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 COL4A4 1286 broad.mit.edu 37 2 227892726 227892726 + Splice_Site SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:227892726C>T ENST00000396625.3 - 42 4181 c.e42-1 COL4A4_ENST00000329662.7_Splice_Site NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 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) CCCACTGGTCCTTAAAAAAAA 0.463000 9 18 0 0 1 0 0 SMARCB1 6598 broad.mit.edu 37 22 24175874 24175874 + Nonsense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr22:24175874C>T ENST00000344921.6 + 8 1336 c.1129C>T c.(1129-1131)Cag>Tag p.Q377* SMARCB1_ENST00000407422.3_Nonsense_Mutation_p.Q359*|SMARCB1_ENST00000407082.3_Nonsense_Mutation_p.Q322*|SMARCB1_ENST00000263121.7_Nonsense_Mutation_p.Q368* Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 368 cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(2)|p.Q368*(2)|p.Q377*(1)|p.L266_*386del(1) bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194) 458 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) GATCCGCGACCAGGACAGGAA 0.622000 """D, N, F, S""" malignant rhabdoid malignant rhabdoid 31 71 0 0 1 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42282347 42282347 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr15:42282347C>T ENST00000399518.3 - 14 2043 c.1557G>A c.(1555-1557)aaG>aaA p.K519K CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Silent_p.K490K NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 507 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) TTACATCATCCTTGACATTGA 0.527000 119 158 0 0 1 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92981814 92981814 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr15:92981814G>A ENST00000268164.3 + 4 759 c.522G>A c.(520-522)gaG>gaA p.E174E ST8SIA2_ENST00000539113.1_Silent_p.E153E NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 174 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) GTGGGCAGGAGATTGACGCCC 0.602000 27 51 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128320840 128320840 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr5:128320840G>A ENST00000262462.4 + 2 1506 c.496G>A c.(496-498)Gta>Ata p.V166I SLC27A6_ENST00000506176.1_Missense_Mutation_p.V166I|SLC27A6_ENST00000395266.1_Missense_Mutation_p.V166I Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 166 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) GCTTGGAACGGTAGAAGAAAT 0.388000 19 31 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73053279 73053279 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr10:73053279C>T ENST00000335350.6 + 12 2306 c.1890C>T c.(1888-1890)gcC>gcT p.A630A UNC5B_ENST00000373192.4_Silent_p.A619A NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 630 ZU5. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 AAGTCAGTGCCCGTGACTGGA 0.657000 49 29 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128320839 128320839 + Silent SNP G G A rs148544932 TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr5:128320839G>A ENST00000262462.4 + 2 1505 c.495G>A c.(493-495)acG>acA p.T165T SLC27A6_ENST00000506176.1_Silent_p.T165T|SLC27A6_ENST00000395266.1_Silent_p.T165T Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 165 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TGCTTGGAACGGTAGAAGAAA 0.388000 18 30 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179077937 179077937 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:179077937G>A ENST00000502732.1 - 12 2668 c.2465C>T c.(2464-2466)cCa>cTa p.P822L ABL2_ENST00000344730.3_Missense_Mutation_p.P704L|ABL2_ENST00000367623.4_Missense_Mutation_p.P801L|ABL2_ENST00000511413.1_Missense_Mutation_p.P719L|ABL2_ENST00000507173.1_Missense_Mutation_p.P698L|ABL2_ENST00000512653.1_Missense_Mutation_p.P807L|ABL2_ENST00000504405.1_Missense_Mutation_p.P683L|ABL2_ENST00000408940.3_Missense_Mutation_p.P786L NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 822 F-actin-binding (By similarity). axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) ATTCTCTTCTGGCTGAGAAGA 0.517000 T ETV6 AML 10 75 0 0 1 0 0 SLC25A27 9481 broad.mit.edu 37 6 46623671 46623671 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr6:46623671C>T ENST00000371347.5 + 2 450 c.198C>T c.(196-198)gcC>gcT p.A66A SLC25A27_ENST00000411689.2_Silent_p.A66A|SLC25A27_ENST00000452689.2_5'UTR NM_001204051.1|NM_004277.4 NP_001190980.1|NP_004268.3 O95847 UCP4_HUMAN solute carrier family 25, member 27 66 generation of precursor metabolites and energy|transport integral to membrane|mitochondrial inner membrane p.A66A(1) central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1) 8 Lung(136;0.192) GAGAATCTGCCCCCTATAGGG 0.502000 52 77 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95718529 95718529 + RNA SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr10:95718529C>T ENST00000480546.1 - 0 2768 NR_002319.2 CCCATGCAGTCCCCTGAGCAG 0.478000 22 7 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16959628 16959628 + RNA SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:16959628G>A ENST00000412962.1 - 0 74 CACCCACCAGGGACCCTCCTG 0.602000 5 52 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454588 84454588 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr13:84454588C>T ENST00000377084.2 - 1 1940 c.1055G>A c.(1054-1056)gGg>gAg p.G352E NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 352 LRRNT 2. integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TAAACCCGACCCTGGGATGTG 0.537000 57 73 0 0 1 0 0 SLC5A9 200010 broad.mit.edu 37 1 48697297 48697297 + Splice_Site SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:48697297G>A ENST00000236495.5 + 7 816 c.766_splice c.e7+1 p.G256_splice SLC5A9_ENST00000533824.1_Splice_Site_p.G252_splice|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000438567.2_Splice_Site_p.G231_splice NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 231 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 CATGTTTCTGGGTAAGGAAGA 0.522000 20 39 0 0 1 0 0 CYP19A1 1588 broad.mit.edu 37 15 51503047 51503047 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr15:51503047C>T ENST00000396402.1 - 10 1623 c.1470G>A c.(1468-1470)atG>atA p.M490I CYP19A1_ENST00000260433.2_Missense_Mutation_p.M490I|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Missense_Mutation_p.M490I|CYP19A1_ENST00000559878.1_Missense_Mutation_p.M490I NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 490 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) GGGTAAAGATCATTTCCAGCA 0.448000 106 93 0 0 1 0 0 ACO1 48 broad.mit.edu 37 9 32449071 32449071 + Nonsense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr9:32449071C>T ENST00000379923.1 + 21 2754 c.2548C>T c.(2548-2550)Cag>Tag p.Q850* ACO1_ENST00000309951.5_Nonsense_Mutation_p.Q850*|ACO1_ENST00000541043.1_Nonsense_Mutation_p.Q751* NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble 850 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) AATGAAAGTCCAGGTCAAGGT 0.478000 19 8 0 0 1 0 0 CAV3 859 broad.mit.edu 37 3 8775623 8775623 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr3:8775623G>A ENST00000343849.2 + 1 138 c.61G>A c.(61-63)Gag>Aag p.E21K CAV3_ENST00000397368.2_Missense_Mutation_p.E21K|SSUH2_ENST00000478513.1_Intron|CAV3_ENST00000472766.1_3'UTR NM_001234.4|NM_033337.2 NP_001225.1|NP_203123.1 P56539 CAV3_HUMAN caveolin 3 21 cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1) 11 CCACTGCAAGGAGATTGACCT 0.572000 10 40 0 0 1 0 0 ADRM1 11047 broad.mit.edu 37 20 60883138 60883138 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr20:60883138C>T ENST00000253003.2 + 8 964 c.918C>T c.(916-918)gtC>gtT p.V306V LAMA5_ENST00000492698.1_5'UTR NM_007002.2|NM_175573.1 NP_008933.2|NP_783163.1 Q16186 ADRM1_HUMAN adhesion regulating molecule 1 306 proteasome assembly|transcription elongation from RNA polymerase II promoter cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex endopeptidase activator activity|protease binding|proteasome binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1) 5 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;2.51e-06) ACGCGGATGTCCAGGAGCGCC 0.627000 16 16 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1992122 1992122 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr12:1992122C>T ENST00000382722.5 - 13 1758 c.1396G>A c.(1396-1398)Gtg>Atg p.V466M CACNA2D4_ENST00000588077.1_Missense_Mutation_p.V402M|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.V351M|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.V402M|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.V466M|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.V466M NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 466 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TATTCCATCACGTTCTCCTGG 0.622000 3 22 0 0 1 0 0 ZMYM1 79830 broad.mit.edu 37 1 35579871 35579871 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:35579871C>T ENST00000373330.1 + 11 2614 c.2440C>T c.(2440-2442)Cgt>Tgt p.R814C ZMYM1_ENST00000359858.4_Missense_Mutation_p.R814C|ZMYM1_ENST00000373329.1_3'UTR Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 814 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGTCCATGATCGTACATTACT 0.358000 27 58 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89653829 89653829 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr10:89653829G>A ENST00000371953.3 + 2 1484 c.127G>A c.(127-129)Gaa>Aaa p.E43K NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 43 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.E43fs*11(1)|p.E43*(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AGAAAGACTTGAAGGCGTATA 0.294000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 35 14 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103453274 103453274 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:103453274G>A ENST00000358392.2 - 30 2770 c.2453C>T c.(2452-2454)cCa>cTa p.P818L COL11A1_ENST00000512756.1_Missense_Mutation_p.P690L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P767L|COL11A1_ENST00000370096.3_Missense_Mutation_p.P806L NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 806 Triple-helical 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) TTCCCCTCTTGGGCCAATTTG 0.458000 28 43 0 0 1 0 0 TWIST2 117581 broad.mit.edu 37 2 239757124 239757124 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:239757124C>T ENST00000448943.2 + 1 452 c.268C>T c.(268-270)Cgc>Tgc p.R90C NM_057179.2 NP_476527.1 Q8WVJ9 TWST2_HUMAN twist family bHLH transcription factor 2 90 Helix-loop-helix motif. negative regulation of osteoblast differentiation cytoplasm DNA binding CGCGGCGCTGCGCAAGATCAT 0.647000 3 9 0 0 1 0 0 GFOD1 54438 broad.mit.edu 37 6 13365624 13365624 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr6:13365624G>A ENST00000379287.3 - 2 1188 c.524C>T c.(523-525)tCc>tTc p.S175F GFOD1_ENST00000379284.1_Missense_Mutation_p.S72F NM_018988.3 NP_061861.1 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain containing 1 175 extracellular region binding|oxidoreductase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2) 18 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) GGTGCCCACGGAGTGCAGGCC 0.637000 14 24 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 6 66 0 0 1 0 0 CD274 29126 broad.mit.edu 37 9 5466801 5466801 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr9:5466801C>T ENST00000381577.3 + 6 908 c.822C>T c.(820-822)atC>atT p.I274I CD274_ENST00000381573.4_Silent_p.I160I|CD274_ENST00000498261.1_3'UTR NM_014143.3 NP_054862.1 Q9NZQ7 PD1L1_HUMAN CD274 molecule 274 cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation endomembrane system|integral to membrane receptor activity p.I274I(2) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 11 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111) AATGTGGCATCCAAGATACAA 0.343000 T CIITA """PMBL, Hodgkin Lymphona, """ 25 11 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92101085 92101085 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr13:92101085G>A ENST00000377067.3 + 2 606 c.234G>A c.(232-234)caG>caA p.Q78Q NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 78 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) AGAGATATCAGATTGCGGCTC 0.428000 58 86 0 0 1 0 0 ACSM3 6296 broad.mit.edu 37 16 20803375 20803375 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr16:20803375G>A ENST00000289416.5 + 11 1853 c.1378G>A c.(1378-1380)Ggg>Agg p.G460R ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.G452R|ERI2_ENST00000300005.3_Intron NM_005622.3 NP_005613.2 Q53FZ2 ACSM3_HUMAN acyl-CoA synthetase medium-chain family member 3 460 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 CTATATCACTGGGGACAGAGG 0.378000 69 116 0 0 1 0 0 INPP5K 51763 broad.mit.edu 37 17 1401312 1401312 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr17:1401312G>A ENST00000406424.4 - 10 1513 c.653C>T c.(652-654)tCc>tTc p.S218F INPP5K_ENST00000320345.6_Missense_Mutation_p.S218F|INPP5K_ENST00000542125.1_Missense_Mutation_p.S198F|INPP5K_ENST00000397335.3_Missense_Mutation_p.S202F|INPP5K_ENST00000421807.2_Missense_Mutation_p.S294F NM_001135642.1 NP_001129114.1 Q9BT40 INP5K_HUMAN inositol polyphosphate-5-phosphatase K 294 Catalytic (Potential). actin cytoskeleton organization cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding endometrium(1)|large_intestine(7)|lung(3)|skin(1) 12 CAGAGACAAGGAGAAGTGTGA 0.612000 86 141 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453559 84453559 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr13:84453559G>A ENST00000377084.2 - 1 2969 c.2084C>T c.(2083-2085)tCa>tTa p.S695L NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 695 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GTCTTAGTCTGAGAGCGAGTG 0.587000 18 26 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210560367 210560367 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:210560367C>T ENST00000360351.4 + 7 3979 c.3473C>T c.(3472-3474)tCa>tTa p.S1158L MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.S1154L|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1158 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TCTCCAGAATCATCTCTAATT 0.453000 49 65 0 0 1 0 0 SLC25A40 55972 broad.mit.edu 37 7 87476272 87476272 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr7:87476272G>A ENST00000341119.5 - 8 969 c.623C>T c.(622-624)cCt>cTt p.P208L NM_018843.3 NP_061331.2 Q8TBP6 S2540_HUMAN solute carrier family 25, member 40 208 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 17 Esophageal squamous(14;0.00202) ACCTGAGAAAGGTACATCTCT 0.373000 87 73 0 0 1 0 0 RPRD1A 55197 broad.mit.edu 37 18 33647303 33647303 + Missense_Mutation SNP C C A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr18:33647303C>A ENST00000399022.4 - 1 236 c.65G>T c.(64-66)aGc>aTc p.S22I RPRD1A_ENST00000357384.4_Missense_Mutation_p.S22I|RPRD1A_ENST00000590898.1_5'UTR|RPRD1A_ENST00000588737.1_5'UTR|RPRD1A_ENST00000319040.6_Missense_Mutation_p.S22I NM_018170.3 NP_060640.2 Q96P16 RPR1A_HUMAN regulation of nuclear pre-mRNA domain containing 1A 22 CID. NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2) 12 GGTCTGCACGCTCTGCTGCGA 0.622000 5 7 0.014758 0.014808 1 1 0 RNF43 54894 broad.mit.edu 37 17 56435546 56435546 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr17:56435546G>A ENST00000584437.1 - 8 3546 c.1591C>T c.(1591-1593)Cgt>Tgt p.R531C BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Missense_Mutation_p.R531C|RNF43_ENST00000581868.1_Missense_Mutation_p.R404C|RNF43_ENST00000577625.1_Missense_Mutation_p.R404C|RNF43_ENST00000500597.2_Missense_Mutation_p.R490C|RNF43_ENST00000583753.1_Missense_Mutation_p.R490C|RNF43_ENST00000407977.2_Missense_Mutation_p.R531C Q68DV7 RNF43_HUMAN ring finger protein 43 531 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) TCCAAGGAACGAGGCCGAGAG 0.597000 64 83 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204970382 204970382 + Missense_Mutation SNP C C G TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:204970382C>G ENST00000367172.4 + 28 3753 c.3425C>G c.(3424-3426)cCc>cGc p.P1142R NFASC_ENST00000404076.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.P1127R|NFASC_ENST00000339876.6_Missense_Mutation_p.P1035R|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000367170.4_Missense_Mutation_p.P1063R|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000401399.1_Missense_Mutation_p.P1035R|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000338515.6_Intron O94856 NFASC_HUMAN neurofascin 1142 Fibronectin type-III 5. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AATTTCGGGCCCGGAACTGAC 0.587000 8 24 0 0 1 0 0 TRIM2 23321 broad.mit.edu 37 4 154216955 154216955 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr4:154216955G>A ENST00000338700.5 + 6 1342 c.1277G>A c.(1276-1278)gGg>gAg p.G426E TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.G399E NM_015271.3 NP_056086.2 Q9C040 TRIM2_HUMAN tripartite motif containing 2 399 cytoplasm zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1) 19 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) CAGAAGGAAGGGGACTTTACC 0.557000 31 64 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152284145 152284145 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:152284145C>T ENST00000368799.1 - 3 3252 c.3217G>A c.(3217-3219)Gat>Aat p.D1073N FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1073 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) CCCTCACTATCACTGGCCTGA 0.577000 Ichthyosis 259 779 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98741862 98741862 + Missense_Mutation SNP C C T rs150999644 TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr10:98741862C>T ENST00000286067.2 + 1 822 c.715C>T c.(715-717)Cca>Tca p.P239S NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 239 p.P239S(1) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CCTTACAATTCCAGCCCCTAG 0.493000 67 22 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108112877 108112877 + Splice_Site SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr3:108112877C>T ENST00000273353.3 - 37 5376 c.e37+1 NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 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 AAGGGACCCACCTCAATGGCT 0.537000 51 62 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28650811 28650811 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr18:28650811G>A ENST00000280904.6 - 14 2574 c.2131C>T c.(2131-2133)Ctg>Ttg p.L711L DSC2_ENST00000251081.6_Silent_p.L711L NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 711 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) AGCGTAAACAGGATGCCTGGA 0.348000 22 53 0 0 1 0 0 PTTG2 10744 broad.mit.edu 37 4 37962067 37962067 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr4:37962067G>A ENST00000504686.1 + 1 12 c.12G>A c.(10-12)ctG>ctA p.L4L TBC1D1_ENST00000261439.4_Intron|TBC1D1_ENST00000508802.1_Intron NM_006607.2 NP_006598.2 Q9NZH5 PTTG2_HUMAN pituitary tumor-transforming 2 4 chromosome organization|DNA metabolic process cytoplasm|nucleus SH3 domain binding breast(1)|endometrium(1)|lung(4)|skin(1) 7 TGGCTACTCTGATCTACGTTG 0.438000 17 34 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149482222 149482222 + RNA SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr7:149482222G>A ENST00000378016.2 + 0 2896 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) TGCCCAGGACGAGCGCTGTGT 0.637000 65 42 0 0 1 0 0 FGF14 2259 broad.mit.edu 37 13 102375280 102375280 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr13:102375280C>T ENST00000376131.4 - 5 755 c.660G>A c.(658-660)ggG>ggA p.G220G ITGBL1_ENST00000415285.1_3'UTR|FGF14_ENST00000376143.4_Silent_p.G215G NM_175929.2 NP_787125.1 Q92915 FGF14_HUMAN fibroblast growth factor 14 215 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2) 29 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGACCGTTTCCCCAACATCAT 0.478000 36 62 0 0 1 0 0 PACSIN1 29993 broad.mit.edu 37 6 34498027 34498027 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr6:34498027C>T ENST00000538621.1 + 7 1041 c.796C>T c.(796-798)Cat>Tat p.H266Y PACSIN1_ENST00000244458.2_Missense_Mutation_p.H266Y|PACSIN1_ENST00000374043.2_Missense_Mutation_p.H224Y NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 266 endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 CAGCTACATCCATGTGTACCG 0.617000 10 26 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296282 39296282 + Missense_Mutation SNP G G T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr17:39296282G>T ENST00000345847.4 - 1 457 c.458C>A c.(457-459)tCt>tAt p.S153Y NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 149 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ttcacagcaagaggggcggca 0.662000 4 62 2.56e-06 2.60399e-06 1 1 0 CCDC80 151887 broad.mit.edu 37 3 112358356 112358356 + Missense_Mutation SNP G G A rs35973273 TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr3:112358356G>A ENST00000206423.3 - 2 1350 c.397C>T c.(397-399)Cct>Tct p.P133S CCDC80_ENST00000439685.2_Missense_Mutation_p.P133S|CCDC80_ENST00000475181.1_5'UTR NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 133 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 GACCCCGAAGGGAAACGCAAC 0.592000 55 102 0 0 1 0 0 ITM2C 81618 broad.mit.edu 37 2 231738153 231738153 + Nonsense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:231738153C>T ENST00000326427.6 + 2 268 c.142C>T c.(142-144)Cga>Tga p.R48* ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000335005.6_Intron|ITM2C_ENST00000409704.2_5'UTR|ITM2C_ENST00000326407.6_Nonsense_Mutation_p.R48* NM_030926.4 NP_112188.1 Q9NQX7 ITM2C_HUMAN integral membrane protein 2C 48 negative regulation of neuron projection development|neuron differentiation Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm beta-amyloid binding cervix(2)|lung(1)|ovary(1)|skin(1) 5 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) CCCACAACATCGATCCAAGAG 0.627000 14 24 0 0 1 0 0 TMEM14E 645843 broad.mit.edu 37 3 152058688 152058688 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr3:152058688C>T ENST00000408960.3 - 1 91 c.6G>A c.(4-6)caG>caA p.Q2Q MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000282486.6_Intron NM_001123228.1 NP_001116700.1 Q6UXP3 TM14E_HUMAN transmembrane protein 14E 2 integral to membrane lung(1) 1 CAGGGTCCATCTGCATTGTTC 0.498000 18 41 0 0 1 0 0 KIF20B 9585 broad.mit.edu 37 10 91497757 91497757 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr10:91497757C>T ENST00000416354.1 + 20 3321 c.3249C>T c.(3247-3249)ttC>ttT p.F1083F KIF20B_ENST00000394289.2_Silent_p.F1053F|KIF20B_ENST00000260753.4_Silent_p.F1013F|KIF20B_ENST00000371728.3_Silent_p.F1053F|KIF20B_ENST00000478929.1_3'UTR Q96Q89 KI20B_HUMAN kinesin family member 20B 1053 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 AAAATTCTTTCCACTCTAGTA 0.333000 48 23 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137763658 137763658 + Silent SNP T T C TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr5:137763658T>C ENST00000314358.5 + 20 4836 c.4636T>C c.(4636-4638)Ttg>Ctg p.L1546L KDM3B_ENST00000542866.1_Silent_p.L578L|KDM3B_ENST00000394866.1_Silent_p.L1202L NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1546 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 TCCTTTAGGGTTGATAACAGC 0.408000 111 144 0 0 1 0 0 NME8 51314 broad.mit.edu 37 7 37904009 37904009 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr7:37904009G>A ENST00000199447.4 + 9 886 c.514G>A c.(514-516)Gaa>Aaa p.E172K EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.E172K NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 172 NDK 1. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity AAAAGTTCTAGAAATTAAAAG 0.274000 6 35 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42475518 42475518 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr17:42475518G>A ENST00000434000.1 - 9 3975 c.3693C>T c.(3691-3693)ccC>ccT p.P1231P GPATCH8_ENST00000591680.1_Silent_p.P1309P Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1309 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) TGAAGGTGATGGGCTGGCTTT 0.557000 53 77 0 0 1 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65714442 65714442 + RNA SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr11:65714442C>T ENST00000532620.1 + 0 470 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein endometrium(2)|kidney(3)|lung(9) 14 GACCGCAAGCCCAGGGGCCAG 0.607000 21 48 0 0 1 0 0 PIBF1 10464 broad.mit.edu 37 13 73572997 73572997 + Missense_Mutation SNP A A T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr13:73572997A>T ENST00000326291.6 + 17 2425 c.2087A>T c.(2086-2088)cAt>cTt p.H696L PIBF1_ENST00000489922.1_3'UTR NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 696 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) GTTAAGATGCATAGTAAACAT 0.343000 27 47 0 0 1 0 0 ADRM1 11047 broad.mit.edu 37 20 60883139 60883139 + Nonsense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr20:60883139C>T ENST00000253003.2 + 8 965 c.919C>T c.(919-921)Cag>Tag p.Q307* LAMA5_ENST00000492698.1_5'UTR NM_007002.2|NM_175573.1 NP_008933.2|NP_783163.1 Q16186 ADRM1_HUMAN adhesion regulating molecule 1 307 proteasome assembly|transcription elongation from RNA polymerase II promoter cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex endopeptidase activator activity|protease binding|proteasome binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1) 5 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;2.51e-06) CGCGGATGTCCAGGAGCGCCT 0.622000 16 16 0 0 1 0 0 NRP1 8829 broad.mit.edu 37 10 33545302 33545302 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr10:33545302C>T ENST00000265371.4 - 6 1281 c.756G>A c.(754-756)gcG>gcA p.A252A NRP1_ENST00000374816.3_Silent_p.A252A|NRP1_ENST00000374822.4_Silent_p.A252A|NRP1_ENST00000374867.2_Silent_p.A252A|NRP1_ENST00000374821.5_Silent_p.A252A|NRP1_ENST00000395995.1_Silent_p.A252A|NRP1_ENST00000374823.5_Silent_p.A252A O14786 NRP1_HUMAN neuropilin 1 252 CUB 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) CTTTTGCTATCGCGCTGTCGG 0.473000 53 24 0 0 1 0 0 SULT2B1 6820 broad.mit.edu 37 19 49094967 49094967 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr19:49094967C>T ENST00000323090.4 + 3 855 c.480C>T c.(478-480)ttC>ttT p.F160F SULT2B1_ENST00000594274.1_3'UTR|SULT2B1_ENST00000201586.2_Silent_p.F175F NM_004605.2 NP_004596.2 O00204 ST2B1_HUMAN sulfotransferase family, cytosolic, 2B, member 1 175 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 11 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;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178) CCGACCAGTTCCTGAGGGACT 0.627000 8 12 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31387101 31387101 + Nonsense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr20:31387101C>T ENST00000328111.2 + 16 2047 c.1726C>T c.(1726-1728)Cga>Tga p.R576* DNMT3B_ENST00000201963.3_Nonsense_Mutation_p.R568*|DNMT3B_ENST00000353855.2_Nonsense_Mutation_p.R556*|DNMT3B_ENST00000344505.4_Nonsense_Mutation_p.R556*|DNMT3B_ENST00000456297.2_Nonsense_Mutation_p.R480*|DNMT3B_ENST00000443239.3_Nonsense_Mutation_p.R514*|DNMT3B_ENST00000348286.2_Nonsense_Mutation_p.R556*|DNMT3B_ENST00000375623.4_3'UTR NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 576 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GCGGCCCATTCGAGTCCTGTC 0.587000 11 11 0 0 1 0 0 IFT74 80173 broad.mit.edu 37 9 27011931 27011931 + Missense_Mutation SNP G G C TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr9:27011931G>C ENST00000443698.1 + 10 925 c.754G>C c.(754-756)Gat>Cat p.D252H IFT74_ENST00000429045.2_Missense_Mutation_p.D252H|IFT74_ENST00000380062.5_Missense_Mutation_p.D252H|IFT74_ENST00000433700.1_Missense_Mutation_p.D252H NM_001099222.1 NP_001092692.1 Q96LB3 IFT74_HUMAN intraflagellar transport 74 homolog (Chlamydomonas) 252 cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 6 all_neural(11;2.36e-10) Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114) ACAACAATTGGATTCACAGAA 0.328000 6 4 0 0 1 0 0 KRT2 3849 broad.mit.edu 37 12 53043718 53043718 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr12:53043718C>T ENST00000309680.3 - 3 862 c.841G>A c.(841-843)Gat>Aat p.D281N NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 281 Coil 1B.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) GTCACAAAATCATTCTCAGCA 0.448000 25 49 0 0 1 0 0 HSPA4L 22824 broad.mit.edu 37 4 128748467 128748467 + Missense_Mutation SNP G G A rs141383757 byFrequency TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr4:128748467G>A ENST00000296464.3 + 17 2465 c.2054G>A c.(2053-2055)gGc>gAc p.G685D HSPA4L_ENST00000439123.2_Missense_Mutation_p.G716D|HSPA4L_ENST00000505726.1_Missense_Mutation_p.G659D|HSPA4L_ENST00000508776.1_Missense_Mutation_p.G685D NM_014278.2 NP_055093.2 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 685 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 CAGAAATACGGCCAGCCTATT 0.323000 34 44 0 0 1 0 0 RNF217-AS1 7955 broad.mit.edu 37 6 125233680 125233680 + RNA SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr6:125233680C>T ENST00000439075.1 - 0 1065 NR_026876.1 TGCCAAGGGACTTACTGCCTC 0.418000 13 3 0 0 1 0 0 COL26A1 136227 broad.mit.edu 37 7 101190506 101190506 + RNA SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr7:101190506C>T ENST00000313669.7 + 0 1118 COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 CCCCGGGGTCCCCCTGGTCCA 0.667000 11 5 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55540286 55540286 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr8:55540286C>T ENST00000220676.1 + 4 3992 c.3844C>T c.(3844-3846)Cct>Tct p.P1282S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1282 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) CACTTTTTTTCCTAGTGATGG 0.408000 78 161 0 0 1 0 0 TARSL2 123283 broad.mit.edu 37 15 102215871 102215871 + Nonsense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr15:102215871G>A ENST00000335968.3 - 13 1936 c.1720C>T c.(1720-1722)Caa>Taa p.Q574* NM_152334.2 NP_689547.2 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 574 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGGTTTAATTGAAAGGAGAAG 0.383000 67 65 0 0 1 0 0 AMPD2 271 broad.mit.edu 37 1 110169802 110169802 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:110169802C>T ENST00000256578.3 + 7 1246 c.886C>T c.(886-888)Ccg>Tcg p.P296S AMPD2_ENST00000528454.1_Missense_Mutation_p.P178S|AMPD2_ENST00000528667.1_Missense_Mutation_p.P296S|AMPD2_ENST00000358729.4_Missense_Mutation_p.P221S|AMPD2_ENST00000393688.3_Missense_Mutation_p.P177S|AMPD2_ENST00000342115.4_Missense_Mutation_p.P215S|AMPD2_ENST00000526301.1_3'UTR NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 296 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) TGCAGATGCCCCGGTGCACCC 0.637000 33 48 0 0 1 0 0 LAMP1 3916 broad.mit.edu 37 13 113975899 113975899 + Missense_Mutation SNP C C G TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr13:113975899C>G ENST00000332556.4 + 8 1165 c.971C>G c.(970-972)tCc>tGc p.S324C LAMP1_ENST00000397181.3_Missense_Mutation_p.S271C NM_005561.3 NP_005552.3 P11279 LAMP1_HUMAN lysosomal-associated membrane protein 1 324 Second lumenal domain. endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2) 16 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) GCCAACGGCTCCCTGCGAGCG 0.597000 38 68 0 0 1 0 0 KRT39 390792 broad.mit.edu 37 17 39122699 39122699 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr17:39122699G>A ENST00000355612.2 - 1 445 c.410C>T c.(409-411)cCt>cTt p.P137L AC004231.2_ENST00000418393.1_RNA NM_213656.3 NP_998821.3 Q6A163 K1C39_HUMAN keratin 39 137 Linker 1.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) ACATAGAACAGGGAGCTCTTT 0.423000 59 97 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67267828 67267828 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr16:67267828G>A ENST00000258201.4 - 13 2025 c.1778C>T c.(1777-1779)cCc>cTc p.P593L FHOD1_ENST00000567687.1_Missense_Mutation_p.P172L NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 593 FH1.|Poly-Pro. 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) GCCTTTGATGGGTGGGGGAGG 0.637000 21 5 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15936848 15936848 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr5:15936848G>A ENST00000504595.1 + 4 1510 c.1029G>A c.(1027-1029)cgG>cgA p.R343R FBXL7_ENST00000329673.7_Silent_p.R331R|FBXL7_ENST00000510662.1_Silent_p.R296R NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 343 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 TCGGCCTGCGGGAGATCGCCA 0.662000 11 14 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119592159 119592159 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr12:119592159G>A ENST00000267260.4 + 12 1891 c.1503G>A c.(1501-1503)ccG>ccA p.P501P NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 501 Arg-rich.|Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 GAGACTCCCCGAGCCACCTGG 0.632000 7 12 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70977757 70977757 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr16:70977757G>A ENST00000393567.2 - 42 6777 c.6627C>T c.(6625-6627)ctC>ctT p.L2209L NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2209 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) GTTCATCCGGGAGCACACAGC 0.627000 12 23 0 0 1 0 0 COLGALT1 79709 broad.mit.edu 37 19 17690353 17690353 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr19:17690353C>T ENST00000252599.4 + 10 1449 c.1329C>T c.(1327-1329)ttC>ttT p.F443F NM_024656.2 NP_078932.2 collagen beta(1-O)galactosyltransferase 1 TTGAGATCTTCTTCAAGAGAC 0.597000 53 98 0 0 1 0 0 ZNF93 81931 broad.mit.edu 37 19 20045607 20045607 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr19:20045607C>T ENST00000343769.5 + 4 1871 c.1843C>T c.(1843-1845)Cat>Tat p.H615Y AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 615 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 TGAGATAATTCATACTGGGGA 0.408000 23 37 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33346697 33346697 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr20:33346697G>A ENST00000374796.2 - 7 3124 c.554C>T c.(553-555)cCc>cTc p.P185L NCOA6_ENST00000359003.2_Missense_Mutation_p.P185L Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 185 CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 TCCACCCGGGGGTATCATAAC 0.458000 58 54 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196620890 196620890 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:196620890C>T ENST00000312428.6 - 62 11653 c.11553G>A c.(11551-11553)gtG>gtA p.V3851V DNAH7_ENST00000409063.1_Silent_p.V334V NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3851 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 GGAAGTCATTCACATAGCTGC 0.383000 30 45 0 0 1 0 0 RASSF9 9182 broad.mit.edu 37 12 86198973 86198973 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr12:86198973C>T ENST00000361228.3 - 2 1183 c.815G>A c.(814-816)cGa>cAa p.R272Q NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 272 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATATTTCAGTCGTTCTTCCAG 0.393000 70 79 0 0 1 0 0 RAB5B 5869 broad.mit.edu 37 12 56385913 56385913 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr12:56385913C>T ENST00000360299.5 + 6 786 c.565C>T c.(565-567)Ctg>Ttg p.L189L RAB5B_ENST00000448789.2_Silent_p.L148L|RAB5B_ENST00000553116.1_Silent_p.L189L NM_002868.3 NP_002859.1 P61020 RAB5B_HUMAN RAB5B, member RAS oncogene family 189 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|membrane fraction|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1) 9 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235) ACCCCAGAATCTGGGAGGTGC 0.527000 21 39 0 0 1 0 0 GSDMA 284110 broad.mit.edu 37 17 38122030 38122030 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr17:38122030C>T ENST00000301659.4 + 2 208 c.90C>T c.(88-90)ttC>ttT p.F30F NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 30 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 TCATCGACTTCAAGCGCTTCC 0.592000 8 15 0 0 1 0 0 KRT5 3852 broad.mit.edu 37 12 52910596 52910596 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr12:52910596C>T ENST00000252242.4 - 7 1654 c.1264G>A c.(1264-1266)Gag>Aag p.E422K NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 422 Coil 2.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) AGGGCCAGCTCCCCACGCTGC 0.617000 62 59 0 0 1 0 0 OR51A7 119687 broad.mit.edu 37 11 4929262 4929262 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr11:4929262G>A ENST00000359350.4 + 1 663 c.663G>A c.(661-663)ttG>ttA p.L221L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCTGATCTTGAAGACTATAC 0.458000 91 25 0 0 1 0 0 NOP14 8602 broad.mit.edu 37 4 2943920 2943920 + Splice_Site SNP G G C rs144256817 TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr4:2943920G>C ENST00000416614.2 - 14 2115 c.2051_splice c.e14+1 p.R684_splice NOP14_ENST00000502735.1_Splice_Site_p.R684_splice|NOP14_ENST00000314262.6_Splice_Site_p.R684_splice|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Splice_Site_p.R684_splice|NOP14-AS1_ENST00000515194.1_RNA P78316 NOP14_HUMAN NOP14 nucleolar protein 684 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 30 CTCACATACCGGATGTGATTG 0.602000 32 46 0 0 1 0 0 CAMKK2 10645 broad.mit.edu 37 12 121711907 121711907 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr12:121711907G>A ENST00000324774.5 - 2 1251 c.423C>T c.(421-423)ccC>ccT p.P141P CAMKK2_ENST00000404169.3_Silent_p.P141P|CAMKK2_ENST00000392474.2_Silent_p.P141P|CAMKK2_ENST00000412367.2_Silent_p.P141P|CAMKK2_ENST00000446440.2_Silent_p.P141P|CAMKK2_ENST00000347034.2_Silent_p.P141P|CAMKK2_ENST00000392473.2_Silent_p.P141P|CAMKK2_ENST00000337174.3_Silent_p.P141P|CAMKK2_ENST00000402834.4_Silent_p.P141P|CAMKK2_ENST00000538733.1_Silent_p.P141P|CAMKK2_ENST00000535524.1_5'UTR NM_006549.3 NP_006540.3 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase kinase 2, beta 141 calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCGGCCGCCGGGGCAGCCGAG 0.692000 6 6 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67148034 67148034 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:67148034G>A ENST00000371037.4 + 15 1374 c.1297G>A c.(1297-1299)Ggt>Agt p.G433S SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.G437S NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 433 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 CTCGGGCCCTGGTCCGGGGAC 0.592000 84 152 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6534165 6534165 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:6534165G>A ENST00000377748.1 - 8 1227 c.730C>T c.(730-732)Ctg>Ttg p.L244L PLEKHG5_ENST00000535355.1_Silent_p.L236L|PLEKHG5_ENST00000537245.1_Silent_p.L246L|PLEKHG5_ENST00000544978.1_Silent_p.L167L|PLEKHG5_ENST00000377737.2_Silent_p.L167L|PLEKHG5_ENST00000377732.1_Silent_p.L204L|PLEKHG5_ENST00000377740.3_Silent_p.L244L|PLEKHG5_ENST00000400913.1_Silent_p.L167L|PLEKHG5_ENST00000400915.3_Silent_p.L223L|PLEKHG5_ENST00000340850.5_Silent_p.L167L|PLEKHG5_ENST00000377725.1_Silent_p.L167L|PLEKHG5_ENST00000377728.3_Silent_p.L167L NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 223 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) GGCAAACTCAGGGACTTGGAG 0.662000 13 13 0 0 1 0 0 FGR 2268 broad.mit.edu 37 1 27941432 27941432 + Silent SNP A A G TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:27941432A>G ENST00000374005.3 - 10 1312 c.1024T>C c.(1024-1026)Ttg>Ctg p.L342L FGR_ENST00000374004.1_Silent_p.L342L|FGR_ENST00000399173.1_Silent_p.L342L|FGR_ENST00000545953.1_Silent_p.L276L NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 342 Protein kinase. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AAATCCAGCAAGCTGCCTGGG 0.637000 4 10 0 0 1 0 0 SLC5A11 115584 broad.mit.edu 37 16 24919327 24919327 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr16:24919327C>T ENST00000347898.3 + 13 1931 c.1309C>T c.(1309-1311)Cct>Tct p.P437S SLC5A11_ENST00000569071.1_Missense_Mutation_p.P281S|SLC5A11_ENST00000565769.1_Missense_Mutation_p.P373S|SLC5A11_ENST00000424767.2_Missense_Mutation_p.P402S|SLC5A11_ENST00000449109.2_Missense_Mutation_p.P281S|SLC5A11_ENST00000567758.1_Missense_Mutation_p.P402S|SLC5A11_ENST00000545376.1_Missense_Mutation_p.P367S|SLC5A11_ENST00000539472.1_Missense_Mutation_p.P373S|SLC5A11_ENST00000568579.1_Missense_Mutation_p.P367S NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 437 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) CCTCTGGATCCCTGTGGTCCA 0.577000 126 163 0 0 1 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030225 95030225 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr14:95030225G>A ENST00000557004.1 + 2 827 c.406G>A c.(406-408)Gaa>Aaa p.E136K SERPINA4_ENST00000555095.1_Missense_Mutation_p.E136K|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.E136K P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 136 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) CCATGGGCTGGAAACACGCGT 0.567000 57 28 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160963809 160963809 + Missense_Mutation SNP T T G TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr6:160963809T>G ENST00000447678.1 - 35 5550 c.5430A>C c.(5428-5430)caA>caC p.Q1810H LPA_ENST00000316300.5_Missense_Mutation_p.Q1810H|LPA_ENST00000484276.1_5'UTR NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4318 Kringle 16. 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) TCGGCTCCACTTGAGGCTTCC 0.498000 43 23 0 0 1 0 0 CAMKK2 10645 broad.mit.edu 37 12 121711906 121711906 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr12:121711906G>A ENST00000324774.5 - 2 1252 c.424C>T c.(424-426)Cgg>Tgg p.R142W CAMKK2_ENST00000404169.3_Missense_Mutation_p.R142W|CAMKK2_ENST00000392474.2_Missense_Mutation_p.R142W|CAMKK2_ENST00000412367.2_Missense_Mutation_p.R142W|CAMKK2_ENST00000446440.2_Missense_Mutation_p.R142W|CAMKK2_ENST00000347034.2_Missense_Mutation_p.R142W|CAMKK2_ENST00000392473.2_Missense_Mutation_p.R142W|CAMKK2_ENST00000337174.3_Missense_Mutation_p.R142W|CAMKK2_ENST00000402834.4_Missense_Mutation_p.R142W|CAMKK2_ENST00000538733.1_Missense_Mutation_p.R142W|CAMKK2_ENST00000535524.1_5'UTR NM_006549.3 NP_006540.3 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase kinase 2, beta 142 calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GTCGGCCGCCGGGGCAGCCGA 0.692000 6 6 0 0 1 0 0 OR52K2 119774 broad.mit.edu 37 11 4471362 4471362 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr11:4471362C>T ENST00000325719.4 + 1 838 c.793C>T c.(793-795)Cgt>Tgt p.R265C NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTCATGCACCGTGTAGCCCG 0.512000 124 46 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51411976 51411976 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr11:51411976G>A ENST00000319760.6 - 1 472 c.420C>T c.(418-420)ttC>ttT p.F140F NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) CCAACAGAAGGAAGCAAACCT 0.473000 41 88 0 0 1 0 0 DPPA3P2 400206 broad.mit.edu 37 14 36841161 36841161 + RNA SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr14:36841161C>T ENST00000557188.1 + 0 792 GAAAGCTACTCTATGCTAGTA 0.308000 25 24 0 0 1 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12943124 12943124 + Missense_Mutation SNP T T A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:12943124T>A ENST00000235349.5 - 2 162 c.92A>T c.(91-93)gAg>gTg p.E31V NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 31 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) GGGCAGCTCCTCCAGGGTGGA 0.597000 100 132 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126137126 126137126 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr12:126137126G>A ENST00000299308.3 + 8 2047 c.2039G>A c.(2038-2040)aGg>aAg p.R680K TMEM132B_ENST00000535886.1_Missense_Mutation_p.R192K NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 680 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) GCAGACAAAAGGGCCATCGTC 0.607000 27 48 0 0 1 0 0 XCR1 2829 broad.mit.edu 37 3 46062675 46062675 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr3:46062675G>A ENST00000309285.3 - 2 1121 c.765C>T c.(763-765)atC>atT p.I255I XCR1_ENST00000542109.1_Silent_p.I255I NM_001024644.1 NP_001019815.1 P46094 XCR1_HUMAN chemokine (C motif) receptor 1 255 chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) AGCTCCGGATGATCTGGGTCC 0.577000 32 39 0 0 1 0 0 APOL3 80833 broad.mit.edu 37 22 36538010 36538010 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr22:36538010C>T ENST00000397293.2 - 4 581 c.234G>A c.(232-234)agG>agA p.R78R APOL3_ENST00000349314.2_Silent_p.R149R|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000424878.2_5'UTR O95236 APOL3_HUMAN apolipoprotein L, 3 149 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity endometrium(2)|large_intestine(1)|lung(1)|stomach(1) 5 AAAACCATTCCCTAAACTGCT 0.453000 33 52 0 0 1 0 0 RBPMS2 348093 broad.mit.edu 37 15 65041212 65041212 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr15:65041212G>A ENST00000300069.4 - 5 672 c.405C>T c.(403-405)atC>atT p.I135I RBPMS2_ENST00000560606.1_Silent_p.I24I NM_194272.1 NP_919248.1 Q6ZRY4 RBPS2_HUMAN RNA binding protein with multiple splicing 2 135 nucleic acid binding|nucleotide binding breast(1)|large_intestine(3)|lung(3)|prostate(1) 8 GGTCCCGTGCGATGAAGTGTG 0.577000 22 63 0 0 1 0 0 TFEC 22797 broad.mit.edu 37 7 115582051 115582051 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr7:115582051C>T ENST00000265440.7 - 7 739 c.559G>A c.(559-561)Gag>Aag p.E187K TFEC_ENST00000457268.1_Missense_Mutation_p.E120K|TFEC_ENST00000393485.1_Missense_Mutation_p.E158K|TFEC_ENST00000484212.1_Missense_Mutation_p.E277K|TFEC_ENST00000320239.7_Missense_Mutation_p.E158K NM_012252.3 NP_036384.1 O14948 TFEC_HUMAN transcription factor EC 187 Helix-loop-helix motif. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) TTGATGTACTCCACTGATGCT 0.418000 119 93 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69034517 69034517 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:69034517G>A ENST00000295381.3 + 5 995 c.576G>A c.(574-576)cgG>cgA p.R192R ARHGAP25_ENST00000409220.1_Silent_p.R186R|ARHGAP25_ENST00000467265.1_Silent_p.R153R|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000544262.1_Silent_p.R167R|ARHGAP25_ENST00000409030.3_Silent_p.R185R|ARHGAP25_ENST00000409202.3_Silent_p.R193R|ARHGAP25_ENST00000497079.1_Silent_p.R186R NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 192 Rho-GAP. R -> W (in dbSNP:rs3749130). regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 AGCACGGCCGGAATGAAGAGG 0.572000 32 40 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544427 82544427 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr7:82544427G>A ENST00000423517.2 - 7 13212 c.12875C>T c.(12874-12876)tCc>tTc p.S4292F PCLO_ENST00000333891.8_Missense_Mutation_p.S4292F|PCLO_ENST00000437081.1_Missense_Mutation_p.S1012F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4223 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 aggtctggaggaaggtctgga 0.478000 7 25 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6080950 6080950 + Splice_Site SNP T T A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr18:6080950T>A ENST00000400104.3 - 16 1574 c.1373_splice c.e16-1 p.R458_splice L3MBTL4_ENST00000317931.7_Splice_Site_p.R458_splice|L3MBTL4_ENST00000400105.2_Splice_Site_p.R458_splice|L3MBTL4_ENST00000535782.1_Splice_Site_p.R271_splice|RP11-793A3.2_ENST00000577935.1_RNA|L3MBTL4_ENST00000284898.6_Splice_Site_p.R458_splice Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 458 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) GCTGTACAAGTCTGGGCAAAG 0.343000 7 3 0 0 1 0 0 C12orf68 387856 broad.mit.edu 37 12 48578083 48578083 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr12:48578083G>A ENST00000316554.3 + 1 718 c.178G>A c.(178-180)Gcc>Acc p.A60T NM_001013635.3 NP_001013657.3 Q52MB2 CL068_HUMAN chromosome 12 open reading frame 68 60 cytoplasm central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1) 4 GGACGTGAGGGCCATGAGGGG 0.627000 24 39 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42088290 42088290 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr7:42088290G>A ENST00000395925.3 - 5 563 c.479C>T c.(478-480)tCc>tTc p.S160F GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 160 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 AGATAAGGCGGAAGTCCTGGG 0.493000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 35 20 0 0 1 0 0 NPNT 255743 broad.mit.edu 37 4 106879638 106879638 + Silent SNP A A G TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr4:106879638A>G ENST00000379987.2 + 9 1386 c.1170A>G c.(1168-1170)caA>caG p.Q390Q NPNT_ENST00000305572.8_Intron|NPNT_ENST00000514622.1_Intron|NPNT_ENST00000506666.1_Intron|NPNT_ENST00000427316.2_Silent_p.Q420Q|NPNT_ENST00000453617.2_Silent_p.Q407Q NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 390 cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) TTCCACGGCAACCTTCAAATG 0.408000 14 32 0 0 1 0 0 EMID1 129080 broad.mit.edu 37 22 29629639 29629639 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr22:29629639G>A ENST00000334018.6 + 10 1138 c.950G>A c.(949-951)gGg>gAg p.G317E EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Missense_Mutation_p.G317E|EMID1_ENST00000404820.3_Missense_Mutation_p.G317E NM_001267895.1|NM_133455.3 NP_001254824.1|NP_597712.2 Q96A84 EMID1_HUMAN EMI domain containing 1 315 Collagen-like. collagen NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3) 12 GGTGTCCCTGGGAGTCCTGGT 0.522000 18 36 0 0 1 0 0 SUPT7L 9913 broad.mit.edu 37 2 27876388 27876388 + Missense_Mutation SNP G G T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:27876388G>T ENST00000337768.5 - 6 1778 c.1209C>A c.(1207-1209)ttC>ttA p.F403L SUPT7L_ENST00000464789.2_Missense_Mutation_p.F401L|SUPT7L_ENST00000406540.1_Missense_Mutation_p.F401L|SUPT7L_ENST00000405491.1_Missense_Mutation_p.F401L|SUPT7L_ENST00000404798.2_Missense_Mutation_p.F268L NM_014860.1 NP_055675.1 O94864 ST65G_HUMAN suppressor of Ty 7 (S. cerevisiae)-like 403 histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 16 Acute lymphoblastic leukemia(172;0.155) AGCGCTGGTTGAAAACAGGGG 0.478000 52 64 2.43468e-25 2.51103e-25 1 1 0 ABCB5 340273 broad.mit.edu 37 7 20738088 20738088 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr7:20738088C>T ENST00000404938.2 + 17 2721 c.2069C>T c.(2068-2070)cCt>cTt p.P690L ABCB5_ENST00000258738.6_Missense_Mutation_p.P245L NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 245 ABC transporter 2. 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 CCTGAATGGCCTTTTGTGGTT 0.318000 52 31 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42588380 42588380 + Missense_Mutation SNP C C A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr4:42588380C>A ENST00000381668.5 - 9 939 c.708G>T c.(706-708)agG>agT p.R236S ATP8A1_ENST00000264449.10_Missense_Mutation_p.R236S NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 236 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) GTCCATCAAGCCTTATGTTTC 0.373000 22 43 7.41877e-09 7.57226e-09 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb 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 86 49 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166187941 166187941 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:166187941C>T ENST00000375437.2 + 14 2541 c.2251C>T c.(2251-2253)Ctt>Ttt p.L751F SCN2A_ENST00000357398.3_Missense_Mutation_p.L751F|SCN2A_ENST00000283256.6_Missense_Mutation_p.L751F|SCN2A_ENST00000375427.2_Missense_Mutation_p.L751F NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 751 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GGTGAAACACCTTGTCAACCT 0.418000 46 66 0 0 1 0 0 PTPRN 5798 broad.mit.edu 37 2 220155602 220155602 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:220155602C>T ENST00000295718.2 - 21 2980 c.2740G>A c.(2740-2742)Ggg>Agg p.G914R PTPRN_ENST00000497977.1_5'UTR|PTPRN_ENST00000409251.3_Missense_Mutation_p.G885R|PTPRN_ENST00000423636.2_Missense_Mutation_p.G824R NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 914 Substrate binding (By similarity).|Tyrosine-protein phosphatase. response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) CCGGTCCTCCCCGCACCATCA 0.612000 31 37 0 0 1 0 0 PSMD6 9861 broad.mit.edu 37 3 64008022 64008022 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr3:64008022G>A ENST00000492933.1 - 3 534 c.482C>T c.(481-483)gCc>gTc p.A161V PSMD6_ENST00000295901.4_Missense_Mutation_p.A108V|PSMD6_ENST00000394431.2_Missense_Mutation_p.A70V|PSMD6_ENST00000482510.1_Missense_Mutation_p.A69V NM_001271779.1 NP_001258708.1 Q15008 PSMD6_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 108 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 proteasome complex ATPase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1) 13 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212) GAGGTACTCGGCCTTTGCCAT 0.448000 53 96 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54804556 54804556 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr6:54804556G>A ENST00000306858.7 + 5 903 c.787G>A c.(787-789)Gga>Aga p.G263R NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 263 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) GATAATTACAGGACAACTTGT 0.363000 29 47 0 0 1 0 0 EDA 1896 broad.mit.edu 37 X 69255255 69255255 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chrX:69255255G>A ENST00000374552.4 + 8 1214 c.972G>A c.(970-972)gtG>gtA p.V324V EDA_ENST00000524573.1_Silent_p.V319V|EDA_ENST00000374553.2_Silent_p.V322V NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A 324 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 AGGTGGTGGTGGATGAGAAGC 0.552000 17 8 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110986181 110986181 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr8:110986181C>T ENST00000524391.1 - 2 1469 c.437G>A c.(436-438)aGc>aAc p.S146N KCNV1_ENST00000297404.1_Missense_Mutation_p.S146N|RP11-696P8.2_ENST00000530667.1_RNA Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 146 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GGAATCGATGCTGAGCTCATC 0.647000 7 17 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10440701 10440701 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr17:10440701C>T ENST00000245503.5 - 16 2130 c.1746G>A c.(1744-1746)ctG>ctA p.L582L MYH2_ENST00000397183.2_Silent_p.L582L|MYH2_ENST00000532183.1_Silent_p.L582L|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 582 Myosin head-like. 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 CATAGTGAATCAGAGCGAAGT 0.537000 82 119 0 0 1 0 0 LGI3 203190 broad.mit.edu 37 8 22013918 22013918 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr8:22013918G>A ENST00000306317.2 - 1 427 c.138C>T c.(136-138)acC>acT p.T46T LGI3_ENST00000424267.2_Silent_p.T46T NM_139278.2 NP_644807.1 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 46 LRRNT. exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 17 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) CGGTGTCCCTGGTGCAAGAGC 0.682000 7 1 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63511054 63511054 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr18:63511054G>A ENST00000536984.2 + 7 1682 c.988G>A c.(988-990)Gat>Aat p.D330N CDH7_ENST00000323011.3_Missense_Mutation_p.D330N|CDH7_ENST00000397968.2_Missense_Mutation_p.D330N Q9ULB5 CADH7_HUMAN cadherin 7, type 2 330 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) ACAGGAGCTGGATTTTGAAGC 0.423000 34 58 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248039236 248039236 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:248039236G>A ENST00000366481.3 + 6 954 c.906G>A c.(904-906)ccG>ccA p.P302P OR2W3_ENST00000537741.1_5'UTR NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 302 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CGGCGCACCCGAGTCTGCTCT 0.562000 23 48 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105932271 105932271 + Missense_Mutation SNP T T A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr10:105932271T>A ENST00000357060.3 - 20 2598 c.2483A>T c.(2482-2484)aAt>aTt p.N828I WDR96_ENST00000278064.2_Missense_Mutation_p.N759I|WDR96_ENST00000428666.1_Missense_Mutation_p.N829I NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 828 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TAGTTTGTCATTTTCTTCCAT 0.313000 16 7 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18777008 18777008 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr9:18777008C>T ENST00000380548.4 + 19 3120 c.2781C>T c.(2779-2781)gcC>gcT p.A927A NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 927 Ig-like C2-type 1. 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) TCACGGTGGCCCCCTTCGGCT 0.667000 29 5 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58578217 58578217 + Nonsense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr19:58578217G>A ENST00000506786.1 + 5 793 c.239G>A c.(238-240)tGg>tAg p.W80* ZNF135_ENST00000401053.4_Nonsense_Mutation_p.W146*|ZNF135_ENST00000359978.6_Nonsense_Mutation_p.W134*|ZNF135_ENST00000439855.2_Nonsense_Mutation_p.W122*|ZNF135_ENST00000313434.5_Nonsense_Mutation_p.W122*|ZNF135_ENST00000511556.1_Nonsense_Mutation_p.W134* B4DHH9 B4DHH9_HUMAN zinc finger protein 135 134 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) GATGGTCTGTGGTACTGCAGG 0.517000 30 48 0 0 1 0 0 LOXL3 84695 broad.mit.edu 37 2 74763985 74763985 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:74763985G>A ENST00000264094.3 - 5 834 c.763C>T c.(763-765)Ctc>Ttc p.L255F LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.L255F|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000409249.1_Missense_Mutation_p.L255F NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 255 SRCR 2. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 CAGAGGGAGAGGTGGGCCTCC 0.657000 36 66 0 0 1 0 0 ABAT 18 broad.mit.edu 37 16 8829585 8829585 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr16:8829585C>T ENST00000567812.1 + 2 296 c.34C>T c.(34-36)Cct>Tct p.P12S ABAT_ENST00000396600.2_5'UTR|ABAT_ENST00000268251.8_5'UTR|ABAT_ENST00000425191.2_5'UTR|ABAT_ENST00000569156.1_5'UTR P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 0 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) TGTCCCTGTCCCTCAAGGGGT 0.617000 7 5 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46652877 46652877 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr22:46652877C>T ENST00000253255.5 - 1 6342 c.6343G>A c.(6343-6345)Gaa>Aaa p.E2115K NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 2115 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) TAGTTCCATTCATGCTGACCA 0.443000 28 43 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73843167 73843167 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr6:73843167G>A ENST00000342056.2 + 11 1726 c.1328G>A c.(1327-1329)cGa>cAa p.R443Q KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R424Q|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R424Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R434Q|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R415Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R425Q NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 424 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TTTAAGGAGCGAGTGCGCATG 0.502000 35 37 0 0 1 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900152 151900152 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chrX:151900152G>A ENST00000393900.3 - 3 1002 c.649C>T c.(649-651)Cct>Tct p.P217S MAGEA12_ENST00000357916.4_Missense_Mutation_p.P217S|MAGEA12_ENST00000393869.3_Missense_Mutation_p.P217S|CSAG4_ENST00000361201.4_RNA NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 217 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TTCTCCTCAGGGGCACAGTCG 0.562000 134 51 0 0 1 0 0 ZNF169 169841 broad.mit.edu 37 9 97062125 97062125 + Silent SNP T T C TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr9:97062125T>C ENST00000395395.2 + 5 375 c.285T>C c.(283-285)ttT>ttC p.F95F ZNF169_ENST00000340911.4_3'UTR NM_194320.2 NP_919301.2 Q14929 ZN169_HUMAN zinc finger protein 169 95 FQPSFPHLV -> IPAKFSPPG (in Ref. 5; AAA70188). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(62;0.136) AGCCAAGTTTTCCCCACCTGG 0.507000 66 15 0 0 1 0 0 FOLR3 2352 broad.mit.edu 37 11 71850855 71850855 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr11:71850855C>T ENST00000445078.2 + 5 909 c.838C>T c.(838-840)Cgt>Tgt p.R280C FOLR3_ENST00000456237.1_Missense_Mutation_p.R282C|FOLR3_ENST00000442948.2_Missense_Mutation_p.R239C P41439 FOLR3_HUMAN folate receptor 3 (gamma) 238 folic acid transport extracellular region|extrinsic to membrane|membrane fraction folic acid binding|receptor activity large_intestine(3)|lung(8)|prostate(2) 13 Folic Acid(DB00158) GGCCCCGTCTCGTGGGATTAT 0.517000 35 21 0 0 1 0 0 HGSNAT 138050 broad.mit.edu 37 8 43054595 43054595 + Missense_Mutation SNP G G C TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr8:43054595G>C ENST00000458501.2 + 18 1875 c.1875G>C c.(1873-1875)tgG>tgC p.W625C HGSNAT_ENST00000521576.1_Missense_Mutation_p.W314C|HGSNAT_ENST00000379644.4_Missense_Mutation_p.W597C|HGSNAT_ENST00000297798.7_Missense_Mutation_p.W329C Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 625 Lysosomal targeting region. lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity cervix(1)|endometrium(2)|large_intestine(4)|lung(6) 13 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) CCTTTCAGTGGAAGCTGAAGG 0.478000 12 26 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43585288 43585288 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr19:43585288G>A ENST00000406487.1 - 2 273 c.175C>T c.(175-177)Ccc>Tcc p.P59S NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 59 Ig-like V-type. cell migration|female pregnancy extracellular region p.P59A(2) 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) AGATTCTGGGGCAAATTGTGG 0.448000 101 137 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720248 140720248 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr5:140720248C>T ENST00000394576.2 + 1 1710 c.1710C>T c.(1708-1710)gaC>gaT p.D570D PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCCACAGACGGTTCCACTG 0.642000 116 135 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189901529 189901529 + Splice_Site SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:189901529C>T ENST00000374866.3 - 52 4200 c.3925_splice c.e52-1 p.G1309_splice NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1309 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCAGTATTCACCTATTTTTCA 0.328000 14 8 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248039696 248039696 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:248039696C>T ENST00000366481.3 + 6 1414 c.1366C>T c.(1366-1368)Ctt>Ttt p.L456F OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 456 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGCAACTCCTCTTATCTTGCC 0.408000 115 65 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21015405 21015405 + Missense_Mutation SNP C C T rs143565471 TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr12:21015405C>T ENST00000381545.3 + 7 760 c.541C>T c.(541-543)Cgt>Tgt p.R181C LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.R181C|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.R181C|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.R181C NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 181 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) GAATATGCTTCGTGGCATAGG 0.378000 34 91 0 0 1 0 0 C16orf70 80262 broad.mit.edu 37 16 67168328 67168328 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr16:67168328G>A ENST00000219139.3 + 8 807 c.619G>A c.(619-621)Gga>Aga p.G207R C16orf70_ENST00000569600.1_Missense_Mutation_p.G207R|C16orf70_ENST00000569683.1_3'UTR NM_025187.3 NP_079463.2 Q9BSU1 CP070_HUMAN chromosome 16 open reading frame 70 207 cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) TCTTCGAGATGGAACTGGACC 0.512000 129 211 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12940065 12940065 + Missense_Mutation SNP A A T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chrX:12940065A>T ENST00000218032.6 + 2 2993 c.2906A>T c.(2905-2907)gAt>gTt p.D969V TLR8_ENST00000311912.5_Missense_Mutation_p.D987V NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 969 TIR. cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 AGGCTAATGGATGAGAACATG 0.393000 59 22 0 0 1 0 0 MYEOV 26579 broad.mit.edu 37 11 69063347 69063347 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr11:69063347C>T ENST00000535407.1 + 2 899 c.256C>T c.(256-258)Ctg>Ttg p.L86L MYEOV_ENST00000308946.3_Silent_p.L144L|MYEOV_ENST00000441339.2_Silent_p.L144L Q96EZ4 MYEOV_HUMAN myeloma overexpressed 144 endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1) 24 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) ACAAGGCACTCTGTGTGGCAC 0.622000 94 203 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152188039 152188039 + Silent SNP T T A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:152188039T>A ENST00000368801.2 - 3 6141 c.6066A>T c.(6064-6066)gcA>gcT p.A2022A FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2022 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) ACTGTCCTGATGCAGAACCAT 0.552000 434 2033 0 0 1 0 0 WDR3 10885 broad.mit.edu 37 1 118479464 118479464 + Missense_Mutation SNP A A T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:118479464A>T ENST00000349139.4 + 4 501 c.454A>T c.(454-456)Atc>Ttc p.I152F WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 152 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) CAAGGATGCCATCACACAAGC 0.363000 38 56 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141773269 141773269 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:141773269C>T ENST00000389484.3 - 13 3157 c.2186G>A c.(2185-2187)aGg>aAg p.R729K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 729 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) TTTTACCTTCCTGTGAGTCCC 0.358000 TSP Lung(27;0.18) 14 24 0 0 1 0 0 PDE8B 8622 broad.mit.edu 37 5 76649203 76649203 + Missense_Mutation SNP T T C TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr5:76649203T>C ENST00000264917.5 + 10 1184 c.1139T>C c.(1138-1140)cTg>cCg p.L380P PDE8B_ENST00000340978.3_Missense_Mutation_p.L333P|PDE8B_ENST00000342343.4_Missense_Mutation_p.L360P|PDE8B_ENST00000333194.4_Missense_Mutation_p.L380P|PDE8B_ENST00000346042.3_Intron NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 380 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) CTCAAGAAACTGTGTTGTACC 0.368000 26 37 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52412278 52412278 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr8:52412278G>A ENST00000356297.4 - 5 533 c.433C>T c.(433-435)Ctt>Ttt p.L145F PXDNL_ENST00000543296.1_Missense_Mutation_p.L145F NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 145 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) AATCTCAGAAGGTCTCCAAAG 0.418000 53 99 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42105899 42105899 + Missense_Mutation SNP C C G TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr15:42105899C>G ENST00000457542.2 + 9 1186 c.900C>G c.(898-900)aaC>aaG p.N300K MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.N188K|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.N306K|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.N300K NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 306 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GCCTTTTCAACCCCTCTAACC 0.602000 67 175 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64604591 64604591 + Silent SNP T T C TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr14:64604591T>C ENST00000357395.3 + 80 15032 c.3888T>C c.(3886-3888)tgT>tgC p.C1296C SYNE2_ENST00000358025.3_Silent_p.C4911C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.C1296C|SYNE2_ENST00000554584.1_Silent_p.C4828C|SYNE2_ENST00000344113.4_Silent_p.C4911C|SYNE2_ENST00000555002.1_Silent_p.C1545C Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4911 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTGTGAGCTGTCCTGAATTAG 0.458000 36 18 0 0 1 0 0 MYRIP 25924 broad.mit.edu 37 3 40231956 40231956 + Splice_Site SNP T T C TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr3:40231956T>C ENST00000302541.6 + 10 2007 c.e10+2 MYRIP_ENST00000539167.1_Splice_Site|MYRIP_ENST00000396217.3_Splice_Site|MYRIP_ENST00000444716.1_Splice_Site|MYRIP_ENST00000425621.1_Splice_Site|MYRIP_ENST00000459828.1_Splice_Site NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) ACACATCAGGTAATGGAAGTG 0.557000 20 24 0 0 1 0 0 SLC7A3 84889 broad.mit.edu 37 X 70146006 70146006 + Missense_Mutation SNP G G T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chrX:70146006G>T ENST00000374299.3 - 11 1787 c.1643C>A c.(1642-1644)cCa>cAa p.P548Q SLC7A3_ENST00000298085.4_Missense_Mutation_p.P548Q Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 548 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) GCTCATTAGTGGGAGGAGAGG 0.453000 3 18 0.004672 0.00471984 1 1 0 PLCZ1 89869 broad.mit.edu 37 12 18889205 18889205 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr12:18889205C>T ENST00000266505.7 - 3 348 c.85G>A c.(85-87)Gaa>Aaa p.E29K RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Missense_Mutation_p.E27K|PLCZ1_ENST00000539875.1_Missense_Mutation_p.E29K|PLCZ1_ENST00000447925.2_Missense_Mutation_p.E27K Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 29 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) TCTAATTTTTCAAGTAACCTC 0.353000 19 17 0 0 1 0 0 CNNM4 26504 broad.mit.edu 37 2 97427614 97427614 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:97427614G>A ENST00000377075.2 + 1 976 c.878G>A c.(877-879)cGa>cAa p.R293Q NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 293 DUF21. biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 CTGTGCTCCCGACATGGGCTG 0.552000 46 85 0 0 1 0 0 WDR19 57728 broad.mit.edu 37 4 39278649 39278649 + Silent SNP T T C TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr4:39278649T>C ENST00000399820.3 + 34 3880 c.3726T>C c.(3724-3726)gaT>gaC p.D1242D WDR19_ENST00000288634.7_Silent_p.D1082D NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 1242 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 GGAGACCCGATATATCTGAGA 0.428000 8 156 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28775809 28775809 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:28775809G>A ENST00000422425.2 + 17 1175 c.1131G>A c.(1129-1131)gcG>gcA p.A377A PLB1_ENST00000327757.5_Silent_p.A366A|PLB1_ENST00000329020.6_Silent_p.A54A NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 366 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) GAGAAGGAGCGGAAATCAGAT 0.443000 17 105 0 0 1 0 0 ALDH3A1 218 broad.mit.edu 37 17 19644444 19644444 + Nonsense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr17:19644444G>A ENST00000457500.2 - 5 1098 c.769C>T c.(769-771)Cag>Tag p.Q257* ALDH3A1_ENST00000494157.2_Nonsense_Mutation_p.Q184*|ALDH3A1_ENST00000225740.6_Nonsense_Mutation_p.Q257*|ALDH3A1_ENST00000395555.3_Nonsense_Mutation_p.Q257*|ALDH3A1_ENST00000444455.1_Nonsense_Mutation_p.Q257* NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 257 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) ATTTGGTTCTGGATCGAGGGG 0.567000 26 43 0 0 1 0 0 OR8J1 219477 broad.mit.edu 37 11 56128352 56128352 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr11:56128352C>T ENST00000303039.3 + 1 662 c.630C>T c.(628-630)tcC>tcT p.S210S NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) TGGTTGGTTCCTTGATTATAG 0.323000 46 64 0 0 1 0 0 GSDMA 284110 broad.mit.edu 37 17 38131251 38131251 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr17:38131251C>T ENST00000301659.4 + 10 1123 c.1005C>T c.(1003-1005)ttC>ttT p.F335F NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 335 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 TCCTCTATTTCGTTGGAGCCC 0.458000 10 9 0 0 1 0 0 SBSPON 157869 broad.mit.edu 37 8 73993254 73993254 + Splice_Site SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr8:73993254C>T ENST00000297354.6 - 2 613 c.409_splice c.e2+1 p.V137_splice SBSPON_ENST00000519697.1_5'UTR NM_153225.3 NP_694957.3 Q8IVN8 RPESP_HUMAN somatomedin B and thrombospondin, type 1 domain containing 137 immune response extracellular region polysaccharide binding|scavenger receptor activity ACATCAGTACCATAGGTGTGC 0.572000 64 111 0 0 1 0 0 MSH3 4437 broad.mit.edu 37 5 79968679 79968679 + Splice_Site SNP T T A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr5:79968679T>A ENST00000265081.6 + 6 1107 c.e6+2 NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TTGGAGAAGATATCCTTTTTG 0.378000 Mismatch excision repair (MMR) 34 73 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2559848 2559848 + Nonsense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr20:2559848G>A ENST00000358864.1 + 6 717 c.702G>A c.(700-702)tgG>tgA p.W234* NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 234 Arg/Asp/Glu/Lys-rich (highly charged). integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 GTATCCCCTGGGAAATGAAGA 0.368000 21 39 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55542491 55542491 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr8:55542491G>A ENST00000220676.1 + 4 6197 c.6049G>A c.(6049-6051)Gaa>Aaa p.E2017K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 2017 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) GGGGTTAGAGGAAGAAGGTAA 0.313000 36 54 0 0 1 0 0 TTI1 9675 broad.mit.edu 37 20 36641212 36641212 + Nonsense_Mutation SNP A A T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr20:36641212A>T ENST00000373448.2 - 3 1245 c.1007T>A c.(1006-1008)tTa>tAa p.L336* TTI1_ENST00000373447.3_Nonsense_Mutation_p.L336*|TTI1_ENST00000449821.1_Nonsense_Mutation_p.L336*|TTI1_ENST00000487362.1_Intron NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 336 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 TAGTCCCACTAAGGCCTTCAG 0.463000 70 139 0 0 1 0 0 MCF2L 23263 broad.mit.edu 37 13 113744028 113744028 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr13:113744028C>T ENST00000397030.1 + 26 3075 c.3038C>T c.(3037-3039)cCc>cTc p.P1013L MCF2L_ENST00000375604.2_Missense_Mutation_p.P1037L|MCF2L_ENST00000375597.4_Missense_Mutation_p.P978L|MCF2L_ENST00000423482.2_Missense_Mutation_p.P978L|MCF2L_ENST00000375601.3_Missense_Mutation_p.P984L|MCF2L_ENST00000442652.2_Missense_Mutation_p.P1010L|MCF2L_ENST00000535094.2_Missense_Mutation_p.P980L|MCF2L_ENST00000375608.3_Missense_Mutation_p.P1010L|MCF2L_ENST00000421756.1_Missense_Mutation_p.P984L|MCF2L_ENST00000434480.2_Missense_Mutation_p.P986L O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 1010 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) ACAAAGCCCCCCGAAAAGGGC 0.577000 22 56 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119976856 119976856 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr9:119976856C>T ENST00000313400.4 - 3 896 c.796G>A c.(796-798)Gag>Aag p.E266K ASTN2_ENST00000361209.2_Missense_Mutation_p.E266K|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.E266K O75129 ASTN2_HUMAN astrotactin 2 266 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 CGGAAGCTCTCCCGCGCCTGG 0.592000 53 13 0 0 1 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182909649 182909649 + Silent SNP T T G TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:182909649T>G ENST00000367547.3 - 3 821 c.585A>C c.(583-585)tcA>tcC p.S195S SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Silent_p.S76S NM_030933.2 NP_112195.2 Q9BZQ2 SHP1L_HUMAN SHC SH2-domain binding protein 1-like 267 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 TGAAACGAGATGATGAGTCTT 0.348000 17 41 0 0 1 0 0 SLFN11 91607 broad.mit.edu 37 17 33690465 33690465 + Missense_Mutation SNP A A T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr17:33690465A>T ENST00000394566.1 - 4 634 c.362T>A c.(361-363)gTc>gAc p.V121D SLFN11_ENST00000308377.4_Missense_Mutation_p.V121D 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 11 121 V -> F (in dbSNP:rs12453150). 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) GCGGGGCTTGACAGAGCGATC 0.473000 40 73 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158587365 158587365 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:158587365C>T ENST00000368148.3 - 47 6742 c.6562G>A c.(6562-6564)Gaa>Aaa p.E2188K SPTA1_ENST00000368147.3_Missense_Mutation_p.E2185K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2188 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 p.E2188K(1) 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) GTTCCTGTTTCTTTGAGCAAT 0.338000 12 32 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146620 70146620 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr4:70146620G>A ENST00000335568.5 + 1 404 c.402G>A c.(400-402)aaG>aaA p.K134K UGT2B28_ENST00000511240.1_Silent_p.K134K NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 134 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.K134N(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) TTTCAAATAAGAAAGTTATGA 0.328000 64 13 0 0 1 0 0 RAD51D 5892 broad.mit.edu 37 17 33433426 33433426 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr17:33433426G>A ENST00000345365.6 - 6 810 c.555C>T c.(553-555)ctC>ctT p.L185L RAD51D_ENST00000394589.4_Silent_p.L185L|RAD51D_ENST00000335858.7_Silent_p.L73L|RAD51D_ENST00000590016.1_Silent_p.L205L|RAD51L3-RFFL_ENST00000593039.1_Silent_p.L26L|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000360276.3_Silent_p.L140L|RAD51D_ENST00000460118.2_Silent_p.L66L NM_002878.3 NP_002869.3 O75771 RA51D_HUMAN RAD51 paralog D 185 DNA repair|reciprocal meiotic recombination nucleus ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 CAGTGCCTCGGAGCTCCTGCA 0.547000 Direct reversal of damage 7 18 0 0 1 0 0 EPN3 55040 broad.mit.edu 37 17 48614415 48614415 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr17:48614415G>A ENST00000268933.3 + 2 1077 c.498G>A c.(496-498)ctG>ctA p.L166L EPN3_ENST00000537145.1_Silent_p.L221L|EPN3_ENST00000541226.1_Silent_p.L110L NM_017957.2 NP_060427.2 Q9H201 EPN3_HUMAN epsin 3 166 clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) GTGGGCAGCTGGGCTTCAGCC 0.672000 6 9 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167163561 167163561 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:167163561C>T ENST00000303354.6 - 3 622 c.282G>A c.(280-282)ggG>ggA p.G94G SCN9A_ENST00000409672.1_Silent_p.G94G|SCN9A_ENST00000409435.1_Silent_p.G94G|SCN9A_ENST00000375387.4_Silent_p.G94G Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 94 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) AGATTGTTTTCCCTTTGTTCA 0.328000 10 23 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540522 169540522 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr3:169540522G>A ENST00000340806.6 + 1 813 c.813G>A c.(811-813)aaG>aaA p.K271K NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 271 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 GCCTGGAGAAGGTGCCACGCC 0.612000 19 34 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49030703 49030703 + Missense_Mutation SNP T T C TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr15:49030703T>C ENST00000380950.2 - 27 5063 c.4876A>G c.(4876-4878)Att>Gtt p.I1626V CEP152_ENST00000399334.3_Missense_Mutation_p.I1570V NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 1570 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GTTTGACAAATCATATTACTT 0.398000 84 98 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94547420 94547420 + Splice_Site SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr4:94547420G>A ENST00000282020.4 + 14 2452 c.2193_splice c.e14-1 p.V732_splice GRID2_ENST00000510992.1_Splice_Site_p.V637_splice NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 732 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TTTTTCACAGGTAAAATATGG 0.303000 26 40 0 0 1 0 0 TACC3 10460 broad.mit.edu 37 4 1725500 1725500 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr4:1725500C>T ENST00000313288.4 + 3 314 c.208C>T c.(208-210)Cta>Tta p.L70L NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 70 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) GCACAGGATTCTAAGTCCTAG 0.507000 29 52 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283661 152283661 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:152283661C>T ENST00000368799.1 - 3 3736 c.3701G>A c.(3700-3702)gGg>gAg p.G1234E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1234 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) GTGACGTGACCCTGAGTGCCT 0.567000 Ichthyosis 173 477 0 0 1 0 0 NUAK1 9891 broad.mit.edu 37 12 106480601 106480601 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr12:106480601C>T ENST00000261402.2 - 3 1803 c.424G>A c.(424-426)Gat>Aat p.D142N NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 142 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 CTGATGTAATCGTACAGCTCC 0.502000 29 52 0 0 1 0 0 TBCCD1 55171 broad.mit.edu 37 3 186274415 186274415 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr3:186274415G>A ENST00000424280.1 - 4 1121 c.642C>T c.(640-642)ttC>ttT p.F214F TBCCD1_ENST00000446782.1_Silent_p.F118F|TBCCD1_ENST00000338733.5_Silent_p.F214F NM_001134415.1 NP_001127887.1 Q9NVR7 TBCC1_HUMAN TBCC domain containing 1 214 cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape spindle pole centrosome binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1) 17 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.3e-21) GBM - Glioblastoma multiforme(93;0.0474) CTTCAATAAGGAAGCTGAGCG 0.443000 48 41 0 0 1 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900153 151900153 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chrX:151900153G>A ENST00000393900.3 - 3 1001 c.648C>T c.(646-648)gcC>gcT p.A216A MAGEA12_ENST00000357916.4_Silent_p.A216A|MAGEA12_ENST00000393869.3_Silent_p.A216A|CSAG4_ENST00000361201.4_RNA NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 216 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TCTCCTCAGGGGCACAGTCGC 0.567000 133 53 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196227479 196227479 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:196227479C>T ENST00000367433.5 - 25 3085 c.2984G>A c.(2983-2985)cGa>cAa p.R995Q KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.R953Q|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.R1019Q Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1019 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity p.R1019Q(1) 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 GCTCAGTCTTCGGGCCCACTG 0.512000 56 49 0 0 1 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6083420 6083420 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr4:6083420C>T ENST00000409021.3 - 6 1466 c.1017G>A c.(1015-1017)atG>atA p.M339I JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.M174I|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.M174I|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.M339I|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.M339I NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 339 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCTTCTTGTTCATCCGCTTGT 0.517000 41 57 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38016291 38016291 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr4:38016291C>T ENST00000261439.4 + 3 934 c.579C>T c.(577-579)atC>atT p.I193I TBC1D1_ENST00000508802.1_Silent_p.I193I NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 193 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CGGCCCTGATCGACGAGTGCA 0.672000 51 95 0 0 1 0 0 MIRLET7E 406887 broad.mit.edu 37 19 52196094 52196094 + RNA SNP T T C TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr19:52196094T>C ENST00000602324.1 - 0 615 MIRLET7E_ENST00000362102.1_RNA NR_029482.1|NR_029693.1 GAGATCACTATACGGCCTCCT 0.682000 21 24 0 0 1 0 0 ABRA 137735 broad.mit.edu 37 8 107773620 107773620 + Missense_Mutation SNP G G T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr8:107773620G>T ENST00000311955.3 - 2 845 c.791C>A c.(790-792)cCt>cAt p.P264H NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 264 Interaction with actin (By similarity). positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) TTCACTGAAAGGATTGAGCTT 0.502000 37 65 3.21399e-22 3.30327e-22 1 1 0 MAPKAPK2 9261 broad.mit.edu 37 1 206902119 206902119 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:206902119C>T ENST00000367103.3 + 2 537 c.344C>T c.(343-345)cCg>cTg p.P115L MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.P115L NM_004759.4|NM_032960.3 NP_004750.1|NP_116584.2 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated protein kinase 2 115 Protein kinase. activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 19 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) TCCCAGTGCCCGCACATCGTA 0.587000 37 30 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8595349 8595349 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr19:8595349C>T ENST00000338257.8 - 20 2419 c.2152G>A c.(2152-2154)Gag>Aag p.E718K NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 718 IQ. 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 TCACCTTCCTCCCGCATCTCC 0.652000 83 155 0 0 1 0 0 CALCRL 10203 broad.mit.edu 37 2 188250306 188250306 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:188250306G>A ENST00000409998.1 - 5 798 c.17C>T c.(16-18)aCc>aTc p.T6I CALCRL_ENST00000392370.3_Missense_Mutation_p.T6I|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.T6I Q16602 CALRL_HUMAN calcitonin receptor-like 6 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) AAAATTCAGGGTACACTTTTT 0.259000 12 32 0 0 1 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171766218 171766218 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr5:171766218G>A ENST00000311601.5 - 13 2061 c.1891C>T c.(1891-1893)Ccc>Tcc p.P631S SH3PXD2B_ENST00000519643.1_Intron NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 631 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGATTCTGGGGAGTGGCATCT 0.562000 41 53 0 0 1 0 0 LGI3 203190 broad.mit.edu 37 8 22013919 22013919 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr8:22013919G>A ENST00000306317.2 - 1 426 c.137C>T c.(136-138)aCc>aTc p.T46I LGI3_ENST00000424267.2_Missense_Mutation_p.T46I NM_139278.2 NP_644807.1 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 46 LRRNT. exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 17 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) GGTGTCCCTGGTGCAAGAGCA 0.682000 7 1 0 0 1 0 0 COL26A1 136227 broad.mit.edu 37 7 101190505 101190505 + RNA SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr7:101190505C>T ENST00000313669.7 + 0 1117 COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 ACCCCGGGGTCCCCCTGGTCC 0.667000 11 5 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26359273 26359273 + Silent SNP T T G TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr10:26359273T>G ENST00000265944.5 + 14 1468 c.1302T>G c.(1300-1302)ggT>ggG p.G434G MYO3A_ENST00000543632.1_Silent_p.G434G NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 434 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GAGAAAGTGGTGCTGGAAAGA 0.338000 23 10 0 0 1 0 0 CD2BP2 10421 broad.mit.edu 37 16 30365005 30365005 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr16:30365005G>A ENST00000305596.3 - 5 667 c.492C>T c.(490-492)ctC>ctT p.L164L CD2BP2_ENST00000569466.1_Silent_p.L164L NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 164 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 TAGGCAATAGGAGCTCCAAAA 0.647000 11 30 0 0 1 0 0 CNTROB 116840 broad.mit.edu 37 17 7851537 7851537 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr17:7851537C>T ENST00000380262.3 + 16 3197 c.2272C>T c.(2272-2274)Cac>Tac p.H758Y CNTROB_ENST00000563694.1_Missense_Mutation_p.H758Y|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Missense_Mutation_p.H758Y NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 758 Pro-rich.|Required for centrosome localization. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) ACCGCCTGTCCACAAAACCAA 0.552000 43 89 0 0 1 0 0 C2orf57 165100 broad.mit.edu 37 2 232458755 232458755 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:232458755G>A ENST00000313965.2 + 1 1181 c.1093G>A c.(1093-1095)Gag>Aag p.E365K NM_152614.2 NP_689827.2 Q53QW1 CB057_HUMAN chromosome 2 open reading frame 57 365 endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 19 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) GGAGACAGTGGAGCAGAGGAC 0.662000 34 42 0 0 1 0 0 SNX24 28966 broad.mit.edu 37 5 122343409 122343409 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr5:122343409C>T ENST00000261369.4 + 7 660 c.475C>T c.(475-477)Cat>Tat p.H159Y SNX24_ENST00000513881.1_3'UTR|SNX24_ENST00000395451.4_Missense_Mutation_p.H192Y NM_014035.2 NP_054754.1 Q9Y343 SNX24_HUMAN sorting nexin 24 159 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding lung(5) 5 Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139) AGGAGTCCTCCATGGGATATT 0.328000 61 105 0 0 1 0 0 APBB1IP 54518 broad.mit.edu 37 10 26849096 26849096 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr10:26849096C>T ENST00000376236.4 + 12 1673 c.1218C>T c.(1216-1218)acC>acT p.T406T NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 406 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 ACACAAGAACCCTTAACCAGT 0.483000 41 19 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999719 45999719 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr21:45999719G>A ENST00000400372.1 - 1 762 c.737C>T c.(736-738)tCc>tTc p.S246F TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 246 22 X 5 AA repeats of C-C-X(3). keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 GGCCTGGTAGGAGGAGGCAGG 0.721000 48 89 0 0 1 0 0 ISOC2 79763 broad.mit.edu 37 19 55966692 55966692 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr19:55966692C>T ENST00000438389.2 - 3 978 c.144G>A c.(142-144)acG>acA p.T48T ISOC2_ENST00000085068.3_Silent_p.T134T|ISOC2_ENST00000425675.2_Silent_p.T118T NM_001136202.1 NP_001129674.1 Q96AB3 ISOC2_HUMAN isochorismatase domain containing 2 118 protein destabilization mitochondrion|nucleus catalytic activity|protein binding endometrium(1)|lung(4)|ovary(1)|stomach(1) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0535) GGTCCAGGGTCGTGTTCTGTG 0.632000 14 20 0 0 1 0 0 SULT1C3 442038 broad.mit.edu 37 2 108881360 108881360 + Missense_Mutation SNP A A T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:108881360A>T ENST00000329106.2 + 6 701 c.701A>T c.(700-702)tAt>tTt p.Y234F NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 234 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 AAAATCATCTATCACACCTCC 0.413000 40 69 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160721115 160721115 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr5:160721115G>A ENST00000274547.2 - 11 1729 c.1512C>T c.(1510-1512)atC>atT p.I504I GABRB2_ENST00000353437.6_Silent_p.I466I|GABRB2_ENST00000393959.1_Silent_p.I504I|GABRB2_ENST00000517901.1_Silent_p.I403I|GABRB2_ENST00000517547.1_Silent_p.I306I|GABRB2_ENST00000520240.1_Silent_p.I466I NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 504 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GCCAATAGACGATGTTGAAGA 0.458000 41 63 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120673793 120673793 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr3:120673793C>T ENST00000273666.6 + 3 467 c.196C>T c.(196-198)Cgg>Tgg p.R66W STXBP5L_ENST00000471454.1_Missense_Mutation_p.R66W|STXBP5L_ENST00000497029.1_Missense_Mutation_p.R66W|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R66W|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R66W NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 66 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) TCAGACAGTTCGGCATGGTTT 0.378000 17 31 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 4 41 0 0 1 0 0 GSDMC 56169 broad.mit.edu 37 8 130778039 130778039 + Splice_Site SNP C C A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr8:130778039C>A ENST00000276708.4 - 4 1286 c.404_splice c.e4-1 p.R135_splice NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 135 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 CCAACAGTTTCCTGGGGATTT 0.522000 23 36 3.10358e-05 3.1461e-05 1 1 0 AXL 558 broad.mit.edu 37 19 41749596 41749596 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr19:41749596G>A ENST00000301178.4 + 12 1711 c.1521G>A c.(1519-1521)cgG>cgA p.R507R AXL_ENST00000593513.1_Silent_p.R239R|AXL_ENST00000359092.3_Silent_p.R498R NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 507 integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 ACAGTCGTCGGACCACTGAAG 0.557000 63 70 0 0 1 0 0 CCER1 196477 broad.mit.edu 37 12 91347640 91347640 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr12:91347640C>T ENST00000358859.2 - 1 1313 c.880G>A c.(880-882)Gtg>Atg p.V294M CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 GCATCACACAcctcctggtca 0.517000 76 119 0 0 1 0 0 SLC1A7 6512 broad.mit.edu 37 1 53556371 53556371 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:53556371C>T ENST00000371494.4 - 8 1266 c.1139G>A c.(1138-1140)gGc>gAc p.G380D SLC1A7_ENST00000488036.1_5'UTR NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 380 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) GAGCGCAGTGCCGTCCATGTT 0.597000 3 28 0 0 1 0 0 RC3H2 54542 broad.mit.edu 37 9 125620300 125620300 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr9:125620300G>A ENST00000373670.1 - 12 2956 c.2356C>T c.(2356-2358)Cac>Tac p.H786Y RC3H2_ENST00000357244.2_Missense_Mutation_p.H786Y|RC3H2_ENST00000423239.2_Missense_Mutation_p.H786Y Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 786 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TTCTGAGTGTGGTACTGTGCC 0.468000 64 12 0 0 1 0 0 CCL23 6368 broad.mit.edu 37 17 34340784 34340784 + Splice_Site SNP A A C TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr17:34340784A>C ENST00000293280.2 - 3 372 c.302_splice c.e3+1 p.I101_splice CCL23_ENST00000591423.1_Splice_Site_p.I84_splice NM_005064.3 NP_005055.2 P55773 CCL23_HUMAN chemokine (C-C motif) ligand 23 84 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation extracellular space chemokine activity|heparin binding large_intestine(2)|liver(1)|lung(2)|prostate(1) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) Treprostinil(DB00374) TGGCACCTACATGACACCCGG 0.547000 26 33 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139908101 139908101 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr5:139908101C>T ENST00000297183.6 + 29 5694 c.5570C>T c.(5569-5571)gCc>gTc p.A1857V ANKHD1_ENST00000544120.1_Missense_Mutation_p.A240V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.A1857V|ANKHD1_ENST00000360839.2_Missense_Mutation_p.A1857V NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCATTTTGCCCTGCTGGCT 0.473000 74 114 0 0 1 0 0 MECR 51102 broad.mit.edu 37 1 29557308 29557308 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:29557308G>A ENST00000263702.6 - 1 136 c.111C>T c.(109-111)tcC>tcT p.S37S MECR_ENST00000373791.3_5'UTR|MECR_ENST00000489248.1_5'UTR Q9BV79 MECR_HUMAN mitochondrial trans-2-enoyl-CoA reductase 37 fatty acid biosynthetic process mitochondrion trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1) 11 Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137) CAGGCTCGGCGGATGCGGAGT 0.711000 9 7 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37730618 37730618 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr8:37730618G>A ENST00000330843.4 - 4 1714 c.1702C>T c.(1702-1704)Cct>Tct p.P568S RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 568 Ser-rich. protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) GAGCTAGAAGGAAGAGGAGGA 0.532000 41 45 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170802931 170802931 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr3:170802931C>T ENST00000436636.2 - 25 3318 c.2974G>A c.(2974-2976)Gag>Aag p.E992K TNIK_ENST00000488470.1_Missense_Mutation_p.E937K|TNIK_ENST00000460047.1_Missense_Mutation_p.E929K|TNIK_ENST00000284483.8_Missense_Mutation_p.E984K|TNIK_ENST00000470834.1_Missense_Mutation_p.E955K|TNIK_ENST00000357327.5_Missense_Mutation_p.E963K|TNIK_ENST00000475336.1_Missense_Mutation_p.E900K|TNIK_ENST00000538048.1_Missense_Mutation_p.E944K|TNIK_ENST00000369326.5_Missense_Mutation_p.E970K|TNIK_ENST00000341852.6_Missense_Mutation_p.E908K NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 992 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TCCTCATCCTCTTCATCTTCA 0.478000 11 13 0 0 1 0 0 FSHR 2492 broad.mit.edu 37 2 49190046 49190046 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:49190046G>A ENST00000406846.2 - 10 2033 c.1914C>T c.(1912-1914)ttC>ttT p.F638F FSHR_ENST00000346173.3_Silent_p.F576F|FSHR_ENST00000541117.1_Silent_p.F374F|FSHR_ENST00000304421.4_Silent_p.F612F NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 638 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TCAGCAGAATGAAGAAATCTC 0.458000 Gonadal Dysgenesis, 46 XX 26 39 0 0 1 0 0 SLC26A11 284129 broad.mit.edu 37 17 78195416 78195416 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr17:78195416C>T ENST00000361193.3 + 3 337 c.57C>T c.(55-57)gcC>gcT p.A19A SLC26A11_ENST00000546047.2_Silent_p.A19A|SLC26A11_ENST00000411502.3_Silent_p.A19A|SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000572725.1_Silent_p.A19A NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 19 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CCGGGATGGCCCCGAGCGCCT 0.682000 10 17 0 0 1 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15587190 15587190 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr19:15587190C>T ENST00000292609.4 - 2 420 c.291G>A c.(289-291)gtG>gtA p.V97V PGLYRP2_ENST00000340880.4_Silent_p.V97V Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 97 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 CATGTCGGGCCACCTCCTTGG 0.617000 15 64 0 0 1 0 0 GALNT6 11226 broad.mit.edu 37 12 51748166 51748166 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr12:51748166G>A ENST00000543196.2 - 11 2071 c.1866C>T c.(1864-1866)gtC>gtT p.V622V GALNT6_ENST00000356317.3_Silent_p.V622V Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 622 Ricin B-type lectin. protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CTGGGTCCTAGACAAAGAGCC 0.562000 6 22 0 0 1 0 0 TMCC3 57458 broad.mit.edu 37 12 94975508 94975508 + Missense_Mutation SNP C C A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr12:94975508C>A ENST00000261226.4 - 2 1016 c.885G>T c.(883-885)agG>agT p.R295S TMCC3_ENST00000551457.1_Missense_Mutation_p.R264S NM_020698.2 NP_065749.2 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 295 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 CCTTGATCTCCCTCAGTTCCT 0.557000 25 49 1.37878e-21 1.41218e-21 1 1 0 CCDC19 25790 broad.mit.edu 37 1 159858161 159858161 + Missense_Mutation SNP T T A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:159858161T>A ENST00000426543.2 - 4 598 c.143A>T c.(142-144)aAg>aTg p.K48M CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.K133M Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 133 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) TTCCTTCTCCTTCTTGAAGGC 0.532000 27 43 0 0 1 0 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032355 46032355 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr21:46032355C>T ENST00000334662.2 + 1 360 c.338C>T c.(337-339)cCc>cTc p.P113L TSPEAR_ENST00000323084.4_Intron NM_198695.2 NP_941968.2 P60410 KR108_HUMAN keratin associated protein 10-8 113 19 X 5 AA repeats of C-C-X(3). keratin filament breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 17 ACCTCCTCCCCCTGCCAACAG 0.637000 105 133 0 0 1 0 0 CRB2 286204 broad.mit.edu 37 9 126139294 126139294 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr9:126139294G>A ENST00000373631.3 + 13 3812 c.3811G>A c.(3811-3813)Gag>Aag p.E1271K CRB2_ENST00000373629.2_Missense_Mutation_p.E939K NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 1271 extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 GGCCCGGCTGGAGATGGACAG 0.647000 12 1 0 0 1 0 0 HINFP 25988 broad.mit.edu 37 11 119004810 119004810 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr11:119004810G>A ENST00000350777.2 + 10 1219 c.1156G>A c.(1156-1158)Gat>Aat p.D386N HINFP_ENST00000527410.1_Silent_p.K406K NM_001243259.1|NM_015517.4|NM_198971.2 NP_001230188.1|NP_056332.2|NP_945322.1 Q9BQA5 HINFP_HUMAN histone H4 transcription factor 386 Interaction with NPAT.|Required for activation of histone H4 transcription and contributes to DNA- binding. DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GGAACATGAAGATGGCTATAT 0.552000 24 73 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161556 90161556 + RNA SNP G G C TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr16:90161556G>C ENST00000567960.1 + 0 292 TUBB8P7_ENST00000564451.1_RNA GTGTGGGGCCGGAAACAACTG 0.567000 12 49 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158325757 158325757 + Nonsense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:158325757C>T ENST00000444681.2 + 3 762 c.469C>T c.(469-471)Cga>Tga p.R157* CD1E_ENST00000368156.1_Nonsense_Mutation_p.R166*|CD1E_ENST00000368167.3_Nonsense_Mutation_p.R256*|CD1E_ENST00000452291.2_Nonsense_Mutation_p.R67*|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368164.3_Nonsense_Mutation_p.R67*|CD1E_ENST00000368161.3_Nonsense_Mutation_p.R256*|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368166.3_Nonsense_Mutation_p.R67*|CD1E_ENST00000368165.3_Nonsense_Mutation_p.R166*|CD1E_ENST00000368160.3_Nonsense_Mutation_p.R256*|CD1E_ENST00000434258.1_Nonsense_Mutation_p.R254* NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 256 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) GGGCACTCAGCGAGGGGACGT 0.627000 40 69 0 0 1 0 0 REP15 387849 broad.mit.edu 37 12 27849976 27849976 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr12:27849976G>A ENST00000310791.2 + 1 549 c.481G>A c.(481-483)Ggt>Agt p.G161S RP11-1060J15.4_ENST00000536317.1_RNA|RP11-1060J15.4_ENST00000536922.1_RNA|RP11-1060J15.4_ENST00000542660.1_RNA NM_001029874.1 NP_001025045.1 Q6BDI9 REP15_HUMAN RAB15 effector protein 161 early endosome membrane breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1) 9 Lung SC(9;0.0873) GGATTGCCTGGGTCTGTTTAT 0.453000 51 51 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93595812 93595812 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr3:93595812G>A ENST00000394236.3 - 14 2184 c.1868C>T c.(1867-1869)cCa>cTa p.P623L PROS1_ENST00000407433.1_Missense_Mutation_p.P492L NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 623 Laminin G-like 2. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) GCAGATACCTGGAAGGCCACC 0.338000 43 57 0 0 1 0 0 TIGD4 201798 broad.mit.edu 37 4 153691655 153691655 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr4:153691655G>A ENST00000304337.2 - 2 1322 c.502C>T c.(502-504)Cct>Tct p.P168S NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 168 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) AAATAATAAGGAAGTACATTT 0.348000 32 56 0 0 1 0 0 IQGAP1 8826 broad.mit.edu 37 15 91027479 91027479 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr15:91027479C>T ENST00000268182.5 + 30 3940 c.3816C>T c.(3814-3816)gtC>gtT p.V1272V IQGAP1_ENST00000560738.1_Silent_p.V700V NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1272 C1. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CTTGTGATGTCCCAGAGCTTC 0.423000 57 82 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37864763 37864763 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr17:37864763G>A ENST00000406381.2 + 5 835 c.325G>A c.(325-327)Gag>Aag p.E109K ERBB2_ENST00000541774.1_Missense_Mutation_p.E124K|ERBB2_ENST00000578199.1_Missense_Mutation_p.E109K|ERBB2_ENST00000540147.1_Missense_Mutation_p.E109K|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540042.1_Missense_Mutation_p.E109K|ERBB2_ENST00000584601.1_Missense_Mutation_p.E109K|ERBB2_ENST00000584450.1_Missense_Mutation_p.E139K|ERBB2_ENST00000269571.5_Missense_Mutation_p.E139K NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 139 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) AGGCCTGCGGGAGCTGCAGCT 0.592000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 51 79 0 0 1 0 0 FSHR 2492 broad.mit.edu 37 2 49210091 49210091 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:49210091G>A ENST00000406846.2 - 8 747 c.628C>T c.(628-630)Cct>Tct p.P210S FSHR_ENST00000346173.3_Missense_Mutation_p.P210S|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Missense_Mutation_p.P184S NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 210 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) ACATCATTAGGCAATTCTTCT 0.403000 Gonadal Dysgenesis, 46 XX 27 54 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66935637 66935637 + Missense_Mutation SNP T T A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr12:66935637T>A ENST00000359742.4 - 3 470 c.230A>T c.(229-231)aAg>aTg p.K77M GRIP1_ENST00000286445.7_Missense_Mutation_p.K77M|GRIP1_ENST00000398016.3_Missense_Mutation_p.K77M Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 77 PDZ 1. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) TACTCTTGGCTTGCCATCCTT 0.468000 115 141 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34024429 34024429 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr6:34024429C>T ENST00000374181.3 - 5 1229 c.1060G>A c.(1060-1062)Gac>Aac p.D354N GRM4_ENST00000374177.3_Intron|GRM4_ENST00000538487.1_Missense_Mutation_p.D354N|GRM4_ENST00000455714.2_Missense_Mutation_p.D214N|GRM4_ENST00000535756.1_Missense_Mutation_p.D221N|GRM4_ENST00000545715.1_Missense_Mutation_p.D46N|GRM4_ENST00000544773.1_Missense_Mutation_p.D185N NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 354 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CGGTTGTTGTCCAGCGTGCGG 0.637000 11 16 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15936849 15936849 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr5:15936849G>A ENST00000504595.1 + 4 1511 c.1030G>A c.(1030-1032)Gag>Aag p.E344K FBXL7_ENST00000329673.7_Missense_Mutation_p.E332K|FBXL7_ENST00000510662.1_Missense_Mutation_p.E297K NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 344 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CGGCCTGCGGGAGATCGCCAA 0.657000 11 14 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140174597 140174597 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr5:140174597C>T ENST00000526136.1 + 1 48 c.48C>T c.(46-48)ctC>ctT p.L16L PCDHA2_ENST00000520672.2_Silent_p.L16L|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.L16L NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGCTGCTCTCGCTTCTGC 0.582000 48 70 0 0 1 0 0 NRP2 8828 broad.mit.edu 37 2 206659776 206659776 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:206659776G>A ENST00000360409.3 + 17 3581 c.2790G>A c.(2788-2790)gaG>gaA p.E930E NRP2_ENST00000357785.5_Silent_p.E925E|NRP2_ENST00000540178.1_Silent_p.E925E|NRP2_ENST00000540841.1_Silent_p.E908E|NRP2_ENST00000412873.2_Silent_p.E908E NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 930 angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 GCTGCTCCGAGGCATGACGGA 0.478000 19 22 0 0 1 0 0 RNF185 91445 broad.mit.edu 37 22 31592963 31592963 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr22:31592963C>T ENST00000326132.5 + 5 509 c.350C>T c.(349-351)cCg>cTg p.P117L RNF185_ENST00000426256.2_Missense_Mutation_p.P55L|RNF185_ENST00000266252.7_Intron NM_152267.3 NP_689480.2 Q96GF1 RN185_HUMAN ring finger protein 185 117 integral to membrane zinc ion binding NS(1)|large_intestine(1)|lung(3)|skin(1) 6 AGGCCAGAGCCGGAGAATAGA 0.433000 18 29 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130411013 130411013 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chrX:130411013G>A ENST00000370904.1 - 20 3391 c.2481C>T c.(2479-2481)atC>atT p.I827I IGSF1_ENST00000370903.3_Silent_p.I841I|IGSF1_ENST00000361420.3_Silent_p.I836I|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370910.1_Silent_p.I827I Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 836 Ig-like C2-type 8. 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 CCACCGAAATGATTAGAAAGT 0.498000 207 92 0 0 1 0 0 SPATA20 64847 broad.mit.edu 37 17 48626277 48626277 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr17:48626277C>T ENST00000006658.6 + 5 588 c.468C>T c.(466-468)gaC>gaT p.D156D SPATA20_ENST00000393244.3_Silent_p.D96D|SPATA20_ENST00000356488.4_Silent_p.D140D|SPATA20_ENST00000511937.1_3'UTR NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 140 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) TGAAGGTAGACCGTGAGGAGC 0.587000 22 39 0 0 1 0 0 PCED1B 91523 broad.mit.edu 37 12 47629357 47629357 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr12:47629357G>A ENST00000546455.1 + 4 1242 c.511G>A c.(511-513)Gaa>Aaa p.E171K PCED1B_ENST00000432328.1_Missense_Mutation_p.E171K PC-esterase domain containing 1B TGTGGGCGAGGAAGTCACCGG 0.617000 29 41 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58579604 58579604 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr19:58579604G>A ENST00000506786.1 + 5 2180 c.1626G>A c.(1624-1626)ggG>ggA p.G542G ZNF135_ENST00000401053.4_Silent_p.G608G|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Silent_p.G584G|ZNF135_ENST00000313434.5_Silent_p.G584G|ZNF135_ENST00000511556.1_Silent_p.G596G B4DHH9 B4DHH9_HUMAN zinc finger protein 135 596 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) ATGAGTGTGGGAAATCCTTCA 0.532000 49 98 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10427155 10427155 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr17:10427155G>A ENST00000245503.5 - 36 5606 c.5222C>T c.(5221-5223)tCc>tTc p.S1741F MYH2_ENST00000397183.2_Missense_Mutation_p.S1741F|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1741 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 TTGCATTTGGGAAATATCTGT 0.418000 50 57 0 0 1 0 0 IQCE 23288 broad.mit.edu 37 7 2645590 2645590 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr7:2645590C>T ENST00000402050.2 + 20 2008 c.1824C>T c.(1822-1824)atC>atT p.I608I IQCE_ENST00000325979.7_Silent_p.I543I|IQCE_ENST00000404984.1_Silent_p.I557I|IQCE_ENST00000438376.2_Silent_p.I592I NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 608 IQ 2. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) TCGTCATCATCCAGTCCGCTC 0.692000 24 35 0 0 1 0 0 DSCR10 259234 broad.mit.edu 37 21 39580519 39580519 + RNA SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr21:39580519C>T ENST00000432141.1 + 0 641 NR_027695.1 GTGTGTATGCCTGTGTGAGAA 0.448000 170 201 0 0 1 0 0 TLE3 7090 broad.mit.edu 37 15 70366859 70366859 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr15:70366859G>A ENST00000559929.1 - 6 437 c.385C>T c.(385-387)Ccc>Tcc p.P129S TLE3_ENST00000317509.8_Intron|TLE3_ENST00000539550.1_Missense_Mutation_p.P63S|TLE3_ENST00000557907.1_Intron|TLE3_ENST00000558379.1_Intron|TLE3_ENST00000560589.1_Intron|TLE3_ENST00000440567.3_Intron|TLE3_ENST00000560939.1_Intron|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559048.1_Intron|TLE3_ENST00000442299.2_Intron|TLE3_ENST00000451782.2_Intron|TLE3_ENST00000558939.1_Intron|TLE3_ENST00000558201.1_Intron|TLE3_ENST00000557997.1_Intron Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 124 Gln-rich. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GGCAGATTGGGGAGTCCACGT 0.567000 11 16 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29624046 29624046 + Missense_Mutation SNP C C T rs75650664 by1000genomes TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr20:29624046C>T ENST00000278882.3 + 4 450 c.70C>T c.(70-72)Cct>Tct p.P24S FRG1B_ENST00000358464.4_Missense_Mutation_p.P24S|FRG1B_ENST00000439954.2_Missense_Mutation_p.P29S endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGATGAGGGCCCTAGTCCTCC 0.279000 5 23 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28609539 28609539 + Nonsense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr18:28609539C>T ENST00000434452.1 - 4 564 c.410G>A c.(409-411)tGg>tAg p.W137* DSC3_ENST00000360428.4_Nonsense_Mutation_p.W137* NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 137 Cadherin 1. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) AATAGGTGCCCATCTCCTCTT 0.413000 31 50 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182400246 182400246 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr2:182400246G>A ENST00000397033.2 + 28 3521 c.3091G>A c.(3091-3093)Gat>Aat p.D1031N NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 1031 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TAAAAGCAATGATGATTAAGG 0.308000 72 115 0 0 1 0 0 KLK6 5653 broad.mit.edu 37 19 51465133 51465133 + Missense_Mutation SNP T T C TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr19:51465133T>C ENST00000376851.3 - 5 888 c.449A>G c.(448-450)gAt>gGt p.D150G KLK6_ENST00000391808.1_Missense_Mutation_p.D43G|KLK6_ENST00000594641.1_Missense_Mutation_p.D150G|KLK6_ENST00000456750.2_Missense_Mutation_p.D43G|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000310157.2_Missense_Mutation_p.D150G|CTB-147C22.8_ENST00000601506.1_RNA NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 150 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) GTCAGGGAAATCACCTGTTAG 0.572000 31 52 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 107823080 107823080 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr13:107823080C>T ENST00000375915.2 - 3 1280 c.1142G>A c.(1141-1143)aGa>aAa p.R381K NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 381 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 TTTTTCTTCTCTCCTGACGTC 0.443000 24 32 0 0 1 0 0 OAZ3 51686 broad.mit.edu 37 1 151740681 151740681 + Nonsense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr1:151740681C>T ENST00000321531.5 + 4 483 c.316C>T c.(316-318)Cag>Tag p.Q106* OAZ3_ENST00000315067.8_Nonsense_Mutation_p.Q106*|OAZ3_ENST00000479764.1_Intron|OAZ3_ENST00000453029.2_Nonsense_Mutation_p.Q119*|OAZ3_ENST00000400999.1_5'UTR|RP11-98D18.3_ENST00000512280.1_RNA Q9UMX2 OAZ3_HUMAN ornithine decarboxylase antizyme 3 103 cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis cytosol|nucleus ornithine decarboxylase inhibitor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(4) 9 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) L-Ornithine(DB00129) TATCCCATATCAGGCCTTGGA 0.527000 13 24 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41648703 41648703 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr4:41648703G>A ENST00000313860.7 + 12 1512 c.1458G>A c.(1456-1458)atG>atA p.M486I LIMCH1_ENST00000508501.1_Missense_Mutation_p.M486I|LIMCH1_ENST00000513024.1_Missense_Mutation_p.M315I|LIMCH1_ENST00000512946.1_Missense_Mutation_p.M486I|LIMCH1_ENST00000512632.1_Missense_Mutation_p.M486I|LIMCH1_ENST00000511496.1_Missense_Mutation_p.M327I|LIMCH1_ENST00000514096.1_Missense_Mutation_p.M327I|LIMCH1_ENST00000396595.3_Missense_Mutation_p.M332I|LIMCH1_ENST00000512820.1_Missense_Mutation_p.M474I|LIMCH1_ENST00000509277.1_Missense_Mutation_p.M320I|LIMCH1_ENST00000503057.1_Missense_Mutation_p.M871I|LIMCH1_ENST00000381753.4_Missense_Mutation_p.M320I NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 486 actomyosin structure organization actin binding|zinc ion binding p.M486I(1)|p.M871I(1) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 CCAATCCCATGAAATACCTGC 0.493000 137 220 0 0 1 0 0 SLC2A9 56606 broad.mit.edu 37 4 9892267 9892267 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr4:9892267G>A ENST00000506583.1 - 11 1312 c.1095C>T c.(1093-1095)ttC>ttT p.F365F SLC2A9_ENST00000264784.3_Silent_p.F394F|SLC2A9_ENST00000309065.3_Silent_p.F365F Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 394 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 GGGTCCCAAAGAAGAGGCCCA 0.527000 21 34 0 0 1 0 0 METTL22 79091 broad.mit.edu 37 16 8729085 8729085 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr16:8729085G>A ENST00000381920.3 + 5 874 c.616G>A c.(616-618)Gga>Aga p.G206R METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Missense_Mutation_p.G150R NM_024109.2 NP_077014.2 Q9BUU2 MET22_HUMAN methyltransferase like 22 206 methyltransferase activity large_intestine(5)|lung(4) 9 CCTCTTCCGAGGATGTACAGC 0.622000 46 37 0 0 1 0 0 CGGBP1 8545 broad.mit.edu 37 3 88104750 88104750 + Missense_Mutation SNP A A C TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr3:88104750A>C ENST00000398392.2 - 1 1709 c.377T>G c.(376-378)gTc>gGc p.V126G CGGBP1_ENST00000482016.1_Missense_Mutation_p.V126G|CGGBP1_ENST00000462901.1_Missense_Mutation_p.V126G|CGGBP1_ENST00000309534.6_Missense_Mutation_p.V126G Q9UFW8 CGBP1_HUMAN CGG triplet repeat binding protein 1 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding kidney(1)|large_intestine(2)|lung(2) 5 Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677) GAAAGCACGGACTGCTGGGTG 0.478000 29 70 0 0 1 0 0 MBL1P 8512 broad.mit.edu 37 10 81680759 81680759 + RNA SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr10:81680759G>A ENST00000480805.1 + 0 826 NR_002724.2 GGGCCCCCAGGAAACACAGGG 0.562000 3 7 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90077243 90077243 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr5:90077243G>A ENST00000425867.2 + 1 346 c.62G>A c.(61-63)gGa>gAa p.G21E GPR98_ENST00000405460.2_Intron Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4360 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) TATGACTTTGGAAGAGGGTAT 0.299000 7 10 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4967646 4967646 + Frame_Shift_Del DEL T T - TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr11:4967646delT ENST00000380373.2 - 1 710 c.685delA c.(685-687)ttfs p.I229fs MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGGATGCAATTCCCAGTACA 0.433 34 16 --- --- --- --- AKAP8L 26993 broad.mit.edu 37 19 15521344 15521345 + Frame_Shift_Del DEL GG GG - TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr19:15521344_15521345delGG ENST00000397410.4 - 2 138_139 c.74_75delCC c.(73-75)cfs p.P25fs AKAP8L_ENST00000595136.1_5'UTR|AKAP8L_ENST00000595465.1_Frame_Shift_Del_p.P25fs NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 25 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 AATCACAGGTGGGCTGAGCGCT 0.480 2 4 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113740 26113740 + RNA DEL T T - TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chr20:26113740delT ENST00000416563.1 - 0 160 CCAGAAAAAATATGTGAGAGA 0.343 3 4 --- --- --- --- NRK 203447 broad.mit.edu 37 X 105161604 105161604 + Frame_Shift_Del DEL A A - TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546e263b-de06-429c-9865-7c1bc4cb54bc 7215a6fc-1c85-462e-9306-f16c4f694cfb g.chrX:105161604delA ENST00000428173.2 + 16 2758 c.2455delA c.(2455-2457)agfs p.K819fs NRK_ENST00000243300.9_Frame_Shift_Del_p.K818fs Q7Z2Y5 NRK_HUMAN Nik related kinase 818 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 ACAAGCTCAGAAGCCCATTGA 0.423 HNSCC(51;0.14) 2 4 --- --- --- ---