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 NPY5R 4889 broad.mit.edu 37 4 164271443 164271443 + Silent SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr4:164271443C>T ENST00000515560.1 + 4 1540 c.18C>T c.(16-18)gaC>gaT p.D6D NPY5R_ENST00000506953.1_Silent_p.D6D|NPY5R_ENST00000338566.3_Silent_p.D6D Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 6 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) TAGAGCTCGACGAGTATTATA 0.358000 23 36 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 6 14 0 0 1 0 0 PRSS27 83886 broad.mit.edu 37 16 2762757 2762757 + Missense_Mutation SNP A A C TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr16:2762757A>C ENST00000302641.3 - 6 791 c.737T>G c.(736-738)gTg>gGg p.V246G NM_031948.3 NP_114154.1 Q9BQR3 PRS27_HUMAN protease, serine 27 246 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 CCAGCTGATCACCCCCGCCTG 0.667000 6 8 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89692877 89692877 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr10:89692877G>A ENST00000371953.3 + 5 1718 c.361G>A c.(361-363)Gca>Aca p.A121T NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 121 Phosphatase tensin-type. A -> G (in HNSCC).|A -> P (in glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4). 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.?(5)|p.R55fs*1(5)|p.A121P(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(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) TCATGTTGCAGCAATTCACTG 0.393000 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) 54 23 0 0 1 0 0 FAM81B 153643 broad.mit.edu 37 5 94749822 94749822 + Silent SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr5:94749822C>T ENST00000283357.5 + 4 511 c.465C>T c.(463-465)ctC>ctT p.L155L NM_152548.2 NP_689761.2 Q96LP2 FA81B_HUMAN family with sequence similarity 81, member B 155 central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) AGGAATCGCTCGCCAGGAAGT 0.463000 39 46 0 0 1 0 0 SEC11C 90701 broad.mit.edu 37 18 56823020 56823020 + Missense_Mutation SNP G G A rs115898236 by1000genomes TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr18:56823020G>A ENST00000587834.1 + 4 920 c.448G>A c.(448-450)Gtg>Atg p.V150M SEC11C_ENST00000588875.1_Missense_Mutation_p.V150M NM_033280.2 NP_150596.1 Q9BY50 SC11C_HUMAN SEC11 homolog C (S. cerevisiae) 150 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing endoplasmic reticulum membrane|integral to membrane|microsome serine-type peptidase activity endometrium(1)|large_intestine(4)|liver(2)|lung(2) 9 Colorectal(73;0.175) AAAGAAGGACGTGGTGGGAAG 0.363000 29 48 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62287402 62287402 + Silent SNP G G A rs141073062 TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr11:62287402G>A ENST00000378024.4 - 5 14761 c.14487C>T c.(14485-14487)gaC>gaT p.D4829D AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4829 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCAGTTTTGCGTCTGGACCTT 0.488000 4 186 0 0 1 0 0 WAPAL 23063 broad.mit.edu 37 10 88231975 88231975 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr10:88231975G>A ENST00000298767.5 - 7 2492 c.2020C>T c.(2020-2022)Cgt>Tgt p.R674C NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 674 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 CTAAGGCAACGTGTGTTTAGA 0.333000 16 6 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125107242 125107242 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr8:125107242G>A ENST00000522917.1 + 35 4864 c.4658G>A c.(4657-4659)cGg>cAg p.R1553Q FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1553Q NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1553 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ATAGAAACTCGGCCACTGTAC 0.478000 14 39 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43413378 43413378 + Missense_Mutation SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr21:43413378C>T ENST00000310826.5 - 3 1010 c.827G>A c.(826-828)cGg>cAg p.R276Q ZBTB21_ENST00000398505.3_Missense_Mutation_p.R276Q|ZBTB21_ENST00000398499.1_Missense_Mutation_p.R276Q|ZBTB21_ENST00000398511.3_Missense_Mutation_p.R276Q|ZBTB21_ENST00000465968.1_Intron NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 AACAGGTGGCCGTGGTCTCTT 0.428000 23 46 0 0 1 0 0 RAPH1 65059 broad.mit.edu 37 2 204305768 204305768 + Silent SNP A A G TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr2:204305768A>G ENST00000319170.5 - 14 2444 c.2145T>C c.(2143-2145)ccT>ccC p.P715P RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Silent_p.P767P NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 715 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ggggtggaggagggggagggg 0.622000 5 42 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100377162 100377162 + RNA SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr7:100377162C>T ENST00000542585.1 + 0 6557 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCGCAGGGCGCGGGAAAAGTG 0.642000 10 28 0 0 1 0 0 NPAS3 64067 broad.mit.edu 37 14 34263138 34263138 + Missense_Mutation SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr14:34263138C>T ENST00000346562.2 + 9 1167 c.1093C>T c.(1093-1095)Cgc>Tgc p.R365C NPAS3_ENST00000357798.5_Missense_Mutation_p.R384C|NPAS3_ENST00000551492.1_Missense_Mutation_p.R402C|NPAS3_ENST00000356141.4_Missense_Mutation_p.R397C|NPAS3_ENST00000548645.1_Missense_Mutation_p.R367C NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 397 PAC.|PAS 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) AAAGTACTATCGCTGGATGCA 0.373000 23 38 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18906845 18906845 + Missense_Mutation SNP A A T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr9:18906845A>T ENST00000380548.4 + 28 5456 c.5117A>T c.(5116-5118)cAc>cTc p.H1706L ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.H407L NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 1706 TSP type-1 9. 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) GTGCCTGAGCACCTGTGCTCC 0.597000 4 69 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111732 57111732 + Silent SNP G G T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr12:57111732G>T ENST00000454682.1 - 3 3863 c.3582C>A c.(3580-3582)gcC>gcA p.A1194A NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GGGTTGTGGGGGCCCCTTTGG 0.642000 T BCL6 NHL 5 268 1 1 1 1 0 ADCK2 90956 broad.mit.edu 37 7 140373257 140373257 + Missense_Mutation SNP C C G TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr7:140373257C>G ENST00000072869.4 + 1 305 c.127C>G c.(127-129)Ctg>Gtg p.L43V ADCK2_ENST00000476491.1_Missense_Mutation_p.L43V NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 43 integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) CTGCTGGCTTCTGCTGGGCAC 0.682000 19 34 0 0 1 0 0 FANCD2OS 115795 broad.mit.edu 37 3 10146353 10146353 + Missense_Mutation SNP A A G TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr3:10146353A>G ENST00000450660.2 - 2 322 c.106T>C c.(106-108)Tcc>Ccc p.S36P FANCD2OS_ENST00000524279.1_Missense_Mutation_p.S36P NM_001164839.1 NP_001158311.1 FANCD2 opposite strand AAGCAGGGGGAGGCCTTGAAT 0.562000 4 169 0 0 1 0 0 TELO2 9894 broad.mit.edu 37 16 1552359 1552359 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr16:1552359G>A ENST00000262319.6 + 13 1886 c.1607G>A c.(1606-1608)cGg>cAg p.R536Q TELO2_ENST00000564507.1_3'UTR NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 536 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) GCAGCCCTGCGGGCCCTTGAG 0.667000 14 12 0 0 1 0 0 GRM8 0 broad.mit.edu 37 7 126173579 126173579 + Silent SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr7:126173579G>A ENST00000339582.2 - 9 2665 c.1857C>T c.(1855-1857)cgC>cgT p.R619R GRM8_ENST00000444921.2_Silent_p.R619R|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.R619R O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 619 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane p.R619R(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AACTAAGTTCGCGTCCTGAAG 0.458000 HNSCC(24;0.065) 33 74 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54081063 54081063 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr19:54081063G>A ENST00000253144.9 + 7 2582 c.1249G>A c.(1249-1251)Ggg>Agg p.G417R ZNF331_ENST00000449416.1_Missense_Mutation_p.G417R|ZNF331_ENST00000411977.2_Missense_Mutation_p.G417R|ZNF331_ENST00000512387.1_Missense_Mutation_p.G417R|ZNF331_ENST00000513999.1_Missense_Mutation_p.G417R|ZNF331_ENST00000511593.2_Missense_Mutation_p.G417R|ZNF331_ENST00000511154.1_Missense_Mutation_p.G417R NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) TACAGAATGTGGGAAGAGCTT 0.473000 T ? follicular thyroid adenoma 17 50 0 0 1 0 0 DEFA4 1669 broad.mit.edu 37 8 6793553 6793553 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr8:6793553G>A ENST00000297435.2 - 3 407 c.283C>T c.(283-285)Cgt>Tgt p.R95C NM_001925.1 NP_001916.1 P12838 DEF4_HUMAN defensin, alpha 4, corticostatin 95 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 10 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) TAATCGACACGCGTGCAGCAG 0.507000 66 51 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158923248 158923248 + Silent SNP G G C TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr6:158923248G>C ENST00000367097.3 + 13 3910 c.2553G>C c.(2551-2553)ccG>ccC p.P851P TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 851 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CAGCACCCCCGCCCCCTCTGC 0.657000 6 17 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57112308 57112308 + Silent SNP A A G TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr12:57112308A>G ENST00000454682.1 - 3 3287 c.3006T>C c.(3004-3006)acT>acC p.T1002T NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TGGGGGATGGAGTAGCTGGAC 0.652000 T BCL6 NHL 9 140 0 0 1 0 0 AMZ1 155185 broad.mit.edu 37 7 2740188 2740188 + Missense_Mutation SNP G G A rs137963384 TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr7:2740188G>A ENST00000312371.4 + 2 471 c.103G>A c.(103-105)Gcc>Acc p.A35T AMZ1_ENST00000407112.1_Missense_Mutation_p.A35T NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 35 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) GTATGTGTCCGCCTTCTCCCC 0.657000 5 383 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33525560 33525560 + Missense_Mutation SNP A A G TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr2:33525560A>G ENST00000404816.2 + 21 3631 c.3278A>G c.(3277-3279)cAg>cGg p.Q1093R LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000404525.1_Missense_Mutation_p.Q714R|LTBP1_ENST00000390003.4_Missense_Mutation_p.Q768R|LTBP1_ENST00000418533.2_Missense_Mutation_p.Q767R|LTBP1_ENST00000354476.3_Missense_Mutation_p.Q1094R|LTBP1_ENST00000407925.1_Missense_Mutation_p.Q767R|LTBP1_ENST00000402934.1_Missense_Mutation_p.Q714R|LTBP1_ENST00000272273.5_Missense_Mutation_p.Q33R Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1093 EGF-like 9; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GTAAACGGGCAGTGCAAAAAT 0.473000 55 62 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60885876 60885876 + Missense_Mutation SNP G G T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr20:60885876G>T ENST00000252999.3 - 75 10357 c.10291C>A c.(10291-10293)Cgc>Agc p.R3431S NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3431 Laminin G-like 4. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTCTCCCAGCGCACGGAGACC 0.721000 3 19 0.115264 0.11746 1 1 0 CD200R1L 344807 broad.mit.edu 37 3 112546321 112546321 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr3:112546321G>A ENST00000488794.1 - 5 849 c.260C>T c.(259-261)tCg>tTg p.S87L CD200R1L_ENST00000448932.1_Missense_Mutation_p.S87L|CD200R1L_ENST00000398214.1_Missense_Mutation_p.S108L Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like 108 Ig-like V-type. integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 CTGAAGGTCCGAATTCTGATC 0.463000 47 65 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57411659 57411659 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr1:57411659G>A ENST00000543257.1 - 8 1350 c.784C>T c.(784-786)Cat>Tat p.H262Y C8B_ENST00000535057.1_Missense_Mutation_p.H252Y|C8B_ENST00000371237.4_Missense_Mutation_p.H314Y NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 314 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 AACTCGTAATGGAGCATGAGG 0.468000 32 38 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38572687 38572687 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr19:38572687G>A ENST00000222345.6 + 3 991 c.482G>A c.(481-483)aGg>aAg p.R161K NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 161 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TCCCCCGGCAGGGCCTTCCTC 0.711000 71 153 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21083938 21083938 + Silent SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr22:21083938C>T ENST00000255882.6 - 38 4556 c.4470G>A c.(4468-4470)acG>acA p.T1490T PI4KA_ENST00000414196.3_Silent_p.T242T|PI4KA_ENST00000572273.1_Silent_p.T1432T NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1432 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) ACAGCAGCAGCGTCCTGCGCT 0.597000 4 4 0 0 1 0 0 CD22 933 broad.mit.edu 37 19 35831915 35831915 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr19:35831915G>A ENST00000085219.5 + 7 1447 c.1381G>A c.(1381-1383)Gcc>Acc p.A461T CD22_ENST00000594250.1_Missense_Mutation_p.A284T|CD22_ENST00000544992.2_Missense_Mutation_p.A461T|CD22_ENST00000536635.2_Missense_Mutation_p.A373T|CD22_ENST00000341773.6_Missense_Mutation_p.A284T|CD22_ENST00000270311.6_Missense_Mutation_p.A341T|CD22_ENST00000419549.2_Missense_Mutation_p.A289T NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 461 Ig-like C2-type 4. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) ACCCCATGGCGCCTGGGAGGA 0.542000 33 96 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195488980 195488980 + Silent SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr3:195488980C>T ENST00000463781.3 - 14 14949 c.14490G>A c.(14488-14490)caG>caA p.Q4830Q MUC4_ENST00000349607.4_Silent_p.Q543Q|MUC4_ENST00000475231.1_Silent_p.Q4778Q|MUC4_ENST00000346145.4_Silent_p.Q594Q NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1587 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CCGTGCGGTTCTGGTACTCGG 0.736000 10 25 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101569184 101569184 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr15:101569184G>A ENST00000284395.5 + 21 3101 c.2701G>A c.(2701-2703)Ggc>Agc p.G901S LRRK1_ENST00000388948.3_Missense_Mutation_p.G904S Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 904 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CATAGAAACCGGCACCCTGCT 0.552000 4 245 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723596 49723596 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr3:49723596G>A ENST00000449682.2 - 9 1407 c.1046C>T c.(1045-1047)cCc>cTc p.P349L MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 335 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity p.P335L(5) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGAGCCGTCGGGGTTCCGGCA 0.667000 3 27 0 0 1 0 0 GART 2618 broad.mit.edu 37 21 34911630 34911630 + Splice_Site SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr21:34911630C>T ENST00000381831.3 - 2 256 c.e2-1 GART_ENST00000381839.3_5'UTR|GART_ENST00000381815.4_5'UTR|GART_ENST00000361093.5_5'UTR NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) ATTGTTCTGTCTGTAAAGCAG 0.438000 38 98 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7637984 7637984 + Silent SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr17:7637984G>A ENST00000572933.1 + 7 2396 c.936G>A c.(934-936)tcG>tcA p.S312S DNAH2_ENST00000570791.1_Silent_p.S312S|DNAH2_ENST00000082259.3_Silent_p.S312S|DNAH2_ENST00000389173.2_Silent_p.S312S Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 312 Stem (By similarity). S -> T (in dbSNP:rs3744254). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.S312S(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TTGCCAAGTCGTCCTACTTGG 0.522000 32 53 0 0 1 0 0 BGN 633 broad.mit.edu 37 X 152773771 152773771 + Silent SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chrX:152773771C>T ENST00000331595.4 + 8 1161 c.975C>T c.(973-975)ttC>ttT p.F325F BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Silent_p.F264F NM_001711.4 NP_001702.1 P21810 PGS1_HUMAN biglycan 325 proteinaceous extracellular matrix|transport vesicle extracellular matrix structural constituent breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCATGGGCTTCGGGGTGAAGC 0.617000 164 164 0 0 1 0 0 SLC16A14 151473 broad.mit.edu 37 2 230923895 230923895 + Silent SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr2:230923895G>A ENST00000295190.4 - 2 632 c.174C>T c.(172-174)aaC>aaT p.N58N NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 58 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) GCCATTCCACGTTGAGGACAC 0.562000 52 49 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128471489 128471489 + Silent SNP A A C TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr2:128471489A>C ENST00000322313.4 - 18 3134 c.2976T>G c.(2974-2976)ggT>ggG p.G992G NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 992 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) AGTCCTGGCCACCCCGGAAAG 0.662000 20 167 0 0 1 0 0 HSPB7 27129 broad.mit.edu 37 1 16343699 16343699 + Missense_Mutation SNP C C T rs143274675 TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr1:16343699C>T ENST00000311890.9 - 2 1029 c.203G>A c.(202-204)cGc>cAc p.R68H HSPB7_ENST00000375718.4_Missense_Mutation_p.R143H|HSPB7_ENST00000487046.1_Missense_Mutation_p.R73H|HSPB7_ENST00000411503.1_Missense_Mutation_p.R68H|HSPB7_ENST00000406363.2_Missense_Mutation_p.R72H NM_014424.4 NP_055239.1 Q9UBY9 HSPB7_HUMAN heat shock 27kDa protein family, member 7 (cardiovascular) 68 Required for localization to SC35 splicing speckles. regulation of heart contraction|response to heat|response to unfolded protein Cajal body protein C-terminus binding breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) CCCACCGGGGCGGGCTGTGGG 0.627000 77 115 0 0 1 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177102 89177102 + Silent SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chrX:89177102C>T ENST00000561129.2 + 1 148 c.18C>T c.(16-18)gaC>gaT p.D6D TGIF2LX_ENST00000283891.5_Silent_p.D6D Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 6 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.D6D(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1) 40 CCGCTGCGGACGGCCCGGCTG 0.517000 34 47 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784471 82784471 + Missense_Mutation SNP A A G TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr7:82784471A>G ENST00000423517.2 - 2 1823 c.1486T>C c.(1486-1488)Tca>Cca p.S496P PCLO_ENST00000333891.8_Missense_Mutation_p.S496P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 442 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S496P(6)|p.?(3) 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 GGCTTTGCTGAGCCAGGCTGT 0.607000 13 366 0 0 1 0 0 CDK11B 984 broad.mit.edu 37 1 1571791 1571791 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr1:1571791G>A ENST00000407249.3 - 19 1978 c.1979C>T c.(1978-1980)gCa>gTa p.A660V CDK11B_ENST00000341832.6_Missense_Mutation_p.A613V|CDK11B_ENST00000340677.5_Missense_Mutation_p.A647V|CDK11B_ENST00000317673.7_Missense_Mutation_p.A658V P21127 CD11B_HUMAN cyclin-dependent kinase 11B 670 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 CTTCTTGACTGCTGGGAGCTC 0.572000 5 42 0 0 1 0 0 MOGS 7841 broad.mit.edu 37 2 74689679 74689679 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr2:74689679G>A ENST00000233616.4 - 4 1399 c.1237C>T c.(1237-1239)Cca>Tca p.P413S MOGS_ENST00000452063.2_Missense_Mutation_p.P307S|MOGS_ENST00000409065.1_3'UTR NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 413 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 CCGATGTCTGGCAATACCAGC 0.597000 5 240 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35546640 35546640 + Missense_Mutation SNP G G C TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr9:35546640G>C ENST00000455600.1 + 2 691 c.122G>C c.(121-123)aGa>aCa p.R41T RUSC2_ENST00000468041.1_3'UTR NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 41 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) GGGAGCACAAGACCTAATCCC 0.592000 6 83 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78369775 78369775 + Silent SNP T T C TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr11:78369775T>C ENST00000278550.7 - 34 8100 c.7638A>G c.(7636-7638)acA>acG p.T2546T NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 AGCTGGTGATTGTGGAGCCAT 0.537000 48 53 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147259309 147259309 + Silent SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr7:147259309C>T ENST00000361727.3 + 12 2373 c.1857C>T c.(1855-1857)agC>agT p.S619S NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 619 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CTGATGGCAGCGGACCTCTGG 0.398000 HNSCC(39;0.1) 42 94 0 0 1 0 0 ZNF41 7592 broad.mit.edu 37 X 47307146 47307146 + Nonsense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chrX:47307146G>A ENST00000377065.4 - 5 2662 c.2023C>T c.(2023-2025)Cga>Tga p.R675* ZNF41_ENST00000397050.2_Nonsense_Mutation_p.R685*|ZNF41_ENST00000313116.7_Nonsense_Mutation_p.R675* NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 717 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) AGATTTGATCGGTCAGTGAAG 0.448000 47 55 0 0 1 0 0 CES4A 283848 broad.mit.edu 37 16 67034837 67034837 + Silent SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr16:67034837C>T ENST00000540947.2 + 4 664 c.480C>T c.(478-480)cgC>cgT p.R160R CES4A_ENST00000338718.4_Silent_p.R183R|CES4A_ENST00000541479.1_Silent_p.R183R|CES4A_ENST00000535696.1_Silent_p.R62R|CES4A_ENST00000326686.5_Silent_p.R160R|CES4A_ENST00000540579.1_Silent_p.R62R|CES4A_ENST00000398354.1_Silent_p.R160R NM_173815.6 NP_776176.5 Q5XG92 EST4A_HUMAN carboxylesterase 4A 160 extracellular region carboxylesterase activity large_intestine(2)|liver(2)|lung(4)|ovary(1) 9 TGGCCGCCCGCGAGAAAGTGG 0.647000 16 35 0 0 1 0 0 SEPT7 989 broad.mit.edu 37 7 35872445 35872445 + Missense_Mutation SNP A A G rs11538083 TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr7:35872445A>G ENST00000494488.2 + 2 62 c.62A>G c.(61-63)aAt>aGt p.N21S SEPT7_ENST00000435235.1_5'UTR|SEPT7_ENST00000399035.3_Missense_Mutation_p.N34S|SEPT7_ENST00000350320.6_Missense_Mutation_p.N34S|SEPT7_ENST00000399034.2_Missense_Mutation_p.N36S|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000469679.2_Missense_Mutation_p.N34S Q16181 SEPT7_HUMAN septin 7 35 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 GGATTTGCCAATCTCCCAAAT 0.373000 64 87 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276075 186276075 + Silent SNP T T C TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr1:186276075T>C ENST00000445192.2 + 7 1269 c.1224T>C c.(1222-1224)acT>acC p.T408T PRG4_ENST00000367485.4_Silent_p.T315T|PRG4_ENST00000367486.3_Silent_p.T365T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T367T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 408 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T408T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACTCCCAAGGAGC 0.662000 14 156 0 0 1 0 0 ZCCHC12 170261 broad.mit.edu 37 X 117960229 117960229 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chrX:117960229G>A ENST00000310164.2 + 4 1529 c.1022G>A c.(1021-1023)cGa>cAa p.R341Q NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 GCCAGGAAGCGAAAACACACA 0.493000 62 90 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 3 39 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 6 222 0.248553 0.250897 1 1 0 PTPRU 10076 broad.mit.edu 37 1 29611340 29611340 + Silent SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr1:29611340C>T ENST00000373779.3 + 14 2406 c.2277C>T c.(2275-2277)ctC>ctT p.L759L PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000345512.3_Silent_p.L759L|PTPRU_ENST00000460170.2_Silent_p.L759L|PTPRU_ENST00000428026.2_Silent_p.L759L|PTPRU_ENST00000356870.3_Silent_p.L759L|PTPRU_ENST00000323874.8_Silent_p.L759L NM_001195001.1|NM_133178.3 NP_001181930.1|NP_573439.2 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 759 canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) TTGCTGTCCTCATCCTTCTCC 0.617000 37 62 0 0 1 0 0 PLEKHN1 84069 broad.mit.edu 37 1 906524 906524 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr1:906524G>A ENST00000379409.2 + 6 830 c.800G>A c.(799-801)gGg>gAg p.G267E PLEKHN1_ENST00000379410.3_Missense_Mutation_p.G215E|PLEKHN1_ENST00000379407.2_Missense_Mutation_p.G227E Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N member 1 267 central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) ACGGCGTCAGGGCACGAACCC 0.692000 11 10 0 0 1 0 0 OR51T1 401665 broad.mit.edu 37 11 4903765 4903765 + Silent SNP C C T rs138268565 TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr11:4903765C>T ENST00000380378.1 + 1 717 c.717C>T c.(715-717)gaC>gaT p.D239D MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.D212D|MMP26_ENST00000380390.1_Intron NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 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) ATGGCACTGACGTATTGTTTA 0.443000 39 49 0 0 1 0 0 TNNT3 7140 broad.mit.edu 37 11 1956135 1956135 + Missense_Mutation SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr11:1956135C>T ENST00000381558.1 + 13 922 c.643C>T c.(643-645)Cgc>Tgc p.R215C TNNT3_ENST00000381579.3_Missense_Mutation_p.R215C|TNNT3_ENST00000397301.1_Missense_Mutation_p.R234C|TNNT3_ENST00000381589.3_Missense_Mutation_p.R221C|TNNT3_ENST00000381561.4_Missense_Mutation_p.R226C|TNNT3_ENST00000360603.3_Missense_Mutation_p.R217C|TNNT3_ENST00000278317.6_Missense_Mutation_p.R223C|TNNT3_ENST00000397304.2_Missense_Mutation_p.R204C|TNNT3_ENST00000381548.3_Missense_Mutation_p.R225C|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381549.3_Missense_Mutation_p.R215C|TNNT3_ENST00000446240.1_Missense_Mutation_p.R204C P45378 TNNT3_HUMAN troponin T type 3 (skeletal, fast) 234 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding p.R223C(1) breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) GAAGCTGAAACGCCAGAAATA 0.612000 95 124 0 0 1 0 0 MKNK1 8569 broad.mit.edu 37 1 47024299 47024299 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr1:47024299G>A ENST00000371946.4 - 14 1509 c.1346C>T c.(1345-1347)gCc>gTc p.A449V MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371945.4_Missense_Mutation_p.A408V|MKNK1_ENST00000341183.5_3'UTR|MKNK1_ENST00000371944.4_Missense_Mutation_p.A313V NM_003684.5 NP_003675.2 Q9BUB5 MKNK1_HUMAN MAP kinase interacting serine/threonine kinase 1 449 intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 13 Acute lymphoblastic leukemia(166;0.155) CTGGGCCAGGGCCCGTCTCCG 0.622000 20 38 0 0 1 0 0 IGKV1D-16 0 broad.mit.edu 37 2 90139477 90139477 + RNA SNP G G A rs2848291 by1000genomes TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr2:90139477G>A ENST00000492446.1 + 0 275 GTCCCATCAAGGTTCAGCGGC 0.483000 4 189 0 0 1 0 0 TAS2R40 259286 broad.mit.edu 37 7 142919653 142919653 + Missense_Mutation SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr7:142919653C>T ENST00000408947.3 + 1 524 c.482C>T c.(481-483)tCg>tTg p.S161L NM_176882.1 NP_795363.1 P59535 T2R40_HUMAN taste receptor, type 2, member 40 161 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 Melanoma(164;0.059) TTTCCTCTCTCGAGAGATGTC 0.458000 62 150 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35548107 35548107 + Missense_Mutation SNP C C A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr9:35548107C>A ENST00000455600.1 + 2 2158 c.1589C>A c.(1588-1590)gCc>gAc p.A530D NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 530 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) GGCCCTGCAGCCATGGCCGGG 0.667000 15 36 1.5739e-10 1.63502e-10 1 1 0 EXOC1 55763 broad.mit.edu 37 4 56734654 56734654 + Nonsense_Mutation SNP G G T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr4:56734654G>T ENST00000381295.2 + 5 916 c.568G>T c.(568-570)Gaa>Taa p.E190* EXOC1_ENST00000346134.7_Nonsense_Mutation_p.E190*|EXOC1_ENST00000349598.6_Nonsense_Mutation_p.E190* NM_001024924.1 NP_001020095.1 Q9NV70 EXOC1_HUMAN exocyst complex component 1 190 exocytosis|protein transport exocyst protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) AGCCTTTGCAGAAAAATTGTC 0.393000 25 31 2.41591e-17 2.53434e-17 1 1 0 KCNH3 23416 broad.mit.edu 37 12 49937975 49937975 + Silent SNP G G T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr12:49937975G>T ENST00000257981.6 + 7 1259 c.999G>T c.(997-999)ctG>ctT p.L333L NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 333 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 GGGCCCATCTGCTGAAGACGG 0.701000 11 16 6.40141e-05 6.58607e-05 1 1 0 DNM1P47 0 broad.mit.edu 37 15 102312969 102312969 + RNA SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr15:102312969C>T ENST00000561463.1 + 0 14337 TTGGCTCCAGCGGAGTTGAAA 0.572000 12 15 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8379260 8379260 + Silent SNP A A C TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr17:8379260A>C ENST00000360416.3 - 43 6024 c.5886T>G c.(5884-5886)ggT>ggG p.G1962G MYH10_ENST00000396239.1_Silent_p.G1952G|MYH10_ENST00000269243.4_Silent_p.G1931G|MYH10_ENST00000379980.4_Silent_p.G1947G|NDEL1_ENST00000299734.7_Intron NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1931 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TGATGGGGCCACCCCGCCTGG 0.567000 12 60 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22176934 22176934 + Missense_Mutation SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr1:22176934C>T ENST00000374695.3 - 56 7295 c.7216G>A c.(7216-7218)Gtg>Atg p.V2406M HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2406 Ig-like C2-type 9. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) ACTCGGCACACGTACTCGCCC 0.657000 10 18 0 0 1 0 0 TUBB4A 10382 broad.mit.edu 37 19 6495759 6495759 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr19:6495759G>A ENST00000264071.2 - 4 1122 c.751C>T c.(751-753)Cgc>Tgc p.R251C TUBB4A_ENST00000540257.1_Missense_Mutation_p.R251C P04350 TBB4_HUMAN tubulin, beta 4A class IVa 251 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity GCCAGCTTGCGCAGGTCGGCG 0.682000 45 139 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234367298 234367298 + Missense_Mutation SNP C C T rs141749628 by1000genomes TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr1:234367298C>T ENST00000366618.3 + 3 564 c.419C>T c.(418-420)gCg>gTg p.A140V SLC35F3_ENST00000366617.3_Missense_Mutation_p.A71V NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 71 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TGGGGCGTGGCGGTCGTGCTG 0.697000 4 165 0 0 1 0 0 ACADS 35 broad.mit.edu 37 12 121176678 121176678 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr12:121176678G>A ENST00000242592.4 + 8 1140 c.989G>A c.(988-990)cGc>cAc p.R330H ACADS_ENST00000411593.2_Missense_Mutation_p.R326H NM_000017.2 NP_000008.1 P16219 ACADS_HUMAN acyl-CoA dehydrogenase, C-2 to C-3 short chain 330 mitochondrial matrix butyryl-CoA dehydrogenase activity p.R330H(2) central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) CTGACCTGGCGCGCTGCCATG 0.642000 55 79 0 0 1 0 0 MAMLD1 10046 broad.mit.edu 37 X 149638772 149638772 + Silent SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chrX:149638772G>A ENST00000370401.2 + 4 1237 c.927G>A c.(925-927)gcG>gcA p.A309A MAMLD1_ENST00000432680.2_Silent_p.A284A|MAMLD1_ENST00000262858.5_Silent_p.A309A|MAMLD1_ENST00000426613.2_Silent_p.A284A Q13495 MAMD1_HUMAN mastermind-like domain containing 1 309 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.A236A(1)|p.A309A(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) AGCTGAAGGCGTTGGCAGCCA 0.632000 59 78 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274238 39274238 + Silent SNP A A G TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr17:39274238A>G ENST00000391413.2 - 1 368 c.330T>C c.(328-330)tgT>tgC p.C110C NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 110 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) agctggggcgacagcagctgg 0.652000 5 69 0 0 1 0 0 MAP7D3 79649 broad.mit.edu 37 X 135313709 135313709 + Silent SNP A A G TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chrX:135313709A>G ENST00000316077.9 - 8 1627 c.1407T>C c.(1405-1407)gcT>gcC p.A469A MAP7D3_ENST00000370661.1_Silent_p.A434A|MAP7D3_ENST00000370663.5_Silent_p.A451A NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 469 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) AAACCTTTGGAGCGTCTCTCG 0.423000 65 91 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 311930 311930 + Missense_Mutation SNP T T G TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr12:311930T>G ENST00000428720.1 - 5 1209 c.466A>C c.(466-468)Acc>Ccc p.T156P SLC6A12_ENST00000424061.2_Missense_Mutation_p.T156P|SLC6A12_ENST00000536824.1_Missense_Mutation_p.T156P|SLC6A12_ENST00000397296.2_Missense_Mutation_p.T156P|SLC6A12_ENST00000359674.4_Missense_Mutation_p.T156P|SLC6A12_ENST00000538272.1_5'UTR NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 156 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) TTGTTGCAGGTCGTCCAGGGC 0.517000 34 51 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144941624 144941624 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr8:144941624G>A ENST00000525985.1 - 2 5869 c.5798C>T c.(5797-5799)gCg>gTg p.A1933V P58107 EPIPL_HUMAN epiplakin 1 1933 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGCGGCCTGCGCCTCCAGCAG 0.667000 35 64 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142573633 142573633 + Missense_Mutation SNP G G A rs146718533 TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr7:142573633G>A ENST00000359396.3 - 7 1032 c.787C>T c.(787-789)Cgg>Tgg p.R263W RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 263 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GTGTGCTTCCGCTTCTGCATC 0.522000 78 170 0 0 1 0 0 PFKFB2 5208 broad.mit.edu 37 1 207252343 207252343 + Silent SNP G G A rs144692490 TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr1:207252343G>A ENST00000367079.2 + 15 1468 c.1395G>A c.(1393-1395)gcG>gcA p.A465A PFKFB2_ENST00000541914.1_Silent_p.A258A|PFKFB2_ENST00000473310.1_3'UTR|PFKFB2_ENST00000411990.2_Silent_p.A367A NM_001018053.1 NP_001018063.1 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 0 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 20 Prostate(682;0.19) CCTCCGCAGCGTCCCTCATGT 0.552000 75 94 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109805496 109805496 + Missense_Mutation SNP G G A rs148197539 TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr1:109805496G>A ENST00000271332.3 + 7 4674 c.4613G>A c.(4612-4614)cGa>cAa p.R1538Q NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1538 Laminin G-like 1. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TTCCCAGTCCGAATGCGGCAG 0.627000 4 149 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44949046 44949046 + Missense_Mutation SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chrX:44949046G>A ENST00000377967.4 + 25 3648 c.3607G>A c.(3607-3609)Gca>Aca p.A1203T KDM6A_ENST00000536777.1_Missense_Mutation_p.A1158T|KDM6A_ENST00000543216.1_Missense_Mutation_p.A1124T|KDM6A_ENST00000382899.4_Missense_Mutation_p.A1210T NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1203 JmjC. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TCTTTATGAAGCAAATGTTCC 0.373000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 16 33 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8216517 8216517 + Silent SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr17:8216517C>T ENST00000361926.3 + 3 989 c.879C>T c.(877-879)ttC>ttT p.F293F ARHGEF15_ENST00000421050.1_Silent_p.F293F NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 293 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CCACCATTTTCGGGGACCCCC 0.592000 33 55 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155176790 155176790 + Silent SNP G G A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr4:155176790G>A ENST00000357232.3 - 21 5456 c.5457C>T c.(5455-5457)aaC>aaT p.N1819N NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1819 Cadherin 16. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CAATCAGGCCGTTCAAACCAC 0.408000 22 18 0 0 1 0 0 SNAPIN 23557 broad.mit.edu 37 1 153632019 153632021 + In_Frame_Del DEL AAC AAC - TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr1:153632019_153632021delAAC ENST00000368685.5 + 3 376_378 c.286_288delAAC c.(286-288)del p.N97del SNAPIN_ENST00000478558.1_3'UTR NM_012437.5 NP_036569.1 O95295 SNAPN_HUMAN SNAP-associated protein 97 intracellular protein transport|synaptic vesicle exocytosis BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome SNARE binding lung(3) 3 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TGTCTTGGTTAACAACATTCTAC 0.433 47 72 --- --- --- --- NR1I3 0 broad.mit.edu 37 1 161202999 161203000 + Frame_Shift_Ins INS - - G rs139473535 by1000genomes TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr1:161202999_161203000insG ENST00000367983.4 - 4 661_662 c.367_368insC c.(367-369)ccafs p.P123fs NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000502985.1_Intron Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 123 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCCCATGTGGCGGGTGTGGGCC 0.564 7 273 --- --- --- --- WASH2P 0 broad.mit.edu 37 2 114355905 114355906 + RNA INS - - T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr2:114355905_114355906insT ENST00000538033.2 + 0 2154 TGTCATGGGGGTGGGGACAGGG 0.599 2 4 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 10 229 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939829 31939830 + Frame_Shift_Ins INS - - A TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr6:31939829_31939830insA ENST00000375331.2 + 1 222_223 c.56_57insA c.(55-57)gaafs p.E19fs DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 19 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 CAGTGGCGGGCAAACCCCTCCC 0.634 8 189 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 144990367 144990367 + Frame_Shift_Del DEL C C - TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr8:144990367delC ENST00000322810.4 - 32 14202 c.14033delG c.(14032-14034)gcfs p.G4678fs PLEC_ENST00000356346.3_Frame_Shift_Del_p.G4527fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.G4545fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.G4564fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.G4541fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.G4509fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.G4568fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.G4541fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.G4519fs NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4678 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGACTCAGGGCCCCCCAGGGA 0.716 2 4 --- --- --- --- PTAR1 375743 broad.mit.edu 37 9 72349082 72349082 + Frame_Shift_Del DEL C C - TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr9:72349082delC ENST00000377200.5 - 2 177 c.175delG c.(175-177)aafs p.E59fs PTAR1_ENST00000340434.4_Frame_Shift_Del_p.E138fs Q7Z6K3 PTAR1_HUMAN protein prenyltransferase alpha subunit repeat containing 1 138 protein prenylation protein prenyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2) 5 ATCCATGTTTCTGGACTCTTT 0.388 16 17 --- --- --- --- SERPINB11 89778 broad.mit.edu 37 18 61388270 61388271 + RNA DEL AC AC - TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c72304bb-c1bd-4b35-8fff-116aa6b680f4 947d02d9-a22f-4b5c-9284-06baad55b580 g.chr18:61388270_61388271delAC ENST00000544088.1 + 0 836 SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) GTGCATGTTAACACACACACAC 0.386 2 4 --- --- --- ---