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 TMPRSS3 64699 broad.mit.edu 37 21 43810090 43810090 + Missense_Mutation SNP T T C TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr21:43810090T>C ENST00000291532.3 - 3 1106 c.151A>G c.(151-153)Atc>Gtc p.I51V TMPRSS3_ENST00000380399.1_Missense_Mutation_p.I135V|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.I51V|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.I49V|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.I51V NM_032404.2 NP_115780.1 P57727 TMPS3_HUMAN transmembrane protease, serine 3 51 LKFFPIIVI -> FEVFSQSSSL (in Ref. 1; AAG37012). cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 ATGACGATGATTGGAAAAAAC 0.433000 28 54 0 0 1 0 0 FAM210B 116151 broad.mit.edu 37 20 54941327 54941327 + Missense_Mutation SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr20:54941327C>T ENST00000371384.3 + 3 654 c.563C>T c.(562-564)cCa>cTa p.P188L NM_080821.2 NP_543011.2 Q96KR6 CT108_HUMAN family with sequence similarity 210, member B 188 DUF1279. integral to membrane TTTAAACCTCCAGCTGCAAAA 0.398000 23 90 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81171126 81171126 + RNA SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr16:81171126C>T ENST00000533478.1 - 0 3690 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 AAGAAAGCAGCGAATCCCAGC 0.577000 7 10 0 0 1 0 0 LCE2A 353139 broad.mit.edu 37 1 152671462 152671462 + Nonsense_Mutation SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr1:152671462C>T ENST00000368779.1 + 2 136 c.85C>T c.(85-87)Cga>Tga p.R29* NM_178428.3 NP_848515.1 Q5TA79 LCE2A_HUMAN late cornified envelope 2A 29 Cys-rich. keratinization breast(1)|large_intestine(1)|liver(2)|lung(4) 8 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TCCAAAGTGCCGACCTCAGTG 0.637000 71 123 0 0 1 0 0 TNFRSF11A 8792 broad.mit.edu 37 18 60052048 60052048 + Silent SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr18:60052048C>T ENST00000586569.1 + 10 1670 c.1632C>T c.(1630-1632)ggC>ggT p.G544G TNFRSF11A_ENST00000269485.7_Silent_p.G227G NM_003839.2 NP_003830.1 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, member 11a, NFKB activator 544 adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1) 29 Colorectal(73;0.188) ACTTCAAGGGCGACATCATCG 0.652000 10 23 0 0 1 0 0 RUVBL2 10856 broad.mit.edu 37 19 49518835 49518835 + Missense_Mutation SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr19:49518835G>A ENST00000413176.2 + 14 2271 c.1123G>A c.(1123-1125)Gaa>Aaa p.E375K RUVBL2_ENST00000595090.1_Missense_Mutation_p.E420K|RUVBL2_ENST00000601968.1_Silent_p.Q331Q Q9Y230 RUVB2_HUMAN RuvB-like AAA ATPase 2 420 cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding large_intestine(1)|upper_aerodigestive_tract(1) 2 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) CCAGGGTACAGAAGTGCAGGT 0.602000 40 109 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627428 43627428 + Missense_Mutation SNP G G A rs11261835 by1000genomes TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr9:43627428G>A ENST00000332857.6 - 4 1287 c.1259C>T c.(1258-1260)cCc>cTc p.P420L NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 p.P420L(1) GTGCAGAGAGGGGAGGCCCCA 0.498000 10 170 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102057297 102057297 + Silent SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr10:102057297G>A ENST00000318222.3 - 5 1180 c.798C>T c.(796-798)agC>agT p.S266S PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Silent_p.S266S NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 266 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) AGCCACCTCCGCTGTAGCTTG 0.627000 19 25 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76075244 76075244 + RNA SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr15:76075244G>A ENST00000395215.3 + 0 884 GAGGAAGGAGGTGGAGAGTTT 0.557000 25 69 0 0 1 0 0 ST3GAL6 10402 broad.mit.edu 37 3 98503881 98503881 + Missense_Mutation SNP T T A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr3:98503881T>A ENST00000394162.1 + 7 895 c.428T>A c.(427-429)aTa>aAa p.I143K ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000265261.6_Intron|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.I143K NM_006100.2 NP_006091.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 143 amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 GATGTAATAATAAGGTAAATA 0.348000 14 24 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890639 32890639 + RNA SNP T T C rs79284655 TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr16:32890639T>C ENST00000330048.5 - 0 3159 NR_003083.2 ACCAGCGGCTTGTAGTACACA 0.627000 3 29 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71576931 71576931 + Missense_Mutation SNP T T A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr2:71576931T>A ENST00000409544.1 + 2 1477 c.847T>A c.(847-849)Tcc>Acc p.S283T ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Missense_Mutation_p.S283T|ZNF638_ENST00000377802.2_Missense_Mutation_p.S283T|ZNF638_ENST00000264447.4_Missense_Mutation_p.S283T NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 283 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 CAATAATCGGTCCTTTTTCTC 0.428000 58 115 0 0 1 0 0 HCN4 10021 broad.mit.edu 37 15 73616057 73616057 + Missense_Mutation SNP T T C TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr15:73616057T>C ENST00000261917.3 - 8 3370 c.2377A>G c.(2377-2379)Ata>Gta p.I793V NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 793 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) GTGAGGGCTATGGCCACAGAA 0.697000 19 28 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45623200 45623200 + Silent SNP A A G TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr14:45623200A>G ENST00000267430.5 + 6 1213 c.1128A>G c.(1126-1128)caA>caG p.Q376Q FANCM_ENST00000542564.2_Silent_p.Q350Q|FANCM_ENST00000556036.1_Silent_p.Q376Q NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 376 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TATTGCAGCAAATGGGAATGA 0.284000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 29 66 0 0 1 0 0 MAGEB2 4113 broad.mit.edu 37 X 30237647 30237647 + Missense_Mutation SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chrX:30237647C>T ENST00000378988.4 + 2 1051 c.950C>T c.(949-951)gCc>gTc p.A317V NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 317 protein binding breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 GAAGAGAAAGCCGGAGTCTGA 0.498000 23 43 0 0 1 0 0 MACC1 346389 broad.mit.edu 37 7 20198442 20198442 + Silent SNP G G T rs149661432 by1000genomes TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr7:20198442G>T ENST00000400331.5 - 5 1850 c.1542C>A c.(1540-1542)ctC>ctA p.L514L MACC1_ENST00000589011.1_Silent_p.L514L|MACC1_ENST00000332878.4_Silent_p.L514L NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 514 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 GCAGATTCGAGAGTCTTTTTA 0.393000 53 129 4.17463e-26 4.46504e-26 1 1 0 COPZ1 22818 broad.mit.edu 37 12 54734289 54734289 + Translation_Start_Site SNP A A G rs11170877 by1000genomes TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr12:54734289A>G ENST00000549043.1 + 2 96 c.1A>G c.(1-3)Atg>Gtg p.M1V COPZ1_ENST00000455864.2_Intron|COPZ1_ENST00000416254.2_Intron|COPZ1_ENST00000262061.2_Intron|COPZ1_ENST00000552218.1_Intron|COPZ1_ENST00000552362.1_Intron|COPZ1_ENST00000549116.1_Intron|COPZ1_ENST00000553231.1_Intron|COPZ1_ENST00000548281.1_Intron|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000551779.1_Intron|COPZ1_ENST00000548753.1_Intron P61923 COPZ1_HUMAN coatomer protein complex, subunit zeta 1 0 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol kidney(1)|lung(4) 5 ACCAGTGGTGATGGGAGGCTT 0.488000 4 54 0 0 1 0 0 MED14 9282 broad.mit.edu 37 X 40518771 40518771 + Missense_Mutation SNP T T C TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chrX:40518771T>C ENST00000324817.1 - 27 3891 c.3773A>G c.(3772-3774)aAc>aGc p.N1258S NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 1258 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AAGCGTTTGGTTGGTTTTGGG 0.398000 39 61 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725567 32725567 + Missense_Mutation SNP C C T rs114234640 byFrequency TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr6:32725567C>T ENST00000435145.2 - 4 801 c.740G>A c.(739-741)cGt>cAt p.R247H HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACCCCTGTGACGGATGATAAG 0.552000 7 24 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29295046 29295046 + Silent SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr2:29295046G>A ENST00000331664.5 - 1 2081 c.2082C>T c.(2080-2082)gaC>gaT p.D694D NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 694 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TGCCTTGTTCGTCCTCAGGAT 0.532000 42 93 0 0 1 0 0 AP1M2 10053 broad.mit.edu 37 19 10687903 10687903 + Missense_Mutation SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr19:10687903C>T ENST00000590923.1 - 9 1107 c.1024G>A c.(1024-1026)Gtc>Atc p.V342I AP1M2_ENST00000250244.6_Missense_Mutation_p.V340I Q9Y6Q5 AP1M2_HUMAN adaptor-related protein complex 1, mu 2 subunit 340 MHD. cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1) 9 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) CAAATCACGACGTTTCTCTCC 0.597000 6 29 0 0 1 0 0 PCDHGC5 0 broad.mit.edu 37 5 140869027 140869027 + Missense_Mutation SNP T T C TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr5:140869027T>C ENST00000252087.1 + 1 220 c.220T>C c.(220-222)Tat>Cat p.Y74H PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 74 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAATGGGCGCTATTTTTCCCT 0.562000 56 57 0 0 1 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187693519 187693519 + Splice_Site SNP T T A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr2:187693519T>A ENST00000295131.2 - 9 1135 c.e9-2 NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) CCTGTGAAACTTTAAAAAAAA 0.279000 5 10 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179577501 179577501 + Nonsense_Mutation SNP G G T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr2:179577501G>T ENST00000589042.1 - 94 27475 c.27251C>A c.(27250-27252)tCa>tAa p.S9084* TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.S8767*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.S7840* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8767 Ig-like 74. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCACTTTGTGATGTATCTAC 0.423000 13 38 2.68362e-12 2.75071e-12 1 1 0 SART3 9733 broad.mit.edu 37 12 108919286 108919286 + Missense_Mutation SNP T T C TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr12:108919286T>C ENST00000228284.3 - 17 2705 c.2471A>G c.(2470-2472)cAt>cGt p.H824R SART3_ENST00000431469.2_Missense_Mutation_p.H788R|FICD_ENST00000546448.1_Intron NM_014706.3 NP_055521.1 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T cells 3 824 RRM 2. RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1) 25 CACGGTGCCATGAGCCTTACA 0.507000 Porokeratosis 22 56 0 0 1 0 0 IRGC 56269 broad.mit.edu 37 19 44222962 44222962 + Silent SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr19:44222962G>A ENST00000244314.5 + 2 451 c.252G>A c.(250-252)gcG>gcA p.A84A NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 84 membrane GTP binding|hydrolase activity, acting on acid anhydrides p.A84A(1) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) ACCCTGGCGCGGCTCTCACGG 0.682000 44 152 0 0 1 0 0 DDR2 4921 broad.mit.edu 37 1 162746049 162746049 + Silent SNP C C A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr1:162746049C>A ENST00000367922.2 + 17 2610 c.2172C>A c.(2170-2172)atC>atA p.I724I DDR2_ENST00000367921.3_Silent_p.I724I NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 724 Protein kinase. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) ACTACACAATCAAGATAGCTG 0.488000 72 162 5.97199e-22 6.27825e-22 1 1 0 KRT83 3889 broad.mit.edu 37 12 52714809 52714809 + Missense_Mutation SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr12:52714809G>A ENST00000293670.3 - 1 373 c.311C>T c.(310-312)gCg>gTg p.A104V NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 104 Head. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CACGCACTGCGCGTTGGGGTC 0.627000 105 180 0 0 1 0 0 LILRA6 79168 broad.mit.edu 37 19 54746595 54746595 + Silent SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr19:54746595C>T ENST00000440558.2 - 1 54 c.6G>A c.(4-6)acG>acA p.T2T LILRA6_ENST00000396365.2_Silent_p.T2T|LILRA6_ENST00000419410.2_Silent_p.T2T|LILRA6_ENST00000391735.3_Silent_p.T2T|LILRA6_ENST00000245621.5_Silent_p.T2T|LILRA6_ENST00000270464.5_Silent_p.T2T|LILRB3_ENST00000407860.2_Silent_p.T2T leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGAGGGCGGGCGTCATGGCGT 0.647000 13 130 0 0 1 0 0 SFTPA1 653509 broad.mit.edu 37 10 81373779 81373779 + Silent SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr10:81373779G>A ENST00000398636.3 + 6 795 c.657G>A c.(655-657)cgG>cgA p.R219R SFTPA1_ENST00000372313.5_Silent_p.R160R|SFTPA1_ENST00000419470.2_Silent_p.R234R|SFTPA1_ENST00000372308.3_Silent_p.R219R|SFTPA1_ENST00000428376.2_Silent_p.R219R NM_001164644.1|NM_001164646.1|NM_005411.4 NP_001158116.1|NP_001158118.1|NP_005402.3 Q8IWL2 SFTA1_HUMAN surfactant protein A1 219 C-type lectin. R -> W (associated with susceptibility to idiopathic pulmonary fibrosis in smokers; allele 6A(4) and allele 6A(5); dbSNP:rs4253527). cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) CCGCAGGTCGGGGAAAAGAGC 0.562000 88 78 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29664446 29664446 + Nonsense_Mutation SNP T T A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr17:29664446T>A ENST00000358273.4 + 43 6871 c.6488T>A c.(6487-6489)tTg>tAg p.L2163* NF1_ENST00000356175.3_Nonsense_Mutation_p.L2142* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2163 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AAATTTTACTTGCTGTTTGGC 0.423000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 20 36 0 0 1 0 0 MSR1 0 broad.mit.edu 37 8 16026364 16026364 + Nonsense_Mutation SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr8:16026364C>T ENST00000350896.3 - 4 430 c.233G>A c.(232-234)tGg>tAg p.W78* MSR1_ENST00000262101.5_Nonsense_Mutation_p.W78*|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000445506.2_Nonsense_Mutation_p.W96*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.W78*|MSR1_ENST00000381998.4_Nonsense_Mutation_p.W78* NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 78 Spacer (Probable). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CTTCGTTTCCCACTTCAGGAG 0.388000 25 53 0 0 1 0 0 RP5-998N21.4 0 broad.mit.edu 37 1 149376881 149376881 + RNA SNP G G A rs148842033 by1000genomes TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr1:149376881G>A ENST00000415338.1 - 0 1061 AAGACTCTGGGTTATACTGGT 0.502000 3 15 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55904779 55904779 + Missense_Mutation SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr11:55904779C>T ENST00000301529.1 - 1 415 c.416G>A c.(415-417)cGg>cAg p.R139Q NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R139L(1)|p.R139Q(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) GAGGCAGAGCCGCCGAGACAC 0.473000 33 78 0 0 1 0 0 TNFRSF10C 8794 broad.mit.edu 37 8 22969288 22969288 + Missense_Mutation SNP T T C TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr8:22969288T>C ENST00000356864.3 + 2 648 c.116T>C c.(115-117)gTg>gCg p.V39A TNFRSF10C_ENST00000540813.1_Intron|TNFRSF10C_ENST00000520607.1_3'UTR NM_003841.3 NP_003832.2 O14798 TR10C_HUMAN tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain 39 apoptosis anchored to membrane|integral to plasma membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) CAGCAGACAGTGGCCCCACAG 0.507000 26 47 0 0 1 0 0 KHSRP 8570 broad.mit.edu 37 19 6416895 6416895 + Splice_Site SNP T T G TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr19:6416895T>G ENST00000398148.3 - 13 1275 c.e13-2 NM_003685.2 NP_003676.2 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1) 17 GGGACCACTCTGCAAGACAAG 0.687000 24 62 0 0 1 0 0 AVPR2 0 broad.mit.edu 37 X 153172155 153172155 + Silent SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chrX:153172155C>T ENST00000358927.2 + 4 1298 c.1089C>T c.(1087-1089)tcC>tcT p.S363S AVPR2_ENST00000337474.5_Silent_p.S363S|AVPR2_ENST00000370049.1_3'UTR P30518 V2R_HUMAN arginine vasopressin receptor 2 363 activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 26 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) CCGCCAGCTCCTCCCTGGCCA 0.642000 18 71 0 0 1 0 0 GBP1P1 0 broad.mit.edu 37 1 89889882 89889882 + RNA SNP A A G TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr1:89889882A>G ENST00000513638.1 + 0 623 NR_003133.2 GCAAAGAAAGAATGAGCAGAT 0.453000 161 319 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35697831 35697831 + Silent SNP T T C TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr5:35697831T>C ENST00000440995.2 + 15 2062 c.2062T>C c.(2062-2064)Ttg>Ctg p.L688L SPEF2_ENST00000509059.1_Silent_p.L688L|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.L693L Q9C093 SPEF2_HUMAN sperm flagellar 2 693 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATCAGAACAGTTGCTGAAGAA 0.353000 23 43 0 0 1 0 0 ARHGDIB 397 broad.mit.edu 37 12 15103604 15103604 + Missense_Mutation SNP C C T rs149654565 TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr12:15103604C>T ENST00000228945.4 - 2 187 c.43G>A c.(43-45)Gat>Aat p.D15N ARHGDIB_ENST00000541546.1_Missense_Mutation_p.D15N|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.D15N NM_001175.4 NP_001166.3 P52566 GDIR2_HUMAN Rho GDP dissociation inhibitor (GDI) beta 15 actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol GTPase activator activity|Rho GDP-dissociation inhibitor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 15 AGCTCATCATCATCATCCTCC 0.438000 39 59 0 0 1 0 0 MED26 9441 broad.mit.edu 37 19 16687579 16687579 + Silent SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr19:16687579C>T ENST00000263390.3 - 3 1324 c.1062G>A c.(1060-1062)ccG>ccA p.P354P CTD-3222D19.2_ENST00000409035.1_Silent_p.P362P NM_004831.3 NP_004822.2 O95402 MED26_HUMAN mediator complex subunit 26 354 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 8 CCTTGCAGCCCGGCCCCGCCA 0.706000 13 25 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50683145 50683145 + Missense_Mutation SNP C C A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr6:50683145C>A ENST00000008391.3 + 2 584 c.356C>A c.(355-357)gCg>gAg p.A119E NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 119 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) CTGCACAATGCGCGGGCGCTC 0.622000 58 105 6.60958e-23 7.00843e-23 1 1 0 MYH8 4626 broad.mit.edu 37 17 10318643 10318643 + Missense_Mutation SNP G G C TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr17:10318643G>C ENST00000403437.2 - 8 801 c.707C>G c.(706-708)gCc>gGc p.A236G CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 236 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CACAGTTTTGGCATTGCCAAA 0.483000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 57 117 0 0 1 0 0 PCDH7 5099 broad.mit.edu 37 4 30725552 30725552 + Missense_Mutation SNP C C A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr4:30725552C>A ENST00000361762.2 + 1 3516 c.2508C>A c.(2506-2508)caC>caA p.H836Q PCDH7_ENST00000543491.1_Missense_Mutation_p.H836Q NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 836 Cadherin 7. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 CTCTGGTGCACGTGTTTGTCA 0.493000 24 33 3.10358e-05 3.12902e-05 1 1 0 TRIM42 287015 broad.mit.edu 37 3 140401985 140401985 + Silent SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr3:140401985C>T ENST00000286349.3 + 2 1214 c.1023C>T c.(1021-1023)atC>atT p.I341I NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 341 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TCAGCGCCATCGCCAAGTTCA 0.542000 21 54 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14576907 14576907 + Missense_Mutation SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr12:14576907G>A ENST00000544627.1 + 2 402 c.82G>A c.(82-84)Gtg>Atg p.V28M ATF7IP_ENST00000543189.1_Missense_Mutation_p.V20M|ATF7IP_ENST00000261168.4_Missense_Mutation_p.V20M|ATF7IP_ENST00000536444.1_Missense_Mutation_p.V20M|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000540793.1_Missense_Mutation_p.V20M Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 20 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 AACGATGAGAGTGAGTGATCG 0.358000 20 50 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22001088 22001088 + Silent SNP G G A rs2291550 by1000genomes TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr12:22001088G>A ENST00000261200.4 - 23 2861 c.2862C>T c.(2860-2862)gaC>gaT p.D954D ABCC9_ENST00000345162.2_Silent_p.D918D|ABCC9_ENST00000261201.4_Silent_p.D954D|RP11-729I10.2_ENST00000539874.1_RNA NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 954 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ATCTACCTTCGTCTTCGTCCT 0.433000 24 32 0 0 1 0 0 BPIFB3 359710 broad.mit.edu 37 20 31654682 31654682 + Splice_Site SNP A A G TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr20:31654682A>G ENST00000375494.3 + 9 977 c.978_splice c.e9+1 p.E326_splice NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 326 innate immune response cytoplasm|extracellular region lipid binding|protein binding TTGCTCCCTGAGGTGAGTGAC 0.522000 27 105 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725559 32725559 + Missense_Mutation SNP C C T rs113761247 byFrequency TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr6:32725559C>T ENST00000435145.2 - 4 809 c.748G>A c.(748-750)Ggt>Agt p.G250S HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CCTTTCTGACCCCTGTGACGG 0.552000 5 21 0 0 1 0 0 CD74 972 broad.mit.edu 37 5 149782733 149782733 + Silent SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr5:149782733G>A ENST00000009530.7 - 7 769 c.768C>T c.(766-768)aaC>aaT p.N256N CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Intron|CD74_ENST00000353334.6_Intron P04233 HG2A_HUMAN CD74 molecule, major histocompatibility complex, class II invariant chain 256 Thyroglobulin type-1. antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTCCGTGCCGTTGGGGAAGA 0.597000 T ROS1 NSCLC 22 66 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539531 56539531 + Silent SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr19:56539531C>T ENST00000390649.3 + 7 1932 c.1932C>T c.(1930-1932)gaC>gaT p.D644D NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 644 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGAGCGAAGACGTAAGGAGGC 0.552000 37 114 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065959 9065959 + Missense_Mutation SNP G G T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr19:9065959G>T ENST00000397910.4 - 3 21690 c.21487C>A c.(21487-21489)Ctg>Atg p.L7163M NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7165 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCAGTGGTCAGTCTCTCATCT 0.512000 51 109 4.44712e-29 4.79821e-29 1 1 0 OR10G4 390264 broad.mit.edu 37 11 123886716 123886716 + Silent SNP C C T rs144654389 byFrequency TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr11:123886716C>T ENST00000320891.4 + 1 435 c.435C>T c.(433-435)acC>acT p.T145T NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TCCTGGCCACCGGCACTTGGC 0.547000 95 182 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81155301 81155301 + RNA SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr16:81155301C>T ENST00000533478.1 - 0 4556 PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TGCAGGGCCGCGTGCGTAAAA 0.597000 4 14 0 0 1 0 0 STXBP2 6813 broad.mit.edu 37 19 7705819 7705819 + Missense_Mutation SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr19:7705819G>A ENST00000441779.2 + 6 429 c.392G>A c.(391-393)cGc>cAc p.R131H STXBP2_ENST00000414284.2_Missense_Mutation_p.R117H|CTD-3214H19.4_ENST00000595866.1_3'UTR|STXBP2_ENST00000221283.5_Missense_Mutation_p.R120H NM_001272034.1 NP_001258963.1 Q15833 STXB2_HUMAN syntaxin binding protein 2 120 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 23 GAGCTAGGCCGCTCTCGTCTG 0.662000 47 159 0 0 1 0 0 PTPN11 5781 broad.mit.edu 37 12 112888199 112888199 + Missense_Mutation SNP C C A rs121918454 TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr12:112888199C>A ENST00000351677.2 + 3 413 c.215C>A c.(214-216)gCc>gAc p.A72D PTPN11_ENST00000392597.1_Missense_Mutation_p.A72D NM_002834.3 NP_002825.3 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 11 72 SH2 1. A -> G (in NS1).|A -> S (in NS1).|A -> T (in JMML).|A -> V (in JMML). axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding p.A72V(35)|p.A72D(3) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 GAGAAATTTGCCACTTTGGCT 0.418000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 42 78 2.95478e-19 3.07998e-19 1 1 0 TTC4 7268 broad.mit.edu 37 1 55181589 55181589 + Missense_Mutation SNP A A G TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr1:55181589A>G ENST00000371281.3 + 1 95 c.8A>G c.(7-9)cAa>cGa p.Q3R MROH7_ENST00000414150.2_Intron|TTC4_ENST00000371284.5_3'UTR NM_004623.4 NP_004614.3 O95801 TTC4_HUMAN tetratricopeptide repeat domain 4 3 binding breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1) 9 GCTATGGAACAACCTGGGCAG 0.642000 8 15 0 0 1 0 0 IQCF1 132141 broad.mit.edu 37 3 51929217 51929217 + Missense_Mutation SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr3:51929217G>A ENST00000310914.5 - 4 369 c.307C>T c.(307-309)Cgg>Tgg p.R103W NM_152397.2 NP_689610.2 Q8N6M8 IQCF1_HUMAN IQ motif containing F1 103 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGTATCAGCCGCCACCAGCAC 0.637000 59 82 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208272302 208272302 + Missense_Mutation SNP C C A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr1:208272302C>A ENST00000367033.3 - 6 2377 c.1620G>T c.(1618-1620)agG>agT p.R540S NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 540 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GGCATTTGTCCCTGCGGGAGC 0.557000 13 17 5.50884e-06 5.59989e-06 1 1 0 HAVCR1 26762 broad.mit.edu 37 5 156476111 156476111 + Missense_Mutation SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr5:156476111G>A ENST00000339252.3 - 4 1251 c.719C>T c.(718-720)aCg>aTg p.T240M HAVCR1_ENST00000522693.1_Missense_Mutation_p.T240M|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T240M|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T240M|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T240M NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 235 interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGCAGTGTCGTAGGGTGGGT 0.483000 47 91 0 0 1 0 0 ACVRL1 94 broad.mit.edu 37 12 52309035 52309035 + Missense_Mutation SNP C C T rs148640185 TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr12:52309035C>T ENST00000550683.1 + 6 942 c.841C>T c.(841-843)Cgc>Tgc p.R281C ACVRL1_ENST00000419526.2_Missense_Mutation_p.R93C|ACVRL1_ENST00000388922.4_Missense_Mutation_p.R267C NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 267 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CATGACCTCCCGCAACTCGAG 0.612000 18 62 0 0 1 0 0 EHBP1 23301 broad.mit.edu 37 2 63182658 63182658 + Silent SNP T T C TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr2:63182658T>C ENST00000263991.5 + 15 2910 c.2428T>C c.(2428-2430)Ttg>Ctg p.L810L EHBP1_ENST00000354487.3_Silent_p.L775L|EHBP1_ENST00000405015.3_Silent_p.L775L|EHBP1_ENST00000431489.1_Silent_p.L775L|EHBP1_ENST00000405289.1_Silent_p.L775L NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 810 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TAAGCATCGATTGTTATCTAG 0.358000 7 17 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12977541 12977541 + Missense_Mutation SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr19:12977541C>T ENST00000251472.4 + 18 2143 c.2104C>T c.(2104-2106)Cgc>Tgc p.R702C NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 702 AGC-kinase C-terminal. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CGTGGAAATCCGCCAGTTCTC 0.622000 12 29 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198687263 198687263 + Silent SNP A A T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr1:198687263A>T ENST00000367376.2 + 14 1656 c.1485A>T c.(1483-1485)tcA>tcT p.S495S PTPRC_ENST00000348564.6_Silent_p.S336S|PTPRC_ENST00000442510.2_Silent_p.S497S|PTPRC_ENST00000352140.3_Silent_p.S447S|PTPRC_ENST00000594404.1_Silent_p.S334S NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 495 Fibronectin type-III 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CCATGACATCAGATAATAGTA 0.388000 23 35 0 0 1 0 0 GRHL3 57822 broad.mit.edu 37 1 24671385 24671385 + Splice_Site SNP A A C TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr1:24671385A>C ENST00000361548.4 + 12 1649 c.e12-1 GRHL3_ENST00000356046.2_Splice_Site|GRHL3_ENST00000350501.5_Splice_Site|GRHL3_ENST00000342072.4_Splice_Site|GRHL3_ENST00000236255.4_Splice_Site NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) ACTTCATTGCAGGCAGCCCCC 0.572000 24 45 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89717727 89717727 + Missense_Mutation SNP G G C TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr10:89717727G>C ENST00000371953.3 + 7 2109 c.752G>C c.(751-753)gGt>gCt p.G251A PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 251 C2 tensin-type. G -> C (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). 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.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G251D(2)|p.G165_*404del(1)|p.?(1)|p.G251V(1)|p.G251fs*6(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) CCTGTGTGTGGTGATATCAAA 0.398000 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) 19 20 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063480 9063480 + Missense_Mutation SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr19:9063480G>A ENST00000397910.4 - 3 24169 c.23966C>T c.(23965-23967)aCa>aTa p.T7989I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7991 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T7989R(2)|p.T3622R(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTCTGGTAATGTGGAGGAAAC 0.468000 21 53 0 0 1 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100657167 100657167 + Silent SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr15:100657167G>A ENST00000268070.4 - 13 1878 c.1773C>T c.(1771-1773)gtC>gtT p.V591V NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 591 TSP type-1 1. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) GGTTCTCGCAGACCGCATGTT 0.627000 18 27 0 0 1 0 0 PFDN4 5203 broad.mit.edu 37 20 52831957 52831957 + Missense_Mutation SNP A A C TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr20:52831957A>C ENST00000371419.2 + 3 505 c.251A>C c.(250-252)cAa>cCa p.Q84P PFDN4_ENST00000487129.1_3'UTR NM_002623.3 NP_002614.2 Q9NQP4 PFD4_HUMAN prefoldin subunit 4 84 'de novo' posttranslational protein folding prefoldin complex chaperone binding|unfolded protein binding endometrium(1)|kidney(2) 3 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206) GAAGAAACGCAAGAAATGTTA 0.313000 12 47 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24817937 24817937 + Missense_Mutation SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr16:24817937C>T ENST00000395799.3 + 17 4501 c.4372C>T c.(4372-4374)Cgt>Tgt p.R1458C CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1409C NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1458 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) GCAACAATCTCGTCAACTTGA 0.443000 44 71 0 0 1 0 0 ANKRD20A2 441430 broad.mit.edu 37 9 42368597 42368597 + Silent SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr9:42368597C>T ENST00000377601.2 + 1 295 c.183C>T c.(181-183)gaC>gaT p.D61D NM_001012421.1 NP_001012421.1 Q5SQ80 A20A2_HUMAN ankyrin repeat domain 20 family, member A2 61 large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 4 GAGACCTGGACGCCCTGGACA 0.721000 25 147 0 0 1 0 0 APBB3 10307 broad.mit.edu 37 5 139941733 139941733 + Missense_Mutation SNP T T A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr5:139941733T>A ENST00000357560.4 - 6 1021 c.578A>T c.(577-579)cAg>cTg p.Q193L APBB3_ENST00000511201.2_Missense_Mutation_p.Q193L|APBB3_ENST00000356738.2_Missense_Mutation_p.Q193L|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000412920.3_Missense_Mutation_p.Q193L|APBB3_ENST00000358580.5_Missense_Mutation_p.Q193L|APBB3_ENST00000354402.5_Missense_Mutation_p.Q193L NM_006051.3|NM_133173.2 NP_006042.3|NP_573419.2 O95704 APBB3_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 3 193 PID 1. actin cytoskeleton|cytoplasm endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCAGAGGCTGGCAGTGGAT 0.602000 28 53 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144096940 144096940 + Missense_Mutation SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr7:144096940C>T ENST00000467773.1 - 6 1063 c.1064G>A c.(1063-1065)cGc>cAc p.R355H NOBOX_ENST00000223140.5_Missense_Mutation_p.R238H|NOBOX_ENST00000483238.1_Missense_Mutation_p.R323H NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 355 R -> H (in POF5). cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) CTTGGCCCGGCGATTCTGGAA 0.542000 10 24 0 0 1 0 0 AC003958.2 0 broad.mit.edu 37 17 39567583 39567583 + RNA SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr17:39567583G>A ENST00000432258.1 + 0 2041 AC003958.2_ENST00000430006.1_RNA ctgATCTGGTGCACCGCAAAC 0.542000 5 4 0 0 1 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102513667 102513667 + Missense_Mutation SNP C C G TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr5:102513667C>G ENST00000321521.9 + 23 3313 c.2740C>G c.(2740-2742)Cca>Gca p.P914A PPIP5K2_ENST00000358359.3_Missense_Mutation_p.P914A|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.P914A O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 914 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TGGATATAGACCAGCTTCCAG 0.378000 21 76 0 0 1 0 0 LMNB2 84823 broad.mit.edu 37 19 2433894 2433894 + Missense_Mutation SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr19:2433894G>A ENST00000325327.3 - 8 1474 c.1412C>T c.(1411-1413)tCg>tTg p.S471L LMNB2_ENST00000582871.1_Missense_Mutation_p.S451L Q03252 LMNB2_HUMAN lamin B2 451 Tail. nuclear inner membrane structural molecule activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GACGCTACCCGAGGCCGAGGC 0.667000 46 130 0 0 1 0 0 ARSD 414 broad.mit.edu 37 X 2836028 2836028 + Missense_Mutation SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chrX:2836028G>A ENST00000381154.1 - 5 755 c.680C>T c.(679-681)gCg>gTg p.A227V ARSD_ENST00000217890.6_5'UTR NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D 227 lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GACTGCTCTCGCGGAGACAGA 0.622000 9 23 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122928498 122928498 + Missense_Mutation SNP C C G TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr11:122928498C>G ENST00000534624.1 - 9 2161 c.1885G>C c.(1885-1887)Gga>Cga p.G629R HSPA8_ENST00000227378.3_Missense_Mutation_p.G629R|HSPA8_ENST00000453788.2_Missense_Mutation_p.G476R|HSPA8_ENST00000533540.1_Missense_Mutation_p.G483R|HSPA8_ENST00000532636.1_Missense_Mutation_p.G629R|HSPA8_ENST00000534319.1_Missense_Mutation_p.G393R|HSPA8_ENST00000526110.1_Missense_Mutation_p.G610R NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 629 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GGAGGAGCTCCACCACCAGGA 0.512000 52 99 0 0 1 0 0 WDR65 149465 broad.mit.edu 37 1 43675514 43675514 + Missense_Mutation SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr1:43675514G>A ENST00000372492.4 + 11 2180 c.1856G>A c.(1855-1857)cGt>cAt p.R619H WDR65_ENST00000528956.1_Missense_Mutation_p.R619H NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 619 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGAACCATTCGTGCCATGAAG 0.552000 38 61 0 0 1 0 0 GRAP 10750 broad.mit.edu 37 17 18927576 18927576 + Silent SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr17:18927576G>A ENST00000284154.5 - 4 1130 c.420C>T c.(418-420)atC>atT p.I140I GRAP_ENST00000573099.1_Intron|GRAP_ENST00000395635.1_Silent_p.I111I NM_006613.3 NP_006604.1 Q13588 GRAP_HUMAN GRB2-related adaptor protein 140 SH2. cell-cell signaling|Ras protein signal transduction cytoplasm SH3/SH2 adaptor activity large_intestine(1)|urinary_tract(1) 2 all_cancers(12;0.0183) GCTTCTTGGCGATGGTGGTGG 0.622000 6 17 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50939931 50939931 + Missense_Mutation SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr19:50939931C>T ENST00000357701.5 + 5 454 c.403C>T c.(403-405)Cgc>Tgc p.R135C NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 135 Ig-like C2-type 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) TGGGTATTACCGCCTCGAGGT 0.612000 42 146 0 0 1 0 0 ACTN4 81 broad.mit.edu 37 19 39212280 39212280 + Missense_Mutation SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr19:39212280C>T ENST00000252699.2 + 12 1470 c.1394C>T c.(1393-1395)gCg>gTg p.A465V ACTN4_ENST00000390009.3_Missense_Mutation_p.A246V|ACTN4_ENST00000424234.2_Intron NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 465 platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GACCTGGCTGCGCACCAGGAC 0.617000 29 90 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142658923 142658923 + Missense_Mutation SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr7:142658923G>A ENST00000355265.2 - 2 514 c.40C>T c.(40-42)Cgc>Tgc p.R14C KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 14 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GCCTGGCTGCGTTCCCTCGGC 0.542000 107 346 0 0 1 0 0 DDX26B 203522 broad.mit.edu 37 X 134715064 134715064 + Missense_Mutation SNP G G A rs143980255 TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chrX:134715064G>A ENST00000370752.4 + 16 2807 c.2473G>A c.(2473-2475)Gca>Aca p.A825T DDX26B_ENST00000493637.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 825 large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) CAAGGAAGCCGCAAGGTAGGT 0.383000 5 13 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 98999852 98999852 + Splice_Site SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr2:98999852G>A ENST00000393504.1 + 5 814 c.395_splice c.e5-1 p.A133_splice CNGA3_ENST00000409937.1_Splice_Site_p.A137_splice|CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000272602.2_Splice_Site_p.A133_splice NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 133 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 TTCCCGCAGCGCCTGGCCCCT 0.587000 20 54 0 0 1 0 0 HRH3 11255 broad.mit.edu 37 20 60793682 60793682 + Silent SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr20:60793682G>A ENST00000340177.5 - 2 566 c.282C>T c.(280-282)taC>taT p.Y94Y HRH3_ENST00000317393.6_Silent_p.Y94Y NM_007232.2 NP_009163.2 Q9Y5N1 HRH3_HUMAN histamine receptor H3 94 G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) CTGTCAGCACGTAGGGTACAT 0.632000 14 50 0 0 1 0 0 IGKV1-12 0 broad.mit.edu 37 2 89340006 89340006 + RNA SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr2:89340006G>A ENST00000480492.1 - 0 112 TCTGGATGTCGCATCTGGAAC 0.458000 73 121 0 0 1 0 0 SNRNP200 23020 broad.mit.edu 37 2 96962796 96962796 + Missense_Mutation SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr2:96962796C>T ENST00000323853.5 - 12 1467 c.1390G>A c.(1390-1392)Gtg>Atg p.V464M SNRNP200_ENST00000349783.5_Missense_Mutation_p.V464M NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 464 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 AGCTTTTCCACTGGAAGCAGT 0.483000 28 42 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29664466 29664466 + Missense_Mutation SNP G G C TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr17:29664466G>C ENST00000358273.4 + 43 6891 c.6508G>C c.(6508-6510)Gtc>Ctc p.V2170L NF1_ENST00000356175.3_Missense_Mutation_p.V2149L NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2170 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CATTAGCAAAGTCAAGTCAGC 0.443000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 26 43 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18490301 18490301 + Silent SNP T T C rs142080320 TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr8:18490301T>C ENST00000440756.2 - 11 2340 c.2238A>G c.(2236-2238)aaA>aaG p.K746K PSD3_ENST00000523619.1_Silent_p.K679K|PSD3_ENST00000428502.2_Silent_p.K73K|PSD3_ENST00000286485.8_Silent_p.K210K|PSD3_ENST00000327040.8_Silent_p.K744K Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 745 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) GAGACTTTTTTTTCTCTTCAT 0.358000 21 24 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1025338 1025338 + Silent SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr11:1025338G>A ENST00000421673.2 - 23 2879 c.2829C>T c.(2827-2829)aaC>aaT p.N943N NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 943 VWFD 3. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGACCGTGTAGTTTCTGTCCG 0.677000 54 94 0 0 1 0 0 MORN3 283385 broad.mit.edu 37 12 122091089 122091089 + Silent SNP G G A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr12:122091089G>A ENST00000355329.3 - 4 710 c.540C>T c.(538-540)caC>caT p.H180H NM_173855.4 NP_776254.3 Q6PF18 MORN3_HUMAN MORN repeat containing 3 180 breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145) ACAGCTGGCCGTGGTCCAGAT 0.607000 30 70 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67327473 67327473 + Nonsense_Mutation SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr16:67327473C>T ENST00000304372.5 - 12 2247 c.2192G>A c.(2191-2193)tGg>tAg p.W731* NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 731 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CTGCTTGCTCCAGTCCTTCAG 0.547000 13 158 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37686441 37686441 + Missense_Mutation SNP C C T TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr8:37686441C>T ENST00000315215.7 + 3 737 c.374C>T c.(373-375)cCg>cTg p.P125L GPR124_ENST00000412232.2_Missense_Mutation_p.P125L Q96PE1 GP124_HUMAN G protein-coupled receptor 124 125 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) ACAGTGCAGCCGGGCGCCTTC 0.682000 37 65 0 0 1 0 0 AIFM2 84883 broad.mit.edu 37 10 71883202 71883202 + Missense_Mutation SNP T T C rs140958169 TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr10:71883202T>C ENST00000307864.1 - 3 466 c.253A>G c.(253-255)Ata>Gta p.I85V AIFM2_ENST00000373248.1_Missense_Mutation_p.I85V NM_001198696.1|NM_032797.5 NP_001185625.1|NP_116186.1 Q9BRQ8 AIFM2_HUMAN apoptosis-inducing factor, mitochondrion-associated, 2 85 apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis cytosol|integral to membrane|mitochondrial outer membrane DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2) 16 TTCAGGTCTATCCCCACTACT 0.597000 5 73 0 0 1 0 0 UGT1A4 0 broad.mit.edu 37 2 234627498 234627498 + Missense_Mutation SNP G G A rs149314940 TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr2:234627498G>A ENST00000373409.3 + 1 75 c.32G>A c.(31-33)cGg>cAg p.R11Q UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron NM_007120.2 NP_009051.1 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) CCCCTGCCGCGGCTGGCCACA 0.627000 OREG0003834 type=REGULATORY REGION|Gene=UGT1A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 22 60 0 0 1 0 0 ANKRD36BP2 0 broad.mit.edu 37 2 89102192 89102194 + RNA DEL AAG AAG - TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr2:89102192_89102194delAAG ENST00000393525.3 + 0 2666_2668 GTTTAATAATAAGGTGATTTGTA 0.330 4 7 --- --- --- --- SPEG 10290 broad.mit.edu 37 2 220299748 220299748 + Frame_Shift_Del DEL C C - TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr2:220299748delC ENST00000312358.7 + 1 181 c.49delC c.(49-51)ccfs p.P18fs NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 18 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CACGAGGGCACCCCCCAGCCC 0.766 2 4 --- --- --- --- PWWP2A 114825 broad.mit.edu 37 5 159546021 159546022 + Frame_Shift_Ins INS - - G TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr5:159546021_159546022insG ENST00000456329.3 - 1 408_409 c.374_375insC c.(373-375)cgcfs p.R125fs PWWP2A_ENST00000307063.7_Frame_Shift_Ins_p.R125fs|PWWP2A_ENST00000523662.1_Frame_Shift_Ins_p.R125fs NM_052927.2 NP_443159.1 Q96N64 PWP2A_HUMAN PWWP domain containing 2A 125 Pro-rich. kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCTCGGGAGCCGGGGGCTGCTC 0.748 14 37 --- --- --- --- HEXA 3073 broad.mit.edu 37 15 72638890 72638891 + Frame_Shift_Del DEL TA TA - TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr15:72638890_72638891delTA ENST00000268097.5 - 11 1810_1811 c.1307_1308delTA c.(1306-1308)afs p.I436fs HEXA_ENST00000457859.2_Intron|HEXA_ENST00000429918.2_Frame_Shift_Del_p.I263fs|HEXA_ENST00000566304.1_Frame_Shift_Del_p.I447fs|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Frame_Shift_Del_p.I436fs|RP11-106M3.3_ENST00000570175.1_RNA NM_000520.4 NP_000511.2 P06865 HEXA_HUMAN hexosaminidase A (alpha polypeptide) 436 I -> V (in dbSNP:rs1800431). cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 GGGGTTCCACTATGTAGAAATC 0.579 9 257 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29483060 29483064 + Frame_Shift_Del DEL GGAAT GGAAT - TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr17:29483060_29483064delGGAAT ENST00000358273.4 + 2 503_507 c.120_124delGGAAT c.(118-126)aagtfs p.KEC40fs NF1_ENST00000356175.3_Frame_Shift_Del_p.KEC40fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.KEC40fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 40 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGCACAACAAGGAATGTCTAATCAA 0.332 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 13 32 --- --- --- --- KANSL1 284058 broad.mit.edu 37 17 44110778 44110780 + In_Frame_Del DEL CTC CTC - TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr17:44110778_44110780delCTC ENST00000262419.6 - 12 3183_3185 c.2713_2715delGAG c.(2713-2715)del p.E905del KANSL1_ENST00000575318.1_In_Frame_Del_p.E841del|KANSL1_ENST00000574590.1_In_Frame_Del_p.E905del|KANSL1_ENST00000572904.1_In_Frame_Del_p.E905del|KANSL1_ENST00000432791.1_In_Frame_Del_p.E905del|KANSL1_ENST00000393476.3_In_Frame_Del_p.E199del NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 905 MLL1 complex protein binding CCTCTTCATTCTCCTCATCAGGA 0.483 19 69 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9a21c24-8e23-47d9-addd-e601b3f2e2c9 b10e61aa-2481-454d-bcfd-308c8fbc82bc g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 2 4 --- --- --- ---