.6324C>T c.(6322-6324)tcC>tcT p.S2108S NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 2108 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TGAAGGTCATGGAACAGTTGC 0.378000 16 58 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101924127 101924127 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:101924127C>T ENST00000437600.4 + 20 2142 c.1790C>T c.(1789-1791)cCc>cTc p.P597L CUX1_ENST00000393824.3_Missense_Mutation_p.P560L|CUX1_ENST00000292538.4_Missense_Mutation_p.P599L|CUX1_ENST00000425244.2_Missense_Mutation_p.P553L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Missense_Mutation_p.P583L NM_181500.2 NP_852477.1 P39880 CUX1_HUMAN cut-like homeobox 1 186 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 AGCTTGAGTCCCTGGGACAAG 0.642000 11 42 0 0 1 0 0 GGH 8836 broad.mit.edu 37 8 63939747 63939747 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:63939747G>A ENST00000260118.6 - 4 755 c.353C>T c.(352-354)tCc>tTc p.S118F GGH_ENST00000518113.1_5'UTR NM_003878.2 NP_003869.1 Q92820 GGH_HUMAN gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) 118 Gamma-glutamyl hydrolase. glutamine metabolic process extracellular space|lysosome|melanosome gamma-glutamyl-peptidase activity breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1) 11 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|L-Glutamic Acid(DB00142) TACCTGTATGGACAAGTTATA 0.368000 27 76 0 0 1 0 0 PHF12 57649 broad.mit.edu 37 17 27240231 27240231 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:27240231G>A ENST00000577226.1 - 9 1704 c.1358C>T c.(1357-1359)cCt>cTt p.P453L PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Missense_Mutation_p.P453L|PHF12_ENST00000268756.3_Missense_Mutation_p.P453L Q96QT6 PHF12_HUMAN PHD finger protein 12 453 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) CCAATGCGAAGGCATCTGCTT 0.498000 25 139 0 0 1 0 0 IMP4 92856 broad.mit.edu 37 2 131103684 131103684 + Splice_Site SNP C C T rs147137797 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:131103684C>T ENST00000259239.3 + 7 1396 c.689_splice c.e7+1 p.R230_splice IMP4_ENST00000409935.1_Splice_Site_p.R230_splice NM_033416.1 NP_219484.1 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) 230 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 18 Colorectal(110;0.1) CATATCATTCCGGTGGGTCCA 0.592000 17 60 0 0 1 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227509 56227509 + Missense_Mutation SNP C C G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:56227509C>G ENST00000341744.3 - 4 783 c.464G>C c.(463-465)gGg>gCg p.G155A PMEPA1_ENST00000395814.1_Missense_Mutation_p.G105A|PMEPA1_ENST00000265626.4_Missense_Mutation_p.G105A|PMEPA1_ENST00000347215.4_Missense_Mutation_p.G120A|PMEPA1_ENST00000395816.3_Missense_Mutation_p.G105A NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 155 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GGGCTCCTCCCCGTCTGACAG 0.692000 4 56 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237664159 237664159 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:237664159C>T ENST00000366574.2 + 21 2669 c.2352C>T c.(2350-2352)atC>atT p.I784I RYR2_ENST00000542537.1_Silent_p.I768I|RYR2_ENST00000360064.6_Silent_p.I782I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 784 B30.2/SPRY 1. 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) ATTTCAACATCGATGGCCTCT 0.403000 17 180 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41385213 41385213 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr21:41385213C>T ENST00000400454.1 - 33 6264 c.5787G>A c.(5785-5787)ttG>ttA p.L1929L NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1929 HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCTGAGGTTCCAAGCATGCTT 0.572000 10 39 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126240210 126240210 + Missense_Mutation SNP A A C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:126240210A>C ENST00000394329.3 + 1 2657 c.2644A>C c.(2644-2646)Aca>Cca p.T882P NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 882 Cadherin 8. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GGTTAACATAACAGTTAAGGA 0.453000 12 36 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166892578 166892578 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:166892578C>T ENST00000423058.2 - 16 3426 c.3409G>A c.(3409-3411)Gat>Aat p.D1137N SCN1A_ENST00000409050.1_Missense_Mutation_p.D1109N|SCN1A_ENST00000375405.3_Missense_Mutation_p.D1126N|SCN1A_ENST00000303395.4_Missense_Mutation_p.D1137N|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1137 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCTTCCAGATCCGATTCACTA 0.363000 16 85 0 0 1 0 0 SLC28A1 9154 broad.mit.edu 37 15 85478742 85478742 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:85478742G>A ENST00000394573.1 + 15 1776 c.1574G>A c.(1573-1575)tGg>tAg p.W525* SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537216.1_Nonsense_Mutation_p.W525*|SLC28A1_ENST00000286749.3_Nonsense_Mutation_p.W525*|SLC28A1_ENST00000537624.1_Nonsense_Mutation_p.W525* NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 525 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGGAAGCAGTGGATCTCCGTG 0.637000 29 98 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 651188 651188 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:651188G>A ENST00000255622.6 + 10 1349 c.1306G>A c.(1306-1308)Gac>Aac p.D436N PDE6B_ENST00000429163.2_Missense_Mutation_p.D157N|PDE6B_ENST00000496514.1_Missense_Mutation_p.D436N NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 436 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CGACACCTACGACAAGATGAA 0.607000 23 43 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141708471 141708471 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:141708471G>A ENST00000475668.2 + 3 347 c.293G>A c.(292-294)cGa>cAa p.R98Q MGAM_ENST00000549489.2_Missense_Mutation_p.R98Q O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 98 P-type 1. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.R98Q(3) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GAATTGGAACGAATTAATTGC 0.403000 47 42 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2622102 2622102 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:2622102G>A ENST00000399655.1 + 9 1607 c.1342G>A c.(1342-1344)Gat>Aat p.D448N CACNA1C_ENST00000399597.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D448N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D448N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D448N|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D448N NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 448 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CGAAGACATCGATCCTGAGAA 0.567000 7 19 0 0 1 0 0 ZNF20 7568 broad.mit.edu 37 19 12243715 12243715 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:12243715C>T ENST00000334213.5 - 4 1510 c.1286G>A c.(1285-1287)gGa>gAa p.G429E ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR NM_001203250.1|NM_021143.3 NP_001190179.1|NP_066966.2 P17024 ZNF20_HUMAN zinc finger protein 20 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|lung(6) 8 GAATGCTTTTCCACATTGCTT 0.403000 11 43 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20790147 20790147 + Missense_Mutation SNP A A C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:20790147A>C ENST00000359062.3 + 9 2155 c.2115A>C c.(2113-2115)agA>agC p.R705S PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 705 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) ATATAGGAAGAAAATGTGGCC 0.343000 7 20 0 0 1 0 0 PIK3R6 146850 broad.mit.edu 37 17 8731916 8731916 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:8731916C>T ENST00000311434.9 - 11 1520 c.1281G>A c.(1279-1281)ctG>ctA p.L427L PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 427 platelet activation cytosol CCAGGCGCCCCAGCATCCTGT 0.721000 11 30 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139209810 139209810 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:139209810G>A ENST00000395297.1 - 8 942 c.772C>T c.(772-774)Cac>Tac p.H258Y NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 258 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACCAGGAAGTGGAGACGGAGA 0.607000 HNSCC(54;0.14) 26 59 0 0 1 0 0 INSC 387755 broad.mit.edu 37 11 15212337 15212337 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:15212337C>T ENST00000379554.3 + 6 857 c.811C>T c.(811-813)Ccc>Tcc p.P271S INSC_ENST00000528567.1_Missense_Mutation_p.P224S|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Missense_Mutation_p.P224S|INSC_ENST00000525218.1_Missense_Mutation_p.P224S|INSC_ENST00000424273.1_Missense_Mutation_p.P224S|INSC_ENST00000530161.1_Missense_Mutation_p.P224S NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 271 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 GGAGGGGGCTCCCTTGTGCCG 0.517000 31 89 0 0 1 0 0 MMD2 221938 broad.mit.edu 37 7 4949592 4949592 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:4949592G>A ENST00000404774.3 - 6 723 c.529C>T c.(529-531)Ctt>Ttt p.L177F MMD2_ENST00000406755.1_Intron|MMD2_ENST00000401401.3_Intron NM_001100600.1 NP_001094070.1 Q8IY49 PAQRA_HUMAN monocyte to macrophage differentiation-associated 2 177 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) CTGGCAGGAAGACAAGCCGTG 0.577000 13 67 0 0 1 0 0 TCF7L2 6934 broad.mit.edu 37 10 114925411 114925411 + Missense_Mutation SNP C C T rs61724286 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:114925411C>T ENST00000545257.1 + 15 2047 c.1540C>T c.(1540-1542)Ccg>Tcg p.P514S TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000536810.1_Missense_Mutation_p.P497S|TCF7L2_ENST00000543371.1_Missense_Mutation_p.P497S|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000355995.4_Missense_Mutation_p.P514S|TCF7L2_ENST00000369389.1_3'UTR|TCF7L2_ENST00000542695.1_Missense_Mutation_p.P230S|TCF7L2_ENST00000369397.4_Missense_Mutation_p.P491S Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 514 anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) TCCCCCCTCCCCGAACCTGCT 0.597000 T VTI1A colorectal 35 135 0 0 1 0 0 SNX32 254122 broad.mit.edu 37 11 65618258 65618258 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:65618258G>A ENST00000308342.6 + 6 960 c.535G>A c.(535-537)Gga>Aga p.G179R NM_152760.2 NP_689973.2 Q86XE0 SNX32_HUMAN sorting nexin 32 179 cell communication|protein transport phosphatidylinositol binding endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 READ - Rectum adenocarcinoma(159;0.171) GGAGCTCCTCGGAGGGTTTCT 0.587000 11 28 0 0 1 0 0 LTA 4049 broad.mit.edu 37 6 31540580 31540580 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:31540580C>T ENST00000454783.1 + 2 319 c.61C>T c.(61-63)Ctt>Ttt p.L21F LTA_ENST00000418386.2_Missense_Mutation_p.L21F NM_001159740.2 NP_001153212.1 P01374 TNFB_HUMAN lymphotoxin alpha 21 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Etanercept(DB00005) ACACCTCCTCCTTCTGGGGCT 0.612000 21 104 0 0 1 0 0 ADIPOQ 9370 broad.mit.edu 37 3 186572002 186572002 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:186572002G>A ENST00000412955.2 + 3 385 c.244G>A c.(244-246)Gaa>Aaa p.E82K ADIPOQ_ENST00000320741.2_Missense_Mutation_p.E82K|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.E82K|ADIPOQ-AS1_ENST00000422718.1_RNA Q15848 ADIPO_HUMAN adiponectin, C1Q and collagen domain containing 82 Collagen-like. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2) 16 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) AGACATCGGTGAAACCGGAGT 0.507000 16 33 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179438227 179438227 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:179438227G>A ENST00000589042.1 - 326 72856 c.72632C>T c.(72631-72633)tCa>tTa p.S24211L TTN_ENST00000342175.6_Missense_Mutation_p.S15338L|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S21643L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S15271L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S22570L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S15146L|TTN-AS1_ENST00000586707.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22570 Ig-like 121. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.S15338L(1)|p.S21641L(1)|p.S15146L(1)|p.S15271L(1) 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) CACAGGCTCTGATTCCAGTGG 0.443000 39 81 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077647 19077647 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:19077647G>A ENST00000329773.2 - 2 390 c.303C>T c.(301-303)ttC>ttT p.F101F NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 101 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 AGAAGCTAGGGAAATTGATGG 0.557000 22 75 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154026786 154026786 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:154026786C>T ENST00000368559.3 - 25 3472 c.3401G>A c.(3400-3402)gGg>gAg p.G1134E NUP210L_ENST00000368553.1_Missense_Mutation_p.G67E|NUP210L_ENST00000271854.3_Missense_Mutation_p.G1134E NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1134 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) AACAATCTTCCCTGTAACTTG 0.473000 66 85 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371488 240371488 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:240371488G>A ENST00000319653.9 + 5 3606 c.3376G>A c.(3376-3378)Gga>Aga p.G1126R NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1126 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCTCTACCCGGAGCGGGCAT 0.721000 5 43 0 0 1 0 0 ZNF683 257101 broad.mit.edu 37 1 26691222 26691222 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:26691222C>T ENST00000436292.1 - 4 935 c.815G>A c.(814-816)cGa>cAa p.R272Q ZNF683_ENST00000374204.1_Missense_Mutation_p.R272Q|ZNF683_ENST00000349618.3_Missense_Mutation_p.R272Q|ZNF683_ENST00000403843.1_Missense_Mutation_p.R272Q Q8IZ20 ZN683_HUMAN zinc finger protein 683 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) ACCTGGATTTCGGGCCTGGGA 0.652000 18 67 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25026685 25026685 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr13:25026685C>T ENST00000381989.3 - 24 2978 c.2873G>A c.(2872-2874)cGa>cAa p.R958Q NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 958 VWFA. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) GCTAAGATATCGGAGTGTTTT 0.493000 27 89 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179562937 179562937 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:179562937G>A ENST00000444136.1 + 3 825 c.575G>A c.(574-576)aGa>aAa p.R192K TDRD5_ENST00000294848.8_Missense_Mutation_p.R192K|TDRD5_ENST00000367614.1_Missense_Mutation_p.R192K NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 192 Lotus/OST-HTH 2. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 GAGCAGACCAGAGCAGGTTCT 0.433000 6 83 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44573117 44573117 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:44573117C>T ENST00000289547.4 - 8 2377 c.2322G>A c.(2320-2322)ctG>ctA p.L774L NPC1L1_ENST00000423141.1_3'UTR|NPC1L1_ENST00000546276.1_Silent_p.L774L|NPC1L1_ENST00000381160.3_Silent_p.L774L NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 774 SSD. cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GGCCAGAGGTCAGGGCAAAGG 0.637000 31 69 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161010736 161010736 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:161010736C>T ENST00000447678.1 - 25 3916 c.3796G>A c.(3796-3798)Gag>Aag p.E1266K LPA_ENST00000316300.5_Missense_Mutation_p.E1266K NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3774 Kringle 11. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GGGCTTTGCTCCGTTGGTGCT 0.448000 17 34 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 4 131 0 0 1 0 0 BARX2 8538 broad.mit.edu 37 11 129306795 129306795 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:129306795G>A ENST00000281437.4 + 2 433 c.337G>A c.(337-339)Ggc>Agc p.G113S BARX2_ENST00000526127.1_5'UTR NM_003658.4 NP_003649.2 Q9UMQ3 BARX2_HUMAN BARX homeobox 2 113 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) GGCCCCAGGGGGCGAGGCCCT 0.682000 10 22 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38797432 38797432 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:38797432C>T ENST00000449082.2 - 10 1307 c.1308G>A c.(1306-1308)ggG>ggA p.G436G NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 436 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TTGTGTCAATCCCTAGTGCTG 0.498000 21 73 0 0 1 0 0 S100A8 6279 broad.mit.edu 37 1 153362944 153362944 + Missense_Mutation SNP T T A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:153362944T>A ENST00000368733.3 - 2 237 c.68A>T c.(67-69)aAg>aTg p.K23M S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.K23M NM_002964.4 NP_002955.2 P05109 S10A8_HUMAN S100 calcium binding protein A8 23 EF-hand 1. chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GAAATTCCCCTTTATCAGGGA 0.532000 145 231 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61830697 61830697 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:61830697G>A ENST00000280772.1 - 37 10133 c.9942C>T c.(9940-9942)gtC>gtT p.V3314V ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3314 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTGAATCACTGACGTCTGCCC 0.438000 21 94 0 0 1 0 0 SGCA 6442 broad.mit.edu 37 17 48246470 48246470 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:48246470G>A ENST00000262018.3 + 6 638 c.602G>A c.(601-603)gGt>gAt p.G201D SGCA_ENST00000451235.2_Missense_Mutation_p.G99D|SGCA_ENST00000344627.6_Intron|SGCA_ENST00000543315.1_Intron|SGCA_ENST00000513942.1_Intron NM_000023.2 NP_000014.1 Q16586 SGCA_HUMAN sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 201 muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding p.G201D(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1) 14 ATTAAGGTGGGTTCTGCCTCA 0.577000 OREG0024558 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 81 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49032908 49032908 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:49032908C>T ENST00000226432.4 + 11 1622 c.1439C>T c.(1438-1440)aCc>aTc p.T480I CWH43_ENST00000513409.1_Missense_Mutation_p.T453I NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 480 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 AATGACTTAACCATGTGGCTA 0.418000 34 90 0 0 1 0 0 SYT3 84258 broad.mit.edu 37 19 51133351 51133351 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:51133351G>A ENST00000338916.4 - 3 1385 c.752C>T c.(751-753)cCt>cTt p.P251L SYT3_ENST00000600079.1_Missense_Mutation_p.P251L|SYT3_ENST00000593901.1_Missense_Mutation_p.P251L|SYT3_ENST00000544769.1_Missense_Mutation_p.P251L NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 251 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GGGCAGGGCAGGTGGCCGCTC 0.672000 11 41 0 0 1 0 0 HIST2H2BB 338391 broad.mit.edu 37 1 149375130 149375130 + RNA SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:149375130T>C ENST00000415338.1 - 0 1061 TTTAAGTTTTTCCACTGGAAT 0.453000 18 226 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10310211 10310211 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:10310211G>A ENST00000403437.2 - 18 2145 c.2051C>T c.(2050-2052)cCt>cTt p.P684L CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 684 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 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 TGTCTTACCAGGAGTTTTGGT 0.383000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 7 41 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140249970 140249970 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140249970G>A ENST00000398640.2 + 1 1282 c.1282G>A c.(1282-1284)Gat>Aat p.D428N PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACTGCGCGGGATGGGGGTTC 0.622000 44 189 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21715879 21715879 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:21715879G>A ENST00000261195.2 - 7 1289 c.1035C>T c.(1033-1035)tcC>tcT p.S345S NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 345 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GCCTGGATAAGGATTCTAGGA 0.393000 26 80 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152284195 152284195 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:152284195G>A ENST00000368799.1 - 3 3202 c.3167C>T c.(3166-3168)tCt>tTt p.S1056F FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1056 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTGACTGCAGATGAAGCTTG 0.557000 Ichthyosis 422 631 0 0 1 0 0 ARGFX 503582 broad.mit.edu 37 3 121305409 121305409 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:121305409C>T ENST00000334384.3 + 4 920 c.910C>T c.(910-912)Cag>Tag p.Q304* NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 304 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) CCTGGAATTCCAGAAAACCTC 0.433000 20 57 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73558935 73558935 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:73558935C>T ENST00000224721.6 + 50 7142 c.7137C>T c.(7135-7137)gcC>gcT p.A2379A CDH23_ENST00000398788.3_Silent_p.A134A|CDH23_ENST00000475158.1_3'UTR NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2374 Cadherin 22. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CCGTGAGGGCCTCAGACAACG 0.577000 15 49 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50589250 50589250 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:50589250G>A ENST00000262794.5 + 21 2897 c.2814G>A c.(2812-2814)ttG>ttA p.L938L MOV10L1_ENST00000395843.1_Intron|MOV10L1_ENST00000395852.1_Silent_p.L65L|MOV10L1_ENST00000395858.3_Silent_p.L938L|MOV10L1_ENST00000545383.1_Silent_p.L938L|MOV10L1_ENST00000540615.1_Silent_p.L918L|MOV10L1_ENST00000354853.2_Intron NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 938 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TGTCCTTTTTGGAACGGCTGA 0.582000 7 45 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7981578 7981578 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:7981578C>T ENST00000328600.2 - 2 1742 c.1581G>A c.(1579-1581)tcG>tcA p.S527S NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 527 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCTCCAAGTTCGAGAAGCTGT 0.443000 12 45 0 0 1 0 0 SLC22A2 6582 broad.mit.edu 37 6 160662618 160662618 + Splice_Site SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:160662618C>T ENST00000366953.3 - 9 1647 c.1388_splice c.e9-1 p.R463_splice SLC22A2_ENST00000491092.1_5'UTR NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 463 R -> K (in dbSNP:rs3907239). body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) CGCCAAGATTCCTAGAATGCA 0.443000 4 11 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55782888 55782888 + Missense_Mutation SNP G G A rs34553661 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:55782888G>A ENST00000373965.2 - 20 2705 c.2311C>T c.(2311-2313)Cgt>Tgt p.R771C PCDH15_ENST00000361849.3_Missense_Mutation_p.R764C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.R764C|PCDH15_ENST00000414778.1_Missense_Mutation_p.R769C|PCDH15_ENST00000373955.1_Missense_Mutation_p.R764C|PCDH15_ENST00000395432.2_Missense_Mutation_p.R727C|PCDH15_ENST00000395430.1_Missense_Mutation_p.R764C|PCDH15_ENST00000395438.1_Missense_Mutation_p.R764C|PCDH15_ENST00000395445.1_Missense_Mutation_p.R771C|PCDH15_ENST00000409834.1_Missense_Mutation_p.R375C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R742C|PCDH15_ENST00000437009.1_Missense_Mutation_p.R693C NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 764 Cadherin 7. 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) GATGTGATACGAAAAAGATTA 0.368000 HNSCC(58;0.16) 14 31 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38674644 38674644 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:38674644G>A ENST00000413689.1 - 2 348 c.155C>T c.(154-156)cCc>cTc p.P52L SCN5A_ENST00000333535.4_Missense_Mutation_p.P52L|SCN5A_ENST00000425664.1_Missense_Mutation_p.P52L|SCN5A_ENST00000449557.2_Missense_Mutation_p.P52L|SCN5A_ENST00000414099.2_Missense_Mutation_p.P52L|SCN5A_ENST00000451551.2_Missense_Mutation_p.P52L|SCN5A_ENST00000443581.1_Missense_Mutation_p.P52L|SCN5A_ENST00000423572.2_Missense_Mutation_p.P52L|SCN5A_ENST00000455624.2_Missense_Mutation_p.P52L|SCN5A_ENST00000450102.2_Missense_Mutation_p.P52L NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 52 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CTGGGGCCGGGGAGCCTCCTC 0.657000 5 20 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79366681 79366681 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:79366681C>T ENST00000264895.6 + 42 6111 c.5671C>T c.(5671-5673)Cgt>Tgt p.R1891C FRAS1_ENST00000325942.6_Missense_Mutation_p.R1891C NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1890 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGCAGGTGATCGTTTTGGCCC 0.393000 13 38 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57071176 57071176 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:57071176C>T ENST00000436936.1 + 15 3006 c.2781C>T c.(2779-2781)acC>acT p.T927T NLRC5_ENST00000539144.1_Silent_p.T927T|NLRC5_ENST00000308149.7_Silent_p.T927T|NLRC5_ENST00000262510.6_Silent_p.T927T Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 927 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CGTGCTGGACCCTGGCAGAGC 0.627000 14 51 0 0 1 0 0 IL37 27178 broad.mit.edu 37 2 113675236 113675236 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:113675236C>T ENST00000263326.3 + 4 332 c.290C>T c.(289-291)tCc>tTc p.S97F IL37_ENST00000352179.3_Missense_Mutation_p.S76F|IL37_ENST00000311328.2_Missense_Mutation_p.S71F|IL37_ENST00000353225.3_Missense_Mutation_p.S57F|IL37_ENST00000349806.3_Missense_Mutation_p.S36F NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 97 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 TTAGCCTCATCCTTGAGCTCA 0.493000 58 237 0 0 1 0 0 FAM198B 51313 broad.mit.edu 37 4 159076804 159076804 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:159076804G>A ENST00000296530.8 - 3 1705 c.1084C>T c.(1084-1086)Cat>Tat p.H362Y FAM198B_ENST00000585682.1_Missense_Mutation_p.H362Y|FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000393807.5_Missense_Mutation_p.H370Y NM_016613.6 NP_057697.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 362 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 GACCACTCATGATGATGTATT 0.418000 9 33 0 0 1 0 0 MEGF11 84465 broad.mit.edu 37 15 66250032 66250032 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:66250032G>A ENST00000409699.2 - 10 1312 c.1140C>T c.(1138-1140)acC>acT p.T380T MEGF11_ENST00000360698.4_Silent_p.T380T|MEGF11_ENST00000422354.1_Silent_p.T380T|MEGF11_ENST00000395625.2_Silent_p.T305T|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000288745.3_Silent_p.T305T A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 380 basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 CTGGCTGGCAGGTACAAGCTC 0.592000 9 36 0 0 1 0 0 ZNF30 90075 broad.mit.edu 37 19 35434798 35434798 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:35434798C>T ENST00000439785.1 + 5 1375 c.931C>T c.(931-933)Cat>Tat p.H311Y ZNF30_ENST00000426813.2_Missense_Mutation_p.H229Y|ZNF30_ENST00000601142.1_Missense_Mutation_p.H310Y|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.H311Y NM_001099438.1 NP_001092908.1 P17039 ZNF30_HUMAN zinc finger protein 30 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) TCAGAGAATTCATACTGGCGA 0.443000 20 54 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28796068 28796068 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:28796068C>T ENST00000422425.2 + 21 1406 c.1362C>T c.(1360-1362)atC>atT p.I454I PLB1_ENST00000327757.5_Silent_p.I443I|PLB1_ENST00000329020.6_Silent_p.I131I NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 443 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TTGCAGACATCCTCCGGGAAT 0.493000 4 19 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93636963 93636963 + Missense_Mutation SNP G G A rs56071116 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:93636963G>A ENST00000375754.4 + 9 1161 c.1013G>A c.(1012-1014)aGa>aAa p.R338K SYK_ENST00000375747.1_Missense_Mutation_p.R315K|SYK_ENST00000375746.1_Missense_Mutation_p.R338K|SYK_ENST00000375751.4_Missense_Mutation_p.R315K NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 338 Linker. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 GGCCCCCAGAGAGAAGCCCTA 0.562000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 98 144 0 0 1 0 0 PLCH2 9651 broad.mit.edu 37 1 2418402 2418402 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:2418402C>T ENST00000449969.1 + 6 953 c.792C>T c.(790-792)tgC>tgT p.C264C PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000419816.2_Silent_p.C291C|PLCH2_ENST00000378488.3_Silent_p.C291C|PLCH2_ENST00000378486.3_Silent_p.C291C|PLCH2_ENST00000288766.5_Intron O75038 PLCH2_HUMAN phospholipase C, eta 2 291 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) TTGAGCCATGCCCAGAAAACA 0.632000 5 16 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77354858 77354858 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:77354858G>A ENST00000451710.3 - 33 5517 c.5280C>T c.(5278-5280)tcC>tcT p.S1760S TRPM6_ENST00000449912.2_Silent_p.S1751S|TRPM6_ENST00000376872.3_Silent_p.S711S|TRPM6_ENST00000361255.3_Silent_p.S1751S|TRPM6_ENST00000360774.1_Silent_p.S1756S|TRPM6_ENST00000376871.3_Silent_p.S593S|TRPM6_ENST00000376864.4_Silent_p.S1760S Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1756 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GAGACCAAGAGGACATGCTTT 0.488000 21 34 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32077661 32077661 + Missense_Mutation SNP A A C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:32077661A>C ENST00000438447.1 + 19 4019 c.3631A>C c.(3631-3633)Aca>Cca p.T1211P PDZD2_ENST00000282493.3_Missense_Mutation_p.T1211P O15018 PDZD2_HUMAN PDZ domain containing 2 1211 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CAGCCACCTCACAGAGAACCT 0.507000 8 69 0 0 1 0 0 RELB 5971 broad.mit.edu 37 19 45537541 45537541 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:45537541C>T ENST00000221452.8 + 10 1397 c.1247C>T c.(1246-1248)cCc>cTc p.P416L RELB_ENST00000540120.1_Missense_Mutation_p.P416L|RELB_ENST00000505236.1_Missense_Mutation_p.P413L NM_006509.3 NP_006500.2 Q01201 RELB_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog B 416 RHD. nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1) 12 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) CGGGGGATGCCCGACGTCCTT 0.547000 22 46 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112614442 112614442 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:112614442C>T ENST00000550722.1 - 65 11385 c.10990G>A c.(10990-10992)Gat>Aat p.D3664N HECTD4_ENST00000430131.2_Missense_Mutation_p.D3388N|HECTD4_ENST00000377560.5_Missense_Mutation_p.D3638N NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TCCTTTTCATCTGGTTTGCTC 0.483000 4 57 0 0 1 0 0 CPZ 8532 broad.mit.edu 37 4 8608532 8608532 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:8608532C>T ENST00000382480.2 + 6 1364 c.564C>T c.(562-564)ttC>ttT p.F188F CPZ_ENST00000315782.6_Silent_p.F314F|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000360986.4_Silent_p.F325F NM_001014448.2 NP_001014448.1 Q66K79 CBPZ_HUMAN carboxypeptidase Z 325 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 ACCGAAATTTCCCGGACCTGA 0.647000 20 67 0 0 1 0 0 PTGFR 5737 broad.mit.edu 37 1 78958543 78958543 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:78958543G>A ENST00000370756.3 + 2 352 c.115G>A c.(115-117)Gtg>Atg p.V39M PTGFR_ENST00000370757.3_Missense_Mutation_p.V39M|PTGFR_ENST00000370758.1_Missense_Mutation_p.V39M NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 39 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) CTTCATGACAGTGGGAATCTT 0.463000 21 73 0 0 1 0 0 MMACHC 25974 broad.mit.edu 37 1 45973169 45973169 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:45973169C>T ENST00000401061.4 + 2 503 c.223C>T c.(223-225)Ctg>Ttg p.L75L NM_015506.2 NP_056321.2 Q9Y4U1 MMAC_HUMAN methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 75 cobalamin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(166;0.155) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCTCCGAATGCTGACTGACCC 0.607000 3 35 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189012767 189012767 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:189012767C>T ENST00000512729.1 - 7 1298 c.924G>A c.(922-924)ctG>ctA p.L308L TRIML2_ENST00000326754.3_Silent_p.L333L NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 308 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) AGAGCCTTTTCAGAGGGGGGA 0.557000 45 189 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205899030 205899030 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:205899030G>A ENST00000367135.3 - 6 820 c.707C>T c.(706-708)tCc>tTc p.S236F SLC26A9_ENST00000340781.4_Missense_Mutation_p.S236F|SLC26A9_ENST00000367134.2_Missense_Mutation_p.S236F NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 236 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) AAAGACGATGGACCCTGGGCC 0.567000 8 67 0 0 1 0 0 BTN3A1 11119 broad.mit.edu 37 6 26409900 26409900 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:26409900G>A ENST00000289361.6 + 5 1223 c.855G>A c.(853-855)aaG>aaA p.K285K BTN3A1_ENST00000414912.2_Silent_p.K233K|BTN3A1_ENST00000476549.2_Silent_p.K285K|BTN3A1_ENST00000425234.2_Silent_p.K285K NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 285 lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 GAAAGAAAAAGAGAGAGCAAG 0.502000 24 134 0 0 1 0 0 CDKL2 8999 broad.mit.edu 37 4 76551162 76551162 + Missense_Mutation SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:76551162T>C ENST00000429927.2 - 2 714 c.11A>G c.(10-12)tAt>tGt p.Y4C CDKL2_ENST00000307465.4_Missense_Mutation_p.Y4C NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 4 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) CAGGTTTTCATATTTTTCCAT 0.353000 17 77 0 0 1 0 0 WDR18 57418 broad.mit.edu 37 19 990989 990989 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:990989C>T ENST00000251289.5 + 5 758 c.735C>T c.(733-735)ttC>ttT p.F245F WDR18_ENST00000587001.2_Silent_p.F245F NM_024100.3 NP_077005.2 Q9BV38 WDR18_HUMAN WD repeat domain 18 245 endometrium(1)|kidney(2)|lung(2)|skin(2) 7 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) TCGACCTCTTCACCTGGGTGA 0.652000 10 49 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154321393 154321393 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:154321393C>T ENST00000368489.3 + 28 3471 c.3471C>T c.(3469-3471)tcC>tcT p.S1157S NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 1143 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GCACTGGCTCCCGGCGCTCCG 0.642000 6 50 0 0 1 0 0 TMEM176A 55365 broad.mit.edu 37 7 150501930 150501930 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:150501930G>A ENST00000484928.1 + 7 1263 c.682G>A c.(682-684)Gaa>Aaa p.E228K TMEM176A_ENST00000461345.1_Missense_Mutation_p.E169K|TMEM176A_ENST00000004103.3_Missense_Mutation_p.E228K Q96HP8 T176A_HUMAN transmembrane protein 176A 228 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGACCAGAAGGAAATGTTGGA 0.522000 52 89 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81528669 81528669 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:81528669G>A ENST00000548058.1 + 3 1441 c.531G>A c.(529-531)atG>atA p.M177I ACSS3_ENST00000261206.3_Missense_Mutation_p.M176I Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 177 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 ACATGCCTATGATCCCACAGG 0.458000 12 29 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120998772 120998772 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:120998772G>A ENST00000273666.6 + 19 2350 c.2079G>A c.(2077-2079)cgG>cgA p.R693R STXBP5L_ENST00000492541.1_Silent_p.R693R|STXBP5L_ENST00000472879.1_Silent_p.R693R|STXBP5L_ENST00000471454.1_Silent_p.R693R|STXBP5L_ENST00000497029.1_Silent_p.R693R NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 693 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GACAACCACGGTCTCCTCGAA 0.388000 8 50 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20623061 20623061 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:20623061G>A ENST00000525748.1 + 2 663 c.390G>A c.(388-390)ggG>ggA p.G130G NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 130 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) GCCCGGAGGGGGATGCGAACG 0.677000 5 37 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34285417 34285417 + Silent SNP G G A rs146766790 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:34285417G>A ENST00000373381.4 - 9 1397 c.1221C>T c.(1219-1221)ttC>ttT p.F407F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 367 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) CGTTGCAGGTGAACTGGACGC 0.592000 8 47 0 0 1 0 0 MGLL 11343 broad.mit.edu 37 3 127454583 127454583 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:127454583C>T ENST00000398101.3 - 1 617 c.119G>A c.(118-120)gGg>gAg p.G40E MGLL_ENST00000265052.5_Intron|MGLL_ENST00000453507.2_Intron|MGLL_ENST00000398104.1_Intron|MGLL_ENST00000434178.2_Intron Q99685 MGLL_HUMAN monoglyceride lipase 0 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 GTGCTCGCTCCCCGCCTTCTC 0.493000 27 124 0 0 1 0 0 NOP58 51602 broad.mit.edu 37 2 203149128 203149128 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:203149128C>T ENST00000264279.5 + 5 584 c.358C>T c.(358-360)Cgt>Tgt p.R120C NOP58_ENST00000467734.1_3'UTR NM_015934.3 NP_057018.1 Q9Y2X3 NOP58_HUMAN NOP58 ribonucleoprotein 120 cell growth|rRNA processing|snRNP protein import into nucleus box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex protein binding|snoRNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2) 16 GAGAGGAATTCGTTCACAAAT 0.358000 12 44 0 0 1 0 0 TREH 11181 broad.mit.edu 37 11 118532174 118532174 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:118532174C>T ENST00000529101.1 - 7 707 c.662G>A c.(661-663)cGg>cAg p.R221Q TREH_ENST00000397925.1_Missense_Mutation_p.R190Q|TREH_ENST00000264029.4_Missense_Mutation_p.R221Q|TREH_ENST00000525958.1_Missense_Mutation_p.R190Q|TREH_ENST00000530256.1_Missense_Mutation_p.R98Q O43280 TREA_HUMAN trehalase (brush-border membrane glycoprotein) 221 polysaccharide digestion|trehalose catabolic process anchored to plasma membrane alpha,alpha-trehalase activity NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.16e-05) GGGCTGGCTCCGCTGCAGGTA 0.597000 8 22 0 0 1 0 0 NPY4R 5540 broad.mit.edu 37 10 47087479 47087479 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:47087479C>T ENST00000374312.1 + 3 1115 c.696C>T c.(694-696)gtC>gtT p.V232V NPY4R_ENST00000395716.1_Silent_p.V232V NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 TCATCCTGGTCTGTTATGCAC 0.602000 15 99 0 0 1 0 0 RNF152 220441 broad.mit.edu 37 18 59483667 59483667 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr18:59483667C>T ENST00000312828.3 - 2 1129 c.30G>A c.(28-30)ctG>ctA p.L10L NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 10 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) TCTGACATTCCAGCAGAGAGT 0.592000 32 114 0 0 1 0 0 KIF9 64147 broad.mit.edu 37 3 47289520 47289520 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:47289520G>A ENST00000335044.2 - 11 1473 c.1116C>T c.(1114-1116)atC>atT p.I372I KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Silent_p.I372I|KIF9_ENST00000444589.2_Silent_p.I372I|KIF9_ENST00000352910.4_Silent_p.I279I|KIF9_ENST00000452770.2_Silent_p.I372I NM_001134878.1|NM_182902.3 NP_001128350.1|NP_878905.2 Q9HAQ2 KIF9_HUMAN kinesin family member 9 372 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GGCTGTCATGGATAGCCAGCT 0.572000 33 193 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502505 140502505 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140502505G>A ENST00000194152.1 + 1 925 c.925G>A c.(925-927)Gaa>Aaa p.E309K NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 309 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATTGGATTTCGAAAAAATTAA 0.358000 40 162 0 0 1 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75558041 75558041 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:75558041G>A ENST00000604729.1 + 20 4303 c.4006G>A c.(4006-4008)Gat>Aat p.D1336N ZSWIM8_ENST00000605216.1_Missense_Mutation_p.D1331N|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.D1336N|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.D1331N|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.D1298N zinc finger, SWIM-type containing 8 AGAATGCTGGGATGGGCACCT 0.602000 8 37 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238285621 238285621 + Missense_Mutation SNP C C T rs112172548 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:238285621C>T ENST00000295550.4 - 7 3316 c.2864G>A c.(2863-2865)cGt>cAt p.R955H COL6A3_ENST00000409809.1_Missense_Mutation_p.R749H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R749H|COL6A3_ENST00000392003.2_Missense_Mutation_p.R548H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R755H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R754H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R348H|COL6A3_ENST00000392004.3_Missense_Mutation_p.R749H NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 955 Nonhelical region.|VWFA 5. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCCATCCACACGGTCAGATGA 0.542000 31 103 0 0 1 0 0 RSBN1 54665 broad.mit.edu 37 1 114308958 114308958 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:114308958G>A ENST00000261441.5 - 7 2116 c.2053C>T c.(2053-2055)Cag>Tag p.Q685* RSBN1_ENST00000369581.2_5'UTR NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 685 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) GTTTTGAACTGATGAATGACA 0.428000 28 91 0 0 1 0 0 OR2F2 135948 broad.mit.edu 37 7 143632472 143632472 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:143632472C>T ENST00000408955.2 + 1 214 c.147C>T c.(145-147)atC>atT p.I49I NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) TCCTTCTGATCAGACTGGACA 0.517000 58 361 0 0 1 0 0 WBP2 23558 broad.mit.edu 37 17 73843582 73843582 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:73843582G>A ENST00000591399.1 - 7 1065 c.641C>T c.(640-642)cCc>cTc p.P214L WBP2_ENST00000590221.1_Missense_Mutation_p.P210L|WBP2_ENST00000344296.4_Missense_Mutation_p.P192L|WBP2_ENST00000433525.2_Missense_Mutation_p.P169L|WBP2_ENST00000585462.1_Missense_Mutation_p.P192L|WBP2_ENST00000254806.3_Missense_Mutation_p.P214L Q969T9 WBP2_HUMAN WW domain binding protein 2 214 Pro-rich. protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) AGGAGTGGAGGGGACATCGGG 0.687000 6 20 0 0 1 0 0 ITIH4 3700 broad.mit.edu 37 3 52848312 52848312 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:52848312G>A ENST00000266041.4 - 22 2635 c.2539C>T c.(2539-2541)Ctg>Ttg p.L847L ITIH4_ENST00000406595.1_Silent_p.L817L|ITIH4_ENST00000485816.1_Silent_p.L852L|ITIH4_ENST00000346281.5_Silent_p.L831L NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 847 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CAGAACAACAGGCCGATGGTC 0.597000 13 62 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108129775 108129775 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:108129775C>T ENST00000273353.3 - 32 4266 c.4210G>A c.(4210-4212)Gaa>Aaa p.E1404K NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1404 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 ATTGCCAGTTCCTTCCTGAGA 0.537000 7 16 0 0 1 0 0 SCARB1 949 broad.mit.edu 37 12 125292381 125292381 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:125292381G>A ENST00000339570.5 - 7 1131 c.935C>T c.(934-936)tCc>tTc p.S312F SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000261693.6_Missense_Mutation_p.S312F|SCARB1_ENST00000415380.2_Missense_Mutation_p.S312F|SCARB1_ENST00000541205.1_Missense_Mutation_p.S271F|SCARB1_ENST00000546215.1_Missense_Mutation_p.S312F|SCARB1_ENST00000544327.1_Missense_Mutation_p.S258F|SCARB1_ENST00000376788.1_Missense_Mutation_p.S212F|SCARB1_ENST00000540495.1_Missense_Mutation_p.S275F NM_001082959.1 NP_001076428.1 Q8WTV0 SCRB1_HUMAN scavenger receptor class B, member 1 312 adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) TGGGTAGATGGACCCGTTGGC 0.567000 18 66 0 0 1 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88248168 88248168 + Missense_Mutation SNP A A G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:88248168A>G ENST00000357081.3 - 14 1568 c.1424T>C c.(1423-1425)gTt>gCt p.V475A AGTPBP1_ENST00000376083.3_Missense_Mutation_p.V435A|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.V487A|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.V313A|AGTPBP1_ENST00000337006.4_3'UTR Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 475 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 CTTCATTACAACTTTTCTTAA 0.368000 22 35 0 0 1 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147284 26147284 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:26147284G>A ENST00000331351.5 + 2 1478 c.1086G>A c.(1084-1086)gtG>gtA p.V362V HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 362 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) GACTCATTGTGGACCCCGCCG 0.498000 17 104 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62202043 62202043 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:62202043G>A ENST00000467148.1 - 2 526 c.457C>T c.(457-459)Ctt>Ttt p.L153F HELZ2_ENST00000479540.1_5'UTR NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CTTACCACAAGGACCTCACTG 0.682000 7 21 0 0 1 0 0 RCC1 1104 broad.mit.edu 37 1 28858691 28858691 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:28858691C>T ENST00000373833.6 + 7 555 c.270C>T c.(268-270)tcC>tcT p.S90S RCC1_ENST00000398958.2_Silent_p.S90S|RCC1_ENST00000373832.1_Silent_p.S90S|RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000373831.3_Silent_p.S121S P18754 RCC1_HUMAN regulator of chromosome condensation 1 90 cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) AGGTCTATTCCTTCGGCTGCA 0.567000 5 17 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165956887 165956887 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:165956887G>A ENST00000360093.3 - 22 4382 c.3891C>T c.(3889-3891)ctC>ctT p.L1297L SCN3A_ENST00000409101.3_Silent_p.L1248L|SCN3A_ENST00000283254.7_Silent_p.L1297L NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1297 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) TGATGGCACCGAGTTCTGAGT 0.388000 9 26 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179481277 179481277 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:179481277C>T ENST00000589042.1 - 257 48465 c.48241G>A c.(48241-48243)Gat>Aat p.D16081N TTN_ENST00000342175.6_Missense_Mutation_p.D7208N|TTN_ENST00000342992.6_Missense_Mutation_p.D13513N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D7141N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D14440N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7016N|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14440 Ig-like 99. 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) CCTCCATCATCATCAGGTGGT 0.433000 19 79 0 0 1 0 0 C14orf177 283598 broad.mit.edu 37 14 99183532 99183532 + Missense_Mutation SNP C C T rs143969442 byFrequency TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:99183532C>T ENST00000325812.2 + 4 718 c.299C>T c.(298-300)tCg>tTg p.S100L NM_182560.2 NP_872366.2 Q52M58 CN177_HUMAN chromosome 14 open reading frame 177 100 endometrium(1)|kidney(1)|large_intestine(1)|lung(10) 13 Melanoma(154;0.128) ATGTCTGCTTCGACCATCTCT 0.413000 11 58 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2705076 2705076 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:2705076G>A ENST00000399655.1 + 20 2965 c.2700G>A c.(2698-2700)acG>acA p.T900T CACNA1C_ENST00000399597.1_Silent_p.T900T|CACNA1C_ENST00000399629.1_Silent_p.T900T|CACNA1C_ENST00000399603.1_Silent_p.T900T|CACNA1C_ENST00000347598.4_Silent_p.T900T|CACNA1C_ENST00000399634.1_Silent_p.T900T|CACNA1C_ENST00000399637.1_Silent_p.T900T|CACNA1C_ENST00000399591.1_Silent_p.T900T|CACNA1C_ENST00000399617.1_Silent_p.T900T|CACNA1C_ENST00000399621.1_Silent_p.T900T|CACNA1C_ENST00000402845.3_Silent_p.T900T|CACNA1C_ENST00000327702.7_Silent_p.T900T|CACNA1C_ENST00000399641.1_Silent_p.T900T|CACNA1C_ENST00000399595.1_Silent_p.T900T|CACNA1C_ENST00000399638.1_Silent_p.T900T|CACNA1C_ENST00000335762.5_Silent_p.T925T|CACNA1C_ENST00000344100.3_Silent_p.T900T|CACNA1C_ENST00000480911.1_Silent_p.T900T|CACNA1C_ENST00000399644.1_Silent_p.T900T|CACNA1C_ENST00000399601.1_Silent_p.T900T|CACNA1C_ENST00000399606.1_Silent_p.T900T|CACNA1C_ENST00000399649.1_Silent_p.T900T|CACNA1C_ENST00000406454.3_Silent_p.T900T NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 900 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TCAATGACACGATCTTCACCA 0.562000 18 59 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973462 29973462 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:29973462G>A ENST00000378993.1 + 11 2289 c.1616G>A c.(1615-1617)tGg>tAg p.W539* IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.W539* NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 539 TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 GTCATTAAATGGCATGGACCA 0.428000 6 13 0 0 1 0 0 MYL12A 10627 broad.mit.edu 37 18 3253895 3253895 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr18:3253895C>T ENST00000217652.3 + 3 585 c.190C>T c.(190-192)Cca>Tca p.P64S MYL12A_ENST00000579226.1_Missense_Mutation_p.P64S|MYL12A_ENST00000580887.1_Missense_Mutation_p.P70S|MYL12A_ENST00000578611.1_Missense_Mutation_p.P64S|MYL12A_ENST00000536605.1_Missense_Mutation_p.P64S NM_006471.2 NP_006462.1 P19105 ML12A_HUMAN myosin, light chain 12A, regulatory, non-sarcomeric 64 myosin complex calcium ion binding|protein binding NS(1)|kidney(2)|large_intestine(2) 5 AGGGAAGAATCCAACTGATGA 0.343000 6 37 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70070710 70070710 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:70070710C>T ENST00000330891.5 - 7 1079 c.853G>A c.(853-855)Gca>Aca p.A285T BEST3_ENST00000488961.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.A285T|BEST3_ENST00000553096.1_Missense_Mutation_p.A179T NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 285 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) AGCCATCCTGCATAGAAGAAG 0.468000 26 115 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10940873 10940873 + Missense_Mutation SNP A A T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:10940873A>T ENST00000314646.5 + 20 2526 c.2362A>T c.(2362-2364)Act>Tct p.T788S DNM2_ENST00000585892.1_Missense_Mutation_p.T788S|DNM2_ENST00000408974.4_Missense_Mutation_p.T784S|DNM2_ENST00000389253.4_Missense_Mutation_p.T788S|DNM2_ENST00000355667.6_Missense_Mutation_p.T788S|DNM2_ENST00000359692.6_Missense_Mutation_p.T784S P50570 DYN2_HUMAN dynamin 2 788 Pro-rich. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) GAGGGGCCCCACTCCAGGGCC 0.692000 """F, N, Splice, Mis, O""" ETP ALL 34 89 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238053213 238053213 + Silent SNP C C T rs138002250 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:238053213C>T ENST00000366570.4 - 3 512 c.354G>A c.(352-354)aaG>aaA p.K118K RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 118 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CTGTAACCACCTTGTGTTCAG 0.567000 175 333 0 0 1 0 0 TNFSF13B 10673 broad.mit.edu 37 13 108922376 108922376 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr13:108922376G>A ENST00000375887.4 + 1 311 c.133G>A c.(133-135)Gga>Aga p.G45R TNFSF13B_ENST00000430559.1_Missense_Mutation_p.G45R|TNFSF13B_ENST00000542136.1_Missense_Mutation_p.G45R NM_006573.4 NP_006564.1 Q9Y275 TN13B_HUMAN tumor necrosis factor (ligand) superfamily, member 13b 45 cell proliferation|immune response|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity|tumor necrosis factor receptor binding large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104) all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19) CTCCAAAGACGGAAAGCTGCT 0.552000 56 178 0 0 1 0 0 INHBC 3626 broad.mit.edu 37 12 57828946 57828946 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:57828946G>A ENST00000309668.2 + 1 404 c.277G>A c.(277-279)Gaa>Aaa p.E93K INHBC_ENST00000550133.1_Missense_Mutation_p.E93K NM_005538.2 NP_005529.1 P55103 INHBC_HUMAN inhibin, beta C 93 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1) 16 GGACAACAGGGAACAGGAATG 0.552000 11 24 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113169320 113169320 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:113169320C>T ENST00000401783.2 - 38 8896 c.8560G>A c.(8560-8562)Gag>Aag p.E2854K SVEP1_ENST00000297826.5_Missense_Mutation_p.E780K|SVEP1_ENST00000374469.1_Missense_Mutation_p.E2831K NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2854 Sushi 24. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TATTCAATCTCTTTTTGGAAT 0.522000 30 47 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36778804 36778804 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:36778804G>A ENST00000416516.2 - 2 1837 c.1347C>T c.(1345-1347)ttC>ttT p.F449F NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 449 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 CGGGCTCCGGGAACTTCACAC 0.512000 15 46 0 0 1 0 0 VSIG2 23584 broad.mit.edu 37 11 124620744 124620744 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:124620744G>A ENST00000403470.1 - 3 348 c.293C>T c.(292-294)cCc>cTc p.P98L VSIG2_ENST00000326621.5_Missense_Mutation_p.P98L Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 98 Ig-like V-type. integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|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;0.0215) CACTGTGGGGGGGTTCTGAAG 0.532000 12 33 0 0 1 0 0 HTN1 3346 broad.mit.edu 37 4 70921242 70921242 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:70921242C>T ENST00000511674.1 + 5 201 c.130C>T c.(130-132)Cca>Tca p.P44S HTN1_ENST00000246896.3_Missense_Mutation_p.P44S P15515 HIS1_HUMAN histatin 1 44 biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region protein binding endometrium(1)|large_intestine(1)|lung(2)|skin(2) 6 TCGAGAATTTCCATTTTATGG 0.358000 10 30 0 0 1 0 0 WNT16 51384 broad.mit.edu 37 7 120979028 120979028 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:120979028G>A ENST00000222462.2 + 4 1017 c.727G>A c.(727-729)Gaa>Aaa p.E243K WNT16_ENST00000361301.2_Missense_Mutation_p.E233K NM_057168.1 NP_476509.1 Q9UBV4 WNT16_HUMAN wingless-type MMTV integration site family, member 16 243 anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1) 18 all_neural(327;0.117) GTCTTCTTTTGAAAAGATTGG 0.433000 13 78 0 0 1 0 0 NUF2 83540 broad.mit.edu 37 1 163295964 163295964 + Splice_Site SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:163295964G>A ENST00000271452.3 + 2 402 c.123_splice c.e2+1 p.K41_splice NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000367900.3_Splice_Site_p.K41_splice|NUF2_ENST00000524800.1_Splice_Site_p.K41_splice NM_145697.2 NP_663735.2 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 41 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) CAAATCCAAAGGTAAAAGGTG 0.373000 54 67 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100086436 100086436 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:100086436G>A ENST00000423930.1 + 4 1251 c.1092G>A c.(1090-1092)aaG>aaA p.K364K NYAP1_ENST00000454988.1_Silent_p.K307K|NYAP1_ENST00000300179.2_Silent_p.K364K Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 364 Pro-rich. GCCACTCCAAGGAGCCAGCCG 0.682000 26 63 0 0 1 0 0 NR1I2 8856 broad.mit.edu 37 3 119526124 119526124 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:119526124G>A ENST00000393716.2 + 2 1866 c.27G>A c.(25-27)tgG>tgA p.W9* NR1I2_ENST00000337940.4_Nonsense_Mutation_p.W48*|NR1I2_ENST00000466380.1_Nonsense_Mutation_p.W9* NM_003889.3 NP_003880.3 O75469 NR1I2_HUMAN nuclear receptor subfamily 1, group I, member 2 9 drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport nucleoplasm drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding p.W48C(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.175) Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163) AAGAAAGCTGGAACCATGCTG 0.502000 13 67 0 0 1 0 0 GRIA3 2892 broad.mit.edu 37 X 122387351 122387351 + Missense_Mutation SNP T T A rs144902457 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:122387351T>A ENST00000264357.5 + 3 758 c.466T>A c.(466-468)Tac>Aac p.Y156N GRIA3_ENST00000541091.1_Missense_Mutation_p.Y140N|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y156N|GRIA3_ENST00000542149.1_Missense_Mutation_p.Y156N|GRIA3_ENST00000371251.1_Missense_Mutation_p.Y156N|GRIA3_ENST00000479118.1_3'UTR NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 156 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) TCTGGGTCATTACAAGTGGGA 0.473000 24 25 0 0 1 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52003217 52003217 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:52003217C>T ENST00000291707.3 - 2 820 c.765G>A c.(763-765)agG>agA p.R255R SIGLEC12_ENST00000598614.1_Silent_p.R137R NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 255 Ig-like V-type 2. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) AGTTCCATTTCCTGCTTCCTC 0.552000 15 51 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178769886 178769886 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:178769886C>T ENST00000286063.5 - 3 1417 c.1100G>A c.(1099-1101)gGa>gAa p.G367E PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.G9E|PDE11A_ENST00000358450.4_Missense_Mutation_p.G117E|PDE11A_ENST00000449286.2_Missense_Mutation_p.G9E NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 367 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TATGGCGATTCCACAAAATGG 0.373000 Primary Pigmented Nodular Adrenocortical Disease, Familial 11 37 0 0 1 0 0 DDB1 1642 broad.mit.edu 37 11 61094299 61094299 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:61094299G>A ENST00000301764.7 - 5 1013 c.616C>T c.(616-618)Cct>Tct p.P206S DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 206 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 TGTTTCCAAGGGCCCTTATTG 0.522000 Nucleotide excision repair (NER) 37 183 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31602309 31602309 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:31602309C>T ENST00000376033.2 + 20 5144 c.4910C>T c.(4909-4911)cCt>cTt p.P1637L PRRC2A_ENST00000376007.4_Missense_Mutation_p.P1637L NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1637 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CCCCTGAGTCCTTTTGAGGAT 0.572000 7 19 0 0 1 0 0 SFXN4 119559 broad.mit.edu 37 10 120914604 120914604 + Silent SNP G G A rs148648922 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:120914604G>A ENST00000355697.2 - 11 721 c.702C>T c.(700-702)gtC>gtT p.V234V SFXN4_ENST00000330036.6_Silent_p.V225V|SFXN4_ENST00000461438.1_5'UTR NM_213649.1 NP_998814.1 Q6P4A7 SFXN4_HUMAN sideroflexin 4 234 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 11 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0261) AATGACCCAGGACATTGCCTT 0.463000 19 63 0 0 1 0 0 SH2D5 400745 broad.mit.edu 37 1 21048380 21048380 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:21048380C>T ENST00000375031.1 - 9 1549 c.925G>A c.(925-927)Gag>Aag p.E309K SH2D5_ENST00000444387.2_Missense_Mutation_p.E393K|SH2D5_ENST00000460804.1_5'UTR NM_001103160.1 NP_001096630.1 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 309 lung(4)|prostate(1)|upper_aerodigestive_tract(1) 6 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCCTGCTCCTCGTAGGTGGGG 0.672000 14 19 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54313910 54313910 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:54313910C>T ENST00000324134.6 - 3 1171 c.1003G>A c.(1003-1005)Gag>Aag p.E335K NLRP12_ENST00000535162.1_Missense_Mutation_p.E335K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E335K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E335K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E335K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E335K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E335K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E335K NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 335 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AAAGATAGCTCAGGGAGCAGC 0.582000 13 95 0 0 1 0 0 HID1 283987 broad.mit.edu 37 17 72947714 72947714 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:72947714G>A ENST00000425042.2 - 19 2395 c.2318C>T c.(2317-2319)cCt>cTt p.P773L NM_030630.2 NP_085133.1 HID1 domain containing GTACCAGACAGGGGGGTCCAC 0.617000 3 11 0 0 1 0 0 KDM1B 221656 broad.mit.edu 37 6 18208424 18208424 + Missense_Mutation SNP A A G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:18208424A>G ENST00000388870.2 + 17 2097 c.1856A>G c.(1855-1857)tAt>tGt p.Y619C KDM1B_ENST00000297792.5_Missense_Mutation_p.Y386C|KDM1B_ENST00000397244.1_Missense_Mutation_p.Y387C|KDM1B_ENST00000546309.2_Intron Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B 618 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 GGCACAGGGTATTCTGCACAA 0.453000 16 82 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58240625 58240625 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr13:58240625C>T ENST00000377918.3 + 2 2615 c.2589C>T c.(2587-2589)ccC>ccT p.P863P NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 863 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCGCAGAGCCCAATTACATGG 0.413000 10 37 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4920518 4920518 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:4920518C>T ENST00000433855.1 + 1 2177 c.1311C>T c.(1309-1311)atC>atT p.I437I KCNA6_ENST00000280684.3_Silent_p.I437I NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 437 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 GGGGAAAGATCGTGGGCTCGC 0.592000 HNSCC(72;0.22) 18 69 0 0 1 0 0 SV2B 9899 broad.mit.edu 37 15 91795187 91795187 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:91795187G>A ENST00000394232.1 + 3 1060 c.590G>A c.(589-591)gGa>gAa p.G197E SV2B_ENST00000330276.4_Missense_Mutation_p.G197E|SV2B_ENST00000545111.2_Missense_Mutation_p.G46E NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 197 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TTCGTGCAGGGATATGGAGCC 0.577000 23 68 0 0 1 0 0 PCYT1B 9468 broad.mit.edu 37 X 24665156 24665156 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:24665156G>A ENST00000379144.2 - 1 197 c.67C>T c.(67-69)Ccc>Tcc p.P23S PCYT1B_ENST00000379145.1_Intron|PCYT1B_ENST00000356768.4_Missense_Mutation_p.P23S NM_004845.4 NP_004836.2 Q9Y5K3 PCY1B_HUMAN phosphate cytidylyltransferase 1, choline, beta 23 endoplasmic reticulum choline-phosphate cytidylyltransferase activity breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 17 Choline(DB00122) GTTTCTGAGGGAGGCTCATTG 0.483000 26 26 0 0 1 0 0 KIAA0408 9729 broad.mit.edu 37 6 127767577 127767577 + Silent SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:127767577T>C ENST00000483725.3 - 5 2223 c.1887A>G c.(1885-1887)ggA>ggG p.G629G SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 629 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TCGGATCTATTCCTTGCTTCA 0.398000 46 125 0 0 1 0 0 PCED1B 91523 broad.mit.edu 37 12 47628926 47628926 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:47628926G>A ENST00000546455.1 + 4 811 c.80G>A c.(79-81)aGg>aAg p.R27K PCED1B_ENST00000432328.1_Missense_Mutation_p.R27K PC-esterase domain containing 1B TCTGTGCATAGGGCAGTATAC 0.592000 14 38 0 0 1 0 0 FAM83D 81610 broad.mit.edu 37 20 37580886 37580886 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:37580886C>T ENST00000217429.4 + 4 1612 c.1571C>T c.(1570-1572)cCc>cTc p.P524L NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 494 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) ACTGGTTCTCCCGCTTCCATC 0.512000 11 50 0 0 1 0 0 ZFX 7543 broad.mit.edu 37 X 24229438 24229438 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:24229438C>T ENST00000379177.1 + 11 2790 c.2363C>T c.(2362-2364)cCt>cTt p.P788L ZFX_ENST00000338565.3_Missense_Mutation_p.P738L|ZFX_ENST00000304543.5_Missense_Mutation_p.P788L|ZFX_ENST00000379188.3_Missense_Mutation_p.P788L|ZFX_ENST00000539115.1_Missense_Mutation_p.P559L|ZFX_ENST00000540034.1_Missense_Mutation_p.P827L NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 788 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 TTCCGAAGACCTTCAGAAAAG 0.448000 30 30 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100170967 100170967 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:100170967G>A ENST00000317233.4 - 23 3600 c.3365C>T c.(3364-3366)cCc>cTc p.P1122L AFF3_ENST00000409236.1_Missense_Mutation_p.P1122L|AFF3_ENST00000356421.2_Missense_Mutation_p.P1147L|AFF3_ENST00000409579.1_Missense_Mutation_p.P1147L NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 1122 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 AGAGGGGTTGGGAGACATGGG 0.667000 9 24 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119466224 119466224 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:119466224G>A ENST00000369429.3 - 5 705 c.696C>T c.(694-696)atC>atT p.I232I TBX15_ENST00000207157.3_Silent_p.I126I Q96SF7 TBX15_HUMAN T-box 15 232 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) AGTGCAGAATGATCTGAAATA 0.413000 13 49 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76754779 76754779 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr18:76754779G>A ENST00000536229.3 + 1 3098 c.2389G>A c.(2389-2391)Gaa>Aaa p.E797K SALL3_ENST00000575389.2_Missense_Mutation_p.E930K|SALL3_ENST00000537592.2_Missense_Mutation_p.E930K Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 943 DDDMDE -> NDNLDK (in Ref. 2; CAB65124). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GGAGCCCCAGGAAATCCCGCT 0.746000 8 13 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33622330 33622330 + Silent SNP G G A rs111447342 byFrequency TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:33622330G>A ENST00000404816.2 + 33 5318 c.4965G>A c.(4963-4965)acG>acA p.T1655T LTBP1_ENST00000272273.5_Silent_p.T553T|LTBP1_ENST00000418533.2_Silent_p.T1287T|LTBP1_ENST00000354476.3_Silent_p.T1656T|LTBP1_ENST00000404525.1_Silent_p.T1276T|LTBP1_ENST00000390003.4_Silent_p.T1330T|LTBP1_ENST00000407925.1_Silent_p.T1329T|LTBP1_ENST00000402934.1_Silent_p.T1274T Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1655 EGF-like 17. 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) ACTTGGATACGGCCAAGATGA 0.458000 14 60 0 0 1 0 0 C7orf34 135927 broad.mit.edu 37 7 142636792 142636792 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:142636792C>T ENST00000409607.3 + 1 190 c.149C>T c.(148-150)cCt>cTt p.P50L NM_178829.4 NP_849151.2 Q96L11 CG034_HUMAN chromosome 7 open reading frame 34 25 extracellular region large_intestine(1)|lung(4) 5 Melanoma(164;0.059) CAGGTGAAGCCTCTGAACGGG 0.597000 14 110 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179408960 179408960 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:179408960G>A ENST00000589042.1 - 345 96220 c.95996C>T c.(95995-95997)tCa>tTa p.S31999L TTN_ENST00000342175.6_Missense_Mutation_p.S23126L|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29431L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S23059L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S30358L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22934L|TTN-AS1_ENST00000586707.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30358 Ig-like 142. 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) TTCAGCAATTGATTCGCTGTA 0.383000 14 40 0 0 1 0 0 ECEL1 9427 broad.mit.edu 37 2 233349920 233349920 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:233349920C>T ENST00000304546.1 - 3 1054 c.844G>A c.(844-846)Gac>Aac p.D282N ECEL1_ENST00000409941.1_Missense_Mutation_p.D282N NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 282 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) TTCTCACTGTCCTCATCCTGA 0.662000 12 30 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 63 50 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136562446 136562446 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:136562446G>A ENST00000264162.2 - 10 4365 c.4355C>T c.(4354-4356)tCc>tTc p.S1452F NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1452 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GCGAGACCAGGAGATGGAAAA 0.552000 15 47 0 0 1 0 0 AC015849.16 0 broad.mit.edu 37 17 34235834 34235834 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:34235834C>T ENST00000587132.1 - 0 2193 TATGGCAAATCCCAGGTCTGA 0.468000 10 26 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79322300 79322300 + Silent SNP A A G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:79322300A>G ENST00000428286.1 - 8 5013 c.3813T>C c.(3811-3813)gaT>gaC p.D1271D PRUNE2_ENST00000376718.3_Silent_p.D1630D Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1630 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AGGAATCACCATCAACTGAGT 0.378000 15 16 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46930172 46930172 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:46930172G>A ENST00000262738.3 - 1 2895 c.2896C>T c.(2896-2898)Ctt>Ttt p.L966F CELSR1_ENST00000395964.1_Missense_Mutation_p.L966F NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 966 Cadherin 7. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGAGCCCAAAGGTTGTACACG 0.607000 27 124 0 0 1 0 0 CYP2E1 1571 broad.mit.edu 37 10 135350688 135350688 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:135350688C>T ENST00000463117.2 + 9 1361 c.1089C>T c.(1087-1089)ctC>ctT p.L363L CYP2E1_ENST00000252945.3_Silent_p.L363L|SPRN_ENST00000541506.1_Intron P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 363 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 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;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) TCATCACCCTCGTGCCCTCCA 0.542000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 20 51 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11732253 11732253 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:11732253C>T ENST00000304623.8 - 2 358 c.169G>A c.(169-171)Gaa>Aaa p.E57K CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.E57K NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 57 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TCTACCTGTTCTTTGACTGAG 0.418000 19 107 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115384621 115384621 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:115384621G>A ENST00000369358.4 - 22 2581 c.2337C>T c.(2335-2337)ttC>ttT p.F779F NRAP_ENST00000359988.3_Silent_p.F771F|NRAP_ENST00000360478.3_Silent_p.F736F|NRAP_ENST00000369360.3_Silent_p.F744F Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 771 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GGGCCTGCAGGAAGAGAGGCT 0.532000 31 82 0 0 1 0 0 GRK7 131890 broad.mit.edu 37 3 141526512 141526512 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:141526512C>T ENST00000264952.2 + 3 1213 c.1076C>T c.(1075-1077)cCt>cTt p.P359L NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 359 Protein kinase. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 TACATGGCTCCTGAGATCCTA 0.433000 23 58 0 0 1 0 0 RNF43 54894 broad.mit.edu 37 17 56434779 56434779 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:56434779C>T ENST00000581868.1 - 8 2174 c.1977G>A c.(1975-1977)ctG>ctA p.L659L RNF43_ENST00000577625.1_Intron|RNF43_ENST00000583753.1_Intron|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Intron|RNF43_ENST00000584437.1_Intron|RNF43_ENST00000407977.2_Intron|RNF43_ENST00000500597.2_Intron Q68DV7 RNF43_HUMAN ring finger protein 43 0 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGAAATATTCAGCTGTAGTC 0.532000 9 27 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49669382 49669382 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:49669382C>T ENST00000252826.5 + 3 303 c.177C>T c.(175-177)acC>acT p.T59T TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Silent_p.T59T NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 59 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) CCGTGGTGACCGTGTGGGACA 0.701000 5 22 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227958964 227958964 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:227958964G>A ENST00000396625.3 - 20 1453 c.1246C>T c.(1246-1248)Cct>Tct p.P416S COL4A4_ENST00000329662.7_Missense_Mutation_p.P416S NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 416 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGAAGCCCAGGAAGACCAGGA 0.507000 12 33 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24413179 24413179 + Missense_Mutation SNP C C T rs140144262 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:24413179C>T ENST00000330966.7 - 15 1918 c.1756G>A c.(1756-1758)Gat>Aat p.D586N MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.D585N|MYOM3_ENST00000374434.3_Missense_Mutation_p.D585N|RP11-293P20.2_ENST00000439239.2_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 585 Fibronectin type-III 2. p.D585N(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TCCGAGGGATCGCTCAGGCCA 0.632000 16 55 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50854670 50854670 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:50854670G>A ENST00000395562.2 + 9 1454 c.985G>A c.(985-987)Gga>Aga p.G329R CHAT_ENST00000339797.1_Missense_Mutation_p.G293R|CHAT_ENST00000455728.2_Missense_Mutation_p.G293R|CHAT_ENST00000395559.2_Missense_Mutation_p.G293R|CHAT_ENST00000337653.2_Missense_Mutation_p.G411R|CHAT_ENST00000351556.3_Missense_Mutation_p.G293R NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 411 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CCTTCACGGCGGAGGCTACAG 0.637000 18 53 0 0 1 0 0 FMOD 2331 broad.mit.edu 37 1 203316497 203316497 + Missense_Mutation SNP G G T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:203316497G>T ENST00000354955.4 - 2 1365 c.902C>A c.(901-903)tCc>tAc p.S301Y FMOD_ENST00000464898.1_5'UTR NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 301 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) CTGGTTGTAGGAGAGGTCTAG 0.547000 98 95 9.98717e-52 1.01075e-51 1 1 0 MNDA 4332 broad.mit.edu 37 1 158811968 158811968 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:158811968C>T ENST00000368141.4 + 2 286 c.25C>T c.(25-27)Ctt>Ttt p.L9F MNDA_ENST00000491210.1_3'UTR NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 9 DAPIN. 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 p.L9I(1) 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) CAAGAAAATTCTTTTGCTGAA 0.308000 28 61 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237921077 237921077 + Splice_Site SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:237921077G>A ENST00000366574.2 + 82 11642 c.e82+1 RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 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) AGTACAGCAGGTAACAGCTTC 0.323000 41 72 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854537 12854537 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:12854537G>A ENST00000332296.7 + 3 864 c.761G>A c.(760-762)cGg>cAg p.R254Q NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 254 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTCCAAGGACGGTTAGTTGCC 0.438000 42 148 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233190032 233190032 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:233190032G>A ENST00000258229.8 - 25 4567 c.4333C>T c.(4333-4335)Cga>Tga p.R1445* PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.R97* NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1445 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TCCAGTCCTCGAAGTTGAAAG 0.388000 6 54 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 5 27 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95158206 95158206 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:95158206G>A ENST00000027335.3 - 15 2241 c.2117C>T c.(2116-2118)tCc>tTc p.S706F CDH17_ENST00000441892.2_Missense_Mutation_p.S492F|CDH17_ENST00000450165.2_Missense_Mutation_p.S706F NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 706 Cadherin 7. integral to membrane calcium ion binding p.S706F(1) NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) ACTGCCGAGGGAAAATGTAAA 0.433000 12 52 0 0 1 0 0 HSD3B2 3284 broad.mit.edu 37 1 119965205 119965205 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:119965205G>A ENST00000543831.1 + 4 1330 c.1081G>A c.(1081-1083)Gac>Aac p.D361N HSD3B2_ENST00000369416.3_Missense_Mutation_p.D361N NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 361 androgen 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 breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) TTCCCTTGTGGACCGGCACAA 0.502000 9 32 0 0 1 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44260419 44260419 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr18:44260419G>A ENST00000315087.7 - 7 1377 c.717C>T c.(715-717)taC>taT p.Y239Y ST8SIA5_ENST00000538168.1_Silent_p.Y275Y|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.Y208Y NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 239 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 ACGCGTTCTCGTACACCTGCA 0.627000 5 10 0 0 1 0 0 STK11IP 114790 broad.mit.edu 37 2 220479908 220479908 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:220479908C>T ENST00000456909.1 + 24 3052 c.2962C>T c.(2962-2964)Cct>Tct p.P988S STK11IP_ENST00000295641.10_Missense_Mutation_p.P999S Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 999 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGAGCCCTCTCCTCCAGCAGC 0.657000 3 11 0 0 1 0 0 SRL 6345 broad.mit.edu 37 16 4245657 4245657 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:4245657G>A ENST00000399609.3 - 5 519 c.507C>T c.(505-507)ttC>ttT p.F169F SRL_ENST00000537996.1_Silent_p.F127F NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 628 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 GCTTCTCTAGGAAATTCTGGC 0.517000 27 76 0 0 1 0 0 CRHR2 1395 broad.mit.edu 37 7 30721579 30721579 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:30721579C>T ENST00000471646.1 - 2 598 c.181G>A c.(181-183)Gag>Aag p.E61K CRHR2_ENST00000348438.4_Missense_Mutation_p.E88K|CRHR2_ENST00000341843.4_Missense_Mutation_p.E47K|CRHR2_ENST00000506074.2_Missense_Mutation_p.E61K NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 61 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CACGGCCTCTCCACGAGGGCT 0.672000 8 23 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14834333 14834333 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:14834333C>T ENST00000261170.3 - 5 826 c.690G>A c.(688-690)aaG>aaA p.K230K RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 230 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CCTGAAACTCCTTATCTTGTC 0.393000 11 44 0 0 1 0 0 HERC3 8916 broad.mit.edu 37 4 89579580 89579580 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:89579580C>T ENST00000402738.1 + 10 1323 c.1084C>T c.(1084-1086)Cat>Tat p.H362Y HERC3_ENST00000264345.3_Missense_Mutation_p.H362Y|HERC3_ENST00000543130.1_5'UTR NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 362 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) CTTTAAATATCATATCGTTAA 0.348000 5 13 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32582490 32582490 + Silent SNP G G A rs145603758 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr21:32582490G>A ENST00000286827.3 - 12 2730 c.2259C>T c.(2257-2259)aaC>aaT p.N753N TIAM1_ENST00000541036.1_Silent_p.N728N NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 753 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CGCAGTCAGGGTTGTGCTGGT 0.517000 20 80 0 0 1 0 0 BCAS3 54828 broad.mit.edu 37 17 59457901 59457901 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:59457901C>T ENST00000589222.1 + 24 2696 c.2628C>T c.(2626-2628)ccC>ccT p.P876P BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000588462.1_Silent_p.P891P|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000408905.3_Silent_p.P876P|RP11-332H18.5_ENST00000585765.1_RNA Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 0 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) AAACCTTCCCCCCTGAGAGAC 0.453000 3 33 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40440146 40440146 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:40440146G>A ENST00000319592.4 - 4 1474 c.765C>T c.(763-765)atC>atT p.I255I RBM47_ENST00000381793.2_Silent_p.I255I|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.I217I|RBM47_ENST00000381795.6_Silent_p.I255I|RBM47_ENST00000295971.7_Silent_p.I255I A0AV96 RBM47_HUMAN RNA binding motif protein 47 255 RRM 3. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CGGTGGTCTCGATCATGAGGT 0.607000 20 78 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 484802 484802 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:484802G>A ENST00000264938.3 - 5 774 c.765C>T c.(763-765)ttC>ttT p.F255F SLC9A3_ENST00000514375.1_Silent_p.F255F NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 255 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GGCTCACCACGAAGAAGGACA 0.682000 22 74 0 0 1 0 0 PRELP 5549 broad.mit.edu 37 1 203452395 203452395 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:203452395C>T ENST00000343110.2 + 2 210 c.83C>T c.(82-84)cCc>cTc p.P28L NM_002725.3|NM_201348.1 NP_002716.1|NP_958505.1 P51888 PRELP_HUMAN proline/arginine-rich end leucine-rich repeat protein 28 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent p.P28H(2) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 BRCA - Breast invasive adenocarcinoma(75;0.109) CGACCAAGACCCGGGACTGGG 0.647000 105 109 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115812183 115812183 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:115812183G>A ENST00000553380.1 - 2 146 c.147C>T c.(145-147)ttC>ttT p.F49F ZFP37_ENST00000555206.1_Intron|ZFP37_ENST00000374227.3_Intron Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 44 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 TCACATGTTTGAATGTTACTG 0.403000 19 21 0 0 1 0 0 SPATA2 9825 broad.mit.edu 37 20 48522674 48522674 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:48522674G>A ENST00000422556.1 - 3 1394 c.1045C>T c.(1045-1047)Cgg>Tgg p.R349W SPATA2_ENST00000289431.5_Missense_Mutation_p.R349W|SPATA2_ENST00000543716.1_Missense_Mutation_p.R212W NM_001135773.1 NP_001129245.1 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 349 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) GCATCCTGCCGACGGTAGGTG 0.637000 37 74 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120476817 120476817 + Missense_Mutation SNP G G A rs149989546 byFrequency TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:120476817G>A ENST00000355622.6 + 3 2512 c.2411G>A c.(2410-2412)cGg>cAg p.R804Q TLR4_ENST00000394487.4_Missense_Mutation_p.R764Q|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 804 TIR. 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 GTCCTGGGGCGGCACATCTTC 0.552000 71 72 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4935985 4935985 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:4935985C>T ENST00000322013.3 - 1 937 c.909G>A c.(907-909)caG>caA p.Q303Q MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 303 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) GATCCCGGATCTGTTTGGTCT 0.473000 3 35 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11384956 11384956 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:11384956G>A ENST00000304623.8 - 7 1187 c.998C>T c.(997-999)tCg>tTg p.S333L CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000359640.2_Missense_Mutation_p.S333L|CTNND2_ENST00000511377.1_Missense_Mutation_p.S242L NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 333 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GGTGGGGGGCGAGGTCACGCG 0.687000 7 21 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10401166 10401166 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:10401166G>A ENST00000226207.5 - 31 4344 c.4250C>T c.(4249-4251)tCc>tTc p.S1417F CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1417 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTTCTCAAGGGAAGCACATTT 0.478000 21 65 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36748260 36748260 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:36748260C>T ENST00000354618.5 + 3 320 c.96C>T c.(94-96)tcC>tcT p.S32S THRAP3_ENST00000469141.2_Silent_p.S32S NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 32 Arg-rich.|Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGTCTCGGTCCCGAAGCCGAT 0.458000 T USP6 aneurysmal bone cysts 20 52 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67271590 67271590 + Missense_Mutation SNP G G T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:67271590G>T ENST00000258201.4 - 7 971 c.724C>A c.(724-726)Cgt>Agt p.R242S FHOD1_ENST00000567687.1_Intron NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 242 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TTCACTGCACGGATGAACAGC 0.572000 24 49 1.77063e-15 1.78766e-15 1 1 0 IGHV1-45 28466 broad.mit.edu 37 14 106963063 106963063 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:106963063G>A ENST00000390621.2 - 0 276 TGTTACCATTGAAAGGTGTGA 0.552000 27 111 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72193564 72193564 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:72193564G>A ENST00000356056.5 - 23 3590 c.3118C>T c.(3118-3120)Ctc>Ttc p.L1040F MYO9A_ENST00000444904.1_Missense_Mutation_p.L1021F|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.L660F|MYO9A_ENST00000564571.1_Missense_Mutation_p.L1040F|MYO9A_ENST00000424560.1_Missense_Mutation_p.L1040F NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1040 IQ 1.|Neck or regulatory domain. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CTCAGATGGAGGAAATGCTGC 0.448000 13 35 0 0 1 0 0 SYT8 90019 broad.mit.edu 37 11 1857719 1857719 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:1857719C>T ENST00000341958.3 + 5 883 c.581C>T c.(580-582)tCg>tTg p.S194L SYT8_ENST00000535046.1_3'UTR|SYT8_ENST00000381968.3_Missense_Mutation_p.S208L Q8NBV8 SYT8_HUMAN synaptotagmin VIII 208 C2 1. acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AAGCGCTTCTCGGGGCATGAG 0.672000 5 31 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62212823 62212823 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:62212823C>T ENST00000519846.1 + 3 909 c.437C>T c.(436-438)gCc>gTc p.A146V CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Missense_Mutation_p.A146V Q8IUQ0 CLVS1_HUMAN clavesin 1 146 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CTGTTTGCAGCCAATTGGGAT 0.448000 17 42 0 0 1 0 0 USP43 124739 broad.mit.edu 37 17 9631945 9631945 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:9631945C>T ENST00000570827.2 + 15 3151 c.2077C>T c.(2077-2079)Cgg>Tgg p.R693W USP43_ENST00000570475.1_Missense_Mutation_p.R999W|USP43_ENST00000285199.6_Missense_Mutation_p.R1004W Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 1004 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 GTCCGTGTTTCGGAAGAAGGA 0.602000 7 36 0 0 1 0 0 ESRP1 54845 broad.mit.edu 37 8 95680314 95680314 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:95680314G>A ENST00000433389.2 + 10 1259 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K ESRP1_ENST00000454170.2_Missense_Mutation_p.E357K|ESRP1_ENST00000423620.2_Missense_Mutation_p.E357K|ESRP1_ENST00000358397.5_Missense_Mutation_p.E357K NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 357 RRM 2. mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 TGGGGGAAAGGAAGGCATCCT 0.527000 20 81 0 0 1 0 0 LDB3 11155 broad.mit.edu 37 10 88466448 88466448 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:88466448C>T ENST00000361373.4 + 7 1078 c.1057C>T c.(1057-1059)Cct>Tct p.P353S LDB3_ENST00000458213.2_Intron|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000352360.5_Intron NM_007078.2 NP_009009.1 O75112 LDB3_HUMAN LIM domain binding 3 353 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 CACCACAGCCCCTGCTTCAAG 0.672000 9 37 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88729662 88729662 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:88729662G>A ENST00000340700.5 - 2 722 c.271C>T c.(271-273)Cgg>Tgg p.R91W KCNK10_ENST00000319231.5_Missense_Mutation_p.R96W|KCNK10_ENST00000312350.5_Missense_Mutation_p.R96W NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 91 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity p.R96W(1)|p.R91W(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 TCCAATGCCCGGAAGACAAGA 0.572000 13 64 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9057341 9057341 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:9057341G>A ENST00000383836.3 - 15 2180 c.1753C>T c.(1753-1755)Cga>Tga p.R585* SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000360413.3_Nonsense_Mutation_p.R561*|SRGAP3_ENST00000433332.3_5'UTR NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 585 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TCCAGTCCTCGGAAATACAGT 0.388000 T RAF1 pilocytic astrocytoma 19 47 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41385279 41385279 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr21:41385279C>T ENST00000400454.1 - 33 6198 c.5721G>A c.(5719-5721)atG>atA p.M1907I NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1907 HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ACAAAAAGTCCATTCTAAGGT 0.498000 18 42 0 0 1 0 0 OSBPL3 26031 broad.mit.edu 37 7 24902892 24902892 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:24902892G>A ENST00000313367.2 - 9 1248 c.797C>T c.(796-798)cCc>cTc p.P266L OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000396431.1_Intron|OSBPL3_ENST00000396429.1_Missense_Mutation_p.P266L|OSBPL3_ENST00000352860.1_Intron|OSBPL3_ENST00000353930.1_Missense_Mutation_p.P266L NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 266 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 TTCCTTTTTGGGACTTTCAAA 0.458000 36 52 0 0 1 0 0 OR56A4 120793 broad.mit.edu 37 11 6024114 6024114 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:6024114G>A ENST00000330728.4 - 1 310 c.265C>T c.(265-267)Ctc>Ttc p.L89F NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L89I(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGAGGAAGAGAAGGCTGAGG 0.592000 16 42 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38976453 38976453 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:38976453G>A ENST00000355481.4 + 34 5289 c.5158G>A c.(5158-5160)Gaa>Aaa p.E1720K RYR1_ENST00000360985.3_Missense_Mutation_p.E1720K|RYR1_ENST00000359596.3_Missense_Mutation_p.E1720K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1720 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CATCCACCTCGAAAGTGCCTG 0.647000 21 90 0 0 1 0 0 TAP2 6891 broad.mit.edu 37 6 32798422 32798422 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:32798422G>A ENST00000374897.2 - 8 1565 c.1434C>T c.(1432-1434)ccC>ccT p.P478P TAP2_ENST00000374899.4_Silent_p.P478P|TAP2_ENST00000452392.2_Silent_p.P478P NM_000544.3 NP_000535.3 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 478 ABC transporter. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding CAGGGCGATTGGGATATGCAA 0.542000 5 62 0 0 1 0 0 AK4 205 broad.mit.edu 37 1 65684562 65684562 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:65684562C>T ENST00000395334.2 + 4 749 c.391C>T c.(391-393)Cct>Tct p.P131S AK4_ENST00000545314.1_Missense_Mutation_p.P131S|AK4_ENST00000470888.2_3'UTR|AK4_ENST00000327299.7_Missense_Mutation_p.P131S|AK4_ENST00000546702.1_Missense_Mutation_p.P79S NM_001005353.2 NP_001005353.1 P27144 KAD4_HUMAN adenylate kinase 4 131 mitochondrial matrix adenylate kinase activity|ATP binding|GTP binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1) 9 GATTCACCCTCCTAGCGGAAG 0.408000 14 30 0 0 1 0 0 MAEL 84944 broad.mit.edu 37 1 166973437 166973437 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:166973437C>T ENST00000367872.4 + 6 788 c.544C>T c.(544-546)Cct>Tct p.P182S MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.P151S NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 182 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 TCACAAGATTCCTATTTCAAA 0.388000 68 68 0 0 1 0 0 GPR63 81491 broad.mit.edu 37 6 97247344 97247344 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:97247344C>T ENST00000229955.3 - 2 609 c.264G>A c.(262-264)atG>atA p.M88I GPR63_ENST00000417980.1_Missense_Mutation_p.M88I NM_001143957.2|NM_030784.3 NP_001137429.1|NP_110411.1 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 88 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) GAATGAATATCATTATAGCAG 0.433000 22 50 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196749451 196749451 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:196749451C>T ENST00000312428.6 - 35 5721 c.5621G>A c.(5620-5622)cGa>cAa p.R1874Q NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1874 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CATTAGTTCTCGAAGAATCTT 0.383000 13 39 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138442600 138442600 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:138442600C>T ENST00000344876.4 - 4 3377 c.2991G>A c.(2989-2991)ggG>ggA p.G997G PCDH18_ENST00000511115.1_Silent_p.G177G|PCDH18_ENST00000412923.2_Silent_p.G996G|PCDH18_ENST00000507846.1_Silent_p.G776G|PCDH18_ENST00000510305.1_Silent_p.G208G NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 997 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGCTGGTATCCCCAGTGTCCT 0.507000 15 66 0 0 1 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625327 140625327 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140625327G>A ENST00000231173.3 + 1 181 c.181G>A c.(181-183)Gag>Aag p.E61K NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 61 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding 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) GGAGCTAGCCGAGCGGGGAGC 0.552000 20 63 0 0 1 0 0 HCP5 10866 broad.mit.edu 37 6 31431753 31431753 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:31431753C>T ENST00000414046.2 + 0 825 NR_040662.1 Q6MZN7 HCP5_HUMAN defense response urinary_tract(1) 1 ccgctggtctctggacacata 0.527000 49 108 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 4 114 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62192525 62192525 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:62192525C>T ENST00000467148.1 - 14 7125 c.7056G>A c.(7054-7056)ctG>ctA p.L2352L HELZ2_ENST00000427522.2_Silent_p.L1783L NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator GCCTCACGTCCAGGATTTTGA 0.602000 18 86 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3216752 3216752 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:3216752G>A ENST00000520002.1 - 22 3784 c.3229C>T c.(3229-3231)Cgt>Tgt p.R1077C CSMD1_ENST00000602723.1_Missense_Mutation_p.R1077C|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1077C|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1077C|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1076C|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1076C|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1076C Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1077 Sushi 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCTTCTAAACGATATCCCAGG 0.557000 21 64 0 0 1 0 0 RHBDD2 57414 broad.mit.edu 37 7 75513071 75513071 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:75513071C>T ENST00000318622.4 + 4 848 c.219C>T c.(217-219)ctC>ctT p.L73L RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000006777.6_Silent_p.L214L|RHBDD2_ENST00000428119.1_Silent_p.L73L NM_001040457.1 NP_001035547.1 Q6NTF9 RHBD2_HUMAN rhomboid domain containing 2 214 integral to membrane serine-type endopeptidase activity kidney(1)|lung(4)|prostate(1) 6 CACTGAAGCTCGATCAGACCT 0.557000 92 123 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86087990 86087990 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:86087990G>A ENST00000330753.4 + 2 899 c.132G>A c.(130-132)agG>agA p.R44R FLRT2_ENST00000554746.1_Silent_p.R44R NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 44 LRRNT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) GCTGCGACAGGAACTTTGTCT 0.507000 32 111 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38622578 38622578 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:38622578C>T ENST00000413689.1 - 17 3265 c.3072G>A c.(3070-3072)aaG>aaA p.K1024K SCN5A_ENST00000455624.2_Silent_p.K1024K|SCN5A_ENST00000450102.2_Silent_p.K1024K|SCN5A_ENST00000449557.2_Silent_p.K1024K|SCN5A_ENST00000443581.1_Silent_p.K1024K|SCN5A_ENST00000425664.1_Silent_p.K1024K|SCN5A_ENST00000423572.2_Silent_p.K1024K|SCN5A_ENST00000414099.2_Silent_p.K1024K|SCN5A_ENST00000333535.4_Silent_p.K1024K|SCN5A_ENST00000451551.2_Silent_p.K1024K NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1024 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) ACCGTGTTTCCTTGCGGGTGG 0.682000 6 29 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53960452 53960452 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:53960452C>T ENST00000454407.1 + 0 3144 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) AATGCTACAACCATTGTGAAT 0.393000 9 18 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16327798 16327798 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:16327798G>A ENST00000244769.4 - 8 1680 c.744C>T c.(742-744)gtC>gtT p.V248V ATXN1_ENST00000436367.1_Silent_p.V248V NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 248 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) TGGAAATGTGGACGTACTGGT 0.672000 11 6 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130413282 130413282 + Silent SNP G G T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:130413282G>T ENST00000370904.1 - 16 2563 c.1653C>A c.(1651-1653)gtC>gtA p.V551V IGSF1_ENST00000370910.1_Silent_p.V551V|IGSF1_ENST00000370903.3_Silent_p.V560V|IGSF1_ENST00000361420.3_Silent_p.V560V Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 560 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 AGAGCATGGTGACCCCTTGAG 0.617000 11 19 6.31663e-08 6.34685e-08 1 1 0 CYP4F12 66002 broad.mit.edu 37 19 15794543 15794543 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:15794543G>A ENST00000550308.1 + 7 1268 c.888G>A c.(886-888)ttG>ttA p.L296L CYP4F12_ENST00000324632.9_Silent_p.L296L NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CCAAGACTTTGGATTTCATTG 0.443000 38 133 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89971984 89971984 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:89971984G>A ENST00000405460.2 + 25 5497 c.5401G>A c.(5401-5403)Gaa>Aaa p.E1801K GPR98_ENST00000450321.2_3'UTR NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1801 Calx-beta 12. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCCTGAACTGGAAAAATCTTT 0.318000 5 18 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111430824 111430824 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:111430824C>T ENST00000265162.5 + 5 1397 c.1055C>T c.(1054-1056)cCa>cTa p.P352L NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 352 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) ATCGCTATTCCAGATTTTGGC 0.393000 20 56 0 0 1 0 0 SCN3B 55800 broad.mit.edu 37 11 123516298 123516298 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:123516298G>A ENST00000392770.2 - 2 1018 c.216C>T c.(214-216)ttC>ttT p.F72F SCN3B_ENST00000299333.3_Silent_p.F72F|SCN3B_ENST00000530277.1_Silent_p.F72F NM_018400.3 NP_060870.1 Q9NY72 SCN3B_HUMAN sodium channel, voltage-gated, type III, beta subunit 72 Ig-like C2-type. axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity p.F72L(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2) 26 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;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) AACATACAAGGAAATCTTTAC 0.572000 25 81 0 0 1 0 0 LYN 4067 broad.mit.edu 37 8 56866538 56866538 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:56866538G>A ENST00000520220.2 + 8 996 c.722G>A c.(721-723)tGg>tAg p.W241* LYN_ENST00000519728.1_Nonsense_Mutation_p.W262* NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 262 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 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) GGGGAAGTCTGGATGGGTAAG 0.542000 16 95 0 0 1 0 0 IPO4 79711 broad.mit.edu 37 14 24655657 24655657 + Splice_Site SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:24655657C>T ENST00000354464.6 - 10 1017 c.840_splice c.e10-1 p.A281_splice RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 281 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) TTCAGTAAGGCCTTGACAGAG 0.542000 29 88 0 0 1 0 0 TRIM29 23650 broad.mit.edu 37 11 119991365 119991365 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:119991365G>A ENST00000341846.5 - 6 1865 c.1444C>T c.(1444-1446)Cgg>Tgg p.R482W TRIM29_ENST00000541857.1_Missense_Mutation_p.R215W|TRIM29_ENST00000524816.3_Missense_Mutation_p.R48W|TRIM29_ENST00000529044.1_Missense_Mutation_p.R221W|TRIM29_ENST00000525887.1_5'UTR|TRIM29_ENST00000528870.1_Missense_Mutation_p.R15W NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 482 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) TATGATGTCCGGACCCCACCT 0.537000 6 12 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9417781 9417781 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:9417781G>A ENST00000378501.2 + 26 2725 c.2710G>A c.(2710-2712)Ggt>Agt p.G904S PLCB4_ENST00000378473.3_Missense_Mutation_p.G916S|PLCB4_ENST00000414679.2_Missense_Mutation_p.G916S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.G904S|PLCB4_ENST00000278655.4_Missense_Mutation_p.G904S|PLCB4_ENST00000378493.1_Missense_Mutation_p.G904S NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 904 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CCTGGCCTCTGGTGTGGAAGC 0.483000 7 20 0 0 1 0 0 SLC13A2 9058 broad.mit.edu 37 17 26821419 26821419 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:26821419G>A ENST00000444914.3 + 9 1764 c.1344G>A c.(1342-1344)ggG>ggA p.G448G SLC13A2_ENST00000545060.1_Silent_p.G356G|SLC13A2_ENST00000314669.5_Silent_p.G399G|SLC13A2_ENST00000537681.1_Silent_p.G328G NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 399 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) AAAACCCAGGGAAGCTGAAGG 0.557000 OREG0024276 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 66 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47172522 47172522 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:47172522G>A ENST00000447411.1 - 10 961 c.755C>T c.(754-756)cCt>cTt p.P252L SLC38A4_ENST00000266579.4_Missense_Mutation_p.P252L NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 252 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) ATCCAAAACAGGTAGAGGGCA 0.358000 9 37 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54520288 54520288 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:54520288C>T ENST00000566473.2 + 9 1102 c.1102C>T c.(1102-1104)Cct>Tct p.P368S ANKFN1_ENST00000318698.2_Missense_Mutation_p.P368S Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 368 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 ATGTGCCTCTCCTTCTAGTAG 0.512000 14 45 0 0 1 0 0 IL36B 27177 broad.mit.edu 37 2 113786608 113786608 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:113786608C>T ENST00000259213.4 - 4 276 c.169G>A c.(169-171)Gaa>Aaa p.E57K IL36B_ENST00000327407.2_Missense_Mutation_p.E57K NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 57 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 TTACCCTTTTCCTTGTCACTG 0.418000 15 53 0 0 1 0 0 ART5 116969 broad.mit.edu 37 11 3660081 3660081 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:3660081G>A ENST00000397067.3 - 4 814 c.685C>T c.(685-687)Cct>Tct p.P229S ART5_ENST00000397068.3_Intron|ART5_ENST00000359918.4_Intron Q96L15 NAR5_HUMAN ADP-ribosyltransferase 5 226 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1) 11 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) AACTCTCCAGGGGCCAAGAGC 0.597000 10 28 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116429581 116429581 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:116429581G>A ENST00000281928.3 - 17 3384 c.3178C>T c.(3178-3180)Ccc>Tcc p.P1060S NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1060 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) CCACCTCTGGGAGTTCTTGGG 0.607000 16 69 0 0 1 0 0 CYP3A43 64816 broad.mit.edu 37 7 99434119 99434119 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:99434119C>T ENST00000354829.2 + 2 218 c.115C>T c.(115-117)Cct>Tct p.P39S CYP3A43_ENST00000415413.1_Missense_Mutation_p.P39S|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000417625.1_Missense_Mutation_p.P39S|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P39S|CYP3A43_ENST00000421837.2_Missense_Mutation_p.P39S|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P39S|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000477658.1_Intron NM_022820.3|NM_057095.1 NP_073731.1|NP_476436.1 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 39 YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) GCTGGGAATTCCTGGGCCAAC 0.388000 7 54 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50964915 50964915 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:50964915G>A ENST00000374103.4 - 3 367 c.282C>T c.(280-282)gtC>gtT p.V94V OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Intron NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 94 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TGCTCTCATGGACAACAGAAG 0.592000 15 65 0 0 1 0 0 R3HDM1 23518 broad.mit.edu 37 2 136481533 136481533 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:136481533G>A ENST00000264160.4 + 26 3341 c.2971G>A c.(2971-2973)Gaa>Aaa p.E991K R3HDM1_ENST00000409606.1_Missense_Mutation_p.E992K|R3HDM1_ENST00000410054.1_Missense_Mutation_p.E936K|R3HDM1_ENST00000409478.1_Missense_Mutation_p.E863K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.E862K NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 991 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) GGAAATTACTGAACTACCAGA 0.443000 30 80 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99640787 99640787 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:99640787C>T ENST00000345514.2 - 3 2439 c.2173G>A c.(2173-2175)Gac>Aac p.D725N BCL11B_ENST00000357195.3_Missense_Mutation_p.D796N|BCL11B_ENST00000443726.2_Missense_Mutation_p.D602N NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 796 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) TCGCACGTGTCGCTGCGGCGG 0.731000 T TLX3 T-ALL 5 16 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142563804 142563804 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:142563804C>T ENST00000392957.2 + 9 1979 c.1192C>T c.(1192-1194)Cga>Tga p.R398* EPHB6_ENST00000411471.2_Nonsense_Mutation_p.R121*|EPHB6_ENST00000442129.1_Nonsense_Mutation_p.R398* NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 398 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GCTGGGGGGTCGAGGGGACCT 0.652000 7 20 0 0 1 0 0 TAF15 8148 broad.mit.edu 37 17 34171931 34171931 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:34171931G>A ENST00000588240.1 + 15 1743 c.1628G>A c.(1627-1629)gGa>gAa p.G543E TAF15_ENST00000592237.1_Missense_Mutation_p.E348K|TAF15_ENST00000311979.3_Missense_Mutation_p.G540E NM_003487.3|NM_139215.2 NP_003478.1|NP_631961.1 Q92804 RBP56_HUMAN TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 543 21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) lung(1)|ovary(1)|skin(2)|stomach(1) 5 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GGCTACGGTGGAGACCGAAGT 0.622000 T """TEC, CHN1, ZNF384""" """extraskeletal myxoid chondrosarcomas, ALL""" 31 87 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95720248 95720248 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:95720248G>A ENST00000480546.1 - 0 1049 NR_002319.2 GAGCCTTTTGGGGGGCTGGTC 0.512000 10 40 0 0 1 0 0 OR6C75 390323 broad.mit.edu 37 12 55759080 55759080 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:55759080G>A ENST00000343399.3 + 1 186 c.186G>A c.(184-186)cgG>cgA p.R62R NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 TCTTCCTTCGGAACTTCTCAT 0.433000 32 113 0 0 1 0 0 WNT9B 7484 broad.mit.edu 37 17 44949961 44949961 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:44949961G>A ENST00000393461.2 + 2 209 c.156G>A c.(154-156)ctG>ctA p.L52L WNT9B_ENST00000290015.2_Silent_p.L52L O14905 WNT9B_HUMAN wingless-type MMTV integration site family, member 9B 52 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) GGGCCCACCTGAAGCAGTGTG 0.701000 18 99 0 0 1 0 0 CYP2B6 1555 broad.mit.edu 37 19 41510037 41510037 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:41510037C>T ENST00000324071.4 + 2 310 c.303C>T c.(301-303)atC>atT p.I101I CYP2B6_ENST00000593831.1_Silent_p.I25I|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Silent_p.I61I NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 101 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) GGGGAAAAATCGCCATGGTCG 0.622000 20 88 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51171321 51171321 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:51171321C>T ENST00000440970.1 - 3 3817 c.3386G>A c.(3385-3387)gGa>gAa p.G1129E SALL1_ENST00000541611.1_Missense_Mutation_p.G49E|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000251020.4_Missense_Mutation_p.G1226E NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1226 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ATCCCCACTTCCTGATCTTGC 0.567000 8 19 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1617042 1617042 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:1617042C>T ENST00000381580.1 - 3 620 c.441G>A c.(439-441)ctG>ctA p.L147L SIRPG_ENST00000303415.3_Silent_p.L180L|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Silent_p.L180L|SIRPG_ENST00000216927.4_Silent_p.L180L|RP11-77C3.3_ENST00000456177.1_RNA Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 180 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 TGAACCATTTCAGGGTGATGT 0.577000 43 84 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30095735 30095735 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:30095735G>A ENST00000331968.5 - 12 1982 c.1753C>T c.(1753-1755)Cct>Tct p.P585S PRKD1_ENST00000415220.2_Missense_Mutation_p.P593S NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 585 Protein kinase. P -> S (in a metastatic melanoma sample; somatic mutation). cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) ACTTCATCAGGAAAAATCTGA 0.313000 11 53 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34011799 34011799 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:34011799C>T ENST00000373381.4 - 57 9114 c.8938G>A c.(8938-8940)Ggt>Agt p.G2980S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2953 Sushi 22. 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) CCAGGGTCACCGCAAACTCCC 0.562000 11 20 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46657416 46657416 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:46657416C>T ENST00000253255.5 - 1 1803 c.1804G>A c.(1804-1806)Gat>Aat p.D602N NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 602 REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CTGTGCAAATCAGAAACAATT 0.413000 21 90 0 0 1 0 0 TMEM56 148534 broad.mit.edu 37 1 95639398 95639398 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:95639398G>A ENST00000370203.4 + 6 717 c.426G>A c.(424-426)ggG>ggA p.G142G RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.6_ENST00000604534.1_Silent_p.G142G NM_001199679.1|NM_152487.2 NP_001186608.1|NP_689700.1 Q96MV1 TMM56_HUMAN transmembrane protein 56 142 TLC. integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 12 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) CATACATTGGGAATTTTCGCC 0.353000 12 65 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35957389 35957389 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:35957389C>T ENST00000274278.3 - 5 1333 c.976G>A c.(976-978)Gga>Aga p.G326R UGT3A1_ENST00000503189.1_Missense_Mutation_p.G326R|UGT3A1_ENST00000507113.1_Missense_Mutation_p.G292R|UGT3A1_ENST00000513233.1_5'UTR NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 326 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CATATCACTCCTTGAGGGAGG 0.507000 12 51 0 0 1 0 0 TRAV27 28655 broad.mit.edu 37 14 22616497 22616497 + RNA SNP A A G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:22616497A>G ENST00000390457.2 + 0 335 GAAGAGACTAACCTTTCAGTT 0.517000 19 38 0 0 1 0 0 CPSF1 29894 broad.mit.edu 37 8 145620234 145620234 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:145620234C>T ENST00000349769.3 - 30 3371 c.3277G>A c.(3277-3279)Gag>Aag p.E1093K NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 1093 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) TCCTGCAGCTCGATCCTGTGG 0.672000 38 75 0 0 1 0 0 IGBP1 3476 broad.mit.edu 37 X 69370141 69370141 + Missense_Mutation SNP A A C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:69370141A>C ENST00000342206.6 + 5 1339 c.840A>C c.(838-840)ttA>ttC p.L280F IGBP1_ENST00000356413.4_Missense_Mutation_p.L280F P78318 IGBP1_HUMAN immunoglobulin (CD79A) binding protein 1 280 B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction cytoplasm protein phosphatase type 2A regulator activity kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2) 11 ATGGAGCATTACCGGATCAGG 0.468000 8 15 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178413359 178413359 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:178413359G>A ENST00000231188.5 - 8 2074 c.1896C>T c.(1894-1896)ttC>ttT p.F632F GRM6_ENST00000517717.1_Silent_p.F632F|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 632 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CGTAGATGAGGAAGATGCCGG 0.662000 16 38 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66433646 66433646 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:66433646G>A ENST00000383703.3 - 16 2785 c.2182C>T c.(2182-2184)Cag>Tag p.Q728* LRIG1_ENST00000273261.3_Nonsense_Mutation_p.Q751*|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 751 Ig-like C2-type 3. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) ACCACGTTCTGAACCACCAGG 0.657000 14 76 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45701664 45701664 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:45701664C>T ENST00000297323.7 + 8 1478 c.1456C>T c.(1456-1458)Cca>Tca p.P486S ADCY1_ENST00000432715.1_Missense_Mutation_p.P261S NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 486 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding p.P486S(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) ACAGATATTTCCAGGCCTGAT 0.488000 19 41 0 0 1 0 0 OR10Q1 219960 broad.mit.edu 37 11 57996005 57996005 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:57996005C>T ENST00000316770.2 - 1 385 c.343G>A c.(343-345)Gac>Aac p.D115N NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) AGGAAACAGTCCGTGCTGCCG 0.557000 10 42 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131866214 131866214 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:131866214G>A ENST00000359827.3 - 18 4380 c.3418C>T c.(3418-3420)Ccc>Tcc p.P1140S PLXNA4_ENST00000321063.4_Missense_Mutation_p.P1140S Q9HCM2 PLXA4_HUMAN plexin A4 1140 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 ACCGGGTTGGGATAGTAGGTG 0.587000 29 252 0 0 1 0 0 GOLGA2P9 440518 broad.mit.edu 37 19 22785447 22785447 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:22785447G>A ENST00000600260.1 + 0 1536 NR_033899.1 GGACCTGAAAGAGCGGGTGGA 0.602000 25 88 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120277 38120277 + Missense_Mutation SNP C C G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:38120277C>G ENST00000406386.3 + 7 1969 c.1714C>G c.(1714-1716)Cga>Gga p.R572G RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 572 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TAGAGCCACACGAGACAACCC 0.587000 15 157 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144994645 144994645 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:144994645G>A ENST00000322810.4 - 32 9924 c.9755C>T c.(9754-9756)tCc>tTc p.S3252F PLEC_ENST00000356346.3_Missense_Mutation_p.S3101F|PLEC_ENST00000357649.2_Missense_Mutation_p.S3119F|PLEC_ENST00000345136.3_Missense_Mutation_p.S3115F|PLEC_ENST00000527096.1_Missense_Mutation_p.S3138F|PLEC_ENST00000354589.3_Missense_Mutation_p.S3115F|PLEC_ENST00000398774.2_Missense_Mutation_p.S3083F|PLEC_ENST00000436759.2_Missense_Mutation_p.S3142F|PLEC_ENST00000354958.2_Missense_Mutation_p.S3093F NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3252 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CTGGAACAGGGAGACGCTCTG 0.657000 12 34 0 0 1 0 0 MGLL 11343 broad.mit.edu 37 3 127411060 127411060 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:127411060C>T ENST00000434178.2 - 8 1789 c.893G>A c.(892-894)gGa>gAa p.G298E MGLL_ENST00000265052.5_Missense_Mutation_p.G308E|MGLL_ENST00000453507.2_Missense_Mutation_p.G278E|MGLL_ENST00000398104.1_Missense_Mutation_p.G298E|MGLL_ENST00000398101.3_Missense_Mutation_p.G272E|MGLL_ENST00000476682.1_5'UTR Q99685 MGLL_HUMAN monoglyceride lipase 298 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 GGACGCAGTTCCTGCCGTGGC 0.567000 15 49 0 0 1 0 0 HIPK3 10114 broad.mit.edu 37 11 33361035 33361035 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:33361035C>T ENST00000303296.4 + 6 1873 c.1568C>T c.(1567-1569)cCt>cTt p.P523L HIPK3_ENST00000456517.1_Missense_Mutation_p.P523L|HIPK3_ENST00000379016.3_Missense_Mutation_p.P523L|HIPK3_ENST00000525975.1_Missense_Mutation_p.P523L NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 523 Protein kinase. anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 CTGAACCATCCTTTTGTTAAT 0.333000 38 101 0 0 1 0 0 ASB10 136371 broad.mit.edu 37 7 150878096 150878096 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:150878096C>T ENST00000422024.1 - 3 1294 c.1169G>A c.(1168-1170)aGc>aAc p.S390N ASB10_ENST00000420175.2_Missense_Mutation_p.S345N|ASB10_ENST00000275838.1_Missense_Mutation_p.S345N|ASB10_ENST00000434669.1_Missense_Mutation_p.S390N|ASB10_ENST00000377867.3_Missense_Mutation_p.S330N NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 345 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTGCTCGGGGCTCTGGGCCAG 0.687000 8 66 0 0 1 0 0 MIEF2 125170 broad.mit.edu 37 17 18167901 18167901 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:18167901C>T ENST00000323019.4 + 4 1399 c.1188C>T c.(1186-1188)gcC>gcT p.A396A SMCR7_ENST00000395706.2_Silent_p.A407A|SMCR7_ENST00000395704.4_3'UTR NM_001144900.1|NM_139162.3 NP_001138372.1|NP_631901.2 Q96C03 SMCR7_HUMAN 396 integral to membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(4) 9 all_neural(463;0.228) CGGAGGAGGCCTTGGGTGAGC 0.662000 16 75 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22171589 22171589 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:22171589G>A ENST00000397126.4 - 2 274 c.126C>T c.(124-126)ttC>ttT p.F42F ZNF208_ENST00000597040.1_Silent_p.F10F|ZNF208_ENST00000599916.1_Silent_p.F42F|ZNF208_ENST00000601773.1_Silent_p.F42F 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) TCTCACCCAGGAAGACCAGGT 0.418000 21 123 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47835655 47835655 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:47835655C>T ENST00000289672.2 - 55 8337 c.8287G>A c.(8287-8289)Gaa>Aaa p.E2763K C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2763 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGGACCTTTTCCCACATATAA 0.398000 16 116 0 0 1 0 0 PRKAG3 53632 broad.mit.edu 37 2 219695497 219695497 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:219695497C>T ENST00000439262.2 - 3 221 c.126G>A c.(124-126)gaG>gaA p.E42E PRKAG3_ENST00000529249.1_Silent_p.E67E|PRKAG3_ENST00000392098.3_Silent_p.E67E|PRKAG3_ENST00000545803.1_5'UTR NM_017431.2 NP_059127.2 Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 67 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTCCCCTTCCTCCACCGACT 0.617000 27 90 0 0 1 0 0 HHLA2 11148 broad.mit.edu 37 3 108072513 108072513 + Missense_Mutation SNP G G T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:108072513G>T ENST00000357759.5 + 4 718 c.304G>T c.(304-306)Ggg>Tgg p.G102W HHLA2_ENST00000491820.1_Missense_Mutation_p.G102W|HHLA2_ENST00000489514.2_Missense_Mutation_p.G102W|HHLA2_ENST00000467562.1_Intron|HHLA2_ENST00000467761.1_Missense_Mutation_p.G102W NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 102 Ig-like V-type 1. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 GATTCAAAATGGGAATGCGTC 0.398000 9 45 0.00448238 0.0044904 1 1 0 DSPP 1834 broad.mit.edu 37 4 88533577 88533577 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:88533577G>A ENST00000399271.1 + 4 359 c.239G>A c.(238-240)gGg>gAg p.G80E RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.G80E NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 80 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) AAGGGAGAAGGGAATGGCTCT 0.468000 9 22 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37187934 37187934 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:37187934C>T ENST00000425901.2 + 0 1776 NR_033753.2 CCTTTTCCAACCATGCAGAAG 0.488000 12 26 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784663 140784663 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140784663G>A ENST00000573521.1 + 1 2144 c.2144G>A c.(2143-2145)aGg>aAg p.R715K PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGCCCTCAGGCTGAGGCAC 0.602000 31 68 0 0 1 0 0 LOC150776 150776 broad.mit.edu 37 2 132258981 132258981 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:132258981C>T ENST00000438378.2 + 0 931 NR_026922.1 CCTATTTCATCCTGGTGGACA 0.617000 7 24 0 0 1 0 0 KCNG2 26251 broad.mit.edu 37 18 77623902 77623902 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr18:77623902C>T ENST00000316249.3 + 1 235 c.235C>T c.(235-237)Cgc>Tgc p.R79C NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 79 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) GTGCGCCTTCCGCGCCATCGT 0.711000 4 13 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153692617 153692617 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:153692617C>T ENST00000369682.3 + 8 1964 c.1789C>T c.(1789-1791)Ccc>Tcc p.P597S NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 597 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) CTGCCCCTCACCCTCCCTCCA 0.697000 11 10 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10351212 10351212 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:10351212C>T ENST00000255381.2 - 34 4998 c.4888G>A c.(4888-4890)Gaa>Aaa p.E1630K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1630 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 AGCTGGATTTCCATTTCATTA 0.453000 44 145 0 0 1 0 0 GABRP 2568 broad.mit.edu 37 5 170232728 170232728 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:170232728G>A ENST00000518525.1 + 8 1014 c.550G>A c.(550-552)Gat>Aat p.D184N GABRP_ENST00000519385.1_Missense_Mutation_p.D184N|GABRP_ENST00000265294.4_Missense_Mutation_p.D184N|GABRP_ENST00000519598.1_Missense_Mutation_p.D184N O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 184 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGGGGGCTATGATGGAAATGA 0.502000 7 28 0 0 1 0 0 MAP7D2 256714 broad.mit.edu 37 X 20134933 20134933 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:20134933G>A ENST00000379651.3 - 1 83 c.65C>T c.(64-66)tCt>tTt p.S22F MAP7D2_ENST00000379643.5_Missense_Mutation_p.S22F|MAP7D2_ENST00000443379.3_Missense_Mutation_p.S22F NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 22 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 CCCTGGGAGAGAGGTTCCCCG 0.726000 7 6 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1906863 1906863 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:1906863C>T ENST00000399161.2 - 14 2768 c.2021G>A c.(2020-2022)gGa>gAa p.G674E MYT1L_ENST00000428368.2_Missense_Mutation_p.G672E NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 674 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) ATCATCATATCCTTTGGGGGA 0.423000 15 60 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32712384 32712384 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:32712384G>A ENST00000265074.8 + 1 845 c.502G>A c.(502-504)Gac>Aac p.D168N NPR3_ENST00000415167.2_Missense_Mutation_p.D168N|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 168 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) CCAGCACAAGGACTCTGAGTA 0.682000 36 114 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55534013 55534013 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:55534013G>A ENST00000220676.1 + 2 635 c.487G>A c.(487-489)Gac>Aac p.D163N NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 163 Doublecortin 2. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CAGGAATGGCGACCCGAAGAC 0.662000 41 109 0 0 1 0 0 SFXN4 119559 broad.mit.edu 37 10 120914603 120914603 + Silent SNP G G A rs144336585 byFrequency TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:120914603G>A ENST00000355697.2 - 11 722 c.703C>T c.(703-705)Ctg>Ttg p.L235L SFXN4_ENST00000330036.6_Silent_p.L226L|SFXN4_ENST00000461438.1_5'UTR NM_213649.1 NP_998814.1 Q6P4A7 SFXN4_HUMAN sideroflexin 4 235 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 11 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0261) GAATGACCCAGGACATTGCCT 0.468000 19 63 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12163817 12163817 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:12163817C>T ENST00000379388.2 + 9 7612 c.7280C>T c.(7279-7281)aCg>aTg p.T2427M HIVEP1_ENST00000541134.1_Missense_Mutation_p.T292M NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2427 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GTGCAGCTCACGATCCCTGCT 0.517000 42 71 0 0 1 0 0 SGMS1 259230 broad.mit.edu 37 10 52066965 52066965 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:52066965G>A ENST00000361781.2 - 11 2138 c.1179C>T c.(1177-1179)ttC>ttT p.F393F SGMS1_ENST00000429490.1_Silent_p.F224F NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 399 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 CTGGCCAGGGGAAAGGCCAAT 0.483000 12 36 0 0 1 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51955852 51955852 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:51955852G>A ENST00000321424.3 - 7 1347 c.1281C>T c.(1279-1281)ccC>ccT p.P427P SIGLEC8_ENST00000430817.1_Silent_p.P318P|SIGLEC8_ENST00000340550.5_Silent_p.P334P NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 427 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) GCTTCTTCAGGGGGTTGCCAT 0.592000 12 35 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33592401 33592401 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:33592401G>A ENST00000228567.3 - 1 353 c.57C>T c.(55-57)atC>atT p.I19I SYT10_ENST00000535526.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 19 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GCTCGGTGACGATGTGCAGAG 0.572000 47 170 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126240611 126240611 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:126240611C>T ENST00000394329.3 + 1 3058 c.3045C>T c.(3043-3045)ttC>ttT p.F1015F NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1015 Cadherin 10. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.F1015F(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATTCTCGATTCTTTAAAGTAC 0.393000 29 77 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 56000536 56000536 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:56000536C>T ENST00000313264.4 - 1 201 c.126G>A c.(124-126)atG>atA p.M42I NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) TGACATTCTTCATGTTGAAAT 0.358000 14 37 0 0 1 0 0 LAYN 143903 broad.mit.edu 37 11 111414666 111414666 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:111414666G>A ENST00000375614.2 + 2 440 c.104G>A c.(103-105)gGa>gAa p.G35E LAYN_ENST00000533265.1_Missense_Mutation_p.G35E|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000375615.3_Missense_Mutation_p.G43E|LAYN_ENST00000525126.1_Missense_Mutation_p.G43E|LAYN_ENST00000436913.2_5'UTR NM_178834.4 NP_849156.1 Q6UX15 LAYN_HUMAN layilin 43 cell surface|integral to membrane|ruffle hyaluronic acid binding|sugar binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1) 14 all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086) Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476) GTCTGCCGGGGAGGGACACAG 0.493000 17 36 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11117571 11117571 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:11117571G>A ENST00000304623.8 - 13 2457 c.2268C>T c.(2266-2268)atC>atT p.I756I CTNND2_ENST00000503622.1_Silent_p.I419I|CTNND2_ENST00000458100.2_Silent_p.I323I|CTNND2_ENST00000359640.2_Silent_p.I756I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.I665I NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 756 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.I756I(4) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CCTTGCTATCGATCTCACTGC 0.527000 31 84 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89401968 89401968 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:89401968C>T ENST00000439576.2 + 12 6526 c.6152C>T c.(6151-6153)tCt>tTt p.S2051F ACAN_ENST00000559004.1_Missense_Mutation_p.S2051F|ACAN_ENST00000352105.7_Missense_Mutation_p.S2051F|ACAN_ENST00000561243.1_Missense_Mutation_p.S2051F NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2051 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CCAACTATTTCTCAGGAACTA 0.517000 7 26 0 0 1 0 0 SGCZ 137868 broad.mit.edu 37 8 13959930 13959930 + Silent SNP C C T rs142136870 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:13959930C>T ENST00000382080.1 - 7 1414 c.699G>A c.(697-699)aaG>aaA p.K233K SGCZ_ENST00000421524.2_Silent_p.K186K NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 220 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) TGCAGGTGGCCTTGAAGTCTC 0.522000 16 24 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42476338 42476338 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:42476338G>A ENST00000434000.1 - 9 3155 c.2873C>T c.(2872-2874)cCc>cTc p.P958L GPATCH8_ENST00000591680.1_Missense_Mutation_p.P1036L Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1036 Ser-rich. intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GAAATAGTGGGGGGACTGGGA 0.557000 15 55 0 0 1 0 0 IPO4 79711 broad.mit.edu 37 14 24655658 24655658 + Splice_Site SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:24655658C>T ENST00000561419.1 - 11 1898 c.e11-1 IPO4_ENST00000354464.6_Splice_Site TCAGTAAGGCCTTGACAGAGA 0.542000 29 88 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122618232 122618232 + Silent SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:122618232T>C ENST00000263461.6 + 3 522 c.276T>C c.(274-276)aaT>aaC p.N92N NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 92 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 CTGATGTCAATGGGAAGATCA 0.468000 12 27 0 0 1 0 0 NEXN 91624 broad.mit.edu 37 1 78399088 78399088 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:78399088G>A ENST00000330010.8 + 9 1280 c.983G>A c.(982-984)cGa>cAa p.R328Q NEXN_ENST00000480732.1_3'UTR|NEXN_ENST00000457030.1_Missense_Mutation_p.R378Q|NEXN_ENST00000334785.7_Missense_Mutation_p.R392Q NM_001172309.1 NP_001165780.1 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 392 Glu-rich. K -> E (in Ref. 2; AAI14446). regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Colorectal(170;0.114) GAAAAACGACGAACAGAGGAG 0.328000 7 17 0 0 1 0 0 ZNF200 7752 broad.mit.edu 37 16 3274321 3274321 + Silent SNP A A C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:3274321A>C ENST00000431561.3 - 5 1371 c.759T>G c.(757-759)acT>acG p.T253T AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396871.4_Silent_p.T252T|ZNF200_ENST00000396868.3_Silent_p.T252T|ZNF200_ENST00000414144.2_Silent_p.T253T|ZNF200_ENST00000396870.4_Silent_p.T252T|ZNF200_ENST00000575948.1_Silent_p.T252T NM_001145447.1|NM_003454.3 NP_001138919.1|NP_003445.2 P98182 ZN200_HUMAN zinc finger protein 200 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 17 ACAGTGGACAAGTGTACCATC 0.423000 21 64 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36182056 36182056 + Missense_Mutation SNP C C G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:36182056C>G ENST00000357641.6 + 8 3135 c.2882C>G c.(2881-2883)gCc>gGc p.A961G BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.A961G|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000543502.1_Intron NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 961 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 GGCTCTCCTGCCTCTCCAGCC 0.607000 14 81 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50089776 50089776 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:50089776C>T ENST00000376042.1 + 10 4078 c.3780C>T c.(3778-3780)atC>atT p.I1260I CCNB3_ENST00000376038.1_Silent_p.I156I|CCNB3_ENST00000276014.7_Silent_p.I1260I|CCNB3_ENST00000348603.2_Silent_p.I156I Q8WWL7 CCNB3_HUMAN cyclin B3 1260 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) ACATTCCCATCGCCTACCATT 0.433000 18 10 0 0 1 0 0 DNAH14 127602 broad.mit.edu 37 1 225155151 225155151 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:225155151G>A ENST00000430092.1 + 6 732 c.517G>A c.(517-519)Gga>Aga p.G173R DNAH14_ENST00000366849.1_Missense_Mutation_p.G173R|DNAH14_ENST00000366848.1_Missense_Mutation_p.G173R|DNAH14_ENST00000400952.3_Missense_Mutation_p.G173R|DNAH14_ENST00000439375.2_Missense_Mutation_p.G173R|DNAH14_ENST00000366850.3_Missense_Mutation_p.G173R NM_001373.1 NP_001364.1 Q0VDD8 DYH14_HUMAN dynein, axonemal, heavy chain 14 300 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1) 27 GGAAGATGATGGAGAATTTGT 0.299000 60 108 0 0 1 0 0 CYP7B1 9420 broad.mit.edu 37 8 65537058 65537058 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:65537058G>A ENST00000310193.3 - 2 334 c.161C>T c.(160-162)cCt>cTt p.P54L NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 54 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) TCCAAGATAAGGAAGCCAACC 0.373000 35 82 0 0 1 0 0 TSC1 7248 broad.mit.edu 37 9 135776203 135776203 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:135776203G>A ENST00000298552.3 - 20 2745 c.2524C>T c.(2524-2526)Cag>Tag p.Q842* TSC1_ENST00000545250.1_Nonsense_Mutation_p.Q791*|TSC1_ENST00000440111.2_Nonsense_Mutation_p.Q842* NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 842 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) ATCTGCTGCTGGACCGACTCA 0.448000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 13 86 0 0 1 0 0 BPIFB2 80341 broad.mit.edu 37 20 31598888 31598888 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:31598888C>T ENST00000170150.3 + 3 363 c.168C>T c.(166-168)ttC>ttT p.F56F NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 56 extracellular region lipid binding TCCCTCATTTCCTGGACTGGA 0.622000 23 101 0 0 1 0 0 UGT1A3 54659 broad.mit.edu 37 2 234638020 234638020 + Missense_Mutation SNP C C T rs143192251 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:234638020C>T ENST00000482026.1 + 1 267 c.248C>T c.(247-249)tCg>tTg p.S83L UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) TATGCCATTTCGTGGACCCAG 0.468000 28 105 0 0 1 0 0 KRT15 3866 broad.mit.edu 37 17 39674840 39674840 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:39674840G>A ENST00000254043.3 - 1 3825 c.240C>T c.(238-240)ggC>ggT p.G80G KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Silent_p.G80G NM_002275.3 NP_002266.2 P19012 K1C15_HUMAN keratin 15 80 Gly-rich.|Head. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) cccctccaaagcctccaccga 0.557000 35 114 0 0 1 0 0 XAF1 54739 broad.mit.edu 37 17 6674145 6674145 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:6674145G>A ENST00000361842.3 + 6 930 c.691G>A c.(691-693)Gca>Aca p.A231T XAF1_ENST00000346752.4_Missense_Mutation_p.A212T|XAF1_ENST00000441631.1_Missense_Mutation_p.A231T NM_017523.3 NP_059993.2 Q6GPH4 XAF1_HUMAN XIAP associated factor 1 231 apoptosis|type I interferon-mediated signaling pathway mitochondrion|nucleus zinc ion binding large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 6 ATCAAAGAAAGCACCAAGAAG 0.423000 12 52 0 0 1 0 0 RETSAT 54884 broad.mit.edu 37 2 85571211 85571211 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:85571211G>A ENST00000295802.4 - 9 1556 c.1444C>T c.(1444-1446)Cgg>Tgg p.R482W RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000457495.2_Missense_Mutation_p.R421W|RETSAT_ENST00000263854.6_Intron NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 482 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) TCACTGCCCCGCTTTCCCTTC 0.542000 15 59 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103040381 103040381 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:103040381C>T ENST00000264260.2 + 4 770 c.181C>T c.(181-183)Cga>Tga p.R61* IL18RAP_ENST00000409369.1_Intron NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 61 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity p.R61*(1) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CCACAGAAATCGACTCTCACC 0.418000 6 31 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13793828 13793828 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:13793828C>T ENST00000265104.4 - 49 8124 c.8020G>A c.(8020-8022)Gag>Aag p.E2674K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2674 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CGCACTATCTCATTCGTAACC 0.423000 Kartagener syndrome 9 64 0 0 1 0 0 OR7E24 26648 broad.mit.edu 37 19 9361804 9361804 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:9361804G>A ENST00000456448.1 + 1 199 c.85G>A c.(85-87)Gaa>Aaa p.E29K NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 AGGTGTCTCAGAATTCCTCCT 0.502000 6 34 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15789169 15789169 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:15789169C>T ENST00000550308.1 + 3 677 c.297C>T c.(295-297)atC>atT p.I99I CYP4F12_ENST00000324632.9_Silent_p.I99I NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 p.I99I(1) NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) TCCCCTTCATCGTTTTATGCC 0.547000 36 124 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31918096 31918096 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:31918096G>A ENST00000556679.1 + 24 3101 c.3046G>A c.(3046-3048)Gct>Act p.A1016T CFB_ENST00000425368.2_Missense_Mutation_p.A514T|CFB_ENST00000477310.1_Missense_Mutation_p.A865T|CFB_ENST00000456570.1_Missense_Mutation_p.A1016T P00751 CFAB_HUMAN complement factor B 514 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CTGTATGGGGGCTGTGGTGTC 0.488000 32 38 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75799830 75799830 + Silent SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:75799830T>C ENST00000322507.8 - 63 9246 c.8937A>G c.(8935-8937)gaA>gaG p.E2979E COL12A1_ENST00000483888.2_Silent_p.E2975E|COL12A1_ENST00000416123.2_Silent_p.E2903E|COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000345356.6_Silent_p.E1815E NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2979 Triple-helical region (COL1) with 2 imperfections. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GCCTACCTCGTTCCCCAGGGG 0.592000 33 94 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219561836 219561836 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:219561836G>A ENST00000295709.3 + 23 2940 c.2661G>A c.(2659-2661)atG>atA p.M887I STK36_ENST00000440309.1_Missense_Mutation_p.M887I|STK36_ENST00000392106.2_Missense_Mutation_p.M866I|STK36_ENST00000392105.3_Missense_Mutation_p.M866I NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 887 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GCTTCTCCATGGTCCTGAGGC 0.557000 44 160 0 0 1 0 0 IGKV3-20 28912 broad.mit.edu 37 2 89442297 89442297 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:89442297C>T ENST00000492167.1 - 0 159 TGGCTCTTTCCCCTGGAGACA 0.522000 17 84 0 0 1 0 0 CEACAM21 90273 broad.mit.edu 37 19 42083671 42083671 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:42083671C>T ENST00000187608.9 + 2 224 c.184C>T c.(184-186)Ctt>Ttt p.L62F CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000401445.2_Missense_Mutation_p.L62F NM_001098506.1|NM_033543.3 NP_001091976.1|NP_291021.2 Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion molecule 21 62 integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 GCCCGAGAATCTTTACAGCTA 0.502000 6 43 0 0 1 0 0 HSD11B1 3290 broad.mit.edu 37 1 209880365 209880365 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:209880365C>T ENST00000367028.2 + 5 578 c.409C>T c.(409-411)Cgc>Tgc p.R137C HSD11B1_ENST00000367027.3_Missense_Mutation_p.R137C|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Missense_Mutation_p.R137C NM_001206741.1 NP_001193670.1 P28845 DHI1_HUMAN hydroxysteroid (11-beta) dehydrogenase 1 137 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 16 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) TCACCATGTGCGCAAAAGCAT 0.453000 19 146 0 0 1 0 0 ZNF490 57474 broad.mit.edu 37 19 12721462 12721462 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:12721462C>T ENST00000311437.6 - 1 155 c.33G>A c.(31-33)atG>atA p.M11I ZNF490_ENST00000465656.1_Intron NM_020714.2 NP_065765.1 Q9ULM2 ZN490_HUMAN zinc finger protein 490 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 18 GGGGTCGCTCCATCTGGAAAC 0.582000 14 53 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140187123 140187123 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140187123C>T ENST00000530339.1 + 1 351 c.351C>T c.(349-351)ttC>ttT p.F117F PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.F117F|PCDHA4_ENST00000356878.4_Silent_p.F117F|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGGTTTTCCATGTGGACG 0.587000 30 117 0 0 1 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15882950 15882950 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:15882950C>T ENST00000587443.2 - 0 727 NR_033864.1 CCTCTGAGGCCAGGTGCTGCC 0.562000 12 58 0 0 1 0 0 PSMC6 5706 broad.mit.edu 37 14 53185031 53185031 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:53185031C>T ENST00000445930.2 + 9 724 c.718C>T c.(718-720)Caa>Taa p.Q240* PSMC6_ENST00000606149.1_Nonsense_Mutation_p.Q226* P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 226 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) TAGAGATCATCAACCATGCAT 0.303000 7 48 0 0 1 0 0 SH2D1A 4068 broad.mit.edu 37 X 123504073 123504073 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:123504073C>T ENST00000371139.4 + 3 548 c.249C>T c.(247-249)ctC>ctT p.L83L SH2D1A_ENST00000470647.1_3'UTR|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000360027.4_Silent_p.L83L NM_001114937.2|NM_002351.4 NP_001108409.1|NP_002342.1 O60880 SH21A_HUMAN SH2 domain containing 1A 83 SH2. cell-cell signaling|cellular defense response cytoplasm SH3/SH2 adaptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 TAAAAAATCTCATTTCAGCAT 0.368000 26 38 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121720627 121720627 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:121720627C>T ENST00000273691.3 - 4 569 c.464G>A c.(463-465)gGa>gAa p.G155E ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.G155E|ILDR1_ENST00000462014.1_Missense_Mutation_p.G167E NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 155 Ig-like V-type. cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) ATCGGGGTCTCCTGATGTGTC 0.483000 29 81 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179433100 179433100 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:179433100C>T ENST00000589042.1 - 326 77983 c.77759G>A c.(77758-77760)gGc>gAc p.G25920D TTN_ENST00000342175.6_Missense_Mutation_p.G17047D|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23352D|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16980D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G24279D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16855D|TTN-AS1_ENST00000586707.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24279 Fibronectin type-III 88. 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) GATTTGGCAGCCCCCTGTATA 0.408000 9 29 0 0 1 0 0 CYP19A1 1588 broad.mit.edu 37 15 51504567 51504567 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:51504567C>T ENST00000396402.1 - 9 1366 c.1213G>A c.(1213-1215)Gag>Aag p.E405K CYP19A1_ENST00000559878.1_Missense_Mutation_p.E405K|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Missense_Mutation_p.E405K|CYP19A1_ENST00000260433.2_Missense_Mutation_p.E405K NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 405 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) GGGAAAAACTCGAGTCTGTGC 0.403000 15 81 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203619 140203619 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140203619G>A ENST00000529859.1 + 1 2259 c.2259G>A c.(2257-2259)agG>agA p.R753R PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.R753R|PCDHA5_ENST00000378126.3_Silent_p.R753R|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCAGCAGAGGAGACAGAGGG 0.632000 8 38 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092892 30092892 + RNA SNP A A T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr18:30092892A>T ENST00000567636.1 + 0 1267 NR_003558.1 CTAAAGCAGAAAAACAATCAC 0.468000 4 25 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41648069 41648069 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr21:41648069C>T ENST00000400454.1 - 11 2788 c.2311G>A c.(2311-2313)Gat>Aat p.D771N NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 771 Ig-like C2-type 8. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GCGCCCACATCGTTGCTGACC 0.483000 18 48 0 0 1 0 0 PATL1 219988 broad.mit.edu 37 11 59420337 59420337 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:59420337G>A ENST00000300146.9 - 10 1360 c.1276C>T c.(1276-1278)Ccc>Tcc p.P426S NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 426 Region H. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 TCCAGGTAGGGATCAGTGCTT 0.408000 9 32 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25532221 25532221 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr18:25532221G>A ENST00000269141.3 - 16 3040 c.2617C>T c.(2617-2619)Ctt>Ttt p.L873F CDH2_ENST00000399380.3_Missense_Mutation_p.L842F NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 873 Ser-rich. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GAGGAATTAAGGGAGCTCAAG 0.512000 OREG0003876 type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 25 88 0 0 1 0 0 LBR 3930 broad.mit.edu 37 1 225609969 225609969 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:225609969G>A ENST00000338179.2 - 3 301 c.176C>T c.(175-177)tCc>tTc p.S59F LBR_ENST00000272163.4_Missense_Mutation_p.S59F NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 59 Nucleoplasmic (Potential). cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) TTGCCTAAAGGAAGTTAAAGG 0.498000 4 43 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34192733 34192733 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:34192733G>A ENST00000297161.2 + 16 2280 c.1906G>A c.(1906-1908)Gat>Aat p.D636N BMPER_ENST00000426693.1_Missense_Mutation_p.D636N NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 636 TIL. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 TGCTGTGTACGATACCTGTGG 0.507000 50 170 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109794937 109794937 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:109794937C>T ENST00000271332.3 + 1 2297 c.2236C>T c.(2236-2238)Cgc>Tgc p.R746C NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 746 Cadherin 6. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TGAGAATGCCCGCATCACCTA 0.582000 6 31 0 0 1 0 0 CAMK2G 818 broad.mit.edu 37 10 75634154 75634154 + Splice_Site SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:75634154C>T ENST00000423381.1 - 1 189 c.e1+1 CAMK2G_ENST00000394762.2_Splice_Site|CAMK2G_ENST00000322635.3_Splice_Site|CAMK2G_ENST00000444854.2_Splice_Site|CAMK2G_ENST00000372765.1_Splice_Site|CAMK2G_ENST00000322680.3_Splice_Site|CAMK2G_ENST00000305762.7_Splice_Site|CAMK2G_ENST00000351293.3_Splice_Site|CAMK2G_ENST00000472912.1_Splice_Site NM_001204492.1 NP_001191421.1 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II gamma insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 15 Prostate(51;0.0112) GCGGGCCGTACTTGCCAAGCT 0.771000 7 21 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17038955 17038955 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:17038955G>A ENST00000443236.1 - 25 3406 c.3375C>T c.(3373-3375)tcC>tcT p.S1125S NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1078 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CCCAGCCGGTGGAAAAGCCAA 0.597000 17 76 0 0 1 0 0 KIF9 64147 broad.mit.edu 37 3 47289519 47289519 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:47289519G>A ENST00000335044.2 - 11 1474 c.1117C>T c.(1117-1119)Cat>Tat p.H373Y KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Missense_Mutation_p.H373Y|KIF9_ENST00000444589.2_Missense_Mutation_p.H373Y|KIF9_ENST00000352910.4_Missense_Mutation_p.H280Y|KIF9_ENST00000452770.2_Missense_Mutation_p.H373Y NM_001134878.1|NM_182902.3 NP_001128350.1|NP_878905.2 Q9HAQ2 KIF9_HUMAN kinesin family member 9 373 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) AGGCTGTCATGGATAGCCAGC 0.577000 33 193 0 0 1 0 0 PRTFDC1 56952 broad.mit.edu 37 10 25197464 25197464 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:25197464G>A ENST00000376376.3 - 4 506 c.490C>T c.(490-492)Cgg>Tgg p.R164W RN7SKP241_ENST00000464584.2_RNA|PRTFDC1_ENST00000376378.1_Intron|PRTFDC1_ENST00000320152.6_Intron Q9NRG1 PRDC1_HUMAN phosphoribosyl transferase domain containing 1 0 adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development cytosol hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 9 AACTGAAACCGGATGTGGAAA 0.498000 17 65 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20480968 20480968 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:20480968C>T ENST00000573854.1 + 4 637 c.523C>T c.(523-525)Cct>Tct p.P175S ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.P96S|ACSM2A_ENST00000424070.1_Missense_Mutation_p.P175S|ACSM2A_ENST00000575690.1_Missense_Mutation_p.P175S|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000219054.6_Missense_Mutation_p.P175S|ACSM2A_ENST00000396104.2_Missense_Mutation_p.P175S NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 175 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 ATCTGAATGTCCTTCTCTGAG 0.453000 44 143 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6206387 6206387 + Missense_Mutation SNP C C T rs150733401 byFrequency TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:6206387C>T ENST00000262450.3 - 11 1786 c.1687G>A c.(1687-1689)Ggc>Agc p.G563S CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 563 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TCGCTCTTGCCGTCTTCATCC 0.547000 13 48 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117245849 117245849 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:117245849C>T ENST00000332958.2 + 15 1589 c.1573C>T c.(1573-1575)Cga>Tga p.R525* NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 525 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding p.R525*(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TCATTTGATTCGAATGCTTCT 0.388000 16 39 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204394141 204394141 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:204394141C>T ENST00000367187.3 - 34 5300 c.4744G>A c.(4744-4746)Gac>Aac p.D1582N RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.D1554N NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 1582 C2. 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 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) TGCTGCAGGTCACCCTTGGGG 0.572000 5 48 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654205 46654205 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:46654205C>T ENST00000253255.5 - 1 5014 c.5015G>A c.(5014-5016)aGg>aAg p.R1672K NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1672 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GTCATGTATCCTCTGCATTTC 0.403000 50 51 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32137634 32137634 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:32137634C>T ENST00000312561.4 + 4 4159 c.3745C>T c.(3745-3747)Cct>Tct p.P1249S KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 AAGTCATTTTCCTGAACTACA 0.363000 8 51 0 0 1 0 0 FBF1 85302 broad.mit.edu 37 17 73916502 73916502 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:73916502G>A ENST00000586717.1 - 17 1914 c.1641C>T c.(1639-1641)ctC>ctT p.L547L FBF1_ENST00000389570.4_Silent_p.L547L|FBF1_ENST00000319129.5_Silent_p.L546L A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 546 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 GGGACTCTGGGAGCAGGGGCT 0.632000 10 10 0 0 1 0 0 RFWD3 55159 broad.mit.edu 37 16 74670390 74670390 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:74670390G>A ENST00000361070.4 - 8 1377 c.1280C>T c.(1279-1281)tCc>tTc p.S427F RFWD3_ENST00000571750.1_Missense_Mutation_p.S427F NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 427 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 GCCCTGGCTGGAGGGTGAGCA 0.498000 11 32 0 0 1 0 0 SAFB2 9667 broad.mit.edu 37 19 5610021 5610021 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:5610021G>A ENST00000252542.4 - 9 1545 c.1281C>T c.(1279-1281)ttC>ttT p.F427F SAFB2_ENST00000591310.1_5'UTR NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 427 RRM. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) CATACTTGCTGAAAAGGTTCT 0.552000 8 25 0 0 1 0 0 FGFR1 2260 broad.mit.edu 37 8 38271320 38271320 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:38271320C>T ENST00000341462.5 - 18 3236 c.2295G>A c.(2293-2295)gaG>gaA p.E765E FGFR1_ENST00000356207.5_Silent_p.E676E|FGFR1_ENST00000335922.5_Silent_p.E755E|FGFR1_ENST00000326324.6_Silent_p.E674E|FGFR1_ENST00000397091.5_Silent_p.E763E|FGFR1_ENST00000397113.2_Silent_p.E763E|FGFR1_ENST00000532791.1_Silent_p.E763E|FGFR1_ENST00000447712.2_Silent_p.E765E|FGFR1_ENST00000397108.4_Silent_p.E763E|FGFR1_ENST00000397103.1_Silent_p.E676E|FGFR1_ENST00000425967.3_Silent_p.E796E P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 765 Protein kinase. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) GGTCCAGGTACTCCTGTGATG 0.657000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 5 42 0 0 1 0 0 PHF13 148479 broad.mit.edu 37 1 6680248 6680248 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:6680248C>T ENST00000377648.4 + 3 909 c.527C>T c.(526-528)cCc>cTc p.P176L PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 176 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) TCCGATACTCCCTCGAGTGGA 0.587000 7 29 0 0 1 0 0 ACAD9 28976 broad.mit.edu 37 3 128628208 128628208 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:128628208G>A ENST00000308982.7 + 15 1588 c.1507G>A c.(1507-1509)Gag>Aag p.E503K ACAD9_ENST00000511526.1_3'UTR NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 503 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 CAAGTTTGAGGAGAACACCTA 0.587000 14 77 0 0 1 0 0 UBL7 84993 broad.mit.edu 37 15 74741550 74741550 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:74741550G>A ENST00000567435.1 - 9 1322 c.859C>T c.(859-861)Cac>Tac p.H287Y UBL7_ENST00000565335.1_Missense_Mutation_p.H287Y|UBL7_ENST00000564488.1_Missense_Mutation_p.H287Y|UBL7_ENST00000361351.4_Missense_Mutation_p.H287Y|UBL7_ENST00000395081.2_Missense_Mutation_p.H287Y Q96S82 UBL7_HUMAN ubiquitin-like 7 (bone marrow stromal cell-derived) 287 protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 GTCGGTGTGTGAGAGCTGCTC 0.647000 8 56 0 0 1 0 0 MTFR1L 56181 broad.mit.edu 37 1 26158412 26158412 + Splice_Site SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:26158412G>A ENST00000374301.3 + 7 1082 c.773_splice c.e7-1 p.L258_splice MTFR1L_ENST00000474295.1_3'UTR|MTFR1L_ENST00000374300.3_Splice_Site_p.L258_splice|MTFR1L_ENST00000524618.1_Splice_Site_p.L161_splice|MTFR1L_ENST00000466284.1_3'UTR|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000374307.5_Splice_Site_p.L246_splice|RP1-317E23.7_ENST00000606617.1_RNA|MTFR1L_ENST00000374303.2_Splice_Site_p.L258_splice NM_019557.5 NP_062457.3 mitochondrial fission regulator 1-like GTGTCTCTAGGAACCGGAGTT 0.393000 23 134 0 0 1 0 0 SOCS5 9655 broad.mit.edu 37 2 46987054 46987054 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:46987054C>T ENST00000306503.5 + 2 1557 c.1385C>T c.(1384-1386)cCc>cTc p.P462L SOCS5_ENST00000394861.2_Missense_Mutation_p.P462L NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 462 SH2. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) TATAAAGATCCCAGTTCGTGC 0.433000 16 84 0 0 1 0 0 OSR1 130497 broad.mit.edu 37 2 19552122 19552122 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:19552122C>T ENST00000536433.1 - 2 3825 c.715G>A c.(715-717)Gga>Aga p.G239R OSR1_ENST00000272223.2_Missense_Mutation_p.G239R Q8TAX0 OSR1_HUMAN odd-skipped related transciption factor 1 239 chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding breast(1)|large_intestine(2)|lung(4)|ovary(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) TGGCAGAATCCTTTCCCACAC 0.453000 19 85 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53073941 53073941 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:53073941G>A ENST00000276480.7 - 14 2271 c.1588C>T c.(1588-1590)Cct>Tct p.P530S NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 530 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TTACATTCAGGAAATGGTGGT 0.433000 36 81 0 0 1 0 0 TERF2 7014 broad.mit.edu 37 16 69404473 69404473 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:69404473G>A ENST00000254942.3 - 5 769 c.753C>T c.(751-753)atC>atT p.I251I TERF2_ENST00000567296.2_Silent_p.I251I|TERF2_ENST00000603068.1_Silent_p.I209I|TERF2_ENST00000569611.2_5'UTR NM_005652.3 NP_005643.2 Q15554 TERF2_HUMAN telomeric repeat binding factor 2 209 age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation Golgi apparatus|nuclear telomere cap complex|nucleoplasm double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity NS(2)|breast(1)|large_intestine(3)|lung(1) 7 Ovarian(137;0.101) AAAAGTTCTGGATAACAGGAT 0.488000 16 46 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71005895 71005895 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:71005895G>A ENST00000354624.5 + 8 1069 c.936G>A c.(934-936)aaG>aaA p.K312K HKDC1_ENST00000395086.2_Silent_p.K312K NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 312 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 TCTTGCTGAAGATGGCCAAGG 0.542000 28 71 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47944602 47944602 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:47944602C>T ENST00000236877.6 - 5 2254 c.1859G>A c.(1858-1860)gGg>gAg p.G620E SLC8A2_ENST00000542837.1_Missense_Mutation_p.G376E|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_Missense_Mutation_p.G83E NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 620 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) ACCTGAAATCCCTCGCTTAAG 0.517000 10 31 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173506150 173506150 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:173506150C>T ENST00000367714.3 - 14 2008 c.1586G>A c.(1585-1587)gGa>gAa p.G529E SLC9C2_ENST00000536496.1_Missense_Mutation_p.G427E|SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 529 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TTCAAGAATTCCATTGTTACG 0.313000 25 158 0 0 1 0 0 FAM105B 90268 broad.mit.edu 37 5 14681702 14681702 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:14681702C>T ENST00000284274.4 + 4 532 c.454C>T c.(454-456)Ccg>Tcg p.P152S NM_138348.4 NP_612357.4 Q96BN8 F105B_HUMAN family with sequence similarity 105, member B 152 breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 14 Lung NSC(4;0.00696) GCTGCAGGACCCGGAGCTCAT 0.542000 5 26 0 0 1 0 0 ZNF483 158399 broad.mit.edu 37 9 114293157 114293157 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:114293157C>T ENST00000309235.5 + 3 573 c.415C>T c.(415-417)Cca>Tca p.P139S ZNF483_ENST00000355824.3_Missense_Mutation_p.P139S|ZNF483_ENST00000358151.4_Missense_Mutation_p.P139S NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 139 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 TTTCCTAGATCCAGTCTCTCA 0.338000 31 35 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108496545 108496545 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:108496545C>T ENST00000408999.3 + 21 5123 c.5046C>T c.(5044-5046)gtC>gtT p.V1682V RGPD4_ENST00000354986.4_Silent_p.V1682V NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1682 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 CCAGTGCAGTCCTTATGGAGC 0.438000 35 142 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160104985 160104985 + Missense_Mutation SNP C C T rs145701604 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:160104985C>T ENST00000361216.3 + 15 2104 c.2015C>T c.(2014-2016)tCg>tTg p.S672L ATP1A2_ENST00000392233.3_Missense_Mutation_p.S672L|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 672 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) GACATGACATCGGAGCAGCTC 0.577000 75 56 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55549782 55549782 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:55549782C>T ENST00000436346.1 - 18 3885 c.3044G>A c.(3043-3045)aGg>aAg p.R1015K AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.R1014K|CCDC88A_ENST00000336838.6_Missense_Mutation_p.R1014K|CCDC88A_ENST00000263630.8_Missense_Mutation_p.R1015K|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1015 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 CTGTACCATCCTTTCCTCATC 0.343000 15 52 0 0 1 0 0 SLC17A6 57084 broad.mit.edu 37 11 22397561 22397561 + Missense_Mutation SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:22397561T>C ENST00000263160.3 + 10 1645 c.1208T>C c.(1207-1209)gTt>gCt p.V403A NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 403 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 CTCCTGGTCGTTGGCTATTCT 0.378000 28 98 0 0 1 0 0 COL8A1 1295 broad.mit.edu 37 3 99513111 99513111 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:99513111C>T ENST00000261037.3 + 5 746 c.366C>T c.(364-366)ccC>ccT p.P122P COL8A1_ENST00000273342.4_Silent_p.P122P NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 122 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 AACAAGGTCCCCGTGGAGAGC 0.532000 4 33 0 0 1 0 0 ZNF792 126375 broad.mit.edu 37 19 35449303 35449303 + Silent SNP A A G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:35449303A>G ENST00000404801.1 - 4 1842 c.1456T>C c.(1456-1458)Tta>Cta p.L486L ZNF792_ENST00000605484.1_Silent_p.L419L NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 486 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TGGCTAAATAACTTCCCACAT 0.493000 16 54 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69682129 69682129 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:69682129C>T ENST00000265403.7 + 1 419 c.392C>T c.(391-393)tCa>tTa p.S131L UGT2B10_ENST00000458688.2_Missense_Mutation_p.S131L NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 131 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 GATGTAGTTTCAAATAAGAAA 0.328000 12 51 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79326149 79326149 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:79326149G>A ENST00000376718.3 - 8 1164 c.1041C>T c.(1039-1041)ctC>ctT p.L347L PRUNE2_ENST00000428286.1_5'UTR NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 347 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CCTTGACAACGAGAACCACCT 0.547000 17 24 0 0 1 0 0 TRBV7-3 28595 broad.mit.edu 37 7 142247152 142247152 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:142247152C>T ENST00000390361.3 - 0 353 TCCCCCCGCTCTGTGCGCTGG 0.577000 12 45 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453137 140453137 + Missense_Mutation SNP C C T rs121913227 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:140453137C>T ENST00000288602.6 - 15 1858 c.1798G>A c.(1798-1800)Gtg>Atg p.V600M NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CGAGATTTCACTGTAGCTAGA 0.363000 V600M(IGR1_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 66 51 0 0 1 0 0 ANKRD26 22852 broad.mit.edu 37 10 27366311 27366311 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:27366311G>A ENST00000376087.4 - 9 1198 c.1033C>T c.(1033-1035)Cca>Tca p.P345S ANKRD26_ENST00000466890.1_5'UTR|ANKRD26_ENST00000436985.2_Missense_Mutation_p.P394S NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 345 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 GAAGGTTTTGGAAGAAGGTCA 0.413000 45 106 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156816430 156816430 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:156816430G>A ENST00000368195.3 - 8 2087 c.1691C>T c.(1690-1692)tCc>tTc p.S564F NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 564 Fibronectin type-III 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGGCTTGAGGGAGGCTAGGGT 0.612000 11 105 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123095385 123095385 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:123095385C>T ENST00000333479.7 + 53 5737 c.5560C>T c.(5560-5562)Ctg>Ttg p.L1854L KNTC1_ENST00000537348.1_Silent_p.L279L|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Silent_p.L779L NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1854 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) GTATCTCCTCCTGTCTCGTCC 0.333000 6 22 0 0 1 0 0 SPRR2G 6706 broad.mit.edu 37 1 153122541 153122541 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:153122541G>A ENST00000368748.4 - 2 84 c.46C>T c.(46-48)Cct>Tct p.P16S NM_001014291.3 NP_001014313.1 Q9BYE4 SPR2G_HUMAN small proline-rich protein 2G 16 keratinization cornified envelope|cytoplasm endometrium(1)|lung(1)|skin(1) 3 all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGGCACACAGGAGGTGGCTGG 0.572000 25 176 0 0 1 0 0 SULT1E1 6783 broad.mit.edu 37 4 70721061 70721061 + Nonsense_Mutation SNP G G A rs143726522 byFrequency TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:70721061G>A ENST00000226444.3 - 3 341 c.229C>T c.(229-231)Cga>Tga p.R77* NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 77 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity p.R77*(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 AAAGGTATTCGATTAAAAATT 0.308000 4 31 0 0 1 0 0 IFNA14 3448 broad.mit.edu 37 9 21239366 21239366 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:21239366C>T ENST00000380222.2 - 1 612 c.569G>A c.(568-570)tGa>tAa p.*190* NM_002172.2 NP_002163.2 P01570 IFN14_HUMAN interferon, alpha 14 0 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 breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7) 11 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) AACCAGTTTTCAATCCTTCCT 0.388000 38 107 0 0 1 0 0 CCM2L 140706 broad.mit.edu 37 20 30602799 30602799 + Silent SNP G G A rs145192423 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:30602799G>A ENST00000300415.8 + 2 136 c.123G>A c.(121-123)tcG>tcA p.S41S CCM2L_ENST00000262659.8_Silent_p.S41S cerebral cavernous malformation 2-like CCCTGCACTCGATGCCCCTTT 0.642000 29 128 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120977966 120977966 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:120977966G>A ENST00000273666.6 + 18 2180 c.1909G>A c.(1909-1911)Gaa>Aaa p.E637K STXBP5L_ENST00000492541.1_Missense_Mutation_p.E637K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E637K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E637K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.E637K NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 637 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GGTAGATGGTGAACCTCCACA 0.358000 11 32 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57864713 57864713 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:57864713G>A ENST00000228682.2 + 12 2281 c.2190G>A c.(2188-2190)ctG>ctA p.L730L GLI1_ENST00000546141.1_Silent_p.L689L|GLI1_ENST00000543426.1_Silent_p.L602L NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 730 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CTGATACTCTGGGATATGGGG 0.592000 24 106 0 0 1 0 0 ACMSD 130013 broad.mit.edu 37 2 135625235 135625235 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:135625235G>A ENST00000356140.5 + 6 709 c.573G>A c.(571-573)tgG>tgA p.W191* AC016725.4_ENST00000428857.1_RNA|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Nonsense_Mutation_p.W133*|ACMSD_ENST00000283054.4_Nonsense_Mutation_p.W133*|AC016725.4_ENST00000413962.1_RNA|AC016725.4_ENST00000537615.1_RNA NM_138326.2 NP_612199.2 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 191 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) GGCTCCCTTGGCTTGTAGGTT 0.478000 26 81 0 0 1 0 0 IFNA16 3449 broad.mit.edu 37 9 21216974 21216974 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:21216974C>T ENST00000380216.1 - 1 336 c.331G>A c.(331-333)Gaa>Aaa p.E111K NM_002173.2 NP_002164.1 P05015 IFN16_HUMAN interferon, alpha 16 111 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) TGGAAAAGTTCAATGTAGAAT 0.488000 33 76 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149520464 149520464 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:149520464G>A ENST00000378016.2 + 0 13282 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCCTCCCTTTGAGTTCCATGC 0.652000 18 161 0 0 1 0 0 RNASEL 6041 broad.mit.edu 37 1 182555609 182555609 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:182555609G>A ENST00000367559.3 - 2 586 c.333C>T c.(331-333)ttC>ttT p.F111F RNASEL_ENST00000539397.1_Silent_p.F111F|RNASEL_ENST00000444138.1_Silent_p.F111F NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 111 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 CTTTAGAAAGGAAAAGTTTCA 0.483000 31 28 0 0 1 0 0 SLC25A21 89874 broad.mit.edu 37 14 37194854 37194854 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:37194854C>T ENST00000331299.5 - 6 874 c.359G>A c.(358-360)gGa>gAa p.G120E SLC25A21_ENST00000555449.1_Missense_Mutation_p.G120E NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 120 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) TTCTGTTAGTCCAGATCCCAA 0.348000 13 55 0 0 1 0 0 CYP4X1 260293 broad.mit.edu 37 1 47505081 47505081 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:47505081G>A ENST00000371901.3 + 8 1200 c.950G>A c.(949-951)gGa>gAa p.G317E CYP4X1_ENST00000538609.1_Missense_Mutation_p.G316E|CYP4X1_ENST00000466294.1_3'UTR NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 317 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 CTGTTGGCAGGACATGACACC 0.463000 33 76 0 0 1 0 0 COLEC11 78989 broad.mit.edu 37 2 3660912 3660912 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:3660912G>A ENST00000403096.3 + 2 555 c.64G>A c.(64-66)Gag>Aag p.E22K COLEC11_ENST00000236693.7_Silent_p.E18E|COLEC11_ENST00000418971.2_Missense_Mutation_p.E62K|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000382062.2_Missense_Mutation_p.E48K|COLEC11_ENST00000487365.1_Intron|COLEC11_ENST00000349077.4_Missense_Mutation_p.E48K|COLEC11_ENST00000402922.1_Missense_Mutation_p.E22K|COLEC11_ENST00000402794.1_Intron NM_001255986.1 NP_001242915.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 48 collagen mannose binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) GGATGCGGGAGAGAAGGGAGA 0.592000 4 19 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89171280 89171280 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:89171280C>T ENST00000554922.1 - 13 2223 c.1975G>A c.(1975-1977)Gag>Aag p.E659K EML5_ENST00000352093.5_Missense_Mutation_p.E659K|EML5_ENST00000380664.5_Missense_Mutation_p.E659K NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 659 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TTTTGTTTCTCTTTGCACTGT 0.318000 6 42 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140850162 140850162 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:140850162G>A ENST00000371372.1 + 8 1228 c.1083G>A c.(1081-1083)aaG>aaA p.K361K CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Silent_p.K361K|CACNA1B_ENST00000371355.4_Silent_p.K361K|CACNA1B_ENST00000277551.2_Silent_p.K361K|CACNA1B_ENST00000371363.1_Silent_p.K361K NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 361 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) AGTTTGCCAAGGAGCGAGAGA 0.607000 4 21 0 0 1 0 0 CHST11 50515 broad.mit.edu 37 12 105151081 105151081 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:105151081G>A ENST00000303694.5 + 3 998 c.559G>A c.(559-561)Gag>Aag p.E187K CHST11_ENST00000549260.1_Missense_Mutation_p.E182K NM_018413.5 NP_060883.1 Q9NPF2 CHSTB_HUMAN carbohydrate (chondroitin 4) sulfotransferase 11 187 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 GTTTGTCCGGGAGCCCTTCGA 0.537000 14 62 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22204957 22204957 + Silent SNP G G A rs143110975 byFrequency TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:22204957G>A ENST00000374695.3 - 20 2665 c.2586C>T c.(2584-2586)ccC>ccT p.P862P NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 862 Laminin EGF-like 3. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CGGGCTGGATGGGGTTGCCCT 0.682000 5 14 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238050775 238050775 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:238050775G>A ENST00000366570.4 - 5 798 c.640C>T c.(640-642)Cgc>Tgc p.R214C RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 214 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AGGGCCAAGCGCACAGAATCC 0.507000 20 113 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10435015 10435015 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:10435015C>T ENST00000245503.5 - 22 3016 c.2632G>A c.(2632-2634)Gaa>Aaa p.E878K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E878K|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 878 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TCTTCCAGTTCCTTCCTTTTT 0.423000 16 76 0 0 1 0 0 FAM129A 116496 broad.mit.edu 37 1 184764624 184764624 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:184764624G>A ENST00000367511.3 - 14 2467 c.2274C>T c.(2272-2274)atC>atT p.I758I FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 758 Glu-rich. negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 TGTCGGGGTGGATGGCAGCTG 0.557000 53 409 0 0 1 0 0 AMIGO2 347902 broad.mit.edu 37 12 47472265 47472265 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:47472265C>T ENST00000266581.4 - 2 987 c.521G>A c.(520-522)gGa>gAa p.G174E AMIGO2_ENST00000550413.1_Missense_Mutation_p.G174E|AMIGO2_ENST00000429635.1_Missense_Mutation_p.G174E|AMIGO2_ENST00000321382.3_Missense_Mutation_p.G174E NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 174 heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) GAGAAAATTTCCACTTAAGTA 0.413000 13 60 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9075928 9075928 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:9075928G>A ENST00000397910.4 - 3 11721 c.11518C>T c.(11518-11520)Cca>Tca p.P3840S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3841 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 GCTGTGTGTGGGATCACATCC 0.502000 28 76 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55032625 55032625 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:55032625C>T ENST00000417545.2 + 2 380 c.294C>T c.(292-294)ctC>ctT p.L98L NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 82 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AAGCCAGTCTCTGGCTATTCC 0.453000 18 54 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40056421 40056421 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:40056421G>A ENST00000336649.4 + 18 2695 c.2695G>A c.(2695-2697)Gaa>Aaa p.E899K CACNA1I_ENST00000400164.3_Missense_Mutation_p.E858K|CACNA1I_ENST00000404898.1_Missense_Mutation_p.E858K|CACNA1I_ENST00000401624.1_Missense_Mutation_p.E893K|CACNA1I_ENST00000402142.3_Missense_Mutation_p.E893K|CACNA1I_ENST00000407673.1_Missense_Mutation_p.E858K Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 893 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TAAGCTCCAGGAAGGCCTGGA 0.572000 22 25 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128150694 128150694 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:128150694C>T ENST00000368250.1 - 4 897 c.399G>A c.(397-399)acG>acA p.T133T THEMIS_ENST00000543064.1_Silent_p.T212T|THEMIS_ENST00000537166.1_Silent_p.T177T|THEMIS_ENST00000368248.2_Silent_p.T212T Q8N1K5 THMS1_HUMAN thymocyte selection associated 212 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 GAAATGGATTCGTTGAGTCCC 0.353000 9 40 0 0 1 0 0 PGS1 9489 broad.mit.edu 37 17 76399844 76399844 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:76399844C>T ENST00000262764.6 + 7 1102 c.1076C>T c.(1075-1077)cCc>cTc p.P359L PGS1_ENST00000329897.7_Missense_Mutation_p.P224L|PGS1_ENST00000588281.1_3'UTR NM_024419.3 NP_077733.3 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 359 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) CAGATGAAGCCCTTCGAGATT 0.537000 21 96 0 0 1 0 0 CDCA2 157313 broad.mit.edu 37 8 25364920 25364920 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:25364920C>T ENST00000330560.3 + 15 3215 c.2738C>T c.(2737-2739)cCt>cTt p.P913L CDCA2_ENST00000380665.3_Missense_Mutation_p.P898L|CDCA2_ENST00000521098.2_3'UTR NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 913 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) CTTCCACTTCCTTCCACTTCC 0.408000 59 148 0 0 1 0 0 TAS2R16 50833 broad.mit.edu 37 7 122635335 122635335 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:122635335C>T ENST00000249284.2 - 1 419 c.354G>A c.(352-354)ctG>ctA p.L118L NM_016945.2 NP_058641.1 Q9NYV7 T2R16_HUMAN taste receptor, type 2, member 16 118 detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TTCTCCACCTCAGCCAGAGAA 0.393000 9 53 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43571422 43571422 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:43571422C>T ENST00000452443.2 - 11 1736 c.1732G>A c.(1732-1734)Gac>Aac p.D578N NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 578 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) AGCTTTTCGTCCGTTAGCTTG 0.527000 9 28 0 0 1 0 0 KRTAP5-9 3846 broad.mit.edu 37 11 71259894 71259894 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:71259894C>T ENST00000528743.2 + 1 429 c.191C>T c.(190-192)tCc>tTc p.S64F NM_005553.3 NP_005544.4 P26371 KRA59_HUMAN keratin associated protein 5-9 64 8 X 4 AA repeats of C-C-X-P. epidermis development keratin filament p.S64F(1) kidney(1)|large_intestine(1)|lung(6)|prostate(3) 11 GGCTGTGGCTCCTGTGGGGGC 0.632000 47 170 0 0 1 0 0 GGA2 23062 broad.mit.edu 37 16 23504719 23504719 + Missense_Mutation SNP G G A rs143003037 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:23504719G>A ENST00000309859.4 - 4 395 c.313C>T c.(313-315)Cgt>Tgt p.R105C GGA2_ENST00000567468.1_Missense_Mutation_p.R105C NM_015044.4 NP_055859.1 Q9UJY4 GGA2_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 2 105 VHS. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network ADP-ribosylation factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(48;0.0386) TTCAGGAAACGAAATTTGGCC 0.552000 18 61 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51096504 51096504 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:51096504G>A ENST00000395542.2 - 12 2719 c.2535C>T c.(2533-2535)ccC>ccT p.P845P COBL_ENST00000265136.7_Silent_p.P763P O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 763 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CTTTCCCAATGGGCTGAGATT 0.572000 31 41 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1629800 1629800 + Missense_Mutation SNP T T G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:1629800T>G ENST00000381580.1 - 2 408 c.229A>C c.(229-231)Acc>Ccc p.T77P SIRPG_ENST00000303415.3_Missense_Mutation_p.T110P|SIRPG_ENST00000344103.4_Missense_Mutation_p.T110P|SIRPG_ENST00000381583.2_Missense_Mutation_p.T110P|SIRPG_ENST00000216927.4_Missense_Mutation_p.T110P Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 110 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 TCTGCTGGGGTGATGCTACTG 0.478000 29 115 0 0 1 0 0 DGKG 1608 broad.mit.edu 37 3 185997694 185997694 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:185997694G>A ENST00000265022.3 - 9 1277 c.738C>T c.(736-738)gtC>gtT p.V246V DGKG_ENST00000544847.1_Silent_p.V246V|DGKG_ENST00000382164.4_Silent_p.V246V|DGKG_ENST00000344484.4_Silent_p.V246V NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 246 EF-hand 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) TCCCTCCATGGACCCATTCCT 0.502000 30 102 0 0 1 0 0 EXD1 161829 broad.mit.edu 37 15 41476254 41476254 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:41476254C>T ENST00000314992.5 - 10 1610 c.1420G>A c.(1420-1422)Gaa>Aaa p.E474K EXD1_ENST00000458580.2_Missense_Mutation_p.E532K NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 474 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 ACTCTGGTTTCCTGAGGAAAG 0.418000 18 74 0 0 1 0 0 CP 1356 broad.mit.edu 37 3 148939590 148939590 + Translation_Start_Site SNP T T A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:148939590T>A ENST00000264613.6 - 0 252 NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) TTTTTTCCCCTTCTTGGAGCC 0.333000 8 27 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282254 152282254 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:152282254G>A ENST00000368799.1 - 3 5143 c.5108C>T c.(5107-5109)tCa>tTa p.S1703L FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1703 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACTACAGATGAATCTTGTCT 0.572000 Ichthyosis 93 683 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113988200 113988200 + Missense_Mutation SNP T T A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:113988200T>A ENST00000297405.5 - 7 1452 c.1208A>T c.(1207-1209)aAt>aTt p.N403I CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.N403I|CSMD3_ENST00000343508.3_Missense_Mutation_p.N363I NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 403 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 CAGACCTGAATTTCTGAGACT 0.493000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 54 78 0 0 1 0 0 DOK6 220164 broad.mit.edu 37 18 67508588 67508588 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr18:67508588G>A ENST00000382713.5 + 8 1155 c.965G>A c.(964-966)gGa>gAa p.G322E NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 322 insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) AGCAGCTATGGATTCAGCTAC 0.552000 12 62 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35876471 35876471 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:35876471C>T ENST00000303115.3 + 8 1392 c.1263C>T c.(1261-1263)ctC>ctT p.L421L IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 421 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CATTTTCTCTCCAATCTGGAA 0.512000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 15 42 0 0 1 0 0 ZNF648 127665 broad.mit.edu 37 1 182026146 182026146 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:182026146G>A ENST00000339948.3 - 2 1207 c.1000C>T c.(1000-1002)Ccc>Tcc p.P334S NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 334 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 CACGGGTAGGGTTTCTCGCCT 0.632000 32 36 0 0 1 0 0 EIF4A1 1973 broad.mit.edu 37 17 7478546 7478546 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:7478546C>T ENST00000293831.8 + 4 331 c.315C>T c.(313-315)gtC>gtT p.V105V EIF4A1_ENST00000582746.1_Silent_p.V105V|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Silent_p.V105V|EIF4A1_ENST00000380512.5_Silent_p.V89V NM_001416.3 NP_001407.1 P60842 IF4A1_HUMAN eukaryotic translation initiation factor 4A1 105 Helicase ATP-binding. nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 22 AGGCCTTGGTCCTAGCACCCA 0.488000 21 63 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43813627 43813627 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:43813627G>A ENST00000382031.1 + 5 701 c.670G>A c.(670-672)Gag>Aag p.E224K MAP1A_ENST00000300231.5_5'UTR|MAP1A_ENST00000399453.1_5'UTR P78559 MAP1A_HUMAN microtubule-associated protein 1A 0 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CAGTTCCCAAGAGACCCTGCA 0.572000 23 82 0 0 1 0 0 SPERT 220082 broad.mit.edu 37 13 46288494 46288494 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr13:46288494C>T ENST00000378966.3 + 2 1642 c.1226C>T c.(1225-1227)cCt>cTt p.P409L SPERT_ENST00000310521.1_Missense_Mutation_p.P445L Q8NA61 SPERT_HUMAN spermatid associated 445 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) CCCAAGAAGCCTAGCAGGGTC 0.622000 5 6 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41711176 41711176 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr21:41711176G>A ENST00000400454.1 - 7 1854 c.1377C>T c.(1375-1377)atC>atT p.I459I NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 459 Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CCTCCGACGTGATCATCTGGC 0.602000 18 54 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7645562 7645562 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:7645562C>T ENST00000340209.4 + 5 792 c.495C>T c.(493-495)ttC>ttT p.F165F RBFOX1_ENST00000550418.1_Silent_p.F160F|RBFOX1_ENST00000311745.5_Silent_p.F180F|RBFOX1_ENST00000422070.4_Silent_p.F203F|RBFOX1_ENST00000547338.1_Silent_p.F160F|RBFOX1_ENST00000547372.1_Silent_p.F203F|RBFOX1_ENST00000355637.4_Silent_p.F180F|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000436368.2_Silent_p.F180F|RBFOX1_ENST00000553186.1_Silent_p.F160F|RBFOX1_ENST00000552089.1_Silent_p.F177F Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 160 RRM. mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 GATTTGGTTTCGTAACTTTCG 0.443000 18 85 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19186080 19186080 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:19186080C>T ENST00000375371.3 - 1 96 c.75G>A c.(73-75)tcG>tcA p.S25S RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 25 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GGTAGAAGTCCGAGTTCTCAG 0.582000 16 79 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111758031 111758031 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:111758031G>A ENST00000261726.6 + 17 2372 c.2218G>A c.(2218-2220)Ggg>Agg p.G740R NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 740 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GAGCCAGAACGGGGCCCCGGC 0.761000 3 8 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27456642 27456642 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:27456642C>T ENST00000264705.4 + 21 3527 c.3365C>T c.(3364-3366)cCc>cTc p.P1122L CAD_ENST00000403525.1_Missense_Mutation_p.P1059L NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1122 ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) AAAGAGCATCCCGTGGTCATC 0.592000 11 46 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198668750 198668750 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:198668750C>T ENST00000367376.2 + 5 521 c.350C>T c.(349-351)tCt>tTt p.S117F PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.S119F|PTPRC_ENST00000352140.3_Missense_Mutation_p.S117F|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 117 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 CAGACGCCCTCTGCTGGAACT 0.547000 OREG0014061 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 101 168 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2818684 2818684 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:2818684C>T ENST00000520002.1 - 63 10239 c.9684G>A c.(9682-9684)caG>caA p.Q3228Q CSMD1_ENST00000602723.1_Silent_p.Q3051Q|CSMD1_ENST00000602557.1_Silent_p.Q3228Q|CSMD1_ENST00000400186.3_Silent_p.Q3051Q|CSMD1_ENST00000542608.1_Silent_p.Q3050Q|CSMD1_ENST00000537824.1_Silent_p.Q3227Q Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3228 Sushi 27. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGGAGCTATTCTGTATTCCAA 0.348000 10 12 0 0 1 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49658331 49658331 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:49658331C>T ENST00000249601.4 - 9 2137 c.1841G>A c.(1840-1842)cGg>cAg p.R614Q ARHGAP22_ENST00000374170.1_Missense_Mutation_p.R455Q|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.R524Q|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R620Q|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.R447Q|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R630Q|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.R505Q NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 614 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTACTCAGTCCGCTGGCGGCA 0.682000 6 13 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102195860 102195860 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:102195860G>A ENST00000306176.1 + 10 1195 c.1095G>A c.(1093-1095)gaG>gaA p.E365E ZPLD1_ENST00000491959.1_Silent_p.E349E|ZPLD1_ENST00000466937.1_Silent_p.E349E NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 349 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 CCTCAGATGAGACTCCAACCA 0.303000 12 49 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54920357 54920357 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:54920357C>T ENST00000293373.6 + 21 2281 c.2202C>T c.(2200-2202)atC>atT p.I734I NCKAP1L_ENST00000545638.2_Silent_p.I684I NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 734 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 CCCAGGAGATCGTACGGCCTT 0.448000 20 52 0 0 1 0 0 GLP1R 2740 broad.mit.edu 37 6 39053697 39053697 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:39053697C>T ENST00000373256.4 + 13 1283 c.1240C>T c.(1240-1242)Cgg>Tgg p.R414W NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 414 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 p.R414W(1) 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) GCTGGAATTTCGGAAGAGCTG 0.547000 40 199 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114031317 114031317 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:114031317C>T ENST00000297405.5 - 6 1253 c.1009G>A c.(1009-1011)Gga>Aga p.G337R CSMD3_ENST00000455883.2_Missense_Mutation_p.G337R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G337R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G297R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 337 CUB 2. 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 GCACTAAATCCACGGTATCGA 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 30 73 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105353778 105353778 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:105353778C>T ENST00000453495.1 + 12 3433 c.3205C>T c.(3205-3207)Cct>Tct p.P1069S CEP170B_ENST00000418279.1_Missense_Mutation_p.P998S|CEP170B_ENST00000556508.1_Missense_Mutation_p.P998S|CEP170B_ENST00000414716.3_Missense_Mutation_p.P1068S centrosomal protein 170B CCACGAAACCCCTGAGGCCAC 0.692000 6 42 0 0 1 0 0 PI4KB 5298 broad.mit.edu 37 1 151280271 151280271 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:151280271G>A ENST00000368875.2 - 5 1577 c.997C>T c.(997-999)Cga>Tga p.R333* PI4KB_ENST00000368872.1_Nonsense_Mutation_p.R306*|PI4KB_ENST00000368873.1_Nonsense_Mutation_p.R321*|PI4KB_ENST00000368874.4_Nonsense_Mutation_p.R306*|PI4KB_ENST00000271657.5_Nonsense_Mutation_p.R333*|PI4KB_ENST00000529142.1_5'UTR NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 321 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGAGCCAGTCGAACAGGCTAC 0.547000 9 100 0 0 1 0 0 KHDC1 80759 broad.mit.edu 37 6 73951787 73951787 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:73951787G>A ENST00000423730.3 - 3 721 c.286C>T c.(286-288)Cat>Tat p.H96Y KHDC1_ENST00000370384.3_Missense_Mutation_p.H169Y|KHDC1_ENST00000257765.5_Missense_Mutation_p.H96Y CCTCGAGCATGATGATAGGAG 0.512000 9 16 0 0 1 0 0 MGEA5 10724 broad.mit.edu 37 10 103552598 103552598 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:103552598C>T ENST00000361464.3 - 12 2568 c.2173G>A c.(2173-2175)Gag>Aag p.E725K MGEA5_ENST00000439817.1_Missense_Mutation_p.E672K|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.E658K NM_012215.3 NP_036347.1 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 725 Histone acetyltransferase activity (By similarity).|Required for histone H4 binding (By similarity). glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) ACAATTACCTCATCCTTAGGA 0.398000 27 89 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809386 18809386 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:18809386C>T ENST00000400664.1 + 1 1963 c.1911C>T c.(1909-1911)ttC>ttT p.F637F NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 637 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) AGGAAATCTTCGTCACCGGCG 0.716000 5 17 0 0 1 0 0 RAG2 5897 broad.mit.edu 37 11 36614757 36614757 + Missense_Mutation SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:36614757T>C ENST00000311485.3 - 2 1123 c.962A>G c.(961-963)aAc>aGc p.N321S NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 321 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) ATTTCCCATGTTGCTTCCAAA 0.388000 Familial Hemophagocytic Lymphohistiocytosis 44 159 0 0 1 0 0 AFP 174 broad.mit.edu 37 4 74313371 74313371 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:74313371G>A ENST00000395792.2 + 8 1136 c.1036G>A c.(1036-1038)Gaa>Aaa p.E346K AFP_ENST00000226359.2_Missense_Mutation_p.E346K NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 346 Albumin 2. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTCTTCAGGGGAAAAAAATAT 0.338000 Alpha-Fetoprotein, Hereditary Persistence of 5 21 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42479896 42479896 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:42479896C>T ENST00000545399.1 - 16 2340 c.2187G>A c.(2185-2187)aaG>aaA p.K729K ATP1A3_ENST00000543770.1_Silent_p.K727K|ATP1A3_ENST00000302102.5_Silent_p.K716K|ATP1A3_ENST00000602133.1_Silent_p.K686K NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 716 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 TGTCGGCCTTCTTCAGAGCGG 0.602000 28 121 0 0 1 0 0 CPT1A 1374 broad.mit.edu 37 11 68552399 68552399 + Silent SNP A A G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:68552399A>G ENST00000265641.5 - 10 1201 c.1047T>C c.(1045-1047)caT>caC p.H349H CPT1A_ENST00000376618.2_Silent_p.H349H|CPT1A_ENST00000540367.1_Silent_p.H349H|CPT1A_ENST00000539743.1_Silent_p.H349H NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 349 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) GCCGCCCATCATGGTAGAGCC 0.622000 10 43 0 0 1 0 0 KDELR1 10945 broad.mit.edu 37 19 48892884 48892884 + Missense_Mutation SNP A A G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:48892884A>G ENST00000597017.1 - 2 516 c.91T>C c.(91-93)Ttc>Ctc p.F31L KDELR1_ENST00000330720.2_Missense_Mutation_p.F93L P24390 ERD21_HUMAN KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 93 intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction KDEL sequence binding|protein binding|receptor activity NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1) 11 all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203) all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145) TCCACTCTGAACGTGTCATGG 0.522000 19 75 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13944521 13944521 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:13944521G>A ENST00000265104.4 - 1 131 c.27C>T c.(25-27)ctC>ctT p.L9L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 9 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TATGCTTCCAGAGCTGTCTCC 0.488000 Kartagener syndrome 20 45 0 0 1 0 0 CASP4 837 broad.mit.edu 37 11 104820331 104820331 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:104820331G>A ENST00000444739.2 - 5 1630 c.720C>T c.(718-720)aaC>aaT p.N240N CASP4_ENST00000393150.3_Silent_p.N184N NM_001225.3 NP_001216.1 P49662 CASP4_HUMAN caspase 4, apoptosis-related cysteine peptidase 240 apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2) 23 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) GGCAGTTGCGGTTGTTGAATA 0.478000 21 62 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303507 151303507 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:151303507G>A ENST00000370323.4 - 4 902 c.586C>T c.(586-588)Ccc>Tcc p.P196S MAGEA10_ENST00000244096.3_Missense_Mutation_p.P196S|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 196 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TGGCCAGTGGGATCCACTTCC 0.493000 12 18 0 0 1 0 0 RPL12 6136 broad.mit.edu 37 9 130210242 130210242 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:130210242C>T ENST00000361436.5 - 6 493 c.406G>A c.(406-408)Gcc>Acc p.A136T RPL12_ENST00000536368.1_Missense_Mutation_p.A103T|RPL12_ENST00000497322.1_5'UTR NM_000976.3 NP_000967.1 P30050 RL12_HUMAN ribosomal protein L12 136 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1) 4 ACTGACTGGGCAGTCCCCAGG 0.493000 17 50 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 107016580 107016580 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:107016580C>T ENST00000369701.3 + 25 3568 c.3341C>T c.(3340-3342)cCa>cTa p.P1114L NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1114 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TTCCAAGCTCCATTGGTGGAC 0.453000 8 26 0 0 1 0 0 PTGER4 5734 broad.mit.edu 37 5 40692317 40692317 + Missense_Mutation SNP G G A rs138674524 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:40692317G>A ENST00000302472.3 + 3 2328 c.1304G>A c.(1303-1305)cGa>cAa p.R435Q NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 435 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 AGGACTTTGCGAATATCAGAG 0.582000 4 26 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219561883 219561883 + Missense_Mutation SNP C C T rs141444996 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:219561883C>T ENST00000295709.3 + 23 2987 c.2708C>T c.(2707-2709)tCg>tTg p.S903L STK36_ENST00000440309.1_Missense_Mutation_p.S903L|STK36_ENST00000392106.2_Missense_Mutation_p.S882L|STK36_ENST00000392105.3_Missense_Mutation_p.S882L NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 903 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GGGGAGCTTTCGCTATCCAGT 0.527000 32 103 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138452578 138452578 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:138452578C>T ENST00000344876.4 - 1 1051 c.665G>A c.(664-666)gGa>gAa p.G222E PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.G222E|PCDH18_ENST00000507846.1_Missense_Mutation_p.G2E|PCDH18_ENST00000510305.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 222 Cadherin 2. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CTGAGGTACTCCCATGTCTGA 0.458000 18 53 0 0 1 0 0 C2orf80 389073 broad.mit.edu 37 2 209045498 209045498 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:209045498C>T ENST00000341287.4 - 6 532 c.337G>A c.(337-339)Gat>Aat p.D113N C2orf80_ENST00000451346.1_Missense_Mutation_p.D94N|C2orf80_ENST00000453017.1_Missense_Mutation_p.D113N NM_001099334.2 NP_001092804.1 Q0P641 CB080_HUMAN chromosome 2 open reading frame 80 113 endometrium(2)|large_intestine(3)|lung(6)|skin(2) 13 GCAGAAGAATCAGCCCCATAA 0.338000 20 54 0 0 1 0 0 CCAR2 57805 broad.mit.edu 37 8 22472972 22472972 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:22472972G>A ENST00000308511.4 + 12 1489 c.1240G>A c.(1240-1242)Gga>Aga p.G414R RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000520861.1_Missense_Mutation_p.G89R|KIAA1967_ENST00000389279.3_Missense_Mutation_p.G414R Q8N163 K1967_HUMAN 414 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5) 25 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CCTGCAGCCGGGACCCCCCCG 0.582000 45 101 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19455440 19455440 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:19455440C>T ENST00000396229.2 + 4 1575 c.826C>T c.(826-828)Cgt>Tgt p.R276C TMC5_ENST00000381414.4_Missense_Mutation_p.R276C|TMC5_ENST00000542583.2_Missense_Mutation_p.R276C|TMC5_ENST00000541464.1_Missense_Mutation_p.R276C NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 276 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GCCCTCATTTCGTCACAGGAG 0.463000 23 56 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248343781 248343781 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:248343781C>T ENST00000359682.2 + 1 494 c.494C>T c.(493-495)tCc>tTc p.S165F NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCCACATTTTCCTTCTCCTTT 0.423000 157 274 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121976029 121976029 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:121976029G>A ENST00000498619.1 + 3 725 c.287G>A c.(286-288)aGg>aAg p.R96K CASR_ENST00000296154.5_Missense_Mutation_p.R96K|CASR_ENST00000490131.1_Missense_Mutation_p.R96K NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 96 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CTGGGATACAGGATATTTGAC 0.443000 17 82 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1049425 1049425 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:1049425G>A ENST00000263094.6 + 18 2772 c.2541G>A c.(2539-2541)aaG>aaA p.K847K ABCA7_ENST00000435683.2_Silent_p.K709K|ABCA7_ENST00000433129.1_Silent_p.K847K NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 847 ABC transporter 1. phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) GGGCCGGCAAGACCACCACCC 0.716000 14 38 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525570 176525570 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:176525570G>A ENST00000367662.3 + 2 1276 c.112G>A c.(112-114)Gaa>Aaa p.E38K PAPPA2_ENST00000367661.3_Missense_Mutation_p.E38K NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 38 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGTTGAGAGGGAACACCTGAA 0.527000 112 88 0 0 1 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186901996 186901996 + Missense_Mutation SNP T T G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:186901996T>G ENST00000367466.3 + 8 812 c.660T>G c.(658-660)tgT>tgG p.C220W PLA2G4A_ENST00000466600.1_Intron|PLA2G4A_ENST00000442353.2_Missense_Mutation_p.C160W NM_024420.2 NP_077734.1 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 220 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TTCTGGATTGTGCTACCTACG 0.408000 20 185 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772720 4772720 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:4772720G>A ENST00000378191.4 + 2 1171 c.790G>A c.(790-792)Gaa>Aaa p.E264K AJAP1_ENST00000378190.3_Missense_Mutation_p.E264K NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 264 cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CAACAACGGGGAAGTCACCCA 0.607000 25 132 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119129970 119129970 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:119129970C>T ENST00000328252.3 + 19 4911 c.4542C>T c.(4540-4542)atC>atT p.I1514I PAPPA_ENST00000534838.1_Silent_p.I552I NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1514 Sushi 5. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GCGAGTCCATCATCCTGCCAA 0.607000 7 22 0 0 1 0 0 TRAF4 9618 broad.mit.edu 37 17 27075074 27075074 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:27075074C>T ENST00000262395.5 + 4 469 c.340C>T c.(340-342)Cct>Tct p.P114S TRAF4_ENST00000444415.3_Missense_Mutation_p.P114S|TRAF4_ENST00000262396.6_Missense_Mutation_p.P114S NM_004295.3 NP_004286.2 Q9BUZ4 TRAF4_HUMAN TNF receptor-associated factor 4 114 apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 Lung NSC(42;0.01) Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235) CATTCCCTGCCCTAATCGCTG 0.587000 13 70 0 0 1 0 0 OBSL1 23363 broad.mit.edu 37 2 220432650 220432650 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:220432650C>T ENST00000404537.1 - 3 1380 c.1324G>A c.(1324-1326)Gaa>Aaa p.E442K OBSL1_ENST00000289656.3_Missense_Mutation_p.E29K|OBSL1_ENST00000373876.1_Missense_Mutation_p.E442K|OBSL1_ENST00000603926.1_Missense_Mutation_p.E442K|OBSL1_ENST00000265318.4_Missense_Mutation_p.E442K|OBSL1_ENST00000373873.4_Missense_Mutation_p.E442K NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 442 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) TTCTCTCCTTCCAGGACGTCG 0.632000 10 31 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38631905 38631905 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:38631905C>T ENST00000222345.6 + 11 3734 c.3225C>T c.(3223-3225)ccC>ccT p.P1075P NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1075 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) GCCGGCCCCCCTACCGCAGCA 0.632000 23 99 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41033174 41033174 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:41033174G>A ENST00000399564.4 - 23 2780 c.2330C>T c.(2329-2331)tCc>tTc p.S777F MROH2B_ENST00000506092.2_Missense_Mutation_p.S332F NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CTCCTTGTAGGAAAACTGGAA 0.448000 6 30 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140348413 140348413 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140348413C>T ENST00000289269.5 + 1 2594 c.2062C>T c.(2062-2064)Ctc>Ttc p.L688F PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 688 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCAAAATCCTCCCTGACAC 0.438000 11 45 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16255422 16255422 + Splice_Site SNP C C T rs72664210 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:16255422C>T ENST00000205557.7 - 25 3536 c.e25-1 NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CGCAAGCCACCTGCAAAGGGA 0.582000 10 32 0 0 1 0 0 SLFN11 91607 broad.mit.edu 37 17 33680369 33680369 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:33680369C>T ENST00000394566.1 - 6 2180 c.1908G>A c.(1906-1908)ctG>ctA p.L636L SLFN11_ENST00000308377.4_Silent_p.L636L NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 636 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TAAAGTTCCTCAGAGGCTGGT 0.403000 18 83 0 0 1 0 0 SLC22A9 114571 broad.mit.edu 37 11 63149688 63149688 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:63149688C>T ENST00000279178.3 + 6 1261 c.1012C>T c.(1012-1014)Ctg>Ttg p.L338L SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 338 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 AAAACCTTCTCTGTGTGAAAT 0.388000 27 92 0 0 1 0 0 UBASH3A 53347 broad.mit.edu 37 21 43855000 43855000 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr21:43855000G>A ENST00000319294.6 + 10 1360 c.1329G>A c.(1327-1329)ggG>ggA p.G443G UBASH3A_ENST00000291535.6_Silent_p.G405G|UBASH3A_ENST00000398367.1_Silent_p.G405G NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 443 Phosphatase-like. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 GGAGTCGTGGGATCAAAGACT 0.438000 27 70 0 0 1 0 0 SYT2 127833 broad.mit.edu 37 1 202566040 202566040 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:202566040C>T ENST00000367267.1 - 9 1297 c.1105G>A c.(1105-1107)Gaa>Aaa p.E369K SYT2_ENST00000367268.4_Missense_Mutation_p.E369K NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 369 C2 2.|Phospholipid binding (By similarity). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) CCTATGGCTTCGTTCTTGCCC 0.607000 62 80 0 0 1 0 0 TTC26 79989 broad.mit.edu 37 7 138863333 138863333 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:138863333G>A ENST00000464848.1 + 14 1311 c.1231G>A c.(1231-1233)Gag>Aag p.E411K TTC26_ENST00000430935.1_Missense_Mutation_p.E411K|TTC26_ENST00000478836.2_Missense_Mutation_p.E304K|TTC26_ENST00000343187.4_Missense_Mutation_p.E380K|TTC26_ENST00000495038.1_Missense_Mutation_p.E280K A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 411 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 CAATACCAGTGAGGGCGAAGA 0.378000 10 71 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52370060 52370060 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:52370060G>A ENST00000356297.4 - 9 1080 c.980C>T c.(979-981)cCa>cTa p.P327L PXDNL_ENST00000543296.1_Missense_Mutation_p.P327L NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 327 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) AGTTTTACCTGGAAGACTGGA 0.403000 14 48 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17742434 17742434 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:17742434G>A ENST00000380060.3 + 5 1399 c.1061G>A c.(1060-1062)aGa>aAa p.R354K NHS_ENST00000398097.3_Missense_Mutation_p.R198K|NHS_ENST00000485305.1_3'UTR NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 354 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) GGCTTTGACAGAGAGGCTAGT 0.438000 18 32 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65408298 65408298 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:65408298C>T ENST00000519389.1 + 5 1064 c.885C>T c.(883-885)ctC>ctT p.L295L HEPH_ENST00000441993.2_Silent_p.L244L|HEPH_ENST00000374727.3_Silent_p.L244L|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000343002.2_Silent_p.L241L|HEPH_ENST00000419594.1_Silent_p.L244L Q9BQS7 HEPH_HUMAN hephaestin 241 Plastocyanin-like 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GCTGGCATCTCAATGAGAACA 0.488000 6 12 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82817297 82817297 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:82817297G>A ENST00000265077.3 + 7 3737 c.3172G>A c.(3172-3174)Gag>Aag p.E1058K VCAN_ENST00000342785.4_Missense_Mutation_p.E1058K|VCAN_ENST00000512590.2_Missense_Mutation_p.E1010K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1058 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) GACTCCCAAGGAGGCAGTAAC 0.463000 10 43 0 0 1 0 0 MSANTD1 345222 broad.mit.edu 37 4 3251111 3251111 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:3251111C>T ENST00000438480.2 + 1 1909 c.162C>T c.(160-162)ctC>ctT p.L54L MSANTD1_ENST00000510580.1_Silent_p.L54L|MSANTD1_ENST00000507492.1_Silent_p.L41L NM_001042690.1 NP_001036155.1 Q6ZTZ1 CD044_HUMAN Myb/SANT-like DNA-binding domain containing 1 54 endometrium(1)|lung(2) 3 TGCGCGGCCTCATGCTGGTCT 0.677000 6 7 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128134093 128134093 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:128134093C>T ENST00000368250.1 - 5 1954 c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K THEMIS_ENST00000543064.1_Missense_Mutation_p.E565K|THEMIS_ENST00000537166.1_Missense_Mutation_p.E530K|THEMIS_ENST00000368248.2_Missense_Mutation_p.E565K Q8N1K5 THMS1_HUMAN thymocyte selection associated 565 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 AACTTTGTTTCCTCTACTGAG 0.483000 35 89 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20668389 20668389 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:20668389C>T ENST00000404938.2 + 4 839 c.187C>T c.(187-189)Cct>Tct p.P63S NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 262 ABC transporter 1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 AGCCTGCCTTCCTTTAATGCC 0.423000 6 20 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61510880 61510880 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:61510880G>A ENST00000266070.4 - 16 6753 c.6428C>T c.(6427-6429)tCc>tTc p.S2143F DIDO1_ENST00000395343.1_Missense_Mutation_p.S2143F NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 2143 Arg-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) gtcccggctggagtccttgtc 0.726000 11 42 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145633213 145633213 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:145633213G>A ENST00000296575.3 + 8 2068 c.1413G>A c.(1411-1413)ggG>ggA p.G471G NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 471 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding p.G471G(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) TAATAAAGGGGAAAGATTATG 0.313000 23 64 0 0 1 0 0 MMRN2 79812 broad.mit.edu 37 10 88703833 88703833 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:88703833G>A ENST00000372027.4 - 6 781 c.708C>T c.(706-708)ttC>ttT p.F236F NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 236 extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 GCACTTGTAGGAAGGTGTCCA 0.547000 11 51 0 0 1 0 0 OR51B2 79345 broad.mit.edu 37 11 5345040 5345040 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:5345040G>A ENST00000328813.2 - 1 542 c.488C>T c.(487-489)tCa>tTa p.S163L HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATATGAAAATGAAAAAAGACG 0.398000 28 67 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90103462 90103462 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:90103462C>T ENST00000405460.2 + 73 14976 c.14880C>T c.(14878-14880)ttC>ttT p.F4960F GPR98_ENST00000425867.2_Silent_p.F621F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4960 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AAGGAGTTTTCCTGTGGACGT 0.468000 10 23 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50531996 50531996 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:50531996C>T ENST00000374144.3 + 3 1694 c.1406C>T c.(1405-1407)cCa>cTa p.P469L C10orf71_ENST00000323868.4_Missense_Mutation_p.P469L Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 469 endometrium(1) 1 GAGCGAACCCCATCACCCCCA 0.547000 8 47 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058007 152058007 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:152058007C>T ENST00000368806.1 - 3 2215 c.2151G>A c.(2149-2151)caG>caA p.Q717Q NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 717 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) ACAGAGTATTCTGGGCCTCTG 0.438000 40 188 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53958320 53958320 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:53958320C>T ENST00000454407.1 + 0 1012 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) GCCCAAAACCCATATATCTAA 0.363000 19 84 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33905432 33905432 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:33905432C>T ENST00000389232.4 + 19 2283 c.2213C>T c.(2212-2214)tCg>tTg p.S738L RYR3_ENST00000415757.3_Missense_Mutation_p.S738L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 738 B30.2/SPRY 1. 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) CTCCTGAGATCGGATGACGTG 0.572000 4 23 0 0 1 0 0 ADH7 131 broad.mit.edu 37 4 100341910 100341910 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:100341910C>T ENST00000437033.2 - 6 1108 c.605G>A c.(604-606)gGa>gAa p.G202E ADH7_ENST00000209665.4_Missense_Mutation_p.G214E|ADH7_ENST00000476959.1_Missense_Mutation_p.G222E|ADH7_ENST00000482593.1_Missense_Mutation_p.G145E P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 214 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) CAGGCCAACTCCTCCCAGGCC 0.473000 14 38 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67255937 67255937 + Splice_Site SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:67255937G>A ENST00000392676.3 - 28 3705 c.3639_splice c.e28-1 p.P1214_splice ABCA5_ENST00000392677.2_Splice_Site_p.P1215_splice|ABCA5_ENST00000588877.1_Splice_Site_p.P1214_splice Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 1214 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) CTGCAGGTAAGGCTAAAAGAA 0.353000 4 24 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24551732 24551732 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:24551732C>T ENST00000535378.1 - 21 3585 c.2943G>A c.(2941-2943)agG>agA p.R981R KIAA0319_ENST00000378214.3_Silent_p.R990R|KIAA0319_ENST00000430948.2_Silent_p.R945R|KIAA0319_ENST00000543707.1_Silent_p.R990R|KIAA0319_ENST00000537886.1_Intron NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 990 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 TTGTTTTTTTCCTGATTTTAG 0.398000 11 29 0 0 1 0 0 MMP26 56547 broad.mit.edu 37 11 5011056 5011056 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:5011056C>T ENST00000380390.1 + 3 494 c.278C>T c.(277-279)tCg>tTg p.S93L MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Missense_Mutation_p.S93L Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 93 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) ACCTCCATCTCGCCAGGAAGA 0.517000 6 27 0 0 1 0 0 ACKR2 1238 broad.mit.edu 37 3 42906852 42906852 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:42906852C>T ENST00000422265.1 + 3 1033 c.858C>T c.(856-858)gtC>gtT p.V286V ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000273145.2_Silent_p.V286V|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Silent_p.V286V|KRBOX1_ENST00000426937.1_Intron NM_001296.4 NP_001287.2 atypical chemokine receptor 2 ACTGTGAGGTCAGCCAGCATC 0.532000 56 189 0 0 1 0 0 PRPSAP2 5636 broad.mit.edu 37 17 18785943 18785943 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:18785943C>T ENST00000268835.2 + 7 758 c.475C>T c.(475-477)Cct>Tct p.P159S PRPSAP2_ENST00000419071.2_Missense_Mutation_p.P119S|PRPSAP2_ENST00000536323.1_Missense_Mutation_p.P73S|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.P159S NM_002767.3 NP_002758.1 O60256 KPRB_HUMAN phosphoribosyl pyrophosphate synthetase-associated protein 2 159 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 CTTCAATATTCCTGTTGACAA 0.318000 42 161 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149497220 149497220 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:149497220G>A ENST00000261799.4 - 22 3567 c.3098C>T c.(3097-3099)gCt>gTt p.A1033V NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 1033 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GCCCTCGTCAGCAACCTCGGG 0.602000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 17 61 0 0 1 0 0 LRIT1 26103 broad.mit.edu 37 10 85992449 85992449 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:85992449C>T ENST00000372105.3 - 4 1127 c.1106G>A c.(1105-1107)gGg>gAg p.G369E NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 369 integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 AGCAGCTTCCCCTCCGCCACC 0.582000 3 20 0 0 1 0 0 KIRREL 55243 broad.mit.edu 37 1 158059362 158059362 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:158059362G>A ENST00000368172.1 + 5 569 c.557G>A c.(556-558)cGg>cAg p.R186Q KIRREL_ENST00000359209.6_Missense_Mutation_p.R372Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.R388Q|KIRREL_ENST00000392272.2_Missense_Mutation_p.R269Q|KIRREL_ENST00000360089.4_Missense_Mutation_p.R208Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.R272Q Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 372 Ig-like C2-type 2. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) TACACCTGCCGGGCCATCGTG 0.657000 26 100 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921522 24921522 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:24921522G>A ENST00000329468.2 + 1 982 c.508G>A c.(508-510)Gaa>Aaa p.E170K NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GGTGCAGATCGAAGGGGAGGA 0.617000 11 29 0 0 1 0 0 DNAH6 1768 broad.mit.edu 37 2 84800702 84800702 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:84800702C>T ENST00000389394.3 + 12 2052 c.1915C>T c.(1915-1917)Cag>Tag p.Q639* DNAH6_ENST00000237449.6_Nonsense_Mutation_p.Q639*|DNAH6_ENST00000398278.2_Nonsense_Mutation_p.Q639* NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 639 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 TCTTAAACTTCAGGAACCTGG 0.378000 13 59 0 0 1 0 0 GAPDH 2597 broad.mit.edu 37 12 6644008 6644008 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:6644008G>A ENST00000229239.5 + 2 676 c.10G>A c.(10-12)Gtg>Atg p.V4M GAPDH_ENST00000396861.1_Missense_Mutation_p.V4M|GAPDH_ENST00000396856.1_5'UTR|GAPDH_ENST00000396859.1_Missense_Mutation_p.V4M NM_002046.4 NP_002037.2 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 4 Interaction with WARS. gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4) 7 NADH(DB00157) CATGGGGAAGGTGAAGGTCGG 0.701000 8 60 0 0 1 0 0 IPO8 10526 broad.mit.edu 37 12 30805971 30805971 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:30805971G>A ENST00000256079.4 - 18 2342 c.2004C>T c.(2002-2004)tcC>tcT p.S668S IPO8_ENST00000544829.1_Silent_p.S463S NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 668 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) ACATTTGAGGGGAAATACTGT 0.353000 11 52 0 0 1 0 0 XPNPEP3 63929 broad.mit.edu 37 22 41322333 41322333 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:41322333G>A ENST00000357137.4 + 10 1502 c.1418G>A c.(1417-1419)cGa>cAa p.R473Q XPNPEP3_ENST00000544094.1_Missense_Mutation_p.R450Q NM_022098.3 NP_071381.1 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, putative 473 cellular process mitochondrion aminopeptidase activity|manganese ion binding|metallopeptidase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 CTTGGTGTACGAATTGAGGAT 0.448000 38 201 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10090678 10090678 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:10090678C>T ENST00000264828.3 - 36 2735 c.2650G>A c.(2650-2652)Ggc>Agc p.G884S NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 884 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) ACAGGGGGGCCCTTTGGCCCA 0.607000 4 28 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580620 140580620 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140580620G>A ENST00000354757.3 + 1 1273 c.1273G>A c.(1273-1275)Gac>Aac p.D425N PCDHB11_ENST00000536699.1_Missense_Mutation_p.D60N NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 425 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACCGTCACCGACTTGGGGAT 0.507000 31 91 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103403 53103403 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:53103403G>A ENST00000408890.4 + 1 55 c.39G>A c.(37-39)ggG>ggA p.G13G NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 13 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CAGACCTCGGGAACTTCTGGA 0.701000 16 12 0 0 1 0 0 SPNS2 124976 broad.mit.edu 37 17 4436570 4436570 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:4436570G>A ENST00000329078.3 + 8 1331 c.1121G>A c.(1120-1122)gGa>gAa p.G374E NM_001124758.1 NP_001118230.1 Q8IVW8 SPNS2_HUMAN spinster homolog 2 (Drosophila) 374 lipid transport|transmembrane transport integral to membrane large_intestine(3)|lung(1)|prostate(1)|skin(1) 6 TGCTTTACGGGATTTCTGGGC 0.667000 9 41 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361202 70361202 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:70361202G>A ENST00000305107.6 - 1 424 c.378C>T c.(376-378)ttC>ttT p.F126F UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Silent_p.F126F NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 126 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TATCCTTACAGAACTTTCTAA 0.353000 4 13 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103698491 103698491 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr13:103698491C>T ENST00000245312.3 - 6 1635 c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 347 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GTCTACTTTTCGTCAGGTTGA 0.373000 20 39 0 0 1 0 0 NMUR1 10316 broad.mit.edu 37 2 232390018 232390018 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:232390018G>A ENST00000305141.4 - 3 1150 c.1017C>T c.(1015-1017)gtC>gtT p.V339V NM_006056.4 NP_006047.3 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 339 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1) 24 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) TGCCGGAGATGACGTGCACGT 0.642000 25 91 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38938553 38938553 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:38938553G>A ENST00000302328.3 - 14 2384 c.2186C>T c.(2185-2187)tCc>tTc p.S729F SCN11A_ENST00000444237.2_Missense_Mutation_p.S729F|SCN11A_ENST00000456224.3_Missense_Mutation_p.S729F|SCN11A_ENST00000450244.1_Missense_Mutation_p.S729F NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 729 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ACTCTTTTGGGAATTGAAGCT 0.498000 4 41 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158325322 158325322 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:158325322G>A ENST00000444681.2 + 2 584 c.291G>A c.(289-291)ggG>ggA p.G97G CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368167.3_Silent_p.G196G|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368160.3_Silent_p.G196G|CD1E_ENST00000368163.3_Silent_p.G196G|CD1E_ENST00000434258.1_Silent_p.G194G|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368161.3_Silent_p.G196G|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368165.3_Intron NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 196 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) TTCTAGCGGGGCTCATGGAAG 0.478000 27 16 0 0 1 0 0 SPPL2C 162540 broad.mit.edu 37 17 43922996 43922996 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:43922996G>A ENST00000329196.5 + 1 741 c.724G>A c.(724-726)Gaa>Aaa p.E242K MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 242 integral to membrane aspartic-type endopeptidase activity AGCCCAGAAGGAAGATAATGA 0.612000 16 102 0 0 1 0 0 CYP2S1 29785 broad.mit.edu 37 19 41712264 41712264 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:41712264C>T ENST00000310054.4 + 9 1602 c.1386C>T c.(1384-1386)tcC>tcT p.S462S CYP2S1_ENST00000542619.1_Silent_p.S187S NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 462 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 AAGCCTTCTCCCTGGAGAGCC 0.612000 23 139 0 0 1 0 0 ZNF439 90594 broad.mit.edu 37 19 11979244 11979244 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:11979244C>T ENST00000304030.2 + 3 1560 c.1360C>T c.(1360-1362)Cga>Tga p.R454* ZNF439_ENST00000455282.1_Nonsense_Mutation_p.R318*|ZNF439_ENST00000592534.1_Intron NM_152262.2 NP_689475.1 Q8NDP4 ZN439_HUMAN zinc finger protein 439 454 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R454*(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2) 27 CTCACAACTTCGAATCCATCG 0.428000 10 29 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90322045 90322045 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:90322045C>T ENST00000469640.2 + 27 4509 c.4134C>T c.(4132-4134)ttC>ttT p.F1378F DAPK1_ENST00000491893.1_Silent_p.F1287F|DAPK1_ENST00000358077.5_Silent_p.F1353F|DAPK1_ENST00000472284.1_Silent_p.F1353F|DAPK1_ENST00000408954.3_Silent_p.F1353F P53355 DAPK1_HUMAN death-associated protein kinase 1 1353 Death. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 CCAAGGATTTCCTCCCCAGCC 0.637000 Chronic Lymphocytic Leukemia, Familial Clustering of 42 45 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193185208 193185208 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:193185208C>T ENST00000342695.4 - 10 1333 c.1011G>A c.(1009-1011)caG>caA p.Q337Q ATP13A4_ENST00000295548.3_Silent_p.Q337Q|ATP13A4_ENST00000392443.3_Silent_p.Q337Q NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 337 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CCGCTTCACTCTGTGTTTTCC 0.502000 22 66 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13414696 13414696 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:13414696G>A ENST00000360228.5 - 16 1988 c.1989C>T c.(1987-1989)atC>atT p.I663I CACNA1A_ENST00000573710.2_Silent_p.I664I NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 664 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CGCCCGTCAGGATCTGAAAGG 0.602000 38 117 0 0 1 0 0 SPP2 6694 broad.mit.edu 37 2 234967584 234967584 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:234967584C>T ENST00000168148.3 + 3 403 c.315C>T c.(313-315)ttC>ttT p.F105F SPP2_ENST00000373368.1_Silent_p.F105F NM_006944.2 NP_008875.1 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa 105 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) CATGTGCCTTCCAGAGGGACT 0.478000 11 31 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39425173 39425173 + Missense_Mutation SNP A A T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr13:39425173A>T ENST00000280481.7 + 10 6886 c.6670A>T c.(6670-6672)Agc>Tgc p.S2224C NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2224 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) CACTCCACAAAGCAACTCTCC 0.468000 15 61 0 0 1 0 0 IGLV3-25 28793 broad.mit.edu 37 22 23029622 23029622 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:23029622G>A ENST00000390305.2 + 0 267 AGGCCCTCAGGGATCCCTGAG 0.517000 34 53 0 0 1 0 0 KRT6C 286887 broad.mit.edu 37 12 52863006 52863006 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:52863006C>T ENST00000252250.6 - 9 1582 c.1535G>A c.(1534-1536)gGa>gAa p.G512E NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 512 Tail. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) GTAGCTGCTTCCTCCACCCAG 0.617000 15 37 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208432 140208432 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140208432C>T ENST00000529310.1 + 1 870 c.756C>T c.(754-756)ttC>ttT p.F252F PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.F252F|PCDHA4_ENST00000530339.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAAGAATATTCGAAAATGCAG 0.433000 18 70 0 0 1 0 0 KCNK13 56659 broad.mit.edu 37 14 90650906 90650906 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:90650906C>T ENST00000282146.4 + 2 1227 c.786C>T c.(784-786)ttC>ttT p.F262F NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 262 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) TTGCCAACTTCGTCTTCATCC 0.493000 24 79 0 0 1 0 0 LOC100130331 100130331 broad.mit.edu 37 1 238090746 238090746 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:238090746C>T ENST00000450451.1 + 0 2252 NR_027247.2 ACCACCTCGGCCCAGCGGGAG 0.617000 10 20 0 0 1 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64748646 64748646 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:64748646C>T ENST00000536360.1 - 5 1544 c.731G>A c.(730-732)aGa>aAa p.R244K Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 244 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) GCTCACTGATCTCTTCTGTCT 0.428000 24 85 0 0 1 0 0 AP3B1 8546 broad.mit.edu 37 5 77335072 77335072 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:77335072C>T ENST00000255194.6 - 23 2779 c.2604G>A c.(2602-2604)acG>acA p.T868T AP3B1_ENST00000519295.1_Silent_p.T819T|AP3B1_ENST00000523204.1_5'UTR NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 868 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) CGTGAGTTTTCGTTGGTACAA 0.363000 Hermansky-Pudlak syndrome 19 56 0 0 1 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58021583 58021583 + Missense_Mutation SNP C C A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:58021583C>A ENST00000341156.4 - 10 1786 c.1202G>T c.(1201-1203)aGc>aTc p.S401I B4GALNT1_ENST00000418555.2_Missense_Mutation_p.S346I NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 401 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GGGCTCCACGCTCAGCAGCTG 0.711000 3 11 1 1 1 1 0 NRP1 8829 broad.mit.edu 37 10 33502473 33502473 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:33502473G>A ENST00000265371.4 - 10 1980 c.1455C>T c.(1453-1455)ctC>ctT p.L485L NRP1_ENST00000466932.1_5'UTR|NRP1_ENST00000374823.5_Silent_p.L485L|NRP1_ENST00000374816.3_Silent_p.L485L|NRP1_ENST00000374821.5_Silent_p.L485L|NRP1_ENST00000374822.4_Silent_p.L485L|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000395995.1_Silent_p.L485L|NRP1_ENST00000374867.2_Silent_p.L485L O14786 NRP1_HUMAN neuropilin 1 485 F5/8 type C 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) GGTCTATTTGGAGCCACTCAT 0.537000 32 80 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122003792 122003792 + Silent SNP C C T rs142305357 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:122003792C>T ENST00000498619.1 + 7 3459 c.3021C>T c.(3019-3021)tcC>tcT p.S1007S CASR_ENST00000296154.5_Silent_p.S997S|CASR_ENST00000490131.1_Silent_p.S997S NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 997 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity p.S997S(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) ACCAGAACTCCCTGGAGGCCC 0.567000 13 47 0 0 1 0 0 TMEM89 440955 broad.mit.edu 37 3 48659055 48659055 + Silent SNP C C A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:48659055C>A ENST00000330862.3 - 1 233 c.135G>T c.(133-135)gtG>gtT p.V45V NM_001008269.1 NP_001008270.1 A2RUT3 TMM89_HUMAN transmembrane protein 89 45 integral to membrane breast(1)|lung(1)|stomach(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) TACAGCCCTCCACACTCTTTG 0.657000 13 47 0.00244969 0.00245554 1 1 0 NPSR1 387129 broad.mit.edu 37 7 34698133 34698133 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:34698133G>A ENST00000360581.1 + 1 237 c.109G>A c.(109-111)Gaa>Aaa p.E37K NPSR1_ENST00000381542.1_Missense_Mutation_p.E37K|NPSR1_ENST00000465305.1_Missense_Mutation_p.E37K|AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000531252.1_Missense_Mutation_p.E37K|NPSR1_ENST00000381553.3_Missense_Mutation_p.E37K|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381539.3_Missense_Mutation_p.E37K|NPSR1_ENST00000359791.1_Missense_Mutation_p.E37K NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 37 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) TGAAGTGGTGGAAGGAAAGGA 0.483000 35 53 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21932218 21932218 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:21932218C>T ENST00000328843.6 + 78 12735 c.12704C>T c.(12703-12705)aCt>aTt p.T4235I DNAH11_ENST00000409508.3_Missense_Mutation_p.T4228I Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4235 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CTCTTCAGAACTTTGCTGGAG 0.473000 Kartagener syndrome 24 38 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33739544 33739544 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr13:33739544G>A ENST00000336934.5 - 3 369 c.253C>T c.(253-255)Ccc>Tcc p.P85S STARD13_ENST00000255486.4_Missense_Mutation_p.P77S|STARD13_ENST00000399365.3_5'UTR|STARD13_ENST00000487412.1_5'UTR NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 85 SAM. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) ATGTTGATGGGAAATTGTGAA 0.363000 9 35 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834386 101834386 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:101834386G>A ENST00000506729.1 - 1 334 c.163C>T c.(163-165)Cca>Tca p.P55S SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P55S|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P55S|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P55S|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P55S Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 55 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AAGGCCTCTGGAAGTAGTCTC 0.572000 58 227 0 0 1 0 0 FCRL6 343413 broad.mit.edu 37 1 159784043 159784043 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:159784043G>A ENST00000321935.6 + 9 1215 c.1129G>A c.(1129-1131)Gtc>Atc p.V377I FCRL6_ENST00000392235.3_Missense_Mutation_p.V275I|FCRL6_ENST00000368106.3_Missense_Mutation_p.V370I|FCRL6_ENST00000339348.5_Missense_Mutation_p.V370I Q6DN72 FCRL6_HUMAN Fc receptor-like 6 370 integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) TGAAGGTGTTGTCTACTCTGT 0.458000 15 106 0 0 1 0 0 CHSY1 22856 broad.mit.edu 37 15 101718472 101718472 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:101718472G>A ENST00000254190.3 - 3 2005 c.1530C>T c.(1528-1530)tcC>tcT p.S510S CHSY1_ENST00000543813.1_5'UTR NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 510 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GCTTCTTCAGGGAGTTTGAGA 0.463000 19 56 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1260795 1260795 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:1260795C>T ENST00000348261.5 + 21 4295 c.4047C>T c.(4045-4047)gcC>gcT p.A1349A CACNA1H_ENST00000565831.1_Silent_p.A1349A|CACNA1H_ENST00000358590.4_Silent_p.A1349A NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1349 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) AGGTGGTGGCCCTGGGGCTGC 0.692000 8 43 0 0 1 0 0 GPR162 27239 broad.mit.edu 37 12 6933591 6933591 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:6933591G>A ENST00000311268.3 + 2 1314 c.527G>A c.(526-528)gGc>gAc p.G176D GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 176 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 TCCAAGATCGGCCTCGGCTTT 0.582000 23 65 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153594422 153594422 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:153594422G>A ENST00000422373.1 - 9 1647 c.1399C>T c.(1399-1401)Cgc>Tgc p.R467C FLNA_ENST00000360319.4_Missense_Mutation_p.R467C|FLNA_ENST00000369850.3_Missense_Mutation_p.R467C|FLNA_ENST00000344736.4_Missense_Mutation_p.R467C NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 467 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) TAGGGGCTGCGAGGGATGGGC 0.687000 15 25 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79355727 79355727 + Splice_Site SNP A A G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:79355727A>G ENST00000350881.2 + 7 1176 c.987_splice c.e7+1 p.E329_splice THBS4_ENST00000511733.1_Splice_Site_p.E238_splice|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 329 EGF-like 2; calcium-binding (Potential). endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GATGTTGATGAGGTAAAAGTT 0.512000 37 95 0 0 1 0 0 ABCE1 6059 broad.mit.edu 37 4 146030294 146030294 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:146030294C>T ENST00000296577.4 + 5 813 c.298C>T c.(298-300)Cct>Tct p.P100S ABCE1_ENST00000502803.1_Intron NM_001040876.1|NM_002940.2 NP_001035809.1|NP_002931.2 P61221 ABCE1_HUMAN ATP-binding cassette, sub-family E (OABP), member 1 100 ABC transporter 1. interspecies interaction between organisms|response to virus|RNA catabolic process mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3) 18 all_hematologic(180;0.151) GTTGCCTATCCCTCGTCCAGG 0.343000 18 79 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20896278 20896278 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:20896278C>T ENST00000381552.1 + 13 2141 c.1773C>T c.(1771-1773)atC>atT p.I591I SLCO1C1_ENST00000266509.2_Silent_p.I591I|SLCO1C1_ENST00000540354.1_Silent_p.I542I|SLCO1C1_ENST00000545604.1_Silent_p.I591I|SLCO1C1_ENST00000545102.1_Silent_p.I473I Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 591 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CCTTGGGTATCTACACATTAG 0.299000 21 106 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7269837 7269837 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:7269837G>A ENST00000361972.4 - 10 1273 c.1183C>T c.(1183-1185)Cct>Tct p.P395S SFMBT2_ENST00000397167.1_Missense_Mutation_p.P395S NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 395 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 CAGAAGGGAGGGGCTTCCTGC 0.413000 16 74 0 0 1 0 0 HLA-DQA1 3117 broad.mit.edu 37 6 32609190 32609190 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:32609190G>A ENST00000343139.5 + 2 288 c.186G>A c.(184-186)ctG>ctA p.L62L HLA-DQA1_ENST00000374949.2_Silent_p.L62L|HLA-DQA1_ENST00000395363.1_Silent_p.L62L NM_002122.3 NP_002113.2 P01909 DQA1_HUMAN major histocompatibility complex, class II, DQ alpha 1 62 Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 ACGTGGACCTGGAGAGGAAGG 0.517000 31 58 0 0 1 0 0 CNKSR1 10256 broad.mit.edu 37 1 26515291 26515291 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:26515291G>A ENST00000531191.1 + 19 1952 c.945G>A c.(943-945)atG>atA p.M315I CNKSR1_ENST00000361530.6_Missense_Mutation_p.M573I|CNKSR1_ENST00000374253.5_Missense_Mutation_p.M580I Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 580 Pro-rich. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) TGGAAGGAATGGTACGGGGGC 0.657000 17 83 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159519586 159519586 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:159519586C>T ENST00000389757.3 + 14 2514 c.2389C>T c.(2389-2391)Ccg>Tcg p.P797S PKP4_ENST00000495123.1_3'UTR|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.P797S NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 797 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 AAAGAGGACTCCGCAAGAAGA 0.378000 HNSCC(62;0.18) 10 24 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71007302 71007302 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:71007302C>T ENST00000354624.5 + 9 1351 c.1218C>T c.(1216-1218)ctC>ctT p.L406L HKDC1_ENST00000395086.2_Silent_p.L406L|HKDC1_ENST00000488706.1_3'UTR NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 406 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 TGGAACGGCTCCGGACCACAG 0.612000 15 49 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149528223 149528223 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:149528223G>A ENST00000378016.2 + 0 15142 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCTCCCCACAGAGGAGCAGTC 0.622000 18 24 0 0 1 0 0 ARFIP1 27236 broad.mit.edu 37 4 153809310 153809310 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:153809310G>A ENST00000451320.2 + 8 981 c.817G>A c.(817-819)Gat>Aat p.D273N ARFIP1_ENST00000429148.2_Missense_Mutation_p.D93N|ARFIP1_ENST00000353617.2_Missense_Mutation_p.D273N|ARFIP1_ENST00000405727.2_Missense_Mutation_p.D241N|ARFIP1_ENST00000356064.3_Missense_Mutation_p.D241N P53367 ARFP1_HUMAN ADP-ribosylation factor interacting protein 1 273 AH. intracellular protein transport|regulation of protein secretion cytosol|Golgi membrane ARFIP1/FHDC1(2) cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(180;0.093) ATATCGCACTGATTTGGAAGA 0.383000 8 49 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105798285 105798285 + Splice_Site SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:105798285C>T ENST00000353479.5 - 45 3239 c.2947_splice c.e45-1 p.G983_splice COL17A1_ENST00000369733.3_Splice_Site_p.G938_splice NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 983 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TTGATGATCCCCCTGCAGCAA 0.612000 25 116 0 0 1 0 0 RGS6 9628 broad.mit.edu 37 14 72961922 72961922 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:72961922C>T ENST00000553530.1 + 13 1124 c.917C>T c.(916-918)tCc>tTc p.S306F RGS6_ENST00000553525.1_Missense_Mutation_p.S306F|RGS6_ENST00000434263.2_Missense_Mutation_p.S237F|RGS6_ENST00000554782.1_Missense_Mutation_p.S167F|RGS6_ENST00000355512.6_Missense_Mutation_p.S306F|RGS6_ENST00000402788.2_Missense_Mutation_p.S306F|RGS6_ENST00000555571.1_Missense_Mutation_p.S306F|RGS6_ENST00000404301.2_Missense_Mutation_p.S306F|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000556437.1_Missense_Mutation_p.S306F|RGS6_ENST00000407322.4_Missense_Mutation_p.S306F|RGS6_ENST00000406236.4_Missense_Mutation_p.S306F NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 306 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) GCTGAGCCATCCAACCCTTGG 0.433000 16 78 0 0 1 0 0 OR51I1 390063 broad.mit.edu 37 11 5462079 5462079 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:5462079C>T ENST00000380211.1 - 1 665 c.666G>A c.(664-666)ttG>ttA p.L222L HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCTCAGGATCAATGCGTAGG 0.468000 5 28 0 0 1 0 0 CYP7B1 9420 broad.mit.edu 37 8 65509424 65509424 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:65509424C>T ENST00000310193.3 - 6 1469 c.1296G>A c.(1294-1296)ggG>ggA p.G432G CYP7B1_ENST00000523954.1_Intron NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 432 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) TCAGCTTTTTCCCTCTTTTGA 0.333000 13 25 0 0 1 0 0 NAALADL2 254827 broad.mit.edu 37 3 175189508 175189508 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:175189508C>T ENST00000454872.1 + 9 1743 c.1615C>T c.(1615-1617)Cct>Tct p.P539S NAALADL2_ENST00000473253.1_3'UTR NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 539 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) TAGTCTGTATCCTGTAGCATC 0.368000 9 15 0 0 1 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58189731 58189731 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:58189731C>T ENST00000318203.5 + 5 1457 c.760C>T c.(760-762)Cag>Tag p.Q254* NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 254 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGCTAGATCTCAGGAAGGGTC 0.507000 15 41 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807593 143807593 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:143807593G>A ENST00000408979.2 + 1 987 c.918G>A c.(916-918)agG>agA p.R306R NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) CACTCCAGAGGAAGAGGTCCA 0.433000 21 184 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101891702 101891702 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:101891702C>T ENST00000360264.3 + 24 3951 c.3931C>T c.(3931-3933)Cgc>Tgc p.R1311C CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.R1300C|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.R1142C|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R1198C|CUX1_ENST00000549414.2_Missense_Mutation_p.R1278C|CUX1_ENST00000550008.2_Missense_Mutation_p.R1244C|CUX1_ENST00000547394.2_Intron NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 1300 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GTCTCGGATCCGCAGAGAACT 0.687000 9 12 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36748261 36748261 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:36748261C>T ENST00000354618.5 + 3 321 c.97C>T c.(97-99)Cga>Tga p.R33* THRAP3_ENST00000469141.2_Nonsense_Mutation_p.R33* NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 33 Arg-rich.|Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GTCTCGGTCCCGAAGCCGATC 0.458000 T USP6 aneurysmal bone cysts 20 53 0 0 1 0 0 FAM168B 130074 broad.mit.edu 37 2 131840213 131840213 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:131840213G>A ENST00000409185.1 - 2 114 c.7C>T c.(7-9)Cct>Tct p.P3S FAM168B_ENST00000389915.3_Missense_Mutation_p.P3S NM_001009993.2 NP_001009993.2 A1KXE4 F168B_HUMAN family with sequence similarity 168, member B 3 endometrium(3)|lung(2) 5 CTATAAACAGGATTCATGATT 0.358000 5 11 0 0 1 0 0 WRAP53 55135 broad.mit.edu 37 17 7606599 7606599 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:7606599G>A ENST00000316024.5 + 10 3790 c.1442G>A c.(1441-1443)gGt>gAt p.G481D WRAP53_ENST00000431639.2_Missense_Mutation_p.G481D|WRAP53_ENST00000534050.1_Missense_Mutation_p.G448D|WRAP53_ENST00000396463.2_Missense_Mutation_p.G481D|WRAP53_ENST00000457584.2_Missense_Mutation_p.G481D Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 481 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 ACTGCCTCCGGTCAGCGTGTG 0.622000 18 51 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101168390 101168390 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:101168390C>T ENST00000259455.2 - 8 1729 c.1270G>A c.(1270-1272)Ggg>Agg p.G424R NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 424 G -> E (in Ref. 5; AAD30389). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) TTAATGGTCCCCATTCTCTCC 0.333000 11 50 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140285410 140285410 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:140285410G>A ENST00000275884.6 - 4 1641 c.1224C>T c.(1222-1224)tcC>tcT p.S408S DENND2A_ENST00000492720.1_Silent_p.S408S|DENND2A_ENST00000537639.1_Silent_p.S408S|DENND2A_ENST00000496613.1_Silent_p.S408S Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 408 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) TGTCAGGGATGGAAGAGGTGG 0.547000 27 177 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27101404 27101404 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:27101404C>T ENST00000324856.7 + 18 5057 c.4686C>T c.(4684-4686)ccC>ccT p.P1562P ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Silent_p.P1179P NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1562 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCCCTGTGCCCCCCATGACAA 0.617000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 19 36 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41410561 41410561 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:41410561G>A ENST00000551295.2 + 19 2379 c.2262G>A c.(2260-2262)tgG>tgA p.W754* CNTN1_ENST00000347616.1_Nonsense_Mutation_p.W754*|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.W743* NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 754 Fibronectin type-III 2. 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) GAGAAGAATGGAAAAAAGTCA 0.368000 10 52 0 0 1 0 0 MORC2 22880 broad.mit.edu 37 22 31328554 31328554 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:31328554C>T ENST00000215862.4 - 24 3902 c.2539G>A c.(2539-2541)Gac>Aac p.D847N MORC2_ENST00000397641.2_Missense_Mutation_p.D909N NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 909 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 ACAAGCAGGTCGATGGTCTCG 0.582000 8 72 0 0 1 0 0 FYTTD1 84248 broad.mit.edu 37 3 197495333 197495333 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:197495333C>T ENST00000241502.3 + 3 481 c.259C>T c.(259-261)Cgt>Tgt p.R87C FYTTD1_ENST00000428395.2_5'UTR|FYTTD1_ENST00000424384.2_Missense_Mutation_p.R20C|FYTTD1_ENST00000415708.2_Missense_Mutation_p.R61C NM_032288.6 NP_115664.2 Q96QD9 UIF_HUMAN forty-two-three domain containing 1 87 R -> H (in dbSNP:rs3205525). mRNA export from nucleus nuclear speck mRNA binding|protein binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.175) TAGTCTGAATCGTAGAGGAAG 0.403000 18 47 0 0 1 0 0 EXOC7 23265 broad.mit.edu 37 17 74093955 74093955 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:74093955G>A ENST00000607838.1 - 5 656 c.562C>T c.(562-564)Ctg>Ttg p.L188L EXOC7_ENST00000332065.5_Silent_p.L188L|EXOC7_ENST00000335146.7_Silent_p.L188L|EXOC7_ENST00000411744.2_Silent_p.L188L|EXOC7_ENST00000467929.2_Silent_p.L147L|EXOC7_ENST00000405575.4_Silent_p.L188L|EXOC7_ENST00000589210.1_Silent_p.L188L NM_001145297.2|NM_001145298.2|NM_001145299.2 NP_001138769.1|NP_001138770.1|NP_001138771.1 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 188 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) AGGTGCTCCAGGGTCACGTCC 0.602000 20 125 0 0 1 0 0 RASSF6 166824 broad.mit.edu 37 4 74450975 74450975 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:74450975C>T ENST00000307439.5 - 6 783 c.489G>A c.(487-489)agG>agA p.R163R RASSF6_ENST00000395777.2_Silent_p.R163R|RASSF6_ENST00000342081.3_Silent_p.R195R|RASSF6_ENST00000335049.5_Silent_p.R151R NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 195 S -> P (in dbSNP:rs12507775). apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GAGGCTTCATCCTTTTTCTCA 0.413000 20 79 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92531469 92531469 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:92531469G>A ENST00000298047.6 + 9 5307 c.5290G>A c.(5290-5292)Gat>Aat p.D1764N FAT3_ENST00000409404.2_Missense_Mutation_p.D1764N|FAT3_ENST00000525166.1_Missense_Mutation_p.D1614N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1764 Cadherin 15. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGATGAAAATGATAATGCCCC 0.433000 TCGA Ovarian(4;0.039) 13 35 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194080729 194080729 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:194080729G>A ENST00000347624.3 - 2 1129 c.1044C>T c.(1042-1044)ctC>ctT p.L348L LRRC15_ENST00000428839.1_Silent_p.L354L|LRRC15_ENST00000439944.2_Silent_p.L354L NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 348 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) CGTTGGTGTGGAGGGACAGCT 0.597000 10 35 0 0 1 0 0 HSD3B1 3283 broad.mit.edu 37 1 120056697 120056697 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:120056697C>T ENST00000235547.6 + 4 696 c.557C>T c.(556-558)gCc>gTc p.A186V HSD3B1_ENST00000528909.1_Missense_Mutation_p.A184V|HSD3B1_ENST00000369413.3_Missense_Mutation_p.A184V NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 184 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 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) TACACTTGTGCCTTACGACCC 0.512000 20 83 0 0 1 0 0 CLEC4M 10332 broad.mit.edu 37 19 7828363 7828363 + Splice_Site SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:7828363G>A ENST00000327325.5 + 2 248 c.e2+1 CLEC4M_ENST00000596707.1_Splice_Site|CLEC4M_ENST00000595496.1_Splice_Site|CLEC4M_ENST00000597522.1_Splice_Site|CLEC4M_ENST00000394122.2_Splice_Site|CLEC4M_ENST00000359059.5_Splice_Site|CLEC4M_ENST00000357361.2_Splice_Site|CLEC4M_ENST00000248228.4_Splice_Site|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000596363.1_Intron NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 AGCTCTACAGGTAGGCAAGAG 0.512000 18 45 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152280503 152280503 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:152280503C>T ENST00000368799.1 - 3 6894 c.6859G>A c.(6859-6861)Gaa>Aaa p.E2287K FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2287 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTCTGTCTTCGTGATGGGAC 0.552000 Ichthyosis 81 586 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24491904 24491904 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:24491904C>T ENST00000264463.4 - 11 2164 c.1657G>A c.(1657-1659)Gga>Aga p.G553R CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 553 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CTATTGAATCCATTTTTTCTG 0.358000 HNSCC(23;0.051) 5 12 0 0 1 0 0 C4B 721 broad.mit.edu 37 6 31996603 31996603 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:31996603C>T ENST00000435363.2 + 26 3448 c.3364C>T c.(3364-3366)Cca>Tca p.P1122S C4B_ENST00000425700.2_Missense_Mutation_p.P1122S NM_001002029.3 NP_001002029.3 P0C0L5 CO4B_HUMAN complement component 4B (Chido blood group) 1122 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity GGACCTCTCTCCAGTGATACA 0.612000 23 68 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62212824 62212824 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:62212824C>T ENST00000519846.1 + 3 910 c.438C>T c.(436-438)gcC>gcT p.A146A CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Silent_p.A146A Q8IUQ0 CLVS1_HUMAN clavesin 1 146 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.A146A(1) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TGTTTGCAGCCAATTGGGATC 0.448000 16 41 0 0 1 0 0 EFNB3 1949 broad.mit.edu 37 17 7611328 7611328 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:7611328G>A ENST00000226091.2 + 2 572 c.175G>A c.(175-177)Gac>Aac p.D59N NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 59 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) GGACCGGCTAGACCTGCTCTG 0.617000 25 82 0 0 1 0 0 CC2D2B 387707 broad.mit.edu 37 10 97779544 97779544 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:97779544C>T ENST00000344386.3 + 8 907 c.743C>T c.(742-744)cCa>cTa p.P248L ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|CC2D2B_ENST00000410012.2_Missense_Mutation_p.P248L|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000371198.2_Intron NM_001001732.3 NP_001001732.2 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B 248 large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1) 10 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) CAGTTGCTTCCAAAAAACGTT 0.323000 37 115 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17120113 17120113 + Splice_Site SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:17120113C>T ENST00000443236.1 - 6 676 c.645_splice c.e6+1 p.L215_splice CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Splice_Site_p.L168_splice NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 168 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GGCCACTCACCAGGATGTAGG 0.552000 31 125 0 0 1 0 0 MAP10 54627 broad.mit.edu 37 1 232942095 232942095 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:232942095C>T ENST00000418460.1 + 1 1453 c.1326C>T c.(1324-1326)tgC>tgT p.C442C NM_019090.2 NP_061963.2 microtubule-associated protein 10 ATATATTTTGCCCTCCTCCTT 0.443000 193 154 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55540733 55540733 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:55540733G>A ENST00000220676.1 + 4 4439 c.4291G>A c.(4291-4293)Gaa>Aaa p.E1431K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1431 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.E1431K(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GTTTCAGGATGAAAATGCATA 0.373000 4 49 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128496964 128496964 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:128496964G>A ENST00000325888.8 + 45 7811 c.7550G>A c.(7549-7551)gGa>gAa p.G2517E RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.G2484E NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2517 Interaction with INPPL1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GGGCTCGAGGGAGGCACTACC 0.647000 8 54 0 0 1 0 0 CYLC2 1539 broad.mit.edu 37 9 105767475 105767475 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:105767475G>A ENST00000374798.3 + 5 632 c.562G>A c.(562-564)Gat>Aat p.D188N CYLC2_ENST00000487798.1_Missense_Mutation_p.D188N NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 188 3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) tgcaaagaaagataacaaaaa 0.368000 17 23 0 0 1 0 0 OR52B4 143496 broad.mit.edu 37 11 4388918 4388918 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:4388918G>A ENST00000408920.2 - 1 698 c.608C>T c.(607-609)tCc>tTc p.S203F NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) CATTAGAATGGAAAACCCATA 0.383000 14 44 0 0 1 0 0 FAM212B 55924 broad.mit.edu 37 1 112270131 112270131 + Missense_Mutation SNP G G A rs145633487 byFrequency TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:112270131G>A ENST00000357260.5 - 2 534 c.353C>T c.(352-354)cCc>cTc p.P118L FAM212B_ENST00000444059.2_Missense_Mutation_p.P103L|FAM212B_ENST00000534365.1_Intron NM_019099.4 NP_061972.1 Q9NTI7 CA183_HUMAN family with sequence similarity 212, member B 118 cervix(1)|endometrium(1) 2 CCTGGGCAAGGGGGCTAAATC 0.597000 17 61 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10249208 10249208 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:10249208G>A ENST00000340748.4 - 34 4209 c.3974C>T c.(3973-3975)cCt>cTt p.P1325L DNMT1_ENST00000359526.4_Missense_Mutation_p.P1341L|DNMT1_ENST00000540357.1_Missense_Mutation_p.P1325L P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 1325 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CGGGAACAGAGGGAGCTTCTC 0.642000 12 57 0 0 1 0 0 GPR162 27239 broad.mit.edu 37 12 6935885 6935885 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:6935885C>T ENST00000311268.3 + 5 2070 c.1283C>T c.(1282-1284)tCc>tTc p.S428F GPR162_ENST00000428545.2_Missense_Mutation_p.S144F|GPR162_ENST00000382315.3_Missense_Mutation_p.S124F NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 428 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 GAACCAGGCTCCTTCCTGCAC 0.612000 36 114 0 0 1 0 0 ZNF287 57336 broad.mit.edu 37 17 16470905 16470905 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:16470905G>A ENST00000395824.1 - 2 758 c.141C>T c.(139-141)acC>acT p.T47T ZNF287_ENST00000395825.3_Silent_p.T47T Q9HBT7 ZN287_HUMAN zinc finger protein 287 40 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TCTGTCGACAGGTCTCAGTGT 0.478000 18 81 0 0 1 0 0 DSPP 1834 broad.mit.edu 37 4 88533578 88533578 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:88533578G>A ENST00000399271.1 + 4 360 c.240G>A c.(238-240)ggG>ggA p.G80G RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Silent_p.G80G NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 80 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) AGGGAGAAGGGAATGGCTCTA 0.468000 9 21 0 0 1 0 0 MTR 4548 broad.mit.edu 37 1 237052585 237052585 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:237052585G>A ENST00000366577.5 + 28 3350 c.2956G>A c.(2956-2958)Ggc>Agc p.G986S MTR_ENST00000535889.1_Missense_Mutation_p.G935S NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 986 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) GCAGCTCCGGGGCAAGTACCC 0.488000 16 126 0 0 1 0 0 SNORD114-26 767606 broad.mit.edu 37 14 101453438 101453438 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:101453438G>A ENST00000363543.1 + 0 56 NR_003219.1 ATACGTGTCTGGAACTCTGAG 0.383000 16 79 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 176566 176566 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:176566C>T ENST00000538872.1 + 1 636 c.518C>T c.(517-519)tCc>tTc p.S173F IQSEC3_ENST00000326261.4_Missense_Mutation_p.S173F Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 173 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) AAATCCCCCTCCGCCCTCGGC 0.642000 6 50 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9087897 9087897 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:9087897C>T ENST00000397910.4 - 1 4121 c.3918G>A c.(3916-3918)gaG>gaA p.E1306E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1306 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 GAGCTGTCATCTCAGGTGAAG 0.493000 17 64 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 20940837 20940837 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:20940837G>A ENST00000298925.5 + 8 953 c.800G>A c.(799-801)gGa>gAa p.G267E NELL1_ENST00000357134.5_Missense_Mutation_p.G239E|NELL1_ENST00000532434.1_Missense_Mutation_p.G239E|NELL1_ENST00000325319.5_Missense_Mutation_p.G182E Q92832 NELL1_HUMAN NEL-like 1 (chicken) 239 cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 CTGGTGCAAGGAATAATGGAT 0.303000 13 64 0 0 1 0 0 ANKH 56172 broad.mit.edu 37 5 14871551 14871551 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:14871551C>T ENST00000284268.6 - 1 336 c.6G>A c.(4-6)gtG>gtA p.V2V NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 2 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 CCGGGAATTTCACCATAGTCC 0.692000 9 29 0 0 1 0 0 TRBV28 28559 broad.mit.edu 37 7 142428785 142428785 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:142428785G>A ENST00000390400.2 + 0 165 TATGGACCATGAAAATATGTT 0.433000 35 40 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256633 140256633 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140256633G>A ENST00000398631.2 + 1 1576 c.1576G>A c.(1576-1578)Gag>Aag p.E526K PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTAGACCACGAGGAGCTGGA 0.692000 45 165 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 67862928 67862928 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:67862928C>T ENST00000433211.1 - 14 2138 c.1964G>A c.(1963-1965)gGg>gAg p.G655E CTNNA3_ENST00000373744.4_Missense_Mutation_p.G655E NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 655 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 ATCAGTTTTCCCTTCGGTCTG 0.488000 11 40 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197391068 197391068 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:197391068G>A ENST00000367397.1 + 2 1111 c.253G>A c.(253-255)Ggc>Agc p.G85S CRB1_ENST00000538660.1_Missense_Mutation_p.G704S|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.G592S|CRB1_ENST00000544212.1_Missense_Mutation_p.G185S|CRB1_ENST00000535699.1_Missense_Mutation_p.G635S|CRB1_ENST00000367400.3_Missense_Mutation_p.G704S P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 704 EGF-like 2. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GCCCTATGAAGGCCCCAACTG 0.517000 35 54 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5424222 5424222 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:5424222C>T ENST00000262467.5 - 14 4479 c.3906G>A c.(3904-3906)ggG>ggA p.G1302G NLRP1_ENST00000572272.1_Silent_p.G1298G|NLRP1_ENST00000269280.4_Intron|NLRP1_ENST00000577119.1_Intron|NLRP1_ENST00000354411.3_Silent_p.G1268G|NLRP1_ENST00000345221.3_Intron NM_001033053.2 NP_001028225.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 1298 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) TTTCCAGCATCCCTGAACCAG 0.532000 3 7 0 0 1 0 0 DHRS7B 25979 broad.mit.edu 37 17 21094340 21094340 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:21094340G>A ENST00000395511.3 + 7 1172 c.852G>A c.(850-852)aaG>aaA p.K284K DHRS7B_ENST00000579303.1_Silent_p.K269K|DHRS7B_ENST00000581463.1_Intron NM_015510.4 NP_056325.2 Q6IAN0 DRS7B_HUMAN dehydrogenase/reductase (SDR family) member 7B 284 integral to membrane|peroxisomal membrane binding|oxidoreductase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2) 7 GGAAGAAGAAGAAAGATGTGA 0.517000 41 139 0 0 1 0 0 DCT 1638 broad.mit.edu 37 13 95118855 95118855 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr13:95118855G>A ENST00000377028.5 - 3 1066 c.653C>T c.(652-654)aCc>aTc p.T218I DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Missense_Mutation_p.T218I NM_001922.3 NP_001913.2 P40126 TYRP2_HUMAN dopachrome tautomerase 218 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) CCGGTGCCAGGTAACAAATGC 0.373000 9 37 0 0 1 0 0 CD7 924 broad.mit.edu 37 17 80274706 80274706 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:80274706G>A ENST00000584284.1 - 2 315 c.234C>T c.(232-234)ccC>ccT p.P78P CD7_ENST00000312648.3_Silent_p.P78P|CD7_ENST00000578509.1_5'UTR|CD7_ENST00000583376.1_5'UTR P09564 CD7_HUMAN CD7 molecule 78 Ig-like. immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|membrane fraction|plasma membrane receptor activity endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667) TGTCCGTAGTGGGCACCACCC 0.632000 24 117 0 0 1 0 0 GYG2 8908 broad.mit.edu 37 X 2799122 2799122 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:2799122C>T ENST00000381163.3 + 12 1656 c.1374C>T c.(1372-1374)atC>atT p.I458I GYG2_ENST00000398806.3_Silent_p.I427I|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000542787.1_Silent_p.I387I|GYG2_ENST00000338623.5_Silent_p.I422I NM_001079855.1|NM_001184702.1|NM_003918.2 NP_001073324.1|NP_001171631.1|NP_003909.2 O15488 GLYG2_HUMAN glycogenin 2 458 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|soluble fraction glycogenin glucosyltransferase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTTCCCAGATCTCCATCGAAG 0.537000 5 9 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137707455 137707455 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:137707455C>T ENST00000371817.3 + 51 4462 c.4048C>T c.(4048-4050)Ccc>Tcc p.P1350S NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1350 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TCCTGGCCCCCCCGGAGAGCC 0.622000 12 18 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 73000569 73000569 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr18:73000569C>T ENST00000322038.5 + 2 3656 c.3072C>T c.(3070-3072)atC>atT p.I1024I TSHZ1_ENST00000580243.1_Silent_p.I1069I NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 1069 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) ACCACCTGATCTATGTGACTG 0.537000 15 104 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195516761 195516761 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:195516761G>A ENST00000463781.3 - 2 2149 c.1690C>T c.(1690-1692)Cag>Tag p.Q564* MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.Q564* NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 569 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.Q564K(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CATTGTGTCTGGGCGCCTGCC 0.552000 68 239 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179398708 179398708 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:179398708G>A ENST00000367618.3 + 13 1673 c.1286G>A c.(1285-1287)gGc>gAc p.G429D AXDND1_ENST00000457238.2_Missense_Mutation_p.G429D|AXDND1_ENST00000461179.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 429 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 AATGAAAAAGGCTGGAATAAA 0.323000 15 41 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40113090 40113090 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:40113090G>A ENST00000373233.3 - 15 2336 c.2159C>T c.(2158-2160)tCc>tTc p.S720F CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 720 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GGTCAGGAAGGAAAAGTTCTT 0.473000 69 125 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 18029019 18029019 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:18029019C>T ENST00000262608.8 + 16 3979 c.3979C>T c.(3979-3981)Ccc>Tcc p.P1327S CECR2_ENST00000400573.4_Missense_Mutation_p.P1326S|CECR2_ENST00000400585.2_Missense_Mutation_p.P1184S NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1368 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) GACGGGGCCTCCCTATACCCC 0.607000 42 76 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077333 19077333 + Missense_Mutation SNP A A T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:19077333A>T ENST00000329773.2 - 2 704 c.617T>A c.(616-618)cTg>cAg p.L206Q NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 206 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 GATCCTGACCAGCAGGGCCAG 0.547000 7 36 0 0 1 0 0 MPP2 4355 broad.mit.edu 37 17 41960589 41960589 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:41960589G>A ENST00000269095.4 - 4 589 c.285C>T c.(283-285)ctC>ctT p.L95L MPP2_ENST00000520305.1_5'UTR|MPP2_ENST00000536246.1_Silent_p.L84L|MPP2_ENST00000523501.1_Silent_p.L84L|MPP2_ENST00000518766.1_Silent_p.L140L|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000461854.1_Silent_p.L119L|MPP2_ENST00000377184.3_Silent_p.L112L NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 119 L27 2. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) GGGGCTCCTGGAGGATGTGGG 0.662000 3 9 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115351994 115351994 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:115351994G>A ENST00000369358.4 - 39 4871 c.4627C>T c.(4627-4629)Ccc>Tcc p.P1543S NRAP_ENST00000359988.3_Missense_Mutation_p.P1535S|NRAP_ENST00000360478.3_Missense_Mutation_p.P1500S|NRAP_ENST00000369360.3_Missense_Mutation_p.P1508S Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1535 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GTCTGGAAGGGGATGGCATCC 0.517000 8 58 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10930700 10930700 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:10930700C>T ENST00000314646.5 + 16 1880 c.1716C>T c.(1714-1716)atC>atT p.I572I DNM2_ENST00000585892.1_Silent_p.I572I|DNM2_ENST00000408974.4_Silent_p.I568I|DNM2_ENST00000389253.4_Silent_p.I572I|DNM2_ENST00000355667.6_Silent_p.I572I|DNM2_ENST00000359692.6_Silent_p.I568I P50570 DYN2_HUMAN dynamin 2 572 PH. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) ACCTCAAGATCCGTGATGTGG 0.577000 """F, N, Splice, Mis, O""" ETP ALL 34 119 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55118632 55118632 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:55118632C>T ENST00000414150.2 + 3 311 c.33C>T c.(31-33)ttC>ttT p.F11F MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Silent_p.F11F|MROH7_ENST00000421030.2_Silent_p.F11F|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000339553.5_Silent_p.F11F maestro heat-like repeat family member 7 ACCTGGTCTTCCATGAAGACC 0.602000 17 62 0 0 1 0 0 CCNI2 645121 broad.mit.edu 37 5 132086664 132086664 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:132086664G>A ENST00000378731.1 + 4 800 c.749G>A c.(748-750)gGg>gAg p.G250E SEPT8_ENST00000378719.2_3'UTR|CCNI2_ENST00000468733.1_3'UTR NM_001039780.2 NP_001034869.1 Q6ZMN8 CCNI2_HUMAN cyclin I family, member 2 250 regulation of cyclin-dependent protein kinase activity protein kinase binding haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTCTATATTGGGACGCCGCTG 0.478000 20 99 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152384585 152384585 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:152384585G>A ENST00000271835.3 - 2 187 c.125C>T c.(124-126)gCc>gTc p.A42V RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 42 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AATCACATCGGCAAACTCTTG 0.572000 24 187 0 0 1 0 0 TTLL10 254173 broad.mit.edu 37 1 1115512 1115512 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:1115512G>A ENST00000379290.1 + 6 471 c.298G>A c.(298-300)Gac>Aac p.D100N TTLL10_ENST00000379288.3_Missense_Mutation_p.D27N|TTLL10_ENST00000379289.1_Missense_Mutation_p.D100N Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 100 protein modification process ATP binding|tubulin-tyrosine ligase activity haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CTGTGGGCCGGACCTGGAGGG 0.692000 7 21 0 0 1 0 0 OSBPL6 114880 broad.mit.edu 37 2 179226415 179226415 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:179226415C>T ENST00000190611.4 + 13 1536 c.1160C>T c.(1159-1161)tCt>tTt p.S387F OSBPL6_ENST00000315022.2_Missense_Mutation_p.S391F|OSBPL6_ENST00000357080.4_Missense_Mutation_p.S356F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.S387F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.S356F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.S412F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.S387F NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 387 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) CCAGTGCATTCTCTTTTGAAG 0.413000 23 58 0 0 1 0 0 CC2D2B 387707 broad.mit.edu 37 10 97772324 97772324 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:97772324G>A ENST00000344386.3 + 4 320 c.156G>A c.(154-156)caG>caA p.Q52Q ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|CC2D2B_ENST00000410012.2_Silent_p.Q52Q|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000371198.2_Intron NM_001001732.3 NP_001001732.2 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B 52 large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1) 10 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) AGAGAGCACAGATTTTTAAAA 0.313000 13 51 0 0 1 0 0 MAOB 4129 broad.mit.edu 37 X 43634451 43634451 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:43634451G>A ENST00000378069.4 - 12 1353 c.1206C>T c.(1204-1206)ttC>ttT p.F402F MAOB_ENST00000536181.1_Silent_p.F386F|MAOB_ENST00000538942.1_Intron NM_000898.4 NP_000889.3 P27338 AOFB_HUMAN monoamine oxidase B 402 xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) TCCCAGGGGGGAAATAAGTTG 0.453000 4 5 0 0 1 0 0 OR8A1 390275 broad.mit.edu 37 11 124440185 124440185 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:124440185C>T ENST00000284287.3 + 1 293 c.221C>T c.(220-222)aCc>aTc p.T74I NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T74I(1) haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 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;0.0214) CAGCTGCACACCCCCATGTAC 0.498000 20 86 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95720249 95720249 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:95720249G>A ENST00000480546.1 - 0 1048 NR_002319.2 AGCCTTTTGGGGGGCTGGTCT 0.512000 9 38 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21120176 21120176 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:21120176C>T ENST00000377122.4 - 16 2016 c.1620G>A c.(1618-1620)atG>atA p.M540I NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 540 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CTGGGATATCCATGCTCACTT 0.368000 16 36 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9061664 9061664 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:9061664G>A ENST00000397910.4 - 3 25985 c.25782C>T c.(25780-25782)ctC>ctT p.L8594L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8596 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 GGCCAAGGGTGAGAAGTGCAG 0.488000 18 58 0 0 1 0 0 DPP9 91039 broad.mit.edu 37 19 4682740 4682740 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:4682740G>A ENST00000262960.9 - 20 2719 c.2442C>T c.(2440-2442)tcC>tcT p.S814S AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000594671.1_Silent_p.S785S|DPP9_ENST00000598800.1_Silent_p.S785S NM_139159.4 NP_631898.3 Q86TI2 DPP9_HUMAN dipeptidyl-peptidase 9 785 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) GCAGGGCCACGGAACCCGCCT 0.657000 4 12 0 0 1 0 0 GPR39 2863 broad.mit.edu 37 2 133175089 133175089 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:133175089C>T ENST00000329321.3 + 1 943 c.474C>T c.(472-474)ttC>ttT p.F158F NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 158 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGATTGGCTTCGTCTGGGTCA 0.602000 13 32 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47808954 47808954 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:47808954G>A ENST00000273857.4 - 2 173 c.174C>T c.(172-174)ctC>ctT p.L58L CORIN_ENST00000504584.1_Silent_p.L58L|CORIN_ENST00000502252.1_Silent_p.L58L|CORIN_ENST00000505909.1_Silent_p.L58L NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 58 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 GCAAGAGAACGAGAGCACAGA 0.443000 4 21 0 0 1 0 0 GYPA 2993 broad.mit.edu 37 4 145038046 145038046 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:145038046C>T ENST00000360771.4 - 5 433 c.318G>A c.(316-318)acG>acA p.T106T GYPA_ENST00000512064.1_Silent_p.T93T|GYPA_ENST00000503627.1_Silent_p.T61T|GYPA_ENST00000512789.1_Silent_p.T41T|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000324022.10_Silent_p.T73T|GYPA_ENST00000504786.1_Silent_p.T74T|GYPA_ENST00000535709.1_Silent_p.T80T|GYPB_ENST00000283126.7_Intron NM_002099.6 NP_002090.4 P02724 GLPA_HUMAN glycophorin A (MNS blood group) 106 interspecies interaction between organisms membrane fraction receptor activity p.T106T(1) central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 all_hematologic(180;0.15) TTAAGAGGATCGTTCCAATAA 0.358000 17 103 0 0 1 0 0 RAB11B 9230 broad.mit.edu 37 19 8467411 8467411 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:8467411C>T ENST00000328024.6 + 4 691 c.473C>T c.(472-474)tCc>tTc p.S158F RAB11B_ENST00000601897.1_Missense_Mutation_p.S39F|RAB11B_ENST00000594216.1_Missense_Mutation_p.S158F NM_004218.3 NP_004209.2 Q15907 RB11B_HUMAN RAB11B, member RAS oncogene family 158 cell cycle|protein transport|small GTPase mediated signal transduction plasma membrane GDP binding|GTP binding|GTPase activity large_intestine(2)|lung(1)|ovary(1) 4 GCCTTGGATTCCACTAACGTA 0.557000 17 52 0 0 1 0 0 ATF2 1386 broad.mit.edu 37 2 175986250 175986250 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:175986250G>A ENST00000264110.2 - 5 419 c.121C>T c.(121-123)Cat>Tat p.H41Y ATF2_ENST00000538946.1_Missense_Mutation_p.H23Y|ATF2_ENST00000487334.2_Missense_Mutation_p.H23Y|ATF2_ENST00000409833.1_Missense_Mutation_p.H41Y|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000345739.5_Intron|ATF2_ENST00000426833.3_Missense_Mutation_p.H23Y|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000392544.1_Missense_Mutation_p.H41Y|ATF2_ENST00000409635.1_Intron|ATF2_ENST00000409437.1_Missense_Mutation_p.H23Y NM_001256090.1|NM_001256091.1|NM_001880.3 NP_001243019.1|NP_001243020.1|NP_001871.2 P15336 ATF2_HUMAN activating transcription factor 2 41 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|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 nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) ACAGCCAAATGATCCTCGTTG 0.313000 10 36 0 0 1 0 0 FSCN2 25794 broad.mit.edu 37 17 79503604 79503604 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:79503604G>A ENST00000334850.7 + 4 1134 c.1134G>A c.(1132-1134)ggG>ggA p.G378G FSCN2_ENST00000417245.2_Intron O14926 FSCN2_HUMAN fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) 368 actin filament bundle assembly|anatomical structure morphogenesis|visual perception actin cytoskeleton|cytoplasm|stereocilium actin filament binding|protein binding, bridging endometrium(1)|lung(1)|prostate(1)|urinary_tract(1) 4 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) CCTGGACAGGGAAGGTGGCGG 0.692000 9 23 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113170146 113170146 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:113170146G>A ENST00000401783.2 - 38 8070 c.7734C>T c.(7732-7734)atC>atT p.I2578I SVEP1_ENST00000297826.5_Silent_p.I504I|SVEP1_ENST00000374469.1_Silent_p.I2555I NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2578 Sushi 20. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AACTGTAGATGATTATGGCAC 0.473000 22 34 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129868614 129868614 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:129868614G>A ENST00000254667.3 + 14 1472 c.1193G>A c.(1192-1194)gGg>gAg p.G398E PTPRE_ENST00000419012.2_Missense_Mutation_p.G398E|PTPRE_ENST00000306042.5_Missense_Mutation_p.G340E NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 398 negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) TACCTCTACGGGGACACAGAG 0.592000 15 46 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108220569 108220569 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:108220569C>T ENST00000273353.3 - 4 445 c.389G>A c.(388-390)tGg>tAg p.W130* NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 130 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 ATAGATCATCCACTGGCCATA 0.458000 15 36 0 0 1 0 0 FLRT1 23769 broad.mit.edu 37 11 63884315 63884315 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:63884315C>T ENST00000246841.3 + 2 1619 c.576C>T c.(574-576)atC>atT p.I192I MACROD1_ENST00000255681.6_Intron NM_013280.4 NP_037412.2 Q9NZU1 FLRT1_HUMAN fibronectin leucine rich transmembrane protein 1 164 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 TGAGCAGCATCCCCTCGGGGC 0.632000 8 28 0 0 1 0 0 UTP6 55813 broad.mit.edu 37 17 30226677 30226677 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:30226677G>A ENST00000261708.4 - 2 302 c.165C>T c.(163-165)atC>atT p.I55I UTP6_ENST00000490218.2_5'UTR NM_018428.2 NP_060898.2 Q9NYH9 UTP6_HUMAN UTP6, small subunit (SSU) processome component, homolog (yeast) 55 rRNA processing nucleolus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1) 21 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) GAACATAATTGATAAAGTCTT 0.363000 9 17 0 0 1 0 0 PML 5371 broad.mit.edu 37 15 74326911 74326911 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:74326911C>T ENST00000435786.2 + 7 1819 c.1750C>T c.(1750-1752)Ccc>Tcc p.P584S PML_ENST00000268058.3_Intron|PML_ENST00000268059.6_Intron|PML_ENST00000569477.1_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000354026.6_Intron|PML_ENST00000436891.3_Intron NM_033240.2 NP_150243.2 P29590 PML_HUMAN promyelocytic leukemia 583 cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 TCCTGCCTCCCCCCATTTCAG 0.587000 T """RARA, PAX5""" """APL, ALL""" 19 60 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48761025 48761025 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:48761025G>A ENST00000285238.8 + 27 3942 c.3862G>A c.(3862-3864)Gag>Aag p.E1288K NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1288 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CCCACGTGGGGAGGTGGAGTT 0.657000 12 99 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185215 127185215 + Missense_Mutation SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:127185215T>C ENST00000371124.3 - 1 1167 c.971A>G c.(970-972)aAa>aGa p.K324R NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 324 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 GGGAGTACCTTTGGAAGCCAG 0.498000 31 22 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164764781 164764781 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:164764781G>A ENST00000264382.3 - 16 1797 c.1735C>T c.(1735-1737)Cct>Tct p.P579S NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 579 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CTCTTATTAGGAAAAACTTTT 0.303000 HNSCC(35;0.089) 7 19 0 0 1 0 0 CCR10 2826 broad.mit.edu 37 17 40832611 40832611 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:40832611C>T ENST00000332438.4 - 2 68 c.49G>A c.(49-51)Gat>Aat p.D17N CTD-3193K9.4_ENST00000593139.1_RNA|CCR10_ENST00000591765.1_5'UTR NM_016602.2 NP_057686.2 P46092 CCR10_HUMAN chemokine (C-C motif) receptor 10 17 integral to plasma membrane lung(1)|ovary(1)|skin(1) 3 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) TCCTCTTCATCCCCAGAGTAA 0.592000 15 56 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53044607 53044607 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:53044607C>T ENST00000276480.7 - 22 3260 c.2577G>A c.(2575-2577)tgG>tgA p.W859* NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 859 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGTTCAGTTTCCAGGAGAGGG 0.493000 16 57 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107720054 107720054 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:107720054C>T ENST00000388781.3 - 15 1962 c.1879G>A c.(1879-1881)Gaa>Aaa p.E627K LAMB4_ENST00000205386.4_Missense_Mutation_p.E627K|LAMB4_ENST00000388780.3_Missense_Mutation_p.E627K|LAMB4_ENST00000414450.2_Missense_Mutation_p.E627K NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 627 Laminin IV type B. 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 ACCTGGGTTTCATAGTGAATG 0.453000 30 52 0 0 1 0 0 HAP1 9001 broad.mit.edu 37 17 39890717 39890717 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:39890717C>T ENST00000393939.2 - 1 179 c.170G>A c.(169-171)gGa>gAa p.G57E JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Missense_Mutation_p.G57E|HAP1_ENST00000341193.5_Missense_Mutation_p.G57E|HAP1_ENST00000310778.5_Missense_Mutation_p.G57E P54257 HAP1_HUMAN huntingtin-associated protein 1 57 brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) GAACTGGGATCCAGAGGTGGC 0.701000 9 40 0 0 1 0 0 SCYL2 55681 broad.mit.edu 37 12 100717410 100717410 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:100717410C>T ENST00000360820.2 + 11 1940 c.1503C>T c.(1501-1503)tcC>tcT p.S501S NM_017988.4 NP_060458.3 Q6P3W7 SCYL2_HUMAN SCY1-like 2 (S. cerevisiae) 501 endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 AAACATCTTCCCTTGCGGTAA 0.303000 10 38 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25019811 25019811 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:25019811C>T ENST00000400382.1 + 11 1703 c.948C>T c.(946-948)atC>atT p.I316I GGT1_ENST00000400383.1_Silent_p.I316I|GGT1_ENST00000400380.1_Silent_p.I316I|GGT1_ENST00000406383.2_Silent_p.I316I|GGT1_ENST00000248923.4_Silent_p.I316I|GGT1_ENST00000466310.1_3'UTR P19440 GGT1_HUMAN gamma-glutamyltransferase 1 316 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) ACCACCGCATCGTAGAGGCTT 0.617000 10 60 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103059752 103059752 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:103059752G>A ENST00000264260.2 + 8 1478 c.889G>A c.(889-891)Gag>Aag p.E297K IL18RAP_ENST00000409369.1_Missense_Mutation_p.E155K NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 297 Ig-like C2-type 2. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 TTCTGACCTAGAGTGGGAAGT 0.393000 17 44 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200960248 200960248 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:200960248G>A ENST00000332129.2 - 18 2800 c.2484C>T c.(2482-2484)ccC>ccT p.P828P KIF21B_ENST00000422435.2_Silent_p.P828P|KIF21B_ENST00000360529.5_Silent_p.P828P|KIF21B_ENST00000461742.2_Silent_p.P828P NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 828 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GCTCAGACATGGGCTTGGCCA 0.637000 11 74 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7059828 7059828 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:7059828C>T ENST00000299481.4 + 2 357 c.11C>T c.(10-12)tCa>tTa p.S4L NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 4 DAPIN. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ATGGCAGATTCATCATCATCT 0.368000 25 66 0 0 1 0 0 BARX2 8538 broad.mit.edu 37 11 129306709 129306709 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:129306709C>T ENST00000281437.4 + 2 347 c.251C>T c.(250-252)tCc>tTc p.S84F BARX2_ENST00000526127.1_5'UTR NM_003658.4 NP_003649.2 Q9UMQ3 BARX2_HUMAN BARX homeobox 2 84 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) ACTGTCATCTCCCACCTGGTC 0.677000 30 77 0 0 1 0 0 MTF1 4520 broad.mit.edu 37 1 38288067 38288067 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:38288067C>T ENST00000373036.4 - 9 1633 c.1493G>A c.(1492-1494)gGa>gAa p.G498E NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 498 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AACAGAAAGTCCTGGTACAAT 0.572000 11 27 0 0 1 0 0 CORO7 79585 broad.mit.edu 37 16 4412714 4412714 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:4412714G>A ENST00000251166.4 - 15 1446 c.1301C>T c.(1300-1302)tCg>tTg p.S434L CORO7_ENST00000423908.2_Missense_Mutation_p.S266L|CORO7_ENST00000537233.2_Missense_Mutation_p.S416L|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.S434L|CORO7_ENST00000574025.1_Missense_Mutation_p.S349L|CORO7_ENST00000539968.1_Missense_Mutation_p.S214L NM_024535.4 NP_078811.3 coronin 7 breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23 CGAGGTCAGCGAACTGGGAGG 0.667000 7 19 0 0 1 0 0 MIR1253 100302208 broad.mit.edu 37 17 2651398 2651398 + RNA SNP G G A rs139010443 by1000genomes TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:2651398G>A ENST00000408273.1 - 0 78 NR_031654.1 AATCCCAAAGGGGAGAAGATC 0.478000 3 23 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48655581 48655581 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:48655581C>T ENST00000352832.5 + 9 2329 c.1957C>T c.(1957-1959)Cct>Tct p.P653S CACNA1G_ENST00000510366.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P653S|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P653S|CACNA1G_ENST00000358244.5_Missense_Mutation_p.P653S|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P653S|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000416767.4_Missense_Mutation_p.P653S|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P653S|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P653S|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P653S|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P653S 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 653 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity 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) GATCTCCAGCCCTTGCTTGAA 0.622000 14 90 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133219489 133219489 + Missense_Mutation SNP G G A rs147500308 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:133219489G>A ENST00000320574.5 - 36 4688 c.4645C>T c.(4645-4647)Ccc>Tcc p.P1549S POLE_ENST00000535270.1_Missense_Mutation_p.P1522S NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1549 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) GTGTGTTTGGGGGGTGGCAGG 0.612000 DNA polymerases (catalytic subunits) 18 67 0 0 1 0 0 LIG1 3978 broad.mit.edu 37 19 48621014 48621014 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:48621014G>A ENST00000263274.7 - 26 2883 c.2464C>T c.(2464-2466)Cct>Tct p.P822S LIG1_ENST00000536218.1_Missense_Mutation_p.P754S|LIG1_ENST00000427526.2_Missense_Mutation_p.P791S NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 822 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CGCACGTAAGGGCGTGGGCTG 0.612000 Nucleotide excision repair (NER) 3 19 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21231652 21231652 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:21231652C>T ENST00000233242.1 - 26 8215 c.8088G>A c.(8086-8088)ctG>ctA p.L2696L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2696 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) CCTCCACCTTCAGATCCCTGA 0.438000 32 126 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176004541 176004541 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:176004541G>A ENST00000510636.1 + 13 1610 c.1336G>A c.(1336-1338)Gcg>Acg p.A446T CDHR2_ENST00000506348.1_Missense_Mutation_p.A446T|CDHR2_ENST00000261944.5_Missense_Mutation_p.A446T NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 446 Cadherin 4. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 GAGGCAGACGGCGATGGCGGT 0.692000 13 29 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281161 152281161 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:152281161G>A ENST00000368799.1 - 3 6236 c.6201C>T c.(6199-6201)ccC>ccT p.P2067P FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2067 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTGCTGATGGGGCCCAGCTT 0.562000 Ichthyosis 92 621 0 0 1 0 0 ASB4 51666 broad.mit.edu 37 7 95167003 95167003 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:95167003C>T ENST00000325885.5 + 5 1284 c.1213C>T c.(1213-1215)Cct>Tct p.P405S NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 405 SOCS box. intracellular signal transduction p.P405S(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) TAGAGCAATTCCTTTGCTTTC 0.413000 28 73 0 0 1 0 0 E2F2 1870 broad.mit.edu 37 1 23848337 23848337 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:23848337G>A ENST00000361729.2 - 3 996 c.570C>T c.(568-570)atC>atT p.I190I NM_004091.3 NP_004082.1 Q14209 E2F2_HUMAN E2F transcription factor 2 190 G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19) ACACCCACTGGATGTTGTTCT 0.612000 19 43 0 0 1 0 0 SLC7A3 84889 broad.mit.edu 37 X 70147134 70147134 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:70147134G>A ENST00000374299.3 - 8 1428 c.1284C>T c.(1282-1284)ctC>ctT p.L428L SLC7A3_ENST00000298085.4_Silent_p.L428L Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 428 cellular nitrogen compound metabolic process integral to membrane|plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) AGTCTCACCTGAGGATGAGAA 0.453000 9 9 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242139641 242139641 + Splice_Site SNP G G A rs150724018 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:242139641G>A ENST00000274979.8 + 6 819 c.e6+1 ANO7_ENST00000402430.3_Splice_Site NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 AGCTGCCACGGTAAGGCAGGG 0.607000 7 29 0 0 1 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6898475 6898475 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr18:6898475G>A ENST00000262227.3 + 17 5126 c.1915G>A c.(1915-1917)Gga>Aga p.G639R ARHGAP28_ENST00000400091.2_Missense_Mutation_p.G691R|ARHGAP28_ENST00000419673.2_Intron|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.G514R|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.G532R|ARHGAP28_ENST00000383472.4_Intron|ARHGAP28_ENST00000531294.1_Intron|ARHGAP28_ENST00000314319.3_Intron B4DXL2 B4DXL2_HUMAN Rho GTPase activating protein 28 0 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) cttcctaaatggaaaatgggt 0.418000 34 52 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13867922 13867922 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:13867922G>A ENST00000265104.4 - 25 4118 c.4014C>T c.(4012-4014)ttC>ttT p.F1338F CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1338 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.F1338F(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AATCTTGGAGGAATACCTCCA 0.453000 Kartagener syndrome 30 112 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205884054 205884054 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:205884054G>A ENST00000367134.2 - 22 2743 c.2630C>T c.(2629-2631)tCg>tTg p.S877L SLC26A9_ENST00000340781.4_Missense_Mutation_p.S877L|SLC26A9_ENST00000367135.3_3'UTR NM_134325.2 NP_599152.2 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 0 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) ATCTGACACCGAGCCGTGTGG 0.527000 24 210 0 0 1 0 0 SLC7A3 84889 broad.mit.edu 37 X 70148084 70148084 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:70148084C>T ENST00000374299.3 - 5 875 c.731G>A c.(730-732)gGa>gAa p.G244E SLC7A3_ENST00000298085.4_Missense_Mutation_p.G244E Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 244 cellular nitrogen compound metabolic process integral to membrane|plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) AGGCACAAATCCTCCAGAGCC 0.493000 5 8 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96795092 96795092 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:96795092G>A ENST00000359933.4 - 13 2786 c.1893C>T c.(1891-1893)ttC>ttT p.F631F NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 631 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) CTTTGGAATGGAACGTTAAAA 0.358000 5 43 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81637125 81637125 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:81637125C>T ENST00000558726.1 - 13 1638 c.1503G>A c.(1501-1503)tgG>tgA p.W501* RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Nonsense_Mutation_p.W500* Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 500 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 CGTATGTCTCCCAGCACTGGT 0.498000 12 35 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43585144 43585144 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:43585144G>A ENST00000406487.1 - 2 417 c.319C>T c.(319-321)Ctg>Ttg p.L107L NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 107 Ig-like V-type. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) TGGATCAGCAGGGATGCATTG 0.443000 72 221 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179595093 179595093 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:179595093G>A ENST00000589042.1 - 62 18258 c.18034C>T c.(18034-18036)Cct>Tct p.P6012S TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P4768S|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P5695S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5695 Ig-like 41. 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) ACAAAGTAAGGGGGTTCTGAG 0.358000 3 16 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11733242 11733242 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:11733242C>T ENST00000381486.2 + 11 1986 c.1686C>T c.(1684-1686)atC>atT p.I562I GREB1_ENST00000234142.5_Silent_p.I562I NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 562 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) ACTCCTGCATCGCCGTCACCG 0.642000 5 11 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55107247 55107247 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:55107247C>T ENST00000251372.3 + 6 987 c.805C>T c.(805-807)Cct>Tct p.P269S LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron NM_006863.1 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 269 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity p.P269S(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CCTCCAGCTCCCTGGCCCACA 0.607000 36 95 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28660142 28660142 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr18:28660142C>T ENST00000280904.6 - 10 1883 c.1440G>A c.(1438-1440)atG>atA p.M480I DSC2_ENST00000251081.6_Missense_Mutation_p.M480I NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 480 Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CATTTTCTTTCATGCGAACAG 0.418000 29 73 0 0 1 0 0 OR10H3 26532 broad.mit.edu 37 19 15852478 15852478 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:15852478C>T ENST00000305892.1 + 1 276 c.276C>T c.(274-276)tcC>tcT p.S92S NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CCCATCGTTCCATCACCTTTG 0.498000 62 238 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30701198 30701198 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:30701198G>A ENST00000256246.2 - 1 5410 c.5336C>T c.(5335-5337)tCa>tTa p.S1779L NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1779 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) TACATAGTATGAATTCTTTTC 0.323000 9 19 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238285986 238285986 + Splice_Site SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:238285986C>T ENST00000295550.4 - 7 2951 c.2497_splice c.e7-1 p.E833_splice COL6A3_ENST00000409809.1_Splice_Site_p.E627_splice|COL6A3_ENST00000353578.4_Splice_Site_p.E627_splice|COL6A3_ENST00000392003.2_Splice_Site_p.E426_splice|COL6A3_ENST00000346358.4_Splice_Site_p.E633_splice|COL6A3_ENST00000347401.3_Splice_Site_p.E632_splice|COL6A3_ENST00000472056.1_Splice_Site_p.E226_splice|COL6A3_ENST00000392004.3_Splice_Site_p.E627_splice NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 833 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTCGCTTGCTCTCTGCAATGA 0.478000 18 43 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65486366 65486366 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:65486366C>T ENST00000519389.1 + 21 3670 c.3491C>T c.(3490-3492)tCt>tTt p.S1164F HEPH_ENST00000441993.2_Missense_Mutation_p.S1112F|HEPH_ENST00000374727.3_Missense_Mutation_p.S1113F|HEPH_ENST00000336279.5_Missense_Mutation_p.S843F|HEPH_ENST00000343002.2_Missense_Mutation_p.S1110F|HEPH_ENST00000419594.1_Missense_Mutation_p.S921F Q9BQS7 HEPH_HUMAN hephaestin 1110 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 ATGCTGGCCTCTGTTTTGGTT 0.488000 9 28 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 70255216 70255216 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:70255216C>T ENST00000342771.4 + 19 3335 c.3014C>T c.(3013-3015)cCg>cTg p.P1005L AUTS2_ENST00000406775.2_Missense_Mutation_p.P981L NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 1005 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GCCTCGGAGCCGCCGCCTCCC 0.672000 10 38 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10430053 10430053 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:10430053C>T ENST00000245503.5 - 30 4434 c.4050G>A c.(4048-4050)cgG>cgA p.R1350R CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.R1350R|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1350 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CATACTGTTCCCGCAGCAGGT 0.557000 21 90 0 0 1 0 0 KRT32 3882 broad.mit.edu 37 17 39620587 39620587 + Missense_Mutation SNP C C T rs141728288 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:39620587C>T ENST00000225899.3 - 4 920 c.817G>A c.(817-819)Gag>Aag p.E273K NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 273 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) ACCATGGCCTCGTACTGACAC 0.622000 17 46 0 0 1 0 0 EARS2 124454 broad.mit.edu 37 16 23540859 23540859 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:23540859G>A ENST00000449606.1 - 7 1347 c.1316C>T c.(1315-1317)tCg>tTg p.S439L EARS2_ENST00000563232.1_Missense_Mutation_p.S439L|EARS2_ENST00000563459.1_Missense_Mutation_p.S439L|EARS2_ENST00000564501.1_Missense_Mutation_p.S439L|EARS2_ENST00000564987.1_5'UTR NM_001083614.1 NP_001077083.1 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2, mitochondrial 439 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) CACCTTCTCCGAGATGGCGTC 0.607000 8 23 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103491447 103491447 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:103491447G>A ENST00000358392.2 - 6 1159 c.842C>T c.(841-843)tCc>tTc p.S281F COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000370096.3_Intron NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 281 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AAACTTTTTGGATTTTTCCTT 0.343000 17 62 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24993376 24993376 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:24993376C>T ENST00000323848.9 + 13 2014 c.1699C>T c.(1699-1701)Cct>Tct p.P567S SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P579S|SRRM1_ENST00000374389.4_Missense_Mutation_p.P576S NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 567 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CGCCCCTCCTCCTCGACGGCG 0.542000 12 44 0 0 1 0 0 PRRC2B 84726 broad.mit.edu 37 9 134354664 134354664 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:134354664C>T ENST00000357304.4 + 18 4839 c.4784C>T c.(4783-4785)tCc>tTc p.S1595F PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.S901F|PRRC2B_ENST00000405995.1_Missense_Mutation_p.S901F NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 1595 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CGAGGCCTTTCCTCCCGTATT 0.527000 22 21 0 0 1 0 0 SLC7A7 9056 broad.mit.edu 37 14 23242856 23242856 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:23242856C>T ENST00000397532.3 - 10 2024 c.1499G>A c.(1498-1500)gGa>gAa p.G500E SLC7A7_ENST00000285850.7_Missense_Mutation_p.G500E|SLC7A7_ENST00000554517.1_Missense_Mutation_p.G234E|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000555702.1_Missense_Mutation_p.G500E|SLC7A7_ENST00000397528.4_Missense_Mutation_p.G500E|SLC7A7_ENST00000397529.2_Missense_Mutation_p.G500E Q9UM01 YLAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 500 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.00741) GGGCATCTCTCCTCCATCTTC 0.473000 12 52 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18622307 18622307 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:18622307G>A ENST00000380548.4 + 5 880 c.541G>A c.(541-543)Gat>Aat p.D181N ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.D181N|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.D181N|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.D181N|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.D181N NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 181 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) CTGCAACGGAGATGGGTCCAC 0.517000 18 39 0 0 1 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7523420 7523420 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:7523420C>T ENST00000359920.6 + 9 1893 c.1640C>T c.(1639-1641)tCg>tTg p.S547L CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R505C|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.S389L NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 547 PH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) CCCGTCATCTCGTTACAAAAG 0.552000 9 53 0 0 1 0 0 CYP27C1 339761 broad.mit.edu 37 2 127950744 127950744 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:127950744G>A ENST00000335247.7 - 7 1058 c.928C>T c.(928-930)Ccc>Tcc p.P310S CYP27C1_ENST00000409327.1_Missense_Mutation_p.P310S NM_001001665.3 NP_001001665.3 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, polypeptide 1 310 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 16 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) TGACCAAAGGGGATGGATCCA 0.557000 20 38 0 0 1 0 0 OR10W1 81341 broad.mit.edu 37 11 58035302 58035302 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:58035302G>A ENST00000395079.2 - 1 430 c.29C>T c.(28-30)tCc>tTc p.S10F NM_207374.3 NP_997257.2 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, member 1 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) TTCTGGGCAGGAGGGATAGGC 0.453000 11 38 0 0 1 0 0 IL17RD 54756 broad.mit.edu 37 3 57131659 57131659 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:57131659G>A ENST00000296318.7 - 12 2160 c.2072C>T c.(2071-2073)tCc>tTc p.S691F IL17RD_ENST00000320057.5_Missense_Mutation_p.S547F|IL17RD_ENST00000463523.1_Missense_Mutation_p.S547F|IL17RD_ENST00000427856.2_Missense_Mutation_p.S667F NM_017563.3 NP_060033.3 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D 691 Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) CTCCGTCAGGGAAGACGTTTC 0.587000 4 12 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803068 185803068 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:185803068G>A ENST00000302277.6 + 4 3539 c.2945G>A c.(2944-2946)gGa>gAa p.G982E NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 982 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 CTTCCACAAGGAAAGATGAAT 0.418000 22 93 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718345 142718345 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:142718345G>A ENST00000381779.4 - 2 805 c.580C>T c.(580-582)Cct>Tct p.P194S SLITRK4_ENST00000356928.1_Missense_Mutation_p.P194S|SLITRK4_ENST00000338017.4_Missense_Mutation_p.P194S NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 194 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) CCGATATAAGGGAGCTTCTGG 0.418000 27 29 0 0 1 0 0 AACSP1 729522 broad.mit.edu 37 5 178199438 178199438 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:178199438C>T ENST00000503486.2 - 0 1097 NR_024035.1 ACCGCGATGCCCTTGGTTTCC 0.612000 5 9 0 0 1 0 0 AP3S2 10239 broad.mit.edu 37 15 90378804 90378804 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:90378804C>T ENST00000336418.4 - 6 917 c.525G>A c.(523-525)cgG>cgA p.R175R AP3S2_ENST00000558011.1_Silent_p.R187R|AP3S2_ENST00000560940.1_Intron|C15orf38-AP3S2_ENST00000398333.3_Silent_p.R376R|AP3S2_ENST00000560771.1_5'UTR NM_005829.4 NP_005820.1 adaptor-related protein complex 3, sigma 2 subunit NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1) 6 Lung NSC(78;0.0181)|all_lung(78;0.0384) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223) TGTTGATGTTCCGAGGAATCT 0.483000 35 105 0 0 1 0 0 STYK1 55359 broad.mit.edu 37 12 10780308 10780308 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:10780308C>T ENST00000075503.3 - 7 1169 c.649G>A c.(649-651)Gat>Aat p.D217N NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 217 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 AGAAGACCATCCATAGTCATC 0.398000 HNSCC(73;0.22) 8 47 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10647997 10647997 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:10647997G>A ENST00000547195.1 - 8 1111 c.611C>T c.(610-612)cCc>cTc p.P204L MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.P286L|MRVI1_ENST00000552103.1_Missense_Mutation_p.P204L|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.P287L|MRVI1_ENST00000527509.2_Missense_Mutation_p.P204L|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000436272.1_Missense_Mutation_p.P268L|MRVI1_ENST00000423302.2_Missense_Mutation_p.P295L NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 268 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) GTACTGGAGGGGATCGAAGTT 0.547000 6 31 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20328586 20328586 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:20328586G>A ENST00000302555.5 - 8 1514 c.1365C>T c.(1363-1365)ttC>ttT p.F455F GP2_ENST00000341642.5_Silent_p.F308F|GP2_ENST00000381360.5_Silent_p.F311F|GP2_ENST00000381362.4_Silent_p.F458F P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 458 ZP. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CACAATGCAGGAAAACTAGGT 0.483000 11 27 0 0 1 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140740411 140740411 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140740411G>A ENST00000522605.1 + 1 709 c.709G>A c.(709-711)Gat>Aat p.D237N PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATGCCAACGATAACCCTCC 0.567000 18 68 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48697704 48697704 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:48697704C>T ENST00000314191.2 - 78 11130 c.11074G>A c.(11074-11076)Gag>Aag p.E3692K PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E3692K NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3693 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CTCAGGAACTCCACTTTGAAG 0.453000 Non-homologous end-joining 12 45 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121350826 121350826 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:121350826C>T ENST00000314583.3 - 14 1419 c.1328G>A c.(1327-1329)gGa>gAa p.G443E HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.G406E NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 443 SH3. erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) CTCATCACTTCCCTCTGGGGA 0.522000 30 118 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179648464 179648464 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:179648464G>A ENST00000589042.1 - 17 3048 c.2824C>T c.(2824-2826)Cca>Tca p.P942S TTN_ENST00000342175.6_Missense_Mutation_p.P896S|TTN_ENST00000342992.6_Missense_Mutation_p.P942S|TTN_ENST00000359218.5_Missense_Mutation_p.P896S|TTN_ENST00000360870.5_Missense_Mutation_p.P942S|TTN_ENST00000591111.1_Missense_Mutation_p.P942S|TTN_ENST00000460472.2_Missense_Mutation_p.P896S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 942 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) AAAGTTGGTGGAGTAACAGGA 0.353000 10 29 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24922164 24922164 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:24922164G>A ENST00000329468.2 + 1 1624 c.1150G>A c.(1150-1152)Gat>Aat p.D384N NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AATCTTGGAGGATAAAACAGA 0.537000 17 50 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103290785 103290785 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:103290785C>T ENST00000424685.2 - 16 2097 c.1938G>A c.(1936-1938)cgG>cgA p.R646R RELN_ENST00000428762.1_Silent_p.R646R|RELN_ENST00000343529.5_Silent_p.R646R P78509 RELN_HUMAN reelin 646 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCCTGGTGTTCCGGGTTAGTG 0.418000 7 83 0 0 1 0 0 CXCR1 3577 broad.mit.edu 37 2 219029610 219029610 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:219029610G>A ENST00000295683.2 - 2 445 c.325C>T c.(325-327)Ctg>Ttg p.L109L NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 109 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 ACCTTGCACAGGAATGTGCCA 0.557000 24 63 0 0 1 0 0 TTC17 55761 broad.mit.edu 37 11 43418303 43418303 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:43418303G>A ENST00000039989.4 + 6 722 c.708G>A c.(706-708)tgG>tgA p.W236* TTC17_ENST00000299240.6_Nonsense_Mutation_p.W236*|TTC17_ENST00000526774.1_3'UTR NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 236 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 CATTTTACTGGAGAATTAAGA 0.388000 6 53 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61498495 61498495 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:61498495G>A ENST00000424789.2 + 25 5156 c.5152G>A c.(5152-5154)Gga>Aga p.G1718R TANC2_ENST00000389520.4_Missense_Mutation_p.G1728R|RP11-269G24.3_ENST00000583552.1_RNA NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1718 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 ACCACAGATCGGACGCAGCCA 0.532000 39 203 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22156665 22156665 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:22156665G>A ENST00000397126.4 - 4 1319 c.1171C>T c.(1171-1173)Cat>Tat p.H391Y 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) TCTCCAGTATGAATTTTCTTA 0.378000 10 31 0 0 1 0 0 AACS 65985 broad.mit.edu 37 12 125626755 125626755 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:125626755C>T ENST00000545511.1 + 7 5522 c.535C>T c.(535-537)Cct>Tct p.P179S AACS_ENST00000316519.6_Missense_Mutation_p.P667S|AACS_ENST00000261686.6_Missense_Mutation_p.P599L|AACS_ENST00000543665.1_Missense_Mutation_p.P99S|AACS_ENST00000316543.10_Missense_Mutation_p.P265S Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 667 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) CCGGGACATCCCTGAGCTGCA 0.537000 14 55 0 0 1 0 0 TBRG4 9238 broad.mit.edu 37 7 45141666 45141666 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:45141666C>T ENST00000258770.3 - 8 1446 c.1325G>A c.(1324-1326)gGc>gAc p.G442D TBRG4_ENST00000361278.3_Missense_Mutation_p.G332D|TBRG4_ENST00000494076.1_Missense_Mutation_p.G442D|TBRG4_ENST00000395655.4_Missense_Mutation_p.G332D NM_004749.3 NP_004740.2 Q969Z0 TBRG4_HUMAN transforming growth factor beta regulator 4 442 apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2) 17 CTGAGACTTGCCCCCTAGGAG 0.612000 4 140 0 0 1 0 0 SHC3 53358 broad.mit.edu 37 9 91686132 91686132 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:91686132G>A ENST00000375835.4 - 5 1071 c.765C>T c.(763-765)ttC>ttT p.F255F SHC3_ENST00000375830.1_5'UTR NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 255 PID. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 CCCCAGAGGCGAAGGAGATGG 0.502000 6 37 0 0 1 0 0 CPSF6 11052 broad.mit.edu 37 12 69652651 69652651 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:69652651C>T ENST00000435070.2 + 6 1086 c.976C>T c.(976-978)Cgt>Tgt p.R326C CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Missense_Mutation_p.R253C|CPSF6_ENST00000266679.8_Missense_Mutation_p.R363C NM_007007.2 NP_008938.2 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 68kDa 326 Pro-rich. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) CTTTCCACCTCGTCCACCCGG 0.672000 22 98 0 0 1 0 0 OR10H1 26539 broad.mit.edu 37 19 15918436 15918436 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:15918436G>A ENST00000334920.2 - 1 500 c.412C>T c.(412-414)Ccg>Tcg p.P138S NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 CAGCCCCGCGGGCTCATGAGC 0.647000 19 74 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179634931 179634931 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:179634931C>T ENST00000589042.1 - 36 8721 c.8497G>A c.(8497-8499)Gaa>Aaa p.E2833K TTN_ENST00000342175.6_Missense_Mutation_p.E2787K|TTN_ENST00000342992.6_Missense_Mutation_p.E2833K|TTN_ENST00000359218.5_Missense_Mutation_p.E2787K|TTN_ENST00000360870.5_Missense_Mutation_p.E2833K|TTN_ENST00000591111.1_Missense_Mutation_p.E2833K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E2787K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2571 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) GGCTTAATTTCCACACTCTTA 0.458000 23 89 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119903608 119903608 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:119903608G>A ENST00000313400.4 - 4 1265 c.1165C>T c.(1165-1167)Cga>Tga p.R389* ASTN2_ENST00000373996.3_Nonsense_Mutation_p.R389*|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron O75129 ASTN2_HUMAN astrotactin 2 389 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GGCCTACCTCGAGACTTGCTC 0.577000 7 30 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43615054 43615054 + Missense_Mutation SNP G G A rs142779213 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:43615054G>A ENST00000355710.3 + 14 2700 c.2468G>A c.(2467-2469)gGg>gAg p.G823E RET_ENST00000340058.5_Missense_Mutation_p.G823E NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 823 Protein kinase. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CGCAAAGTGGGGCCTGGCTAC 0.687000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 12 34 0 0 1 0 0 ZNF341 84905 broad.mit.edu 37 20 32354733 32354733 + Silent SNP G G A rs150939868 byFrequency TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:32354733G>A ENST00000375200.1 + 9 1664 c.1299G>A c.(1297-1299)ccG>ccA p.P433P ZNF341_ENST00000342427.2_Silent_p.P426P Q9BYN7 ZN341_HUMAN zinc finger protein 341 433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 GGGACAAGCCGGAGTCCAAGC 0.612000 64 280 0 0 1 0 0 MS4A14 84689 broad.mit.edu 37 11 60183350 60183350 + Silent SNP T T A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:60183350T>A ENST00000300187.6 + 5 1186 c.909T>A c.(907-909)gtT>gtA p.V303V MS4A14_ENST00000395005.2_Silent_p.V286V|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Silent_p.V191V|MS4A14_ENST00000531783.1_Silent_p.V336V NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 303 integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 CACTCCAAGTTTTTCCATCCC 0.423000 11 55 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588185 247588185 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:247588185G>A ENST00000366497.2 + 4 2220 c.1440G>A c.(1438-1440)caG>caA p.Q480Q NLRP3_ENST00000366496.2_Silent_p.Q480Q|NLRP3_ENST00000348069.2_Silent_p.Q480Q|NLRP3_ENST00000391828.3_Silent_p.Q480Q|NLRP3_ENST00000336119.3_Silent_p.Q480Q|NLRP3_ENST00000391827.2_Silent_p.Q480Q|NLRP3_ENST00000474792.1_3'UTR NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 480 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCTGGAACCAGAAAATCCTGT 0.567000 26 36 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10725488 10725488 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:10725488G>A ENST00000377022.3 - 5 474 c.157C>T c.(157-159)Cac>Tac p.H53Y CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.H53Y NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 53 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CCCTCCGTGTGGGAGCCGGCG 0.706000 6 53 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6655520 6655520 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:6655520C>T ENST00000299441.3 - 3 2226 c.1815G>A c.(1813-1815)gcG>gcA p.A605A RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 605 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCACTATCCGCGTCTGTGG 0.572000 17 56 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24884069 24884069 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:24884069G>A ENST00000396432.2 - 20 4249 c.3763C>T c.(3763-3765)Cgt>Tgt p.R1255C ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R1042C NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1254 Rho-GAP. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GTTTTCAGACGATCTAGAGGA 0.303000 6 24 0 0 1 0 0 ZNF721 170960 broad.mit.edu 37 4 436992 436992 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:436992G>A ENST00000338977.5 - 2 1276 c.1228C>T c.(1228-1230)Cgt>Tgt p.R410C ZNF721_ENST00000511833.2_Missense_Mutation_p.R422C|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 GCTCTGCCACGATCTTCACAT 0.378000 8 25 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144750811 144750811 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:144750811C>T ENST00000367545.3 + 8 789 c.789C>T c.(787-789)atC>atT p.I263I NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 263 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TAGACGCCATCCGTGAGGTAG 0.373000 18 32 0 0 1 0 0 JUP 3728 broad.mit.edu 37 17 39921213 39921213 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:39921213G>A ENST00000393931.3 - 6 1134 c.1016C>T c.(1015-1017)tCc>tTc p.S339F JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.S339F|JUP_ENST00000310706.5_Missense_Mutation_p.S339F NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 339 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GGGACACACGGATAGCACCTT 0.592000 67 120 0 0 1 0 0 OR10G3 26533 broad.mit.edu 37 14 22038238 22038238 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:22038238G>A ENST00000303532.1 - 1 637 c.638C>T c.(637-639)tCc>tTc p.S213F NM_001005465.1 NP_001005465.1 Q8NGC4 O10G3_HUMAN olfactory receptor, family 10, subfamily G, member 3 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7) 15 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) GAGGATCAGGGAGAAGCAACT 0.537000 31 110 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100684355 100684355 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:100684355G>A ENST00000306151.4 + 3 9722 c.9658G>A c.(9658-9660)Gga>Aga p.G3220R NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3220 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) TCCTAGTGAAGGAATGACTCC 0.488000 92 412 0 0 1 0 0 IGHV7-81 28378 broad.mit.edu 37 14 107282999 107282999 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:107282999G>A ENST00000390639.2 - 0 197 CATAGGTGGTGAAACTGTAAC 0.567000 30 113 0 0 1 0 0 PCDHB18P 54660 broad.mit.edu 37 5 140616485 140616485 + RNA SNP T T G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140616485T>G ENST00000526308.1 + 0 2548 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 AGCCCCACCTTTCTGAATGGC 0.448000 6 23 0 0 1 0 0 FAM83E 54854 broad.mit.edu 37 19 49107094 49107094 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:49107094C>T ENST00000263266.3 - 4 1022 c.833G>A c.(832-834)aGc>aAc p.S278N NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 278 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GAACTCAAGGCTGAAGGCGTC 0.682000 17 68 0 0 1 0 0 KCNK3 3777 broad.mit.edu 37 2 26950833 26950833 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:26950833C>T ENST00000302909.3 + 2 707 c.582C>T c.(580-582)ttC>ttT p.F194F NM_002246.2 NP_002237.1 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 194 synaptic transmission integral to plasma membrane endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACTACTGCTTCATCACCCTCA 0.612000 12 44 0 0 1 0 0 FBXO24 26261 broad.mit.edu 37 7 100198206 100198206 + Missense_Mutation SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:100198206T>C ENST00000241071.6 + 10 1749 c.1427T>C c.(1426-1428)aTc>aCc p.I476T FBXO24_ENST00000468962.1_Missense_Mutation_p.I464T|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.I514T NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 476 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TGCCTATACATCCTGTCCAGC 0.647000 32 121 0 0 1 0 0 DCST2 127579 broad.mit.edu 37 1 154997067 154997067 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:154997067G>A ENST00000368424.3 - 11 1681 c.1623C>T c.(1621-1623)tcC>tcT p.S541S DCST2_ENST00000295536.5_Silent_p.S541S NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 541 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGTACAGGTAGGAGATCCTCT 0.592000 13 60 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138330043 138330043 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:138330043C>T ENST00000409968.1 + 17 3518 c.3340C>T c.(3340-3342)Ccc>Tcc p.P1114S THSD7B_ENST00000272643.3_Missense_Mutation_p.P1117S|THSD7B_ENST00000413152.2_Missense_Mutation_p.P1086S|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GGATGAAATTCCCCCAGAAAC 0.453000 9 36 0 0 1 0 0 FAM83G 644815 broad.mit.edu 37 17 18881490 18881490 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:18881490C>T ENST00000388995.6 - 5 1712 c.1489G>A c.(1489-1491)Gac>Aac p.D497N SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.D497N|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.D497N|SLC5A10_ENST00000395647.2_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 497 Pro-rich. central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 GGCTCAGGGTCCCCCTGGGGG 0.692000 22 56 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 275031 275031 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:275031G>A ENST00000538872.1 + 11 3064 c.2946G>A c.(2944-2946)acG>acA p.T982T IQSEC3_ENST00000382841.2_Silent_p.T679T|IQSEC3_ENST00000326261.4_Silent_p.T982T|RP11-598F7.5_ENST00000540136.1_RNA Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 982 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CTGAGGTGACGGAGCTGGAGC 0.597000 12 40 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133182591 133182591 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:133182591G>A ENST00000388996.4 - 8 1645 c.1225C>T c.(1225-1227)Cct>Tct p.P409S KCNQ3_ENST00000521134.1_Missense_Mutation_p.P289S|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P409S NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 409 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CTGAAGAAAGGAAAAGAGACG 0.542000 11 28 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139763744 139763744 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:139763744C>T ENST00000303045.6 - 22 2488 c.2042G>A c.(2041-2043)gGc>gAc p.G681D COL22A1_ENST00000435777.1_Missense_Mutation_p.G681D NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 681 Collagen-like 4.|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) GCCTTCTGGGCCTATTGGACC 0.463000 HNSCC(7;0.00092) 15 41 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55221763 55221763 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:55221763C>T ENST00000275493.2 + 7 984 c.807C>T c.(805-807)ctC>ctT p.L269L EGFR_ENST00000442591.1_Silent_p.L269L|EGFR_ENST00000344576.2_Silent_p.L269L|EGFR_ENST00000342916.3_Silent_p.L269L|EGFR_ENST00000455089.1_Silent_p.L224L|EGFR_ENST00000420316.2_Silent_p.L269L|EGFR_ENST00000454757.2_Silent_p.L216L NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 269 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CACTCATGCTCTACAACCCCA 0.577000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 27 82 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77375683 77375683 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:77375683G>A ENST00000282849.5 - 11 2046 c.1628C>T c.(1627-1629)tCa>tTa p.S543L NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 543 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GCACCAAAGTGATTTGCAAAT 0.373000 5 8 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44168965 44168965 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:44168965G>A ENST00000262726.7 - 4 411 c.158C>T c.(157-159)cCa>cTa p.P53L EFCAB6_ENST00000396231.2_Intron|EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000356087.4_Intron NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 53 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) GGACAGTGTTGGATTTGCAAC 0.388000 24 34 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38530690 38530690 + Missense_Mutation SNP C C T rs111432615 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:38530690C>T ENST00000263409.4 - 2 222 c.60G>A c.(58-60)atG>atA p.M20I LIFR_ENST00000453190.2_Missense_Mutation_p.M20I|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 20 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) AAGCAGTCCTCATTCTTTTAT 0.388000 T PLAG1 salivary adenoma 17 76 0 0 1 0 0 MYO1C 4641 broad.mit.edu 37 17 1372852 1372852 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:1372852C>T ENST00000359786.5 - 25 2907 c.2583G>A c.(2581-2583)cgG>cgA p.R861R MYO1C_ENST00000545534.2_Silent_p.R837R|MYO1C_ENST00000438665.2_Silent_p.R842R|MYO1C_ENST00000575158.1_Silent_p.R826R|MYO1C_ENST00000361007.2_Silent_p.R826R NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 861 mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGCTGATACTCCGGCAGTATT 0.587000 6 16 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215955487 215955487 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:215955487C>T ENST00000366943.2 - 54 11023 c.10637G>A c.(10636-10638)gGa>gAa p.G3546E USH2A_ENST00000307340.3_Missense_Mutation_p.G3546E O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3546 Fibronectin type-III 20. 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) CAGTGATGTTCCCCGAAAACG 0.393000 HNSCC(13;0.011) 67 43 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21129740 21129740 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:21129740C>T ENST00000377122.4 - 13 1662 c.1266G>A c.(1264-1266)ggG>ggA p.G422G NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 422 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CCATTCCTTTCCCTTTTATCT 0.333000 4 10 0 0 1 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47365945 47365945 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:47365945G>A ENST00000505841.1 - 0 164 NR_002788.2 TGTGGCCATAGAACCAGTGCG 0.483000 7 40 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36897322 36897322 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:36897322C>T ENST00000301807.6 - 12 4006 c.2109G>A c.(2107-2109)gtG>gtA p.V703V TRANK1_ENST00000428977.2_Silent_p.V703V|TRANK1_ENST00000429976.2_Silent_p.V1253V NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1253 P -> L (in dbSNP:rs17201603). DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AGTCCCCATCCACCTCAGCCT 0.478000 31 111 0 0 1 0 0 SPATA5L1 79029 broad.mit.edu 37 15 45706829 45706829 + Nonsense_Mutation SNP A A T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:45706829A>T ENST00000305560.6 + 4 1594 c.1495A>T c.(1495-1497)Aag>Tag p.K499* SPATA5L1_ENST00000559860.1_Nonsense_Mutation_p.K499* NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 499 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GACACAACCAAAGGGAGTTCT 0.478000 10 44 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65103622 65103622 + Missense_Mutation SNP T T A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:65103622T>A ENST00000358691.5 - 31 5070 c.4904A>T c.(4903-4905)aAt>aTt p.N1635I HELZ_ENST00000580168.1_Missense_Mutation_p.N1636I NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GCTGTTATCATTAAAGTTAGA 0.473000 35 146 0 0 1 0 0 TAL1 6886 broad.mit.edu 37 1 47685646 47685646 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:47685646C>T ENST00000371883.3 - 4 1324 c.748G>A c.(748-750)Gag>Aag p.E250K TAL1_ENST00000371884.2_Missense_Mutation_p.E248K|TAL1_ENST00000294339.3_Missense_Mutation_p.E248K|TAL1_ENST00000459729.1_5'UTR P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 248 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 GTGCCCTCCTCCTCCTGGTCA 0.642000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 12 26 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33916058 33916058 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:33916058C>T ENST00000389232.4 + 20 2478 c.2408C>T c.(2407-2409)cCc>cTc p.P803L RYR3_ENST00000415757.3_Missense_Mutation_p.P803L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 803 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) TTCCTGCCTCCCTCTGGCTAT 0.418000 19 78 0 0 1 0 0 C4A 720 broad.mit.edu 37 6 31962437 31962437 + Missense_Mutation SNP T T G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:31962437T>G ENST00000428956.2 + 21 2839 c.2755T>G c.(2755-2757)Ttc>Gtc p.F919V C4A_ENST00000498271.1_Missense_Mutation_p.F919V NM_007293.2 NP_009224.2 complement component 4A (Rodgers blood group) TCGAGGGTCCTTCGAATTCCC 0.627000 7 134 0 0 1 0 0 RRH 10692 broad.mit.edu 37 4 110763674 110763674 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:110763674C>T ENST00000317735.4 + 6 804 c.770C>T c.(769-771)tCc>tTc p.S257F NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 257 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) TCCCCTTATTCCATCGTGTGC 0.398000 23 98 0 0 1 0 0 LOC101929006 101929006 broad.mit.edu 37 6 29231741 29231741 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:29231741C>T ENST00000441381.1 + 0 212 GACCATATTTCCCATCAAAGA 0.423000 55 105 0 0 1 0 0 CORO1A 11151 broad.mit.edu 37 16 30198041 30198041 + Splice_Site SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:30198041G>A ENST00000219150.5 + 3 626 c.321_splice c.e3+1 p.M107_splice CORO1A_ENST00000565497.1_Splice_Site_p.M107_splice|CORO1A_ENST00000570045.1_Splice_Site_p.M107_splice NM_001193333.2|NM_007074.3 NP_001180262.1|NP_009005.1 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 107 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 9 GCACAGTCATGGTGAGTGGTG 0.622000 10 15 0 0 1 0 0 PLA1A 51365 broad.mit.edu 37 3 119336969 119336969 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:119336969G>A ENST00000273371.4 + 7 930 c.858G>A c.(856-858)aaG>aaA p.K286K PLA1A_ENST00000494440.1_Silent_p.K270K|PLA1A_ENST00000488919.1_Silent_p.K113K|PLA1A_ENST00000495992.1_Silent_p.K270K NM_015900.3 NP_056984.1 Q53H76 PLA1A_HUMAN phospholipase A1 member A 286 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CCAGCTACAAGGCCTTCCTTG 0.498000 66 245 0 0 1 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75557314 75557314 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:75557314C>T ENST00000604729.1 + 18 3910 c.3613C>T c.(3613-3615)Cgg>Tgg p.R1205W ZSWIM8_ENST00000605216.1_Missense_Mutation_p.R1200W|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R1205W|NDST2_ENST00000456638.1_5'UTR|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R1200W|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R1167W zinc finger, SWIM-type containing 8 TGGAAGTCGCCGGGCCAGTGC 0.637000 19 69 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653852 159653852 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:159653852C>T ENST00000297267.9 + 11 2508 c.2308C>T c.(2308-2310)Cat>Tat p.H770Y FNDC1_ENST00000340366.6_Missense_Mutation_p.H707Y NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 770 Ser-rich. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CGTCTCTTCTCATCTCTCGTC 0.627000 10 29 0 0 1 0 0 FAM19A4 151647 broad.mit.edu 37 3 68788229 68788229 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:68788229C>T ENST00000295569.7 - 5 900 c.408G>A c.(406-408)acG>acA p.T136T NM_001005527.2|NM_182522.4 NP_001005527.1|NP_872328.1 Q96LR4 F19A4_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 136 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2) 10 Lung NSC(201;0.0198) BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904) TACTTGCCTTCGTAGTTTTGA 0.408000 25 77 0 0 1 0 0 CSF2RA 1438 broad.mit.edu 37 X 1424418 1424418 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:1424418G>A ENST00000381524.3 + 12 1309 c.1123G>A c.(1123-1125)Gag>Aag p.E375K CSF2RA_ENST00000381509.3_Missense_Mutation_p.E375K|CSF2RA_ENST00000501036.2_Missense_Mutation_p.E242K|CSF2RA_ENST00000381529.3_Missense_Mutation_p.E375K|CSF2RA_ENST00000432318.2_Missense_Mutation_p.E375K|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.E409K|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000355432.3_Intron P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 375 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GGTGGAAGACGAGGTAGGCAG 0.567000 21 63 0 0 1 0 0 PPP1R3F 89801 broad.mit.edu 37 X 49142438 49142438 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:49142438C>T ENST00000055335.6 + 4 1302 c.1286C>T c.(1285-1287)tCc>tTc p.S429F PPP1R3F_ENST00000376188.1_Missense_Mutation_p.S83F|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.S100F|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.S83F|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.S83F NM_033215.4 NP_149992.3 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory subunit 3F 429 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4) 27 Ovarian(276;0.236) CTGGGTGGCTCCCCCAGAGAC 0.667000 3 14 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47578885 47578885 + Silent SNP C C A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:47578885C>A ENST00000273859.3 + 19 3731 c.3462C>A c.(3460-3462)ctC>ctA p.L1154L NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1154 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 TCAACCTCCTCTTCACATCTG 0.438000 62 171 4.46356e-37 4.51462e-37 1 1 0 CSMD3 114788 broad.mit.edu 37 8 114031325 114031325 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:114031325C>T ENST00000297405.5 - 6 1245 c.1001G>A c.(1000-1002)cGa>cAa p.R334Q CSMD3_ENST00000455883.2_Missense_Mutation_p.R334Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R334Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R294Q NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 334 CUB 2. 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 TCCACGGTATCGATGATTGCT 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 21 83 0 0 1 0 0 BTNL8 79908 broad.mit.edu 37 5 180374516 180374516 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:180374516C>T ENST00000231229.4 + 4 912 c.678C>T c.(676-678)acC>acT p.T226T BTNL8_ENST00000340184.4_Silent_p.T226T|BTNL8_ENST00000533815.2_Silent_p.T42T|BTNL8_ENST00000400707.3_Silent_p.T101T|BTNL8_ENST00000508408.1_Silent_p.T226T|BTNL8_ENST00000505126.1_Silent_p.T19T|BTNL8_ENST00000511704.1_Silent_p.T110T NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 226 integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTTCAGATACCTTTTTCGAGC 0.403000 48 167 0 0 1 0 0 ADCK1 57143 broad.mit.edu 37 14 78374167 78374167 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:78374167C>T ENST00000238561.5 + 7 862 c.763C>T c.(763-765)Ctg>Ttg p.L255L ADCK1_ENST00000341211.5_Silent_p.L187L NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 262 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) CCACTGGGACCTGTCCACGGA 0.577000 13 18 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141777598 141777598 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:141777598C>T ENST00000389484.3 - 12 2834 c.1863G>A c.(1861-1863)agG>agA p.R621R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 621 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) TAATGGTTTTCCTATGGCCAT 0.418000 TSP Lung(27;0.18) 27 83 0 0 1 0 0 COL23A1 91522 broad.mit.edu 37 5 177690242 177690242 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:177690242C>T ENST00000390654.3 - 9 963 c.606G>A c.(604-606)ggG>ggA p.G202G COL23A1_ENST00000407622.1_Silent_p.G166G NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 202 Collagen-like 1.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) GGCCATCTTTCCCAGTGTCGC 0.647000 9 34 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119106967 119106967 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:119106967G>A ENST00000328252.3 + 14 4126 c.3757G>A c.(3757-3759)Gat>Aat p.D1253N PAPPA_ENST00000534838.1_Missense_Mutation_p.D291N NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1253 Sushi 1. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GATACGGCGGGATGATGAGCT 0.567000 13 12 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17370413 17370413 + Silent SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:17370413T>C ENST00000252597.3 - 6 1070 c.897A>G c.(895-897)caA>caG p.Q299Q USHBP1_ENST00000431146.2_Silent_p.Q235Q NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 299 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 ACCCCCGGAGTTGCTCCATCT 0.567000 50 232 0 0 1 0 0 MTR 4548 broad.mit.edu 37 1 237057714 237057714 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:237057714C>T ENST00000366577.5 + 30 3656 c.3262C>T c.(3262-3264)Ccc>Tcc p.P1088S MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.P1037S NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 1088 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) CTTCATCGCTCCCTTGCATTC 0.562000 14 113 0 0 1 0 0 SAMD14 201191 broad.mit.edu 37 17 48195043 48195043 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:48195043C>T ENST00000330175.4 - 4 544 c.227G>A c.(226-228)gGg>gAg p.G76E SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.G76E NM_001257359.1 NP_001244288.1 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 76 breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 CAGGGGGCTCCCGCAGCCATC 0.706000 4 12 0 0 1 0 0 CD1D 912 broad.mit.edu 37 1 158152067 158152067 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:158152067C>T ENST00000368171.3 + 4 1073 c.574C>T c.(574-576)Ctt>Ttt p.L192F NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 192 Ig-like. antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) CAGTGGCCTCCTTGAGTCAGG 0.542000 22 288 0 0 1 0 0 H2BFWT 158983 broad.mit.edu 37 X 103268115 103268115 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:103268115C>T ENST00000217926.5 - 1 144 c.118G>A c.(118-120)Gaa>Aaa p.E40K NM_001002916.3 NP_001002916.2 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 40 nucleosome assembly nuclear membrane|nucleosome DNA binding breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 ATCAGCTGTTCCTCAGAGGTC 0.637000 11 13 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3218304 3218304 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:3218304C>T ENST00000380056.3 - 1 69 c.22G>A c.(22-24)Gga>Aga p.G8R SLC4A11_ENST00000474451.1_Intron|SLC4A11_ENST00000539553.1_Intron|SLC4A11_ENST00000380059.3_Intron NM_032034.3 NP_114423.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 8 cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 CACCTGTCTCCCCGCCCCCCG 0.622000 31 117 0 0 1 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377328 125377328 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:125377328C>T ENST00000297913.2 + 1 381 c.312C>T c.(310-312)ttC>ttT p.F104F RP11-64P14.7_ENST00000431442.1_RNA NM_012364.1 NP_036496.1 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, member 1 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 CTTATTTCTTCATTTGCTTCG 0.468000 75 106 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81611886 81611886 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:81611886G>A ENST00000356860.3 - 24 2290 c.1952C>T c.(1951-1953)cCa>cTa p.P651L CACNA2D1_ENST00000356253.5_Missense_Mutation_p.P663L NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 663 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) AACCAACCTTGGTGCTATGAA 0.373000 10 67 0 0 1 0 0 KIAA0895 23366 broad.mit.edu 37 7 36366506 36366506 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:36366506G>A ENST00000317020.6 - 6 1573 c.1273C>T c.(1273-1275)Cgc>Tgc p.R425C KIAA0895_ENST00000297063.6_Missense_Mutation_p.R476C|KIAA0895_ENST00000338533.5_Missense_Mutation_p.R463C|KIAA0895_ENST00000436884.1_Missense_Mutation_p.R373C|KIAA0895_ENST00000440378.1_Missense_Mutation_p.R473C|KIAA0895_ENST00000453212.1_Missense_Mutation_p.R231C NM_015314.2 NP_056129.2 Q8NCT3 K0895_HUMAN KIAA0895 476 p.R476C(1)|p.R463C(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 CCTTTTAAGCGATCCACATCT 0.383000 21 81 0 0 1 0 0 MIR329-1 574408 broad.mit.edu 37 14 101493169 101493169 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:101493169G>A ENST00000385028.1 + 0 48 NR_029967.1 TAATGAGGACGAAACACACCT 0.468000 18 86 0 0 1 0 0 BTG1 694 broad.mit.edu 37 12 92537926 92537926 + Missense_Mutation SNP C C A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:92537926C>A ENST00000256015.3 - 2 807 c.446G>T c.(445-447)tGt>tTt p.C149F NM_001731.2 NP_001722.1 P62324 BTG1_HUMAN B-cell translocation gene 1, anti-proliferative 149 cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|transcription cofactor activity haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2) 16 Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09) TTCCTCCTTACAGCTGATTCG 0.473000 T MYC BCLL OREG0022024 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 62 5.26018e-13 5.30757e-13 1 1 0 AFAP1 60312 broad.mit.edu 37 4 7774577 7774577 + Silent SNP G G A rs145238950 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:7774577G>A ENST00000420658.1 - 16 2495 c.2223C>T c.(2221-2223)atC>atT p.I741I AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Silent_p.I657I|AFAP1_ENST00000382543.3_Silent_p.I741I|AFAP1_ENST00000360265.4_Silent_p.I657I NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 657 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 ACTTGGGCTCGATGGCCAGCC 0.667000 10 40 0 0 1 0 0 APOBR 55911 broad.mit.edu 37 16 28509528 28509528 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:28509528G>A ENST00000564831.1 + 3 3115 c.3082G>A c.(3082-3084)Gag>Aag p.E1028K APOBR_ENST00000431282.1_Missense_Mutation_p.E1019K|APOBR_ENST00000328423.5_Missense_Mutation_p.E1019K NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 1019 cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 GCAGCAGGAGGAGCCCCCAGC 0.662000 4 15 0 0 1 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166250 180166250 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:180166250C>T ENST00000307832.2 - 1 849 c.809G>A c.(808-810)gGa>gAa p.G270E NM_001001657.1 NP_001001657.1 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, member 1 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AACAAATTTTCCCTCACGCTC 0.413000 30 108 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76063411 76063411 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:76063411G>A ENST00000260045.3 - 5 888 c.783C>T c.(781-783)tcC>tcT p.S261S NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 261 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 CAGTGATAATGGAAAAGAAGT 0.428000 23 48 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2876151 2876151 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:2876151G>A ENST00000520002.1 - 53 8435 c.7880C>T c.(7879-7881)tCc>tTc p.S2627F CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.S2627F|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.S2626F Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2627 Sushi 17. integral to membrane p.S2355F(1)|p.S2626F(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGGGGGAAAGGAAAGGCTTCC 0.423000 26 70 0 0 1 0 0 VSIG2 23584 broad.mit.edu 37 11 124620743 124620743 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:124620743G>A ENST00000403470.1 - 3 349 c.294C>T c.(292-294)ccC>ccT p.P98P VSIG2_ENST00000326621.5_Silent_p.P98P Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 98 Ig-like V-type. integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|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;0.0215) CCACTGTGGGGGGGTTCTGAA 0.532000 12 34 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94041910 94041910 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:94041910C>T ENST00000297268.6 + 25 1890 c.1419C>T c.(1417-1419)atC>atT p.I473I NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 473 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TCCCTGGCATCGACGGCAGGC 0.517000 HNSCC(75;0.22) 12 25 0 0 1 0 0 DCTN5 84516 broad.mit.edu 37 16 23672551 23672551 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:23672551C>T ENST00000300087.2 + 4 448 c.297C>T c.(295-297)gtC>gtT p.V99V DCTN5_ENST00000568589.1_Silent_p.V99V|DCTN5_ENST00000563998.1_Silent_p.V99V NM_001199743.1|NM_032486.3 NP_001186672.1|NP_115875.1 Q9BTE1 DCTN5_HUMAN dynactin 5 (p25) 99 centrosome transferase activity endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(48;0.0156) ATTGTGTGGTCAACGCAGCAC 0.418000 10 46 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 6885221 6885221 + Missense_Mutation SNP C C G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:6885221C>G ENST00000303635.7 + 3 392 c.185C>G c.(184-186)cCg>cGg p.P62R CAMTA1_ENST00000467404.2_Missense_Mutation_p.P74R|CAMTA1_ENST00000473578.1_Missense_Mutation_p.P62R|CAMTA1_ENST00000557126.1_Missense_Mutation_p.P62R|CAMTA1_ENST00000439411.2_Missense_Mutation_p.P62R|CAMTA1_ENST00000476163.1_3'UTR NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 62 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GAATGTCTGCCGAAATGTTCA 0.323000 T WWTR1 epitheliod hemangioendothelioma 20 45 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24923764 24923764 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:24923764G>A ENST00000329468.2 + 1 3224 c.2750G>A c.(2749-2751)gGg>gAg p.G917E NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TTTATTCTGGGGAATCCAGCA 0.478000 29 110 0 0 1 0 0 ANO1 55107 broad.mit.edu 37 11 69972245 69972245 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:69972245C>T ENST00000355303.5 + 10 1346 c.1041C>T c.(1039-1041)atC>atT p.I347I ANO1_ENST00000316296.5_Silent_p.I319I|ANO1_ENST00000538023.1_Silent_p.I347I|ANO1_ENST00000530676.1_Silent_p.I231I|ANO1_ENST00000398543.2_Silent_p.I231I|ANO1_ENST00000531349.1_Silent_p.I82I NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 347 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 CTGCCTCCATCGTGGGAATCA 0.592000 14 49 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73461026 73461026 + Splice_Site SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:73461026G>A ENST00000252034.7 + 12 971 c.571_splice c.e12-1 p.G191_splice ELN_ENST00000380553.4_Splice_Site_p.G88_splice|ELN_ENST00000380576.5_Splice_Site_p.G191_splice|ELN_ENST00000380562.4_Splice_Site_p.G191_splice|ELN_ENST00000414324.1_Splice_Site_p.G186_splice|ELN_ENST00000429192.1_Splice_Site_p.G196_splice|ELN_ENST00000380575.4_Splice_Site_p.G181_splice|ELN_ENST00000320399.6_Splice_Site_p.G191_splice|ELN_ENST00000320492.7_Splice_Site_p.G169_splice|ELN_ENST00000458204.1_Splice_Site_p.G181_splice|ELN_ENST00000357036.5_Splice_Site_p.G196_splice|ELN_ENST00000445912.1_Splice_Site_p.G191_splice|ELN_ENST00000380584.4_Splice_Site_p.G191_splice|ELN_ENST00000358929.4_Splice_Site_p.G191_splice NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 191 blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) ATTCCCACAGGAGTTGGACCC 0.582000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 11 63 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42048299 42048299 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:42048299C>T ENST00000372584.1 - 3 3184 c.2170G>A c.(2170-2172)Gag>Aag p.E724K HIVEP3_ENST00000372583.1_Missense_Mutation_p.E724K|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E724K|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E724K NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 724 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGCTCTTCCTCGTCCCCAAGG 0.557000 15 57 0 0 1 0 0 ULK1 8408 broad.mit.edu 37 12 132400953 132400953 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:132400953C>T ENST00000321867.4 + 20 2240 c.1889C>T c.(1888-1890)tCc>tTc p.S630F NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 630 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) GCTGTGCCCTCCTTTGACTTC 0.687000 23 110 0 0 1 0 0 TCF7L2 6934 broad.mit.edu 37 10 114925695 114925695 + Silent SNP C C T rs66702705 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:114925695C>T ENST00000545257.1 + 15 2331 c.1824C>T c.(1822-1824)ccC>ccT p.P608P TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000536810.1_Silent_p.P591P|TCF7L2_ENST00000543371.1_Silent_p.P591P|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000355995.4_Silent_p.P608P|TCF7L2_ENST00000542695.1_Silent_p.P324P|TCF7L2_ENST00000369397.4_Silent_p.P585P Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 608 anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) GGACCCAGCCCCAGCCGCTGT 0.562000 T VTI1A colorectal 19 94 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80620361 80620361 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:80620361C>T ENST00000466387.1 + 12 1806 c.1082C>T c.(1081-1083)cCt>cTt p.P361L CTNNA2_ENST00000541047.1_Missense_Mutation_p.P361L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.P361L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.P361L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.P395L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.P40L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.P361L P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 361 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AAAGGAGATCCTCTCAACATT 0.289000 11 60 0 0 1 0 0 HCAR3 8843 broad.mit.edu 37 12 123200386 123200386 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:123200386G>A ENST00000528880.2 - 1 1053 c.899C>T c.(898-900)tCc>tTc p.S300F HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 300 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) GTTGGGAAAGGATGGGCTGGA 0.537000 8 24 0 0 1 0 0 SPOCK1 6695 broad.mit.edu 37 5 136476275 136476275 + Missense_Mutation SNP A A G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:136476275A>G ENST00000394945.1 - 4 510 c.341T>C c.(340-342)cTc>cCc p.L114P SPOCK1_ENST00000282223.7_Missense_Mutation_p.L114P NM_004598.3 NP_004589.1 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 114 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTACCTGGGGAGCAGGTGCTT 0.612000 7 20 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43862509 43862509 + Splice_Site SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:43862509C>T ENST00000389420.3 - 8 1117 c.e8-1 ADAMTS20_ENST00000553158.1_Splice_Site NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TATGATAAACCTGAAAAATTT 0.294000 8 31 0 0 1 0 0 ELP4 26610 broad.mit.edu 37 11 31669308 31669308 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:31669308G>A ENST00000395934.2 + 8 954 c.947G>A c.(946-948)cGt>cAt p.R316H ELP4_ENST00000379163.5_Missense_Mutation_p.R317H|Z83001.1_ENST00000429821.1_RNA|ELP4_ENST00000350638.5_Missense_Mutation_p.R316H Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 316 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) ATTATTGCCCGTGTCACAACC 0.333000 22 71 0 0 1 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44507259 44507259 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:44507259C>T ENST00000255152.2 + 2 2271 c.2062C>T c.(2062-2064)Cct>Tct p.P688S ZSWIM3_ENST00000454862.2_Missense_Mutation_p.P682S NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 688 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) GGAGGGATTCCCTCCTGCTAC 0.527000 46 89 0 0 1 0 0 ALOX5 240 broad.mit.edu 37 10 45938942 45938942 + Silent SNP G G T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:45938942G>T ENST00000374391.2 + 11 1583 c.1530G>T c.(1528-1530)gtG>gtT p.V510V ALOX5_ENST00000542434.1_Silent_p.V510V NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 510 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) AGGACTTCGTGAACGATGTCT 0.692000 8 36 0.000274275 0.000275094 1 1 0 ST18 9705 broad.mit.edu 37 8 53044608 53044608 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:53044608C>T ENST00000276480.7 - 22 3259 c.2576G>A c.(2575-2577)tGg>tAg p.W859* NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 859 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GTTCAGTTTCCAGGAGAGGGA 0.498000 16 56 0 0 1 0 0 IGSF3 3321 broad.mit.edu 37 1 117146260 117146260 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:117146260G>A ENST00000369486.3 - 6 2375 c.1610C>T c.(1609-1611)tCc>tTc p.S537F IGSF3_ENST00000369483.1_Missense_Mutation_p.S557F|IGSF3_ENST00000318837.6_Missense_Mutation_p.S557F NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 537 Ig-like C2-type 4. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) AGCTGTGATGGAGATGGGAGT 0.577000 12 51 0 0 1 0 0 CAPN15 6650 broad.mit.edu 37 16 597450 597450 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:597450C>T ENST00000219611.2 + 4 975 c.612C>T c.(610-612)ctC>ctT p.L204L LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 CACCTGGCCTCCCCGGGGAAG 0.741000 5 13 0 0 1 0 0 SLC16A12 387700 broad.mit.edu 37 10 91195977 91195977 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:91195977G>A ENST00000341233.4 - 7 1428 c.1038C>T c.(1036-1038)ctC>ctT p.L346L SLC16A12_ENST00000371790.4_Silent_p.L376L NM_213606.3 NP_998771.3 Q6ZSM3 MOT12_HUMAN solute carrier family 16, member 12 346 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1) 14 AGAAAGGCACGAGCAGAGGGA 0.493000 11 45 0 0 1 0 0 SLC22A2 6582 broad.mit.edu 37 6 160679555 160679555 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:160679555C>T ENST00000366952.1 - 3 1653 c.172G>A c.(172-174)Gga>Aga p.G58R SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.G79R O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 79 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) CCCGCAGGTCCTGGGCCCGGC 0.682000 23 48 0 0 1 0 0 TRBV7-7 28591 broad.mit.edu 37 7 142120278 142120278 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:142120278C>T ENST00000390377.1 - 0 43 CTCACCTGTCCCTAGGAAACC 0.488000 81 139 0 0 1 0 0 LPAR3 23566 broad.mit.edu 37 1 85331620 85331620 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:85331620G>A ENST00000440886.1 - 1 222 c.184C>T c.(184-186)Cat>Tat p.H62Y LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.H62Y Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 62 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 AAGGGGAAATGAAATTTTCTG 0.393000 28 98 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35691312 35691312 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:35691312G>A ENST00000440995.2 + 11 1698 c.1698G>A c.(1696-1698)ggG>ggA p.G566G CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Silent_p.G566G|SPEF2_ENST00000356031.3_Silent_p.G566G Q9C093 SPEF2_HUMAN sperm flagellar 2 566 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCTTATTGGGGAAAACATTAA 0.398000 28 78 0 0 1 0 0 APOM 55937 broad.mit.edu 37 6 31624326 31624326 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:31624326C>T ENST00000375916.3 + 2 688 c.192C>T c.(190-192)gaC>gaT p.D64D APOM_ENST00000375918.2_5'UTR|APOM_ENST00000375920.4_5'UTR NM_019101.2 NP_061974.2 O95445 APOM_HUMAN apolipoprotein M 64 cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle binding|lipid transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1) 7 CAACTTTTGACCCTGTGGACA 0.557000 26 145 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373279 86373279 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:86373279C>T ENST00000604798.1 - 8 2429 c.1225G>A c.(1225-1227)Gga>Aga p.G409R MGAT4C_ENST00000393205.2_Missense_Mutation_p.G438R|MGAT4C_ENST00000332156.1_Missense_Mutation_p.G409R|MGAT4C_ENST00000548651.1_Missense_Mutation_p.G409R|MGAT4C_ENST00000549405.2_Missense_Mutation_p.G409R|MGAT4C_ENST00000552808.2_Missense_Mutation_p.G409R Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 409 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding p.G409*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TCTAGGGCTCCATGATGCAAA 0.313000 7 55 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24522949 24522949 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:24522949C>T ENST00000355123.4 - 12 1616 c.1173G>A c.(1171-1173)agG>agA p.R391R ITSN2_ENST00000361999.3_Silent_p.R391R|ITSN2_ENST00000406921.3_Silent_p.R391R NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 391 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTTCTGCCTCCCTTTGTTGCT 0.438000 41 145 0 0 1 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269244 150269244 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:150269244C>T ENST00000255945.2 + 3 261 c.86C>T c.(85-87)tCc>tTc p.S29F GIMAP4_ENST00000461940.1_Missense_Mutation_p.S43F|GIMAP4_ENST00000494750.1_3'UTR NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 29 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCAGAAATTCCCAATTGAGA 0.463000 15 99 0 0 1 0 0 HTR4 3360 broad.mit.edu 37 5 147889195 147889195 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:147889195G>A ENST00000360693.3 - 6 1038 c.900C>T c.(898-900)ctC>ctT p.L300L HTR4_ENST00000520514.1_Silent_p.L300L|HTR4_ENST00000521530.1_Silent_p.L300L|HTR4_ENST00000314512.6_Silent_p.L300L|HTR4_ENST00000354217.2_Silent_p.L300L|HTR4_ENST00000362016.2_Silent_p.L314L|HTR4_ENST00000517929.1_Silent_p.L300L|HTR4_ENST00000521735.1_Silent_p.L300L|HTR4_ENST00000377888.3_Silent_p.L300L NM_001040173.2 NP_001035263.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 300 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) TGATATAGCCGAGCCAGAGGA 0.493000 6 61 0 0 1 0 0 POR 5447 broad.mit.edu 37 7 75583414 75583414 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:75583414C>T ENST00000394893.1 + 2 124 c.104C>T c.(103-105)tCg>tTg p.S35L POR_ENST00000419840.1_5'UTR|POR_ENST00000461988.1_Missense_Mutation_p.S35L P16435 NCPR_HUMAN P450 (cytochrome) oxidoreductase 32 cellular organofluorine metabolic process|positive regulation of monooxygenase activity endoplasmic reticulum membrane iron ion binding|NADPH-hemoprotein reductase activity central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1) 9 Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665) ATTCTGTTTTCGCTCATCGTG 0.502000 4 18 0 0 1 0 0 INSIG1 3638 broad.mit.edu 37 7 155093325 155093325 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:155093325C>T ENST00000340368.4 + 3 673 c.462C>T c.(460-462)ccC>ccT p.P154P INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_Intron NM_005542.4 NP_005533.2 O15503 INSI1_HUMAN insulin induced gene 1 154 cell proliferation|ER-nuclear sterol response pathway endoplasmic reticulum membrane|integral to membrane protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 19 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCGGAGAACCCCACAAATTTA 0.438000 23 172 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891447 18891447 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:18891447G>A ENST00000317658.3 + 1 403 c.245G>A c.(244-246)cGa>cAa p.R82Q NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 82 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) GGCGACTACCGATTTTTTGAC 0.418000 16 54 0 0 1 0 0 RCOR3 55758 broad.mit.edu 37 1 211451545 211451545 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:211451545G>A ENST00000367005.4 + 5 570 c.429G>A c.(427-429)caG>caA p.Q143Q RCOR3_ENST00000367006.4_Silent_p.Q201Q|RCOR3_ENST00000419091.2_Silent_p.Q201Q|RCOR3_ENST00000452621.2_Silent_p.Q201Q NM_018254.3 NP_060724.1 Q9P2K3 RCOR3_HUMAN REST corepressor 3 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) TGGATCGCCAGGCTCGTAAAC 0.363000 22 195 0 0 1 0 0 SERPINA4 5267 broad.mit.edu 37 14 95033382 95033382 + Missense_Mutation SNP G G A rs140397956 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:95033382G>A ENST00000557004.1 + 3 1146 c.725G>A c.(724-726)cGg>cAg p.R242Q SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R242Q|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R242Q P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 242 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity p.R242Q(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) ACAACAGTCCGGGTGCCCATG 0.498000 19 42 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103927 53103927 + Missense_Mutation SNP G G A rs1689291 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:53103927G>A ENST00000408890.4 + 1 579 c.563G>A c.(562-564)gGa>gAa p.G188E NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 188 G -> E (in dbSNP:rs1689291). endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 TGCCCCAAGGGAAGCGCTAGG 0.716000 25 103 0 0 1 0 0 C22orf43 51233 broad.mit.edu 37 22 23959838 23959838 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:23959838G>A ENST00000317749.5 - 7 740 c.443C>T c.(442-444)tCt>tTt p.S148F NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 148 Asp-rich. endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 GTTGTCCTCAGAAGAACCTGG 0.473000 23 50 0 0 1 0 0 PROC 5624 broad.mit.edu 37 2 128178999 128178999 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:128178999G>A ENST00000453608.2 + 3 282 c.274G>A c.(274-276)Gaa>Aaa p.E92K PROC_ENST00000234071.3_Missense_Mutation_p.E71K|PROC_ENST00000409048.1_Missense_Mutation_p.E71K|PROC_ENST00000422777.3_Missense_Mutation_p.E71K P04070 PROC_HUMAN protein C (inactivator of coagulation factors Va and VIIIa) 71 blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) GGAGGCCAAGGAAATTTTCCA 0.587000 16 39 0 0 1 0 0 LBP 3929 broad.mit.edu 37 20 36993331 36993331 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:36993331G>A ENST00000217407.2 + 8 1007 c.846G>A c.(844-846)tcG>tcA p.S282S NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 282 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) TTGCCATCTCGGATTATGTCT 0.473000 73 128 0 0 1 0 0 ITPRIPL2 162073 broad.mit.edu 37 16 19126642 19126642 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:19126642C>T ENST00000381440.3 + 1 1389 c.859C>T c.(859-861)Ccc>Tcc p.P287S CTD-2349B8.1_ENST00000564808.2_Intron NM_001034841.3 NP_001030013.1 Q3MIP1 IPIL2_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 2 287 integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 GGAACAGCCCCCCACCTTACA 0.632000 OREG0023657 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 99 0 0 1 0 0 NEUROD2 4761 broad.mit.edu 37 17 37762256 37762256 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:37762256G>A ENST00000302584.4 - 2 817 c.597C>T c.(595-597)ccC>ccT p.P199P NM_006160.3 NP_006151.3 Q15784 NDF2_HUMAN neuronal differentiation 2 199 cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter nucleus E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664) GATTGGTGGTGGGCTGCGACA 0.652000 8 27 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139696702 139696702 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:139696702C>T ENST00000303045.6 - 39 3424 c.2978G>A c.(2977-2979)gGa>gAa p.G993E COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G993E NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 993 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) TCCAGGTGATCCACGGAGTCC 0.512000 HNSCC(7;0.00092) 50 99 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79391213 79391213 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:79391213G>A ENST00000264895.6 + 51 7779 c.7339G>A c.(7339-7341)Gga>Aga p.G2447R NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2446 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CACCAACCTGGGACTCCAGTG 0.532000 13 26 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072780 17072780 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:17072780C>T ENST00000359963.3 - 1 920 c.661G>A c.(661-663)Ggg>Agg p.G221R NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 221 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) ATTGCTAACCCCGGGAGGAGG 0.597000 14 518 0 0 1 0 0 C1orf116 79098 broad.mit.edu 37 1 207196515 207196515 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:207196515G>A ENST00000359470.5 - 4 843 c.594C>T c.(592-594)atC>atT p.I198I C1orf116_ENST00000461135.2_5'UTR NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 198 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) CTGGCGGAGGGATGAGCACCA 0.662000 128 209 0 0 1 0 0 SAFB2 9667 broad.mit.edu 37 19 5610023 5610023 + Missense_Mutation SNP A A C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:5610023A>C ENST00000252542.4 - 9 1543 c.1279T>G c.(1279-1281)Ttc>Gtc p.F427V SAFB2_ENST00000591310.1_5'UTR NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 427 RRM. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) TACTTGCTGAAAAGGTTCTTG 0.557000 8 25 0 0 1 0 0 FIP1L1 81608 broad.mit.edu 37 4 54256001 54256001 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:54256001C>T ENST00000507166.1 + 6 358 c.358C>T c.(358-360)Ctt>Ttt p.L120F FIP1L1_ENST00000510668.1_3'UTR|FIP1L1_ENST00000507922.1_Missense_Mutation_p.L105F|FIP1L1_ENST00000358575.5_Missense_Mutation_p.L105F|FIP1L1_ENST00000337488.6_Missense_Mutation_p.L120F|FIP1L1_ENST00000306932.6_Missense_Mutation_p.L105F Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 120 Necessary for stimulating PAPOLA activity. mRNA processing nucleus RNA binding large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) ACCTGTAAATCTTAACATCAA 0.308000 T PDGFRA idiopathic hypereosinophilic syndrome 9 43 0 0 1 0 0 CREB5 9586 broad.mit.edu 37 7 28857793 28857793 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:28857793C>T ENST00000357727.2 + 10 1750 c.1360C>T c.(1360-1362)Cta>Tta p.L454L CREB5_ENST00000409603.1_Silent_p.L421L|CREB5_ENST00000396298.2_Silent_p.L315L|CREB5_ENST00000396299.2_Silent_p.L421L|CREB5_ENST00000396300.2_Silent_p.L447L NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 454 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 ACAAGGATATCTAAGTAAGTC 0.368000 27 43 0 0 1 0 0 KIAA0408 9729 broad.mit.edu 37 6 127771326 127771326 + Missense_Mutation SNP T T G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:127771326T>G ENST00000483725.3 - 3 643 c.307A>C c.(307-309)Aaa>Caa p.K103Q SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 103 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TTATTTTCTTTTCTCAGACCA 0.358000 20 38 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121136 38121136 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:38121136C>T ENST00000406386.3 + 7 2828 c.2573C>T c.(2572-2574)tCc>tTc p.S858F RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 858 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.S858F(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CAGTCCTTTTCCTTTCAACGA 0.488000 33 208 0 0 1 0 0 SMTN 6525 broad.mit.edu 37 22 31493300 31493300 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:31493300C>T ENST00000333137.7 + 16 2353 c.2135C>T c.(2134-2136)tCc>tTc p.S712F SMTN_ENST00000358743.1_Missense_Mutation_p.S712F|SMTN_ENST00000404574.1_Missense_Mutation_p.S235F|SMTN_ENST00000347557.2_Missense_Mutation_p.S712F NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 712 Poly-Ser. muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 TTCTCCTCTTCCTCCTCATCC 0.557000 92 80 0 0 1 0 0 CHRNB4 1143 broad.mit.edu 37 15 78921495 78921495 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:78921495C>T ENST00000261751.3 - 5 1263 c.1152G>A c.(1150-1152)ggG>ggA p.G384G CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 384 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 ACATGGAGTTCCCATAGAAGT 0.647000 9 26 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110478892 110478892 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:110478892C>T ENST00000378402.5 + 50 8603 c.8499C>T c.(8497-8499)ttC>ttT p.F2833F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2833 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GCATTGGGTTCCCTGGATCAG 0.478000 HNSCC(38;0.096) 9 13 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5745945 5745945 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:5745945C>T ENST00000381624.3 + 9 740 c.679C>T c.(679-681)Cac>Tac p.H227Y CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 227 integral to membrane GTACTCAGATCACCCCCTCAA 0.532000 65 201 0 0 1 0 0 MAN2C1 4123 broad.mit.edu 37 15 75651149 75651149 + Splice_Site SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:75651149C>T ENST00000565683.1 - 19 2204 c.2192_splice c.e19-1 p.R731_splice MAN2C1_ENST00000563622.1_Splice_Site_p.R615_splice|MAN2C1_ENST00000267978.5_Splice_Site_p.R714_splice|MAN2C1_ENST00000569482.1_Splice_Site_p.R714_splice NM_001256494.1 NP_001243423.1 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 714 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 CAATGGCCTCCCTGGAAGGAC 0.572000 4 14 0 0 1 0 0 GAPDH 2597 broad.mit.edu 37 12 6644007 6644007 + Translation_Start_Site SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:6644007G>A ENST00000396856.1 + 0 70 GAPDH_ENST00000396861.1_Silent_p.K3K|GAPDH_ENST00000396859.1_Silent_p.K3K|GAPDH_ENST00000229239.5_Silent_p.K3K P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4) 7 NADH(DB00157) CCATGGGGAAGGTGAAGGTCG 0.706000 8 59 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141232874 141232874 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:141232874G>A ENST00000389484.3 - 60 10429 c.9458C>T c.(9457-9459)cCt>cTt p.P3153L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3153 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) GCCAATATGAGGATACTCGCA 0.353000 TSP Lung(27;0.18) 13 28 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35619164 35619164 + Nonsense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr13:35619164C>T ENST00000540320.1 + 3 1141 c.607C>T c.(607-609)Cga>Tga p.R203* NBEA_ENST00000379939.2_Nonsense_Mutation_p.R203*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.R203*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.R203* Q8NFP9 NBEA_HUMAN neurobeachin 203 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) CAGCATGCTTCGAGGAGAAAG 0.408000 5 17 0 0 1 0 0 DBT 1629 broad.mit.edu 37 1 100684190 100684190 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:100684190C>T ENST00000370132.3 - 5 560 c.547G>A c.(547-549)Gaa>Aaa p.E183K DBT_ENST00000370131.3_Missense_Mutation_p.E183K NM_001918.3 NP_001909.3 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase E2 183 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1) 19 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) ACATTGTTTTCCATTGCCAGA 0.393000 29 92 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559336 140559336 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140559336C>T ENST00000239444.2 + 1 1966 c.1721C>T c.(1720-1722)aCc>aTc p.T574I NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 574 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGCCCTGCACCGAGCTGGTG 0.701000 10 185 0 0 1 0 0 TTLL8 164714 broad.mit.edu 37 22 50469154 50469154 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:50469154C>T ENST00000266182.6 - 12 1907 c.1908G>A c.(1906-1908)cgG>cgA p.R636R TTLL8_ENST00000440475.1_Silent_p.R616R tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) GTCCCAAGTCCCGCTGGAGAG 0.706000 16 11 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181546919 181546919 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:181546919G>A ENST00000526775.1 + 4 695 c.530G>A c.(529-531)gGa>gAa p.G177E CACNA1E_ENST00000357570.5_Missense_Mutation_p.G128E|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G177E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G177E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G128E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G177E NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 177 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GCCACTGCAGGAACCCACTTC 0.577000 5 20 0 0 1 0 0 PVRL4 81607 broad.mit.edu 37 1 161047499 161047499 + Silent SNP T T G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:161047499T>G ENST00000368012.3 - 3 776 c.474A>C c.(472-474)gcA>gcC p.A158A NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 158 Ig-like C2-type 1. adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CCTCTTCTAGTGCTGGACCAG 0.637000 31 58 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20335338 20335338 + Missense_Mutation SNP C C T rs147629855 by1000genomes TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:20335338C>T ENST00000302555.5 - 3 484 c.335G>A c.(334-336)cGa>cAa p.R112Q GP2_ENST00000341642.5_Intron|GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.R112Q P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 112 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TGTCTGGCATCGGTGCACCTG 0.597000 32 68 0 0 1 0 0 PVRIG 79037 broad.mit.edu 37 7 99817763 99817763 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:99817763C>T ENST00000317271.2 + 3 508 c.145C>T c.(145-147)Cgg>Tgg p.R49W GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA NM_024070.3 NP_076975.2 Q6DKI7 PVRIG_HUMAN poliovirus receptor related immunoglobulin domain containing 49 integral to membrane breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2) 11 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGTTCAAGTTCGGATGGAGGC 0.647000 6 15 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62463005 62463005 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:62463005C>T ENST00000430451.2 + 1 465 c.268C>T c.(268-270)Cat>Tat p.H90Y SYT16_ENST00000446982.2_Missense_Mutation_p.H90Y NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 90 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) TGAAGTGGATCATTTCTCATG 0.398000 20 112 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147040868 147040868 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:147040868C>T ENST00000265272.5 - 3 737 c.270G>A c.(268-270)gaG>gaA p.E90E JAKMIP2_ENST00000507386.1_Silent_p.E90E|JAKMIP2_ENST00000333010.6_Silent_p.E48E NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 90 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATAAGGTTCTCCCTCACAG 0.557000 45 178 0 0 1 0 0 FBXW12 285231 broad.mit.edu 37 3 48423328 48423328 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:48423328G>A ENST00000296438.5 + 9 1310 c.1124G>A c.(1123-1125)cGa>cAa p.R375Q FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000445170.1_Missense_Mutation_p.R356Q|FBXW12_ENST00000436231.1_Missense_Mutation_p.R218Q|FBXW12_ENST00000415155.1_Missense_Mutation_p.R305Q NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 375 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTGCTGCAACGATTTGAGGAC 0.473000 21 50 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62713308 62713308 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:62713308C>T ENST00000371153.4 - 9 3097 c.2719G>A c.(2719-2721)Gac>Aac p.D907N KANK4_ENST00000371150.1_Missense_Mutation_p.D263N|KANK4_ENST00000354381.3_Missense_Mutation_p.D279N|KANK4_ENST00000317477.4_Missense_Mutation_p.D45N NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 907 p.D907N(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 TCCTCCCTGTCGTGGCTGACT 0.622000 16 70 0 0 1 0 0 RGL3 57139 broad.mit.edu 37 19 11526640 11526640 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:11526640C>T ENST00000380456.3 - 5 673 c.610G>A c.(610-612)Gaa>Aaa p.E204K RGL3_ENST00000393423.3_Missense_Mutation_p.E204K NM_001035223.2|NM_001161616.1 NP_001030300.2|NP_001155088.1 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation stimulator-like 3 204 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1) 18 GGCTCCTCTTCCTGCTCTCGC 0.562000 62 267 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41551013 41551013 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr21:41551013C>T ENST00000400454.1 - 15 3265 c.2788G>A c.(2788-2790)Gat>Aat p.D930N NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 930 Fibronectin type-III 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGAGCAGAATCCCAGGAGTCT 0.433000 13 49 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064379 9064379 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:9064379G>A ENST00000397910.4 - 3 23270 c.23067C>T c.(23065-23067)tcC>tcT p.S7689S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7691 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 AAGACAGCGGGGAGGATGGAG 0.557000 16 59 0 0 1 0 0 PLBD2 196463 broad.mit.edu 37 12 113821969 113821969 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:113821969C>T ENST00000280800.3 + 7 1048 c.1017C>T c.(1015-1017)ccC>ccT p.P339P PLBD2_ENST00000545182.2_Silent_p.P339P NM_173542.3 NP_775813.2 Q8NHP8 PLBL2_HUMAN phospholipase B domain containing 2 339 lipid catabolic process lysosomal lumen hydrolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 ATGTGCGGCCCAGGGGCTGTG 0.617000 12 31 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32137076 32137076 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:32137076C>T ENST00000312561.4 + 4 3601 c.3187C>T c.(3187-3189)Cct>Tct p.P1063S KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 AAAAGAGTTTCCTTATGGCAT 0.433000 25 107 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19420509 19420509 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:19420509G>A ENST00000375267.2 - 95 13874 c.13871C>T c.(13870-13872)tCc>tTc p.S4624F UBR4_ENST00000543981.1_Missense_Mutation_p.S288F|UBR4_ENST00000375226.2_Missense_Mutation_p.S4600F|UBR4_ENST00000375254.3_Missense_Mutation_p.S4624F|UBR4_ENST00000375217.2_Missense_Mutation_p.S4617F|UBR4_ENST00000429347.2_Missense_Mutation_p.S147F|UBR4_ENST00000375224.1_Missense_Mutation_p.S331F|UBR4_ENST00000467272.2_5'UTR Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 4624 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CTCTCCAAAGGAAAGGTACGG 0.458000 5 18 0 0 1 0 0 BTG1 694 broad.mit.edu 37 12 92537927 92537927 + Missense_Mutation SNP A A C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:92537927A>C ENST00000256015.3 - 2 806 c.445T>G c.(445-447)Tgt>Ggt p.C149G NM_001731.2 NP_001722.1 P62324 BTG1_HUMAN B-cell translocation gene 1, anti-proliferative 149 cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|transcription cofactor activity haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2) 16 Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09) TCCTCCTTACAGCTGATTCGG 0.473000 T MYC BCLL OREG0022024 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 61 0 0 1 0 0 GLYAT 10249 broad.mit.edu 37 11 58477509 58477509 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:58477509G>A ENST00000344743.3 - 6 762 c.621C>T c.(619-621)tgC>tgT p.C207C GLYAT_ENST00000529732.1_Silent_p.C207C NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 207 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) CCAGGAGACAGCAGGTGGGAA 0.532000 30 83 0 0 1 0 0 KRTAP9-4 85280 broad.mit.edu 37 17 39406423 39406423 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:39406423C>T ENST00000334109.2 + 1 485 c.451C>T c.(451-453)Cct>Tct p.P151S NM_033191.2 NP_149461.2 Q9BYQ2 KRA94_HUMAN keratin associated protein 9-4 151 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF]. keratin filament breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CTGCTGTCAGCCTTTTTGCTG 0.527000 29 131 0 0 1 0 0 TMEM154 201799 broad.mit.edu 37 4 153574062 153574062 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:153574062C>T ENST00000304385.3 - 2 313 c.82G>A c.(82-84)Gaa>Aaa p.E28K TMEM154_ENST00000504064.1_Missense_Mutation_p.E28K NM_152680.2 NP_689893.1 Q6P9G4 TM154_HUMAN transmembrane protein 154 28 integral to membrane kidney(2)|large_intestine(1) 3 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) CCTGAGTTTTCTAATTCCTCA 0.313000 8 15 0 0 1 0 0 TRIM28 10155 broad.mit.edu 37 19 59059032 59059032 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:59059032G>A ENST00000253024.5 + 5 1080 c.791G>A c.(790-792)gGg>gAg p.G264E TRIM28_ENST00000341753.6_Missense_Mutation_p.G182E NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 264 Leucine zipper alpha helical coiled-coil region.|RBCC domain. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) AAGCGCCTTGGGGACAAACAT 0.572000 19 48 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76525671 76525671 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:76525671C>T ENST00000389840.5 - 22 3514 c.3390G>A c.(3388-3390)atG>atA p.M1130I DNAH17_ENST00000585328.1_Missense_Mutation_p.M1127I dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCTTGACTTTCATCAGGTGCC 0.562000 28 126 0 0 1 0 0 CPA6 57094 broad.mit.edu 37 8 68346316 68346316 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:68346316G>A ENST00000297770.4 - 9 1213 c.998C>T c.(997-999)cCc>cTc p.P333L CPA6_ENST00000297769.4_Intron NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 333 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) GTAAGAATAGGGATACAGTAA 0.408000 27 78 0 0 1 0 0 CEP170 9859 broad.mit.edu 37 1 243303396 243303396 + Missense_Mutation SNP A A C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:243303396A>C ENST00000366542.1 - 16 4124 c.4073T>G c.(4072-4074)gTt>gGt p.V1358G CEP170_ENST00000468254.1_5'UTR|RP11-261C10.5_ENST00000439562.1_RNA|CEP170_ENST00000481987.1_Missense_Mutation_p.V94G|CEP170_ENST00000490813.1_Missense_Mutation_p.V67G|CEP170_ENST00000366543.1_Missense_Mutation_p.V1234G|CEP170_ENST00000366544.1_Missense_Mutation_p.V1260G NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 1358 Targeting to centrosomes.|Targeting to microtubules. centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) TTCATCAAAAACACGATCAAC 0.378000 55 39 0 0 1 0 0 IRX2 153572 broad.mit.edu 37 5 2748963 2748963 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:2748963G>A ENST00000382611.6 - 3 1107 c.859C>T c.(859-861)Ccg>Tcg p.P287S IRX2_ENST00000302057.5_Missense_Mutation_p.P287S|IRX2_ENST00000502957.1_5'UTR NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 287 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) CCGGTAAGCGGCGACGAGGTC 0.751000 9 16 0 0 1 0 0 SLC25A38 54977 broad.mit.edu 37 3 39431045 39431045 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:39431045C>T ENST00000273158.4 + 2 506 c.129C>T c.(127-129)ctC>ctT p.L43L NM_017875.2 NP_060345.2 Q96DW6 S2538_HUMAN solute carrier family 25, member 38 43 erythrocyte differentiation|heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GCTCTACCCTCCTTTTCCAAC 0.507000 22 58 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180359867 180359867 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:180359867C>T ENST00000273654.4 - 19 2659 c.2040G>A c.(2038-2040)atG>atA p.M680I CCDC39_ENST00000442201.2_Missense_Mutation_p.M596I Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 596 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton p.M596I(1)|p.M680I(1) NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTCGCTCTTCCATTGCTGTGT 0.343000 11 40 0 0 1 0 0 SLC30A8 169026 broad.mit.edu 37 8 118159251 118159251 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:118159251G>A ENST00000456015.2 + 2 130 c.130G>A c.(130-132)Gag>Aag p.E44K SLC30A8_ENST00000519688.1_5'UTR|SLC30A8_ENST00000427715.2_5'UTR|SLC30A8_ENST00000521243.1_5'UTR NM_173851.2 NP_776250.2 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 44 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) GAGACCAGAGGAGCTGGAGTC 0.507000 24 67 0 0 1 0 0 FANCG 2189 broad.mit.edu 37 9 35079160 35079160 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:35079160G>A ENST00000378643.3 - 2 654 c.163C>T c.(163-165)Cat>Tat p.H55Y NM_004629.1 NP_004620.1 O15287 FANCG_HUMAN Fanconi anemia, complementation group G 55 cell cycle checkpoint|DNA repair|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1) 28 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TGCAGACTATGGAGGAGCCCT 0.567000 """Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks 6 13 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 367134 367134 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:367134C>T ENST00000342640.4 - 7 886 c.844G>A c.(844-846)Gaa>Aaa p.E282K THEG_ENST00000346878.2_Missense_Mutation_p.E258K NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 282 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCCACTCTTCCAAGAGGGTG 0.587000 29 116 0 0 1 0 0 CYP2S1 29785 broad.mit.edu 37 19 41712263 41712263 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:41712263C>T ENST00000310054.4 + 9 1601 c.1385C>T c.(1384-1386)tCc>tTc p.S462F CYP2S1_ENST00000542619.1_Missense_Mutation_p.S187F NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 462 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 CAAGCCTTCTCCCTGGAGAGC 0.607000 23 141 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 99640237 99640237 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:99640237G>A ENST00000547776.2 - 13 2161 c.2162C>T c.(2161-2163)tCa>tTa p.S721L ANKS1B_ENST00000329257.7_Missense_Mutation_p.S721L|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.S301L NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 721 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TTTAGGCAATGACCTTATTCT 0.458000 21 50 0 0 1 0 0 LAMP3 27074 broad.mit.edu 37 3 182853661 182853661 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:182853661C>T ENST00000265598.3 - 5 1216 c.961G>A c.(961-963)Gga>Aga p.G321R LAMP3_ENST00000466939.1_Missense_Mutation_p.G297R NM_014398.3 NP_055213.2 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 321 cell proliferation integral to membrane|lysosomal membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2) 28 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) TGTTTGATTCCTTGGTAAATT 0.522000 62 249 0 0 1 0 0 MAP6 4135 broad.mit.edu 37 11 75298246 75298246 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:75298246G>A ENST00000304771.3 - 4 3050 c.2300C>T c.(2299-2301)cCa>cTa p.P767L CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.P438L NM_033063.1 NP_149052.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 767 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) GTCCTTTGCTGGTACTGGCAC 0.522000 34 108 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34204861 34204861 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:34204861C>T ENST00000373381.4 - 15 2424 c.2248G>A c.(2248-2250)Ggc>Agc p.G750S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 710 Sushi 4. 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) ATGGAGCTGCCCAGCTGGAGG 0.577000 19 56 0 0 1 0 0 EDN3 1908 broad.mit.edu 37 20 57876598 57876598 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:57876598C>T ENST00000311585.7 + 2 556 c.186C>T c.(184-186)ggC>ggT p.G62G EDN3_ENST00000395654.3_Silent_p.G62G|EDN3_ENST00000337938.2_Silent_p.G62G|EDN3_ENST00000371028.2_Silent_p.G62G|EDN3_ENST00000371025.3_Silent_p.G62G NM_207032.1 NP_996915.1 P14138 EDN3_HUMAN endothelin 3 62 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) CTGGCCCTGGCGAGGGGACTG 0.716000 10 54 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105438935 105438935 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:105438935G>A ENST00000264122.4 - 10 1684 c.1363C>T c.(1363-1365)Cgt>Tgt p.R455C CBLB_ENST00000394027.3_Missense_Mutation_p.R477C|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.R455C|CBLB_ENST00000405772.1_Missense_Mutation_p.R455C NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 455 cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 GACTCCTCACGATCATCATCG 0.463000 Mis S AML 9 29 0 0 1 0 0 GMPS 8833 broad.mit.edu 37 3 155632257 155632257 + Silent SNP A A T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:155632257A>T ENST00000496455.1 + 8 1271 c.936A>T c.(934-936)atA>atT p.I312I GMPS_ENST00000295920.7_Silent_p.I213I NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 312 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCCTACCAATATCAGATGAAG 0.353000 T MLL AML 18 72 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43749343 43749343 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:43749343G>A ENST00000263801.3 - 12 1700 c.1448C>T c.(1447-1449)tCa>tTa p.S483L TP53BP1_ENST00000450115.2_Missense_Mutation_p.S488L|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S488L|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S488L NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 483 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TGTCAAAGATGAACTATGCAT 0.388000 Other conserved DNA damage response genes 7 27 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137207 40137207 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:40137207G>A ENST00000278198.2 - 2 2599 c.636C>T c.(634-636)atC>atT p.I212I LRRC4C_ENST00000527150.1_Silent_p.I212I|LRRC4C_ENST00000530763.1_Silent_p.I212I|LRRC4C_ENST00000528697.1_Silent_p.I212I Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 212 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TGAGGTTAGGGATTTCCCGAA 0.458000 21 51 0 0 1 0 0 MAP9 79884 broad.mit.edu 37 4 156294386 156294386 + Missense_Mutation SNP G G A rs149700830 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:156294386G>A ENST00000311277.4 - 4 646 c.383C>T c.(382-384)tCt>tTt p.S128F MAP9_ENST00000379248.2_Missense_Mutation_p.S56F|MAP9_ENST00000515654.1_Missense_Mutation_p.S128F|AC097467.2_ENST00000596165.1_RNA NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule-associated protein 9 128 cell division|mitosis cytoplasm|microtubule|spindle NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) TTCAGAGAAAGATTTTACAAC 0.338000 10 38 0 0 1 0 0 OR51I2 390064 broad.mit.edu 37 11 5475230 5475230 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:5475230C>T ENST00000341449.2 + 1 593 c.512C>T c.(511-513)tCc>tTc p.S171F HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S171Y(1) endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCTGCAGATCCAATGTTCTT 0.463000 15 72 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34042940 34042940 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:34042940G>A ENST00000373381.4 - 49 7708 c.7532C>T c.(7531-7533)cCc>cTc p.P2511L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2513 Sushi 14. 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) GTAGCCCTGGGGGTGCCGGGT 0.622000 24 83 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19483477 19483477 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:19483477G>A ENST00000506372.1 - 12 2220 c.1709C>T c.(1708-1710)tCc>tTc p.S570F CDH18_ENST00000274170.4_Silent_p.F605F|CDH18_ENST00000382275.1_Silent_p.F605F|CDH18_ENST00000507958.1_Silent_p.F605F|CDH18_ENST00000502796.1_Missense_Mutation_p.S569F Q13634 CAD18_HUMAN cadherin 18, type 2 0 Cadherin 5. 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) CCGAGGACAGGAAGGCTTCTG 0.522000 9 25 0 0 1 0 0 OR8D1 283159 broad.mit.edu 37 11 124180209 124180209 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:124180209C>T ENST00000357821.2 - 1 524 c.454G>A c.(454-456)Ggc>Agc p.G152S NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) GAGAGAAAGCCCAAGAAGAAG 0.468000 11 25 0 0 1 0 0 NDUFB5 4711 broad.mit.edu 37 3 179333833 179333833 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:179333833C>T ENST00000259037.3 + 3 390 c.276C>T c.(274-276)ttC>ttT p.F92F NDUFB5_ENST00000473500.1_Intron|NDUFB5_ENST00000472629.1_Silent_p.F80F|NDUFB5_ENST00000493866.1_Intron NM_002492.3 NP_002483.1 O43674 NDUB5_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa 92 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(1)|lung(6)|skin(1) 8 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) NADH(DB00157) TGAATGTATTCATTGGTAAGT 0.323000 15 30 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33927862 33927862 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:33927862C>T ENST00000389232.4 + 26 3293 c.3223C>T c.(3223-3225)Cgg>Tgg p.R1075W RYR3_ENST00000415757.3_Missense_Mutation_p.R1075W NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1075 4 X approximate repeats.|B30.2/SPRY 2. 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) CCGATTTTTCCGGGTAGAGCG 0.512000 8 26 0 0 1 0 0 CTSL 1514 broad.mit.edu 37 9 90343221 90343221 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:90343221G>A ENST00000343150.5 + 4 1196 c.306G>A c.(304-306)aaG>aaA p.K102K CTSL_ENST00000495822.1_Intron|CTSL_ENST00000342020.5_Silent_p.K102K|CTSL_ENST00000340342.6_Silent_p.K102K cathepsin L AGCCCAGGAAGGGGAAAGTGT 0.453000 13 60 0 0 1 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30118271 30118271 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:30118271C>T ENST00000449726.1 + 14 1778 c.1428C>T c.(1426-1428)gaC>gaT p.D476D PLEKHA8_ENST00000396259.1_Intron|PLEKHA8_ENST00000396257.2_Intron|PLEKHA8_ENST00000258679.7_Intron NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 476 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 AGGAAGGTGACCACCAGAAAG 0.478000 22 59 0 0 1 0 0 ZNF812 729648 broad.mit.edu 37 19 9801820 9801820 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:9801820C>T ENST00000457674.2 - 5 877 c.359G>A c.(358-360)gGa>gAa p.G120E ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 120 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GATGTCTTTTCCATAACAATT 0.413000 10 54 0 0 1 0 0 SLC7A7 9056 broad.mit.edu 37 14 23282240 23282240 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:23282240G>A ENST00000397532.3 - 2 893 c.368C>T c.(367-369)tCc>tTc p.S123F SLC7A7_ENST00000285850.7_Missense_Mutation_p.S123F|SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000555702.1_Missense_Mutation_p.S123F|SLC7A7_ENST00000397528.4_Missense_Mutation_p.S123F|SLC7A7_ENST00000397529.2_Missense_Mutation_p.S123F Q9UM01 YLAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 123 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.00741) GATGAGCAGGGAGGTCCAGAG 0.537000 37 106 0 0 1 0 0 TYK2 7297 broad.mit.edu 37 19 10478868 10478868 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:10478868G>A ENST00000525621.1 - 5 809 c.328C>T c.(328-330)Cgg>Tgg p.R110W TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Missense_Mutation_p.R110W|TYK2_ENST00000264818.6_Missense_Mutation_p.R110W NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 110 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) TGCCAGTTCCGGAAATAAAAC 0.587000 15 42 0 0 1 0 0 TCP10L2 401285 broad.mit.edu 37 6 167591975 167591975 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:167591975C>T ENST00000366832.2 + 5 733 c.602C>T c.(601-603)cCc>cTc p.P201L NM_001145121.1 NP_001138593.1 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 201 endometrium(1)|kidney(2)|lung(3) 6 AGTCCAGCACCCACTGGAAGG 0.517000 7 75 0 0 1 0 0 CASP4 837 broad.mit.edu 37 11 104820330 104820330 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:104820330G>A ENST00000444739.2 - 5 1631 c.721C>T c.(721-723)Cgc>Tgc p.R241C CASP4_ENST00000393150.3_Missense_Mutation_p.R185C NM_001225.3 NP_001216.1 P49662 CASP4_HUMAN caspase 4, apoptosis-related cysteine peptidase 241 apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2) 23 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) AGGCAGTTGCGGTTGTTGAAT 0.478000 21 60 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56468778 56468778 + Silent SNP T T A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:56468778T>A ENST00000288221.6 - 2 513 c.258A>T c.(256-258)acA>acT p.T86T NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 86 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CAGCTCGATTTGTAGCCCTTC 0.502000 36 117 0 0 1 0 0 SYT3 84258 broad.mit.edu 37 19 51128505 51128505 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:51128505C>T ENST00000338916.4 - 7 2254 c.1621G>A c.(1621-1623)Gct>Act p.A541T SYT3_ENST00000600079.1_Missense_Mutation_p.A541T|SYT3_ENST00000593901.1_Missense_Mutation_p.A541T|SYT3_ENST00000544769.1_Missense_Mutation_p.A541T NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 541 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GGGTCGGCAGCGTCGGGGCCC 0.692000 4 7 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117609888 117609888 + Missense_Mutation SNP C C G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:117609888C>G ENST00000368508.3 - 43 7009 c.6811G>C c.(6811-6813)Ggg>Cgg p.G2271R ROS1_ENST00000368507.3_Missense_Mutation_p.G2265R NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 2271 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TAGTTTAACCCTTCTCGGTTC 0.408000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 16 33 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138711 126138711 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:126138711G>A ENST00000299308.3 + 9 2700 c.2692G>A c.(2692-2694)Gag>Aag p.E898K TMEM132B_ENST00000535886.1_Missense_Mutation_p.E410K NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 898 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AACGGACTTGGAGATTGGCAT 0.512000 25 55 0 0 1 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389858 150389858 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:150389858G>A ENST00000223293.5 + 3 578 c.484G>A c.(484-486)Gac>Aac p.D162N NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 162 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTACATGCACGACTCAGATAA 0.502000 50 43 0 0 1 0 0 PLA2G6 8398 broad.mit.edu 37 22 38509565 38509565 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:38509565G>A ENST00000332509.3 - 15 2314 c.2131C>T c.(2131-2133)Ccc>Tcc p.P711S PLA2G6_ENST00000335539.3_Missense_Mutation_p.P657S|PLA2G6_ENST00000402064.1_Missense_Mutation_p.P657S NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 711 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) GGGTTGCTGGGACGGAAGACA 0.602000 24 146 0 0 1 0 0 SERPINB7 8710 broad.mit.edu 37 18 61460452 61460452 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr18:61460452G>A ENST00000398019.2 + 4 602 c.277G>A c.(277-279)Gat>Aat p.D93N SERPINB7_ENST00000336429.2_Missense_Mutation_p.D93N|SERPINB7_ENST00000540675.1_Missense_Mutation_p.D76N|SERPINB7_ENST00000546027.1_Missense_Mutation_p.D93N NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 93 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) ATCCCACAAGGATTATGATCT 0.348000 5 41 0 0 1 0 0 SLC25A23 79085 broad.mit.edu 37 19 6454085 6454085 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:6454085G>A ENST00000301454.4 - 7 916 c.810C>T c.(808-810)atC>atT p.I270I SLC25A23_ENST00000334510.5_Silent_p.I270I|SLC25A23_ENST00000414491.2_Silent_p.I87I NM_024103.2 NP_077008.2 Q9BV35 SCMC3_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 270 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1) 17 GCTGCCCCAGGATGGCCCTCT 0.582000 8 23 0 0 1 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155931901 155931901 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:155931901G>A ENST00000368316.1 - 14 1600 c.1130C>T c.(1129-1131)tCc>tTc p.S377F ARHGEF2_ENST00000361247.4_Missense_Mutation_p.S405F|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.S406F|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.S377F|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.S404F Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 405 DH. actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CTCACCGTGGGAATGCTGCAG 0.642000 24 126 0 0 1 0 0 C12orf36 283422 broad.mit.edu 37 12 13526231 13526231 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:13526231C>T ENST00000318426.2 - 3 541 c.324G>A c.(322-324)aaG>aaA p.K108K C12orf36_ENST00000527705.2_Silent_p.K108K chromosome 12 open reading frame 36 lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) TCTGTCCACTCTTCAGCCTCT 0.488000 32 125 0 0 1 0 0 OR5K3 403277 broad.mit.edu 37 3 98109721 98109721 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:98109721C>T ENST00000383695.1 + 1 212 c.212C>T c.(211-213)tCc>tTc p.S71F RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005516.1 NP_001005516.1 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, member 3 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 CTGATGGATTCCTGCTGTTCC 0.393000 78 220 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19351433 19351433 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:19351433G>A ENST00000252575.5 + 12 3474 c.3431G>A c.(3430-3432)tGg>tAg p.W1144* NCAN_ENST00000538881.1_Nonsense_Mutation_p.W595* NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 1144 C-type lectin. 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) GAAAACACGTGGATCGGCCTG 0.642000 24 69 0 0 1 0 0 TRAV34 28648 broad.mit.edu 37 14 22675459 22675459 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:22675459G>A ENST00000390461.2 + 0 42 TACTCCTAGGGATATTGGGGT 0.453000 14 45 0 0 1 0 0 KRT84 3890 broad.mit.edu 37 12 52771866 52771866 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:52771866G>A ENST00000257951.3 - 9 1821 c.1755C>T c.(1753-1755)tcC>tcT p.S585S NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 585 Tail. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) AGCGGACGCTGGAGCTGCGGC 0.687000 6 16 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 72057460 72057460 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:72057460C>T ENST00000355327.3 + 16 2825 c.2691C>T c.(2689-2691)ttC>ttT p.F897F THSD4_ENST00000261862.6_Silent_p.F897F|THSD4_ENST00000357769.4_Silent_p.F537F|THSD4_ENST00000567838.1_3'UTR Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 897 TSP type-1 5. proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AATGTTCTTTCCTGGAGAAAC 0.522000 14 51 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32041498 32041498 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:32041498C>T ENST00000375244.3 - 12 4808 c.4607G>A c.(4606-4608)aGa>aAa p.R1536K TNXB_ENST00000375247.2_Missense_Mutation_p.R1536K P22105 TENX_HUMAN tenascin XB 1623 Fibronectin type-III 7. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CTTATATTTTCTCTCAGGCTC 0.562000 5 15 0 0 1 0 0 KAZALD1 81621 broad.mit.edu 37 10 102824068 102824068 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:102824068G>A ENST00000370200.5 + 3 888 c.562G>A c.(562-564)Gat>Aat p.D188N NM_030929.4 NP_112191.2 Q96I82 KAZD1_HUMAN Kazal-type serine peptidase inhibitor domain 1 188 Ig-like C2-type. cell differentiation|multicellular organismal development|ossification|regulation of cell growth insulin-like growth factor binding endometrium(1)|ovary(1)|prostate(2) 4 Epithelial(162;6.21e-09)|all cancers(201;3.14e-07) GACAGGGCAGGATGTGATCTT 0.567000 11 27 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197183810 197183810 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:197183810C>T ENST00000260983.2 - 9 1986 c.1804G>A c.(1804-1806)Gat>Aat p.D602N HECW2_ENST00000409111.1_Missense_Mutation_p.D246N NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 602 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GAGCCCTGATCGAGAGACTCG 0.587000 7 25 0 0 1 0 0 OR8K5 219453 broad.mit.edu 37 11 55927718 55927718 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:55927718G>A ENST00000313447.1 - 1 75 c.76C>T c.(76-78)Ccc>Tcc p.P26S NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) CCAAAAAGGGGAATCTGCAGC 0.443000 20 75 0 0 1 0 0 MVP 9961 broad.mit.edu 37 16 29853296 29853296 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:29853296C>T ENST00000357402.5 + 10 1635 c.1497C>T c.(1495-1497)tcC>tcT p.S499S MVP_ENST00000395353.1_Silent_p.S499S|MVP_ENST00000452209.2_3'UTR NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 499 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 CAGTGTTGTCCCTCTCAGCTG 0.647000 9 33 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124358571 124358571 + Missense_Mutation SNP C C A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:124358571C>A ENST00000338354.3 + 26 3344 c.3238C>A c.(3238-3240)Cac>Aac p.H1080N DMBT1_ENST00000344338.3_Missense_Mutation_p.H1070N|DMBT1_ENST00000368956.2_Missense_Mutation_p.H581N|DMBT1_ENST00000330163.4_Missense_Mutation_p.H581N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.H1070N|DMBT1_ENST00000368909.3_Missense_Mutation_p.H1080N Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1080 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CTGGCTCTCCCACAACTGTGG 0.567000 25 104 7.92952e-12 7.99136e-12 1 1 0 POLE 5426 broad.mit.edu 37 12 133233743 133233743 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:133233743G>A ENST00000320574.5 - 29 3604 c.3561C>T c.(3559-3561)ttC>ttT p.F1187F POLE_ENST00000535270.1_Silent_p.F1160F NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1187 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) CCTCCAGGGTGAAGAGCTCAC 0.567000 DNA polymerases (catalytic subunits) 16 85 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65249232 65249232 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:65249232C>T ENST00000389722.3 - 19 4095 c.4042G>A c.(4042-4044)Gcc>Acc p.A1348T SPTB_ENST00000542895.1_Missense_Mutation_p.A1348T|SPTB_ENST00000556626.1_Missense_Mutation_p.A1348T|SPTB_ENST00000389720.3_Missense_Mutation_p.A1348T|SPTB_ENST00000389721.5_Missense_Mutation_p.A1348T NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1348 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) GACACCAGGGCTGTAAACTGG 0.607000 28 175 0 0 1 0 0 HOMER1 9456 broad.mit.edu 37 5 78742950 78742950 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:78742950C>T ENST00000334082.6 - 4 1755 c.313G>A c.(313-315)Gaa>Aaa p.E105K HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.E105K NM_004272.3 NP_004263.1 Q86YM7 HOME1_HUMAN homer homolog 1 (Drosophila) 105 WH1. activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1) 14 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) TCTTTAAATTCCTGAAACTTT 0.338000 7 32 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996029 140996029 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chrX:140996029C>T ENST00000285879.4 + 4 3125 c.2839C>T c.(2839-2841)Cct>Tct p.P947S MAGEC1_ENST00000406005.2_Missense_Mutation_p.P14S NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 947 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GGGCTACTTTCCTGTGATCTT 0.463000 HNSCC(15;0.026) 57 67 0 0 1 0 0 SERPINA9 327657 broad.mit.edu 37 14 94933529 94933529 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:94933529G>A ENST00000337425.5 - 3 947 c.873C>T c.(871-873)ctC>ctT p.L291L SERPINA9_ENST00000546329.1_Silent_p.L255L|SERPINA9_ENST00000298845.7_Silent_p.L191L|SERPINA9_ENST00000424550.2_Silent_p.L142L|SERPINA9_ENST00000380365.3_Silent_p.L273L|SERPINA9_ENST00000448305.2_Silent_p.L193L NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 273 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) CCTTGCTAGGGAGGACAAAGA 0.522000 18 52 0 0 1 0 0 VOPP1 81552 broad.mit.edu 37 7 55560102 55560102 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:55560102C>T ENST00000285279.5 - 4 401 c.201G>A c.(199-201)ctG>ctA p.L67L VOPP1_ENST00000427700.1_Silent_p.L65L|VOPP1_ENST00000453256.1_5'UTR|VOPP1_ENST00000428648.1_5'UTR|VOPP1_ENST00000433959.1_Silent_p.L58L|VOPP1_ENST00000545390.1_Silent_p.L64L|VOPP1_ENST00000418904.1_Silent_p.L50L|VOPP1_ENST00000428097.1_5'UTR|VOPP1_ENST00000454227.1_Silent_p.L4L NM_030796.3 NP_110423.3 Q96AW1 VOPP1_HUMAN vesicular, overexpressed in cancer, prosurvival protein 1 67 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic vesicle membrane|endosome|integral to organelle membrane signal transducer activity endometrium(1)|lung(4) 5 CGCCCATCATCAGAAGGAACC 0.622000 8 15 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161113261 161113261 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:161113261G>A ENST00000523217.1 + 2 306 c.64G>A c.(64-66)Gaa>Aaa p.E22K GABRA6_ENST00000274545.5_Missense_Mutation_p.E22K|GABRA6_ENST00000522269.1_3'UTR NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 22 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGGGAAACTCGAAGTTGAAGG 0.478000 TCGA Ovarian(5;0.080) 20 46 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24578687 24578687 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr16:24578687C>T ENST00000319715.4 + 15 2245 c.1813C>T c.(1813-1815)Cct>Tct p.P605S RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.P605S NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 605 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) TCCAGGGTTTCCTCCAGCTCC 0.537000 70 303 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38627279 38627279 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:38627279C>T ENST00000413689.1 - 16 2883 c.2690G>A c.(2689-2691)gGa>gAa p.G897E SCN5A_ENST00000455624.2_Missense_Mutation_p.G897E|SCN5A_ENST00000450102.2_Missense_Mutation_p.G897E|SCN5A_ENST00000449557.2_Missense_Mutation_p.G897E|SCN5A_ENST00000443581.1_Missense_Mutation_p.G897E|SCN5A_ENST00000425664.1_Missense_Mutation_p.G897E|SCN5A_ENST00000423572.2_Missense_Mutation_p.G897E|SCN5A_ENST00000414099.2_Missense_Mutation_p.G897E|SCN5A_ENST00000333535.4_Missense_Mutation_p.G897E|SCN5A_ENST00000451551.2_Missense_Mutation_p.G897E NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 897 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GATCCACTCTCCACAGAGGAT 0.542000 30 73 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36597596 36597596 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:36597596C>T ENST00000299440.5 + 2 2854 c.2742C>T c.(2740-2742)ttC>ttT p.F914F NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 914 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) AGTACAGTTTCAATTCACAGC 0.453000 Familial Hemophagocytic Lymphohistiocytosis 14 48 0 0 1 0 0 FBXO28 23219 broad.mit.edu 37 1 224318205 224318205 + Missense_Mutation SNP G G T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:224318205G>T ENST00000366862.5 + 2 342 c.299G>T c.(298-300)aGa>aTa p.R100I FBXO28_ENST00000424254.2_Missense_Mutation_p.R100I NM_015176.3 NP_055991.1 Q9NVF7 FBX28_HUMAN F-box protein 28 100 F-box. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1) 10 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) GTCTGCCAGAGAATGTTGAAT 0.373000 56 75 2.73361e-28 2.76322e-28 1 1 0 CPA1 1357 broad.mit.edu 37 7 130025044 130025044 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:130025044C>T ENST00000011292.3 + 8 995 c.845C>T c.(844-846)tCc>tTc p.S282F CPA1_ENST00000484324.1_Missense_Mutation_p.S194F NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 282 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) TTTGCCAATTCCGAAGTGGAG 0.562000 23 98 0 0 1 0 0 OVCH2 341277 broad.mit.edu 37 11 7725274 7725274 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:7725274C>T ENST00000454689.1 - 0 260 OVCH2_ENST00000534193.1_RNA NM_198185.3 NP_937828.3 ovochymase 2 (gene/pseudogene) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) CCGCCGTGATCACCCACTGTG 0.453000 4 18 0 0 1 0 0 B4GALNT4 338707 broad.mit.edu 37 11 376689 376689 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:376689C>T ENST00000329962.6 + 14 1566 c.1566C>T c.(1564-1566)ccC>ccT p.P522P NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 522 Pro-rich. Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGCAGCCGCCCCCAAAGGTGT 0.776000 3 3 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10307662 10307662 + Silent SNP T T C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:10307662T>C ENST00000403437.2 - 22 2767 c.2673A>G c.(2671-2673)caA>caG p.Q891Q CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 891 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle 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 GAACCTGGAGTTGCAGGTCAT 0.383000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 15 35 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530097 140530097 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:140530097G>A ENST00000231136.1 + 1 259 c.259G>A c.(259-261)Gaa>Aaa p.E87K PCDHB6_ENST00000543635.1_5'UTR NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 87 Cadherin 1. 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) ACTGCTAAATGAAAAACTGGA 0.517000 26 90 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10430069 10430069 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:10430069C>T ENST00000397077.1 - 8 1374 c.799G>A c.(799-801)Ggc>Agc p.G267S ATP2B2_ENST00000343816.4_Missense_Mutation_p.G267S|ATP2B2_ENST00000352432.4_Missense_Mutation_p.G267S|ATP2B2_ENST00000360273.2_Missense_Mutation_p.G267S|ATP2B2_ENST00000383800.4_Missense_Mutation_p.G267S Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 267 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CGTCCTGAGCCCTCCATCACG 0.522000 32 95 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46795729 46795729 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:46795729C>T ENST00000262738.3 - 10 5296 c.5297G>A c.(5296-5298)gGg>gAg p.G1766E NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1766 Laminin G-like 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CACCCGCAACCCGGACAGCAT 0.582000 27 57 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153896276 153896276 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:153896276C>T ENST00000511601.1 + 12 2021 c.1833C>T c.(1831-1833)gcC>gcT p.A611A FHDC1_ENST00000260008.3_Silent_p.A611A Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 611 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) AGGAGGAGGCCCCCAACCCAC 0.682000 41 185 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151962239 151962239 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:151962239C>T ENST00000355193.2 - 8 1286 c.1068G>A c.(1066-1068)caG>caA p.Q356Q KMT2C_ENST00000262189.6_Silent_p.Q356Q lysine (K)-specific methyltransferase 2C TACAAAAGAACTGATCTAAGA 0.418000 8 331 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 100200287 100200287 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:100200287C>T ENST00000547776.2 - 4 563 c.564G>A c.(562-564)atG>atA p.M188I ANKS1B_ENST00000329257.7_Missense_Mutation_p.M188I|ANKS1B_ENST00000547010.1_Intron NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 188 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TGTTGCAGCTCATTAAGTTAG 0.512000 8 37 0 0 1 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47583536 47583536 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:47583536C>T ENST00000334194.3 + 12 1451 c.1448C>T c.(1447-1449)cCc>cTc p.P483L CYP4Z1_ENST00000471598.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 483 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 TCAAGGCCTCCCCAGCCTGTT 0.438000 15 32 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6655519 6655519 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:6655519C>T ENST00000299441.3 - 3 2227 c.1816G>A c.(1816-1818)Gat>Aat p.D606N RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 606 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGCCACTATCCGCGTCTGTG 0.572000 17 57 0 0 1 0 0 IGHA2 3494 broad.mit.edu 37 14 106054550 106054550 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:106054550C>T ENST00000390539.2 - 0 182 TGTACAGGTCCCCGGAGGCAT 0.622000 23 59 0 0 1 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39914447 39914447 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:39914447C>T ENST00000425673.1 + 17 2912 c.2587C>T c.(2587-2589)Ccc>Tcc p.P863S PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P833S|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P892S Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 892 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) GGAGTCTGTCCCCCTGGGTCC 0.567000 19 68 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151107868 151107868 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:151107868C>T ENST00000474524.1 + 36 5486 c.5448C>T c.(5446-5448)ctC>ctT p.L1816L MED12L_ENST00000273432.4_Silent_p.L1676L NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1816 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) GTTACAACCTCGTGGGCCAGC 0.498000 41 187 0 0 1 0 0 OR8D4 338662 broad.mit.edu 37 11 123777236 123777236 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:123777236G>A ENST00000321355.2 + 1 128 c.98G>A c.(97-99)gGa>gAa p.G33E NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) CTCTTCTTAGGAATTTACACA 0.423000 20 60 0 0 1 0 0 BTBD16 118663 broad.mit.edu 37 10 124036432 124036432 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr10:124036432G>A ENST00000368994.2 + 3 399 c.148G>A c.(148-150)Gaa>Aaa p.E50K BTBD16_ENST00000260723.4_Missense_Mutation_p.E49K Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 49 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) AGACTTTGAGGAAGCTTTGAG 0.557000 14 45 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 624595 624595 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr11:624595C>T ENST00000358353.3 - 3 545 c.223G>A c.(223-225)Gga>Aga p.G75R CDHR5_ENST00000529337.1_5'UTR|CDHR5_ENST00000397542.2_Missense_Mutation_p.G75R|CDHR5_ENST00000349570.7_Missense_Mutation_p.G75R Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 75 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 AGCTGGTTTCCCTGGATCCGA 0.627000 16 70 0 0 1 0 0 GDF5 8200 broad.mit.edu 37 20 34022144 34022144 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:34022144C>T ENST00000374372.1 - 4 1572 c.1069G>A c.(1069-1071)Gag>Aag p.E357K GDF5_ENST00000374369.3_Missense_Mutation_p.E357K|GDF5OS_ENST00000374375.1_Missense_Mutation_p.S63L P43026 GDF5_HUMAN growth differentiation factor 5 357 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GCCTTAATCTCATTAAAGAAC 0.632000 68 93 0 0 1 0 0 ATAD3B 83858 broad.mit.edu 37 1 1417621 1417621 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:1417621C>T ENST00000308647.7 + 6 734 c.618C>T c.(616-618)atC>atT p.I206I ATAD3B_ENST00000378736.2_3'UTR|ATAD3B_ENST00000378741.3_Silent_p.I38I NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 206 ATP binding|nucleoside-triphosphatase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ATGCAGACATCATCCGCGAGC 0.672000 10 40 0 0 1 0 0 ATOH8 84913 broad.mit.edu 37 2 85981884 85981884 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:85981884C>T ENST00000306279.3 + 1 868 c.572C>T c.(571-573)tCc>tTc p.S191F ATOH8_ENST00000463422.1_3'UTR NM_032827.6 NP_116216.2 Q96SQ7 ATOH8_HUMAN atonal homolog 8 (Drosophila) 191 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 5 GGGGAAAGTTCCTACTCGTCA 0.682000 18 55 0 0 1 0 0 LOC101926911 101926911 broad.mit.edu 37 15 91578389 91578389 + RNA SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:91578389C>T ENST00000557804.1 + 0 707 CATCTTCCTTCCACGTCCCTC 0.577000 5 15 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25976476 25976476 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:25976476G>A ENST00000435504.4 - 11 1362 c.1069C>T c.(1069-1071)Cga>Tga p.R357* ASXL2_ENST00000336112.4_Nonsense_Mutation_p.R329*|ASXL2_ENST00000272341.4_Nonsense_Mutation_p.R97*|ASXL2_ENST00000404843.1_Nonsense_Mutation_p.R97* Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding p.R97*(1)|p.R357*(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCTCTTGTCGAATTCTCACC 0.358000 29 94 0 0 1 0 0 ASPH 444 broad.mit.edu 37 8 62550915 62550915 + Nonsense_Mutation SNP A A T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:62550915A>T ENST00000541428.1 - 11 871 c.711T>A c.(709-711)taT>taA p.Y237* ASPH_ENST00000518068.1_Nonsense_Mutation_p.Y223*|ASPH_ENST00000356457.5_Nonsense_Mutation_p.Y266*|ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000445642.3_Nonsense_Mutation_p.Y252*|ASPH_ENST00000522919.1_Nonsense_Mutation_p.Y79*|ASPH_ENST00000517903.1_Nonsense_Mutation_p.Y251*|ASPH_ENST00000517847.2_Nonsense_Mutation_p.Y252*|ASPH_ENST00000379454.4_Nonsense_Mutation_p.Y266*|ASPH_ENST00000522835.1_Nonsense_Mutation_p.Y209* NM_001164750.1 NP_001158222.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 266 Glu-rich. muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CTAGAGGTTCATATACTGCTA 0.338000 15 35 0 0 1 0 0 MROH1 727957 broad.mit.edu 37 8 145235383 145235383 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:145235383G>A ENST00000528919.1 + 6 640 c.519G>A c.(517-519)ctG>ctA p.L173L MROH1_ENST00000326134.5_Silent_p.L173L|MROH1_ENST00000534366.1_Silent_p.L173L|MROH1_ENST00000423230.2_Silent_p.L173L|MROH1_ENST00000398656.4_Silent_p.L173L NM_032450.2 NP_115826.2 maestro heat-like repeat family member 1 TGCCCGTGCTGGGCGTGGCCA 0.657000 31 66 0 0 1 0 0 MTR 4548 broad.mit.edu 37 1 237052584 237052584 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:237052584G>A ENST00000366577.5 + 28 3349 c.2955G>A c.(2953-2955)cgG>cgA p.R985R MTR_ENST00000535889.1_Silent_p.R934R NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 985 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) GGCAGCTCCGGGGCAAGTACC 0.483000 15 125 0 0 1 0 0 TWF1 5756 broad.mit.edu 37 12 44193227 44193227 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:44193227C>T ENST00000395510.2 - 5 586 c.457G>A c.(457-459)Gaa>Aaa p.E153K TWF1_ENST00000325127.4_Missense_Mutation_p.E187K|TWF1_ENST00000548315.1_Missense_Mutation_p.E153K|TWF1_ENST00000552521.1_Missense_Mutation_p.E55K NM_001242397.1|NM_002822.4 NP_001229326.1|NP_002813.3 Q12792 TWF1_HUMAN twinfilin actin-binding protein 1 153 actin cytoskeleton|cytoplasm actin binding|protein tyrosine kinase activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1) 14 all_cancers(12;0.00125) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.0474) TGTCGTAGTTCTTCCTCAGCT 0.338000 3 11 0 0 1 0 0 RTP3 83597 broad.mit.edu 37 3 46539575 46539575 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:46539575G>A ENST00000296142.3 + 1 595 c.23G>A c.(22-24)tGg>tAg p.W8* NM_031440.1 NP_113628.1 Q9BQQ7 RTP3_HUMAN receptor (chemosensory) transporter protein 3 8 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) ACAGAAGTGTGGAAGCAAATG 0.587000 17 74 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22927886 22927886 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:22927886C>T ENST00000166244.3 + 16 2895 c.2823C>T c.(2821-2823)tcC>tcT p.S941S NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 941 SAM. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GGCTGGACTCCATCCGCATGG 0.687000 22 86 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141946119 141946119 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:141946119C>T ENST00000389484.3 - 7 1855 c.884G>A c.(883-885)cGa>cAa p.R295Q NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 295 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) ATAGAGATTTCGAGTGAGCCA 0.408000 TSP Lung(27;0.18) 10 22 0 0 1 0 0 CYP4V2 285440 broad.mit.edu 37 4 187122362 187122362 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:187122362G>A ENST00000378802.4 + 7 1157 c.853G>A c.(853-855)Gat>Aat p.D285N NM_207352.3 NP_997235.3 Q6ZWL3 CP4V2_HUMAN cytochrome P450, family 4, subfamily V, polypeptide 2 285 response to stimulus|visual perception endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2) 20 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17) CTGTAGAGGTGATGGCAGGGG 0.463000 12 41 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56026099 56026099 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:56026099G>A ENST00000288221.6 - 11 2496 c.2241C>T c.(2239-2241)atC>atT p.I747I NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 747 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CCAGTTCTGCGATCTTCTTGT 0.498000 21 129 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 107823014 107823014 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr13:107823014G>A ENST00000375915.2 - 3 1346 c.1208C>T c.(1207-1209)tCg>tTg p.S403L NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 403 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CACTGTGAGCGATGTCCTGTG 0.478000 7 30 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43927066 43927066 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr20:43927066C>T ENST00000537548.1 - 8 1414 c.1170G>A c.(1168-1170)tcG>tcA p.S390S MATN4_ENST00000372754.1_Silent_p.S431S|MATN4_ENST00000353917.5_Silent_p.S308S|MATN4_ENST00000372753.1_Silent_p.S241S|MATN4_ENST00000372751.4_Silent_p.S241S|MATN4_ENST00000342716.4_Silent_p.S390S|MATN4_ENST00000360607.5_Silent_p.S349S|MATN4_ENST00000372756.1_Silent_p.S390S O95460 MATN4_HUMAN matrilin 4 431 VWFA 2. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) GCACGCGGCTCGAGAACTGCA 0.632000 18 81 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194062946 194062946 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:194062946C>T ENST00000323830.3 - 2 575 c.486G>A c.(484-486)agG>agA p.R162R CPN2_ENST00000429275.1_Silent_p.R162R NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 162 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GGAAGAGCCTCCTGGGCAGGG 0.642000 21 50 0 0 1 0 0 SLC26A6 65010 broad.mit.edu 37 3 48667522 48667522 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr3:48667522G>A ENST00000358747.6 - 11 1582 c.1332C>T c.(1330-1332)tcC>tcT p.S444S SLC26A6_ENST00000383733.3_Silent_p.S465S|SLC26A6_ENST00000455886.2_Silent_p.S429S|SLC26A6_ENST00000420764.2_Silent_p.S465S|SLC26A6_ENST00000337000.8_Silent_p.S358S|SLC26A6_ENST00000395550.2_Silent_p.S465S NM_001040454.1 NP_001035544.1 solute carrier family 26 (anion exchanger), member 6 SLC26A6/PRKAR2A(2) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) CCTTCCAGAGGGAGCGCATGT 0.667000 16 57 0 0 1 0 0 SOCS7 30837 broad.mit.edu 37 17 36551576 36551576 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:36551576C>T ENST00000577233.1 + 8 1504 c.1504C>T c.(1504-1506)Cct>Tct p.P502S SOCS7_ENST00000331159.5_Missense_Mutation_p.P468S NM_014598.2 NP_055413.1 O14512 SOCS7_HUMAN suppressor of cytokine signaling 7 502 SH2. intracellular signal transduction|negative regulation of signal transduction|regulation of growth cytoplasm|nucleus|plasma membrane protein binding|SH3 domain binding central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5) 9 Breast(7;3.47e-17) GCCACCAACTCCTGTCCAGCT 0.468000 13 38 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168096932 168096932 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:168096932C>T ENST00000519560.1 - 35 4611 c.4192G>A c.(4192-4194)Gga>Aga p.G1398R SLIT3_ENST00000404867.3_Missense_Mutation_p.G1398R|SLIT3_ENST00000332966.8_Missense_Mutation_p.G1405R NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1398 EGF-like 8. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAGTCCCCTCCATAGCCCTCG 0.542000 8 50 0 0 1 0 0 SLC39A4 55630 broad.mit.edu 37 8 145641270 145641270 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:145641270G>A ENST00000276833.5 - 1 626 c.323C>T c.(322-324)cCc>cTc p.P108L SLC39A4_ENST00000301305.3_Missense_Mutation_p.P133L NM_017767.2 NP_060237.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 133 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CAGGGCCTTGGGGCTCTCGAG 0.701000 8 18 0 0 1 0 0 CLEC10A 10462 broad.mit.edu 37 17 6979026 6979026 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr17:6979026G>A ENST00000576617.1 - 7 887 c.618C>T c.(616-618)ttC>ttT p.F206F CLEC10A_ENST00000254868.4_Intron|CLEC10A_ENST00000416562.2_Intron|CLEC10A_ENST00000571664.1_Intron Q8IUN9 CLC10_HUMAN C-type lectin domain family 10, member A 0 C-type lectin. endocytosis|innate immune response integral to membrane|plasma membrane sugar binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 CATGTCTTAGGAACTGAGTAC 0.537000 12 47 0 0 1 0 0 CDCA4 55038 broad.mit.edu 37 14 105477976 105477976 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:105477976G>A ENST00000336219.3 - 2 446 c.291C>T c.(289-291)tcC>tcT p.S97S CDCA4_ENST00000392590.3_Silent_p.S97S NM_017955.3 NP_060425.2 Q9BXL8 CDCA4_HUMAN cell division cycle associated 4 97 nucleus endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.142) GGATCTCCGTGGAGACCAAGC 0.667000 13 47 0 0 1 0 0 CERKL 375298 broad.mit.edu 37 2 182414409 182414409 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:182414409G>A ENST00000410087.3 - 6 947 c.847C>T c.(847-849)Ctt>Ttt p.L283F CERKL_ENST00000374969.2_Missense_Mutation_p.L170F|CERKL_ENST00000374970.2_Missense_Mutation_p.L214F|CERKL_ENST00000339098.5_Missense_Mutation_p.L309F|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.L265F NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 309 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) ACTCCATGAAGAGAATGTGCC 0.323000 12 54 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85457714 85457714 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr6:85457714G>A ENST00000369663.5 - 5 1200 c.863C>T c.(862-864)cCa>cTa p.P288L TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Missense_Mutation_p.P130L NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 288 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CTCCCCGGATGGAACAGGCTT 0.448000 14 23 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77885269 77885269 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:77885269G>A ENST00000354212.4 - 10 2291 c.2038C>T c.(2038-2040)Cat>Tat p.H680Y MAGI2_ENST00000522391.1_Missense_Mutation_p.H680Y|MAGI2_ENST00000535697.1_Missense_Mutation_p.H517Y|MAGI2_ENST00000419488.1_Missense_Mutation_p.H680Y|MAGI2_ENST00000536571.1_Missense_Mutation_p.H512Y NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 680 PDZ 3. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CCTCCTCGATGGATAATCAAA 0.368000 13 9 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906490 13906490 + Silent SNP G G A rs142203984 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr12:13906490G>A ENST00000279593.3 - 3 980 c.771C>T c.(769-771)atC>atT p.I257I NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 257 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.I257I(2) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GACTGGGCACGATCCACGTGT 0.532000 15 50 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42719114 42719114 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr5:42719114C>T ENST00000230882.4 + 10 1695 c.1505C>T c.(1504-1506)tCc>tTc p.S502F GHR_ENST00000357703.3_Missense_Mutation_p.S480F|GHR_ENST00000537449.1_Missense_Mutation_p.S315F NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 502 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GTGGTCCTTTCCCCGGGCCAA 0.488000 13 47 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179424820 179424820 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:179424820C>T ENST00000589042.1 - 326 86263 c.86039G>A c.(86038-86040)gGg>gAg p.G28680E TTN_ENST00000342175.6_Missense_Mutation_p.G19807E|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G26112E|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G19740E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G27039E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G19615E|TTN-AS1_ENST00000586707.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27039 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) TATCGGGGCCCCACCATCAAA 0.438000 15 47 0 0 1 0 0 DDX1 1653 broad.mit.edu 37 2 15761225 15761225 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr2:15761225G>A ENST00000381341.2 + 19 1821 c.1432G>A c.(1432-1434)Ggt>Agt p.G478S DDX1_ENST00000233084.3_Missense_Mutation_p.G478S Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 478 Necessary for interaction with RELA. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) CACAAGACCTGGTGCTAATAG 0.338000 3 25 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77244459 77244459 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr4:77244459G>A ENST00000388914.3 - 23 3413 c.3261C>T c.(3259-3261)aaC>aaT p.N1087N NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 1087 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 CTGTACCTTGGTTCTTCAGCT 0.433000 34 117 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51020867 51020867 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr19:51020867C>T ENST00000599957.1 - 3 2300 c.2103G>A c.(2101-2103)aaG>aaA p.K701K LRRC4B_ENST00000389201.3_Silent_p.K701K Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 701 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) TGGAGCCGCTCTTGAAGAGCA 0.716000 15 37 0 0 1 0 0 IGHE 3497 broad.mit.edu 37 14 106067995 106067995 + RNA SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr14:106067995G>A ENST00000390540.2 - 0 390 CAGAGTCACGGAGGTGGCATT 0.612000 10 37 0 0 1 0 0 EFCAB2 84288 broad.mit.edu 37 1 245246775 245246775 + Nonsense_Mutation SNP C C T rs149676779 TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr1:245246775C>T ENST00000366522.2 + 6 844 c.703C>T c.(703-705)Cga>Tga p.R235* EFCAB2_ENST00000447569.2_Nonsense_Mutation_p.R99*|EFCAB2_ENST00000487845.1_3'UTR|EFCAB2_ENST00000366523.1_Nonsense_Mutation_p.R99* Q5VUJ9 EFCB2_HUMAN EF-hand calcium binding domain 2 235 EF-hand 2. calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2) 13 all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982) OV - Ovarian serous cystadenocarcinoma(106;0.015) TGTCCTTCTTCGAGCTTTTGA 0.299000 38 57 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139371859 139371859 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr9:139371859G>A ENST00000313050.7 - 1 282 c.209C>T c.(208-210)tCg>tTg p.S70L NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 2033 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GCTTTTGGACGAACTGCCCAG 0.552000 17 63 0 0 1 0 0 SLC25A18 83733 broad.mit.edu 37 22 18070826 18070826 + Silent SNP C C T rs140762646 byFrequency TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:18070826C>T ENST00000327451.5 + 9 1249 c.711C>T c.(709-711)gtC>gtT p.V237V SLC25A18_ENST00000399813.1_Silent_p.V237V|AC004019.13_ENST00000443935.1_RNA NM_031481.1 NP_113669.1 Q9H1K4 GHC2_HUMAN solute carrier family 25 (glutamate carrier), member 18 237 integral to membrane|mitochondrial inner membrane binding|symporter activity breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 18 Lung(27;0.124) L-Glutamic Acid(DB00142) TAGCTGCGGTCGCAGTGACGC 0.507000 13 68 0 0 1 0 0 RBM33 155435 broad.mit.edu 37 7 155531073 155531074 + Frame_Shift_Del DEL CA CA - TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr7:155531073_155531074delCA ENST00000401878.3 + 11 1911_1912 c.1713_1714delCA c.(1711-1716)cccafs p.PT571fs NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 571 Pro-rich. nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) CGTTTCTGCCCACACACACACA 0.530 8 106 --- --- --- --- MIR30B 407030 broad.mit.edu 37 8 135812799 135812799 + RNA DEL A A - TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr8:135812799delA ENST00000384850.1 - 0 51 NR_029666.1 CCTCCCAGCCAATCCATGTAT 0.358 2 4 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 5 8 --- --- --- --- ADNP2 22850 broad.mit.edu 37 18 77894260 77894261 + Frame_Shift_Ins INS - - C TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr18:77894260_77894261insC ENST00000262198.4 + 4 1419_1420 c.964_965insC c.(964-966)cccfs p.P322fs NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 322 Pro-rich. cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A325fs*59(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CCTCACTCATTCCCCCCCTGCT 0.644 7 118 --- --- --- --- SCARF2 91179 broad.mit.edu 37 22 20791941 20791943 + In_Frame_Del DEL AGC AGC - TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f847e731-a011-4574-ac71-8cfbf9c07d17 40e54493-bdf6-4cee-83d1-90f7bb38484d g.chr22:20791941_20791943delAGC ENST00000405555.3 - 1 169_171 c.99_101delGCT c.(97-102)ctc>ct p.LL33del SCARF2_ENST00000266214.5_In_Frame_Del_p.LL33del NM_182895.2 NP_878315.1 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 33 cell adhesion integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 10 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CAGCATCCAGagcagcagcagca 0.778 3 4 --- --- --- ---