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 PNLDC1 154197 broad.mit.edu 37 6 160237001 160237001 + Splice_Site SNP T T C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr6:160237001T>C ENST00000275275.5 + 13 1134 c.962_splice c.e13-1 p.S321_splice PNLDC1_ENST00000392167.3_Splice_Site_p.S332_splice NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 321 integral to membrane|nucleus nucleic acid binding p.S321S(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TTTCCAATAGTGACTTGAATC 0.378000 5 126 0 0 0.184627 0 0 NKAPL 222698 broad.mit.edu 37 6 28227392 28227392 + Silent SNP C C T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr6:28227392C>T ENST00000343684.3 + 1 295 c.243C>T c.(241-243)taC>taT p.Y81Y NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 81 p.Y81Y(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 TCCGCAACTACGCCTTCGCGT 0.587000 39 80 0 0 0.804634 0 0 GOLM1 51280 broad.mit.edu 37 9 88650293 88650293 + Silent SNP A A G TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr9:88650293A>G ENST00000388712.3 - 8 1173 c.1005T>C c.(1003-1005)gcT>gcC p.A335A GOLM1_ENST00000388711.3_Silent_p.A335A NM_016548.3 NP_057632.2 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 335 Golgi apparatus|integral to plasma membrane p.A335A(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 CTTCCCCGGCAGCTTCCTGCT 0.622000 OREG0019278 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 180 0 0 0.217242 0 0 PCDHGA2 0 broad.mit.edu 37 5 140719143 140719143 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr5:140719143G>A ENST00000394576.2 + 1 605 c.605G>A c.(604-606)cGc>cAc p.R202H PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 p.R202H(2) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTCTGGACCGCGAGGAAGAG 0.592000 7 129 0 0 0.278610 0 0 S1PR2 9294 broad.mit.edu 37 19 10335297 10335297 + Silent SNP A A T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr19:10335297A>T ENST00000590320.1 - 2 395 c.285T>A c.(283-285)tcT>tcA p.S95S NM_004230.3 NP_004221.3 O95136 S1PR2_HUMAN sphingosine-1-phosphate receptor 2 95 activation of MAPK activity|positive regulation of cell proliferation integral to membrane|plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity p.S95S(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 TCAGCGTGACAGAGCCAGAGA 0.612000 9 42 0 0 0.411799 0 0 SRD5A3 79644 broad.mit.edu 37 4 56225643 56225643 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr4:56225643G>A ENST00000264228.4 + 2 580 c.352G>A c.(352-354)Gca>Aca p.A118T SRD5A3_ENST00000514398.1_3'UTR NM_024592.4 NP_078868.1 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 118 androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) TCTCGGGGCGGCACAGTTCCA 0.522000 4 244 0 0 0.150653 0 0 BRPF1 7862 broad.mit.edu 37 3 9788936 9788936 + Missense_Mutation SNP A A G TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr3:9788936A>G ENST00000383829.2 + 14 3970 c.3566A>G c.(3565-3567)aAc>aGc p.N1189S BRPF1_ENST00000457855.1_Missense_Mutation_p.N1183S|BRPF1_ENST00000302054.3_Missense_Mutation_p.N1183S|BRPF1_ENST00000424362.1_Missense_Mutation_p.N1182S|BRPF1_ENST00000433861.2_Missense_Mutation_p.N1088S NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 1183 histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding p.N1189S(1) central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) CGCAAGTCCAACATCCGCAAG 0.567000 28 124 0 0 0.788014 0 0 CSMD3 114788 broad.mit.edu 37 8 113657357 113657357 + Silent SNP A A T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr8:113657357A>T ENST00000297405.5 - 20 3535 c.3291T>A c.(3289-3291)gtT>gtA p.V1097V CSMD3_ENST00000455883.2_Silent_p.V993V|CSMD3_ENST00000343508.3_Silent_p.V1057V|CSMD3_ENST00000352409.3_Silent_p.V1097V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1097 CUB 6. integral to membrane|plasma membrane p.V1097V(2)|p.V1057V(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GGGTTACATCAACAGTCCATG 0.363000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 112 0 0 0.150653 0 0 ENGASE 64772 broad.mit.edu 37 17 77073870 77073870 + Missense_Mutation SNP C C T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr17:77073870C>T ENST00000579016.1 + 3 340 c.340C>T c.(340-342)Cgc>Tgc p.R114C ENGASE_ENST00000539857.2_5'UTR NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 114 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity p.R114C(1) breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 CCTGGCGTGTCGCCAGCCCCC 0.582000 44 69 0 0 0.834066 0 0 FAM171A1 221061 broad.mit.edu 37 10 15317865 15317865 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr10:15317865G>A ENST00000378116.4 - 3 413 c.407C>T c.(406-408)tCa>tTa p.S136L NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 136 integral to membrane p.S136L(2) breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 TTGGAATCCTGATACTATTTG 0.343000 19 92 0 0 0.557998 0 0 GH2 2689 broad.mit.edu 37 17 61958402 61958402 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr17:61958402G>A ENST00000332800.7 - 3 411 c.278C>T c.(277-279)aCg>aTg p.T93M GH2_ENST00000449787.2_Missense_Mutation_p.T78M|GH2_ENST00000423893.2_Missense_Mutation_p.T93M|GH2_ENST00000456543.2_Missense_Mutation_p.T93M NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 93 extracellular region hormone activity p.T93M(6) breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 TTTCTGCTGCGTTTTCACCCT 0.572000 82 364 0 0 0.870114 0 0 RALGAPB 57148 broad.mit.edu 37 20 37144919 37144919 + Silent SNP G G A rs146906566 TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr20:37144919G>A ENST00000262879.6 + 7 1241 c.957G>A c.(955-957)ccG>ccA p.P319P RALGAPB_ENST00000397040.1_Silent_p.P319P|RALGAPB_ENST00000397042.3_Silent_p.P319P|RALGAPB_ENST00000397038.1_Silent_p.P97P|RALGAPB_ENST00000537204.1_Silent_p.P319P Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 319 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 GCGGAATGCCGCAAGAATTGA 0.413000 5 434 0 0 0.184627 0 0 DMXL1 1657 broad.mit.edu 37 5 118486030 118486030 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr5:118486030G>A ENST00000311085.8 + 18 4588 c.4508G>A c.(4507-4509)cGg>cAg p.R1503Q DMXL1_ENST00000539542.1_Missense_Mutation_p.R1503Q NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1503 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GGACTCAGCCGGATGGAGCAG 0.448000 5 474 0 0 0.184627 0 0 RFX6 222546 broad.mit.edu 37 6 117243256 117243256 + Missense_Mutation SNP C C T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr6:117243256C>T ENST00000332958.2 + 13 1395 c.1379C>T c.(1378-1380)gCc>gTc p.A460V NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 460 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 AAGAAGAATGCCACTGTGGAG 0.333000 4 195 0 0 0.217242 0 0 NCOA4 8031 broad.mit.edu 37 10 51584846 51584846 + Silent SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr10:51584846G>A ENST00000452682.1 + 9 1245 c.993G>A c.(991-993)cgG>cgA p.R331R NCOA4_ENST00000374082.1_Silent_p.R315R|NCOA4_ENST00000443446.1_Silent_p.R315R|NCOA4_ENST00000438493.1_Silent_p.R331R|NCOA4_ENST00000344348.6_Silent_p.R315R|NCOA4_ENST00000430396.2_Silent_p.R215R|NCOA4_ENST00000374087.4_Silent_p.R315R|NCOA4_ENST00000414907.2_Silent_p.R149R NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 315 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity p.R331R(1) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 ATAAGCTGCGGAAGCCTGAGA 0.453000 T RET papillary thyroid 6 164 0 0 0.248553 0 0 LILRA3 0 broad.mit.edu 37 19 54803046 54803046 + Missense_Mutation SNP G G C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr19:54803046G>C ENST00000391745.1 - 8 998 c.682C>G c.(682-684)Ccc>Gcc p.P228A LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Missense_Mutation_p.P211A leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 p.P211A(1) NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AGATCACTGGGTAGAGACCAC 0.617000 4 77 0 0 0.150653 0 0 NFE2L3 9603 broad.mit.edu 37 7 26224957 26224957 + Missense_Mutation SNP A A T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr7:26224957A>T ENST00000056233.3 + 4 1898 c.1639A>T c.(1639-1641)Atc>Ttc p.I547F NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 547 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.I547F(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 AGCTTTGCATATCCCTTTTTC 0.413000 5 268 0 0 0.248553 0 0 EFCAB6 64800 broad.mit.edu 37 22 44022442 44022442 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr22:44022442G>A ENST00000262726.7 - 20 2603 c.2350C>T c.(2350-2352)Cgc>Tgc p.R784C EFCAB6_ENST00000396231.2_Missense_Mutation_p.R632C NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 784 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding p.R784C(1) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) CCAAGGAAGCGCTCAAACTCG 0.438000 30 128 0 0 0.729181 0 0 REG1A 5967 broad.mit.edu 37 2 79349167 79349167 + Silent SNP C C T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr2:79349167C>T ENST00000233735.1 + 4 340 c.237C>T c.(235-237)gcC>gcT p.A79A NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 79 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding p.A79A(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 TCACCCAGGCCGAGGGTGCCT 0.527000 73 115 0 0 0.870114 0 0 RBFOX1 54715 broad.mit.edu 37 16 7657342 7657342 + Splice_Site SNP T T G TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr16:7657342T>G ENST00000340209.4 + 7 988 c.e7+2 RBFOX1_ENST00000422070.4_Splice_Site|RBFOX1_ENST00000535565.2_Splice_Site|RBFOX1_ENST00000553186.1_Splice_Site|RBFOX1_ENST00000436368.2_Splice_Site|RBFOX1_ENST00000552089.1_Splice_Site|RBFOX1_ENST00000547338.1_Splice_Site|RBFOX1_ENST00000547372.1_Splice_Site|RBFOX1_ENST00000550418.1_Splice_Site|RBFOX1_ENST00000355637.4_Splice_Site|RBFOX1_ENST00000311745.5_Splice_Site Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding p.?(2) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 TCTATGCAGGTACAGAGTTTC 0.368000 31 187 0 0 0.779181 0 0 MAGEC3 139081 broad.mit.edu 37 X 140985038 140985038 + Silent SNP C C T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chrX:140985038C>T ENST00000298296.1 + 7 1494 c.1494C>T c.(1492-1494)ttC>ttT p.F498F MAGEC3_ENST00000536088.1_Silent_p.F200F|MAGEC3_ENST00000443323.2_Silent_p.F120F|MAGEC3_ENST00000544766.1_Silent_p.F200F|MAGEC3_ENST00000409007.1_Silent_p.F200F NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 498 MAGE 2. p.F498F(1)|p.F200F(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) CCATGATCTTCGGGAAAGCCC 0.423000 10 180 0 0 0.387290 0 0 GSTA2 2939 broad.mit.edu 37 6 52616466 52616466 + Missense_Mutation SNP T T A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr6:52616466T>A ENST00000493422.1 - 6 610 c.455A>T c.(454-456)aAg>aTg p.K152M NM_000846.4 NP_000837.3 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 152 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity p.K152M(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) CCGGCTCAGCTTGTTGCCAAC 0.532000 63 146 0 0 0.870114 0 0 CORIN 10699 broad.mit.edu 37 4 47667239 47667239 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr4:47667239G>A ENST00000273857.4 - 11 1398 c.1399C>T c.(1399-1401)Ccc>Tcc p.P467S CORIN_ENST00000508498.1_Missense_Mutation_p.P328S|CORIN_ENST00000504584.1_Missense_Mutation_p.P430S|CORIN_ENST00000505909.1_Missense_Mutation_p.P430S|CORIN_ENST00000502252.1_Missense_Mutation_p.P400S NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 467 FZ 2. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity p.P467T(1) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 CTGTTGTAGGGCAAATTCATG 0.353000 4 207 0 0 0.150653 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125521571 125521571 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr2:125521571G>A ENST00000431078.1 + 16 2741 c.2377G>A c.(2377-2379)Gtc>Atc p.V793I NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 793 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding p.V793I(2) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CTGGAACGCCGTCTCATTTTA 0.428000 69 118 0 0 0.870114 0 0 RLIM 51132 broad.mit.edu 37 X 73811938 73811938 + Silent SNP G G C rs61754468 by1000genomes TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chrX:73811938G>C ENST00000332687.6 - 4 1430 c.1212C>G c.(1210-1212)acC>acG p.T404T RLIM_ENST00000349225.2_Silent_p.T404T NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 404 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.T404T(6) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCTTAACATGGTCTGAATTG 0.413000 5 148 0 0 0.184627 0 0 RASA4 10156 broad.mit.edu 37 7 102236573 102236573 + Silent SNP G G T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr7:102236573G>T ENST00000262940.7 - 9 808 c.741C>A c.(739-741)ggC>ggA p.G247G RASA4_ENST00000461209.1_Silent_p.G175G|RASA4_ENST00000462172.1_Silent_p.G175G|RP11-514P8.6_ENST00000519541.1_3'UTR|RASA4_ENST00000449970.2_Silent_p.G247G NM_006989.5 NP_008920.5 O43374 RASL2_HUMAN RAS p21 protein activator 4 247 intracellular signal transduction|negative regulation of Ras protein signal transduction cytosol|intrinsic to internal side of plasma membrane metal ion binding|Ras GTPase activator activity p.G247G(3) lung(1)|prostate(1)|urinary_tract(1) 3 AGCCCAGGTTGCCCCTGGAAT 0.657000 7 21 9.70103e-10 1.06932e-09 0.361761 1 0 SIM1 6492 broad.mit.edu 37 6 100841663 100841663 + Missense_Mutation SNP C C T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr6:100841663C>T ENST00000369208.3 - 11 2052 c.1270G>A c.(1270-1272)Gat>Aat p.D424N SIM1_ENST00000262901.4_Missense_Mutation_p.D424N P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 424 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.D424N(1) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CCAGGCCTATCGGCGGGGTCC 0.597000 30 55 0 0 0.847076 0 0 VAV3 10451 broad.mit.edu 37 1 108247662 108247662 + Silent SNP A A G TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr1:108247662A>G ENST00000370056.4 - 16 1798 c.1524T>C c.(1522-1524)taT>taC p.Y508Y VAV3_ENST00000371846.4_Silent_p.Y443Y|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.Y508Y NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 508 angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity p.Y508Y(2)|p.Y508*(1) NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TGGAGTCTGCATAGTCTGGTC 0.403000 3 133 0 0 0.115264 0 0 NCOA4 8031 broad.mit.edu 37 10 51584845 51584845 + Missense_Mutation SNP G G A rs144343467 TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr10:51584845G>A ENST00000452682.1 + 9 1244 c.992G>A c.(991-993)cGg>cAg p.R331Q NCOA4_ENST00000374082.1_Missense_Mutation_p.R315Q|NCOA4_ENST00000443446.1_Missense_Mutation_p.R315Q|NCOA4_ENST00000438493.1_Missense_Mutation_p.R331Q|NCOA4_ENST00000344348.6_Missense_Mutation_p.R315Q|NCOA4_ENST00000430396.2_Missense_Mutation_p.R215Q|NCOA4_ENST00000374087.4_Missense_Mutation_p.R315Q|NCOA4_ENST00000414907.2_Missense_Mutation_p.R149Q NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 315 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity p.R331Q(1) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 CATAAGCTGCGGAAGCCTGAG 0.453000 T RET papillary thyroid 6 165 0 0 0.248553 0 0 PLCH2 9651 broad.mit.edu 37 1 2411659 2411659 + Missense_Mutation SNP G G T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr1:2411659G>T ENST00000449969.1 + 4 633 c.472G>T c.(472-474)Ggg>Tgg p.G158W PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.G185W|PLCH2_ENST00000419816.2_Missense_Mutation_p.G185W|PLCH2_ENST00000378486.3_Missense_Mutation_p.G185W|PLCH2_ENST00000288766.5_Intron O75038 PLCH2_HUMAN phospholipase C, eta 2 185 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.G185W(1)|p.G32W(1) central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CGACAAGAACGGGGATGGCAG 0.617000 36 100 1.49673e-21 1.70804e-21 0.819951 1 0 P4HA2 8974 broad.mit.edu 37 5 131531126 131531126 + Silent SNP C C A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr5:131531126C>A ENST00000401867.1 - 14 1987 c.1419G>T c.(1417-1419)ggG>ggT p.G473G P4HA2_ENST00000379086.1_Silent_p.G471G|P4HA2_ENST00000379100.2_Silent_p.G471G|P4HA2_ENST00000379104.2_Silent_p.G473G|P4HA2_ENST00000360568.3_Silent_p.G471G|P4HA2_ENST00000166534.4_Silent_p.G473G O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha polypeptide II 473 Fe2OG dioxygenase. endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding p.G473G(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) AAATTGCAGCCCCCAGATCAG 0.493000 32 79 3.3946e-10 3.78478e-10 0.812448 1 0 NANOGP1 0 broad.mit.edu 37 12 8051389 8051389 + RNA SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr12:8051389G>A ENST00000607111.1 + 0 609 p.A197T(1) kidney(1)|lung(4)|prostate(1) 6 CTTGGAAGCTGCTGGGGAAGG 0.463000 90 116 0 0 0.870114 0 0 B3GALT5 10317 broad.mit.edu 37 21 41032741 41032741 + Missense_Mutation SNP G G C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr21:41032741G>C ENST00000380620.3 + 5 847 c.255G>C c.(253-255)atG>atC p.M85I B3GALT5_ENST00000398714.2_Missense_Mutation_p.M85I|B3GALT5_ENST00000380618.1_Missense_Mutation_p.M85I|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.M85I Q9Y2C3 B3GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 85 M -> T (in dbSNP:rs3746887). protein glycosylation endoplasmic reticulum|Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity p.M85I(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 16 Prostate(19;2.55e-06) AAGAGAGGATGGTGAAGGGAA 0.602000 4 101 0 0 0.150653 0 0 SPHKAP 80309 broad.mit.edu 37 2 228858269 228858269 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr2:228858269G>A ENST00000392056.3 - 9 4748 c.4702C>T c.(4702-4704)Cca>Tca p.P1568S SPHKAP_ENST00000344657.5_Intron NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1568 cytoplasm protein binding p.P1568S(1) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGAGAAGATGGCATGCTTTCC 0.423000 6 14 0 0 0.278610 0 0 TCOF1 6949 broad.mit.edu 37 5 149755319 149755319 + Silent SNP C C T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr5:149755319C>T ENST00000451292.1 + 12 1848 c.1740C>T c.(1738-1740)ccC>ccT p.P580P TCOF1_ENST00000377797.3_Silent_p.P580P|TCOF1_ENST00000394269.3_Silent_p.P580P|TCOF1_ENST00000504761.2_Silent_p.P580P|TCOF1_ENST00000445265.2_Silent_p.P503P|TCOF1_ENST00000513346.1_Silent_p.P580P|TCOF1_ENST00000323668.7_Silent_p.P503P|TCOF1_ENST00000439160.2_Silent_p.P580P Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 580 skeletal system development nucleolus protein binding|transporter activity p.P580P(1)|p.P503P(1) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGCCAAACCCACCTCCAGTC 0.587000 51 146 0 0 0.870114 0 0 PIWIL1 9271 broad.mit.edu 37 12 130845793 130845793 + Missense_Mutation SNP T T G TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr12:130845793T>G ENST00000245255.3 + 15 2006 c.1734T>G c.(1732-1734)gaT>gaG p.D578E NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 578 Piwi.|RNA-binding (By similarity). gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding p.D578E(1) breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) TGTGTACAGATTGCCCTACCC 0.433000 30 76 0 0 0.717897 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 6 114 0 0 0.361761 0 0 PSG3 5671 broad.mit.edu 37 19 43233960 43233960 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr19:43233960G>A ENST00000327495.5 - 4 1142 c.958C>T c.(958-960)Cgc>Tgc p.R320C PSG3_ENST00000595140.1_Missense_Mutation_p.R320C NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 320 Ig-like C2-type 2. defense response|female pregnancy extracellular region p.R320C(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GGGTAACTGCGGATGCCACCA 0.488000 7 293 0 0 0.248553 0 0 TBC1D2 55357 broad.mit.edu 37 9 100971252 100971252 + Silent SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr9:100971252G>A ENST00000375066.5 - 9 1939 c.1848C>T c.(1846-1848)gcC>gcT p.A616A TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000342112.5_Silent_p.A398A|TBC1D2_ENST00000375063.1_Silent_p.A156A|TBC1D2_ENST00000375064.1_Silent_p.A616A NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 616 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity p.A616A(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) GCTTGAGCTCGGCTGAGGGCA 0.667000 5 147 0 0 0.184627 0 0 OR6N2 81442 broad.mit.edu 37 1 158746645 158746645 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr1:158746645G>A ENST00000339258.1 - 1 780 c.781C>T c.(781-783)Cgg>Tgg p.R261W NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) TTCTTTAGCCGCACATACATG 0.433000 4 156 0 0 0.150653 0 0 MT-RNR2 0 broad.mit.edu 37 MT 2817 2817 + RNA SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chrM:2817G>A ENST00000387347.2 + 0 1147 NR_039705.1 ATTTCGGTTGGGGCGACCTCG 0.433000 8 4 0 0 0.307466 0 0 SORBS2 8470 broad.mit.edu 37 4 186545236 186545236 + Missense_Mutation SNP G G T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr4:186545236G>T ENST00000431808.1 - 14 1898 c.1335C>A c.(1333-1335)aaC>aaA p.N445K SORBS2_ENST00000284776.7_Missense_Mutation_p.N445K|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.N349K|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.N545K|SORBS2_ENST00000319471.9_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 445 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ACCCCGGGGCGTTGCGGGCTG 0.592000 4 163 0.150653 0.157133 0.150653 1 0 TMC7 79905 broad.mit.edu 37 16 19041572 19041572 + Silent SNP T T C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr16:19041572T>C ENST00000421369.3 + 6 966 c.408T>C c.(406-408)ttT>ttC p.F136F TMC7_ENST00000304381.5_Silent_p.F246F|TMC7_ENST00000569532.1_Silent_p.F246F NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 246 integral to membrane p.F246F(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 CTAGCCTCTTTTACGGACATT 0.507000 7 283 0 0 0.307466 0 0 RP11-295K3.1 0 broad.mit.edu 37 11 1776178 1776178 + Nonstop_Mutation SNP A A G TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr11:1776178A>G ENST00000427721.1 - 3 396 c.397T>C c.(397-399)Tga>Cga p.*133R CTSD_ENST00000236671.2_Missense_Mutation_p.L262P GGTGACATTCAGGTAGGACAG 0.622000 3 133 0 0 0.150653 0 0 SERPINE1 5054 broad.mit.edu 37 7 100780352 100780352 + Silent SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr7:100780352G>A ENST00000223095.4 + 8 1315 c.1158G>A c.(1156-1158)cgG>cgA p.R386R SERPINE1_ENST00000445463.2_Silent_p.R371R NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 386 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity p.R386R(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) TTGTGGTCCGGCACAACCCCA 0.542000 4 189 0 0 0.184627 0 0 ANLN 54443 broad.mit.edu 37 7 36435954 36435954 + Missense_Mutation SNP C C G TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr7:36435954C>G ENST00000265748.2 + 2 319 c.98C>G c.(97-99)tCt>tGt p.S33C ANLN_ENST00000396068.2_Missense_Mutation_p.S33C NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 33 Interaction with CD2AP.|Nuclear localization.|Required for ubiquitination. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding p.S33C(1) breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 GCTCCAAGGTCTATGACTCAT 0.473000 42 77 0 0 0.847076 0 0 DIDO1 11083 broad.mit.edu 37 20 61525227 61525227 + Silent SNP G G A rs111520535 byFrequency TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr20:61525227G>A ENST00000266070.4 - 12 3217 c.2892C>T c.(2890-2892)tcC>tcT p.S964S DIDO1_ENST00000395335.2_Silent_p.S964S|DIDO1_ENST00000395343.1_Silent_p.S964S|DIDO1_ENST00000395340.1_Silent_p.S964S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 964 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.S964S(1) NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GGTCCCGGCCGGACACTGTGA 0.687000 4 138 0 0 0.150653 0 0 SOX17 64321 broad.mit.edu 37 8 55371662 55371662 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr8:55371662G>A ENST00000297316.4 + 2 556 c.352G>A c.(352-354)Gtg>Atg p.V118M NM_022454.3 NP_071899.1 Q9H6I2 SOX17_HUMAN SRY (sex determining region Y)-box 17 118 angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding p.V118M(1) endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1) 18 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) GCGGCCCTTCGTGGAGGAGGC 0.687000 4 7 0 0 0.217242 0 0 XAF1 54739 broad.mit.edu 37 17 6673970 6673970 + Silent SNP T T C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr17:6673970T>C ENST00000361842.3 + 6 755 c.516T>C c.(514-516)tgT>tgC p.C172C XAF1_ENST00000441631.1_Silent_p.C172C|XAF1_ENST00000346752.4_Silent_p.C153C NM_017523.3 NP_059993.2 Q6GPH4 XAF1_HUMAN XIAP associated factor 1 172 apoptosis|type I interferon-mediated signaling pathway mitochondrion|nucleus zinc ion binding p.C172C(1) large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 6 AGGGTAAATGTTGTCCAGACT 0.348000 7 187 0 0 0.248553 0 0 PHTF2 57157 broad.mit.edu 37 7 77469597 77469597 + Missense_Mutation SNP A A G TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr7:77469597A>G ENST00000416283.2 + 1 151 c.25A>G c.(25-27)Ata>Gta p.I9V PHTF2_ENST00000422959.2_Missense_Mutation_p.I9V|PHTF2_ENST00000275575.7_Missense_Mutation_p.I9V|PHTF2_ENST00000450574.1_Missense_Mutation_p.I9V|PHTF2_ENST00000415251.2_Missense_Mutation_p.I9V|PHTF2_ENST00000248550.7_Missense_Mutation_p.I9V|PHTF2_ENST00000424760.1_Missense_Mutation_p.I9V|PHTF2_ENST00000307305.8_Missense_Mutation_p.I9V NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 9 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding p.I9V(2) endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 CACAGATGCTATAGTCTGGTA 0.318000 73 125 0 0 0.870114 0 0 LATS2 26524 broad.mit.edu 37 13 21557700 21557700 + Silent SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr13:21557700G>A ENST00000382592.4 - 5 2550 c.2145C>T c.(2143-2145)gcC>gcT p.A715A LATS2_ENST00000542899.1_Silent_p.A715A NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 715 Protein kinase. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.A715A(2) breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) TGTCCCTCTCGGCCTTGACGT 0.532000 11 332 0 0 0.387290 0 0 RTN4RL1 146760 broad.mit.edu 37 17 1840948 1840948 + Silent SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr17:1840948G>A ENST00000331238.5 - 2 186 c.168C>T c.(166-168)agC>agT p.S56S NM_178568.2 NP_848663.1 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 56 axon regeneration anchored to plasma membrane receptor activity p.S56S(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 AGACGCGCTCGCTGTCCACGG 0.652000 4 54 0 0 0.150653 0 0 RANBP17 64901 broad.mit.edu 37 5 170395294 170395294 + Missense_Mutation SNP T T G TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr5:170395294T>G ENST00000523189.1 + 14 1787 c.1623T>G c.(1621-1623)tgT>tgG p.C541W NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 541 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity p.C541W(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTCGATGTTGTAATGAGAAAA 0.343000 T TRD@ ALL 17 187 0 0 0.500413 0 0 KIF12 113220 broad.mit.edu 37 9 116858374 116858374 + Silent SNP C C A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr9:116858374C>A ENST00000374118.3 - 6 675 c.438G>T c.(436-438)ctG>ctT p.L146L KIF12_ENST00000473174.1_Intron NM_138424.1 NP_612433.1 Q96FN5 KIF12_HUMAN kinesin family member 12 279 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.L146L(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 CCTCAAGCATCAGCTCCCCAC 0.622000 33 147 1.69901e-12 1.91633e-12 0.812448 1 0 PRPF8 10594 broad.mit.edu 37 17 1559946 1559946 + Missense_Mutation SNP A A C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr17:1559946A>C ENST00000572621.1 - 34 5880 c.5615T>G c.(5614-5616)cTg>cGg p.L1872R PRPF8_ENST00000304992.6_Missense_Mutation_p.L1872R Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1872 Involved in interaction with pre-mRNA 5' splice site. catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding p.L1872R(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TCTTACCTCCAGTGGGTCCAG 0.552000 24 40 0 0 0.667858 0 0 MSH6 2956 broad.mit.edu 37 2 48026269 48026269 + Missense_Mutation SNP A A G rs63751304 TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr2:48026269A>G ENST00000234420.4 + 4 1299 c.1147A>G c.(1147-1149)Agg>Ggg p.R383G MSH6_ENST00000540021.1_Missense_Mutation_p.R253G|MSH6_ENST00000538136.1_Missense_Mutation_p.R81G|FBXO11_ENST00000405808.1_Intron NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 383 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.R383G(2)|p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AGATGAGCACAGGAGGAGGCC 0.478000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 47 110 0 0 0.864702 0 0 HIBADH 11112 broad.mit.edu 37 7 27565971 27565971 + Silent SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr7:27565971G>A ENST00000265395.2 - 8 1079 c.873C>T c.(871-873)gaC>gaT p.D291D NM_152740.3 NP_689953.1 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase 291 branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process mitochondrial matrix 3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity p.D291D(1) endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1) 12 GBM - Glioblastoma multiforme(3;0.0368) NADH(DB00157) TGGTAGCAGAGTCTTGTGCCA 0.468000 13 45 0 0 0.457914 0 0 TRMT10A 93587 broad.mit.edu 37 4 100477359 100477359 + Missense_Mutation SNP C C T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr4:100477359C>T ENST00000273962.3 - 5 751 c.439G>A c.(439-441)Gga>Aga p.G147R TRMT10A_ENST00000394876.2_Missense_Mutation_p.G147R|TRMT10A_ENST00000394877.3_Missense_Mutation_p.G147R NM_152292.4 NP_689505.1 tRNA methyltransferase 10 homolog A (S. cerevisiae) p.G147R(1) AGCTGGCCTCCGTGGCTTGTC 0.313000 6 102 0 0 0.278610 0 0 OR10G8 219869 broad.mit.edu 37 11 123900990 123900990 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr11:123900990G>A ENST00000431524.1 + 1 694 c.661G>A c.(661-663)Gtc>Atc p.V221I NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V221I(1) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 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;0.0521) TGTGTCCATCGTCTGTTCCAT 0.542000 11 183 0 0 0.387290 0 0 MT-ND1 4535 broad.mit.edu 37 MT 3526 3526 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chrM:3526G>A ENST00000361390.2 + 1 220 c.220G>A c.(220-222)Gcc>Acc p.74_74insT mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 TCTACATCACCGCCCCGACCT 0.542000 6 19 0 0 0.307466 0 0 ADAM9 8754 broad.mit.edu 37 8 38899534 38899534 + Missense_Mutation SNP C C A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr8:38899534C>A ENST00000487273.2 + 12 1278 c.1200C>A c.(1198-1200)aaC>aaA p.N400K NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 400 Peptidase M12B. activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding p.N400K(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) AAGGAGGAAACTGCCTTCTTA 0.408000 7 121 2.0095e-06 2.19013e-06 0.248553 1 0 HMGCR 3156 broad.mit.edu 37 5 74647329 74647329 + Missense_Mutation SNP G G A rs146188615 TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr5:74647329G>A ENST00000287936.4 + 11 1426 c.1270G>A c.(1270-1272)Gat>Aat p.D424N HMGCR_ENST00000511206.1_Missense_Mutation_p.D424N|HMGCR_ENST00000343975.5_Missense_Mutation_p.D424N NM_000859.2 NP_000850.1 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-CoA reductase 424 Linker. cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) CTCCTTACTCGATACTTCATC 0.428000 4 230 0 0 0.184627 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170939 207170939 + Missense_Mutation SNP C C T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr2:207170939C>T ENST00000374423.3 + 5 2073 c.1687C>T c.(1687-1689)Cgg>Tgg p.R563W NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 563 nucleic acid binding|zinc ion binding p.R563W(2) endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AACAAAACTTCGGAAGAAGGC 0.438000 27 47 0 0 0.693898 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 5 23 0 0 0.217242 0 0 MICAL1 64780 broad.mit.edu 37 6 109766662 109766662 + Missense_Mutation SNP C C T rs141002248 TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr6:109766662C>T ENST00000368952.4 - 21 3091 c.2801G>A c.(2800-2802)cGc>cAc p.R934H MICAL1_ENST00000358807.3_Missense_Mutation_p.R915H|MICAL1_ENST00000358577.3_Missense_Mutation_p.R829H Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 915 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) CTTCGCACGGCGCAGCAGAGT 0.562000 4 232 0 0 0.150653 0 0 SLITRK3 22865 broad.mit.edu 37 3 164908014 164908014 + Missense_Mutation SNP T T C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr3:164908014T>C ENST00000475390.1 - 2 1048 c.605A>G c.(604-606)gAc>gGc p.D202G SLITRK3_ENST00000241274.3_Missense_Mutation_p.D202G O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 202 integral to membrane p.D202G(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TCCACGTAGGTCCAAATGGGT 0.408000 HNSCC(40;0.11) 56 117 0 0 0.870114 0 0 SSB 6741 broad.mit.edu 37 2 170663358 170663358 + Missense_Mutation SNP G G T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr2:170663358G>T ENST00000409333.1 + 5 656 c.409G>T c.(409-411)Gta>Tta p.V137L SSB_ENST00000260956.4_Missense_Mutation_p.V137L P05455 LA_HUMAN Sjogren syndrome antigen B (autoantigen La) 137 RRM. histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding p.V137L(1) endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TAAAGGTCAAGTACTAAATAT 0.299000 5 165 0.000602214 0.000649053 0.184627 1 0 SLC5A2 6524 broad.mit.edu 37 16 31499068 31499068 + Nonsense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr16:31499068G>A ENST00000330498.3 + 7 892 c.873G>A c.(871-873)tgG>tgA p.W291* AC026471.6_ENST00000565137.1_RNA NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 291 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity p.W291*(1) endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 GCTGGTACTGGTGCAGCGACC 0.721000 10 33 0 0 0.361761 0 0 PROM2 150696 broad.mit.edu 37 2 95944760 95944760 + Missense_Mutation SNP C C A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr2:95944760C>A ENST00000317620.9 + 10 1275 c.1142C>A c.(1141-1143)cCg>cAg p.P381Q PROM2_ENST00000403131.2_Missense_Mutation_p.P381Q|PROM2_ENST00000317668.4_Missense_Mutation_p.P381Q|PROM2_ENST00000542147.1_Missense_Mutation_p.P381Q NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 381 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane p.P381Q(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 GCCCAGCAGCCGGAAGGGGTG 0.662000 3 99 0.115264 0.121528 0.115264 1 0 FNIP1 96459 broad.mit.edu 37 5 131034664 131034664 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr5:131034664G>A ENST00000307968.7 - 10 1063 c.1064C>T c.(1063-1065)gCc>gTc p.A355V FNIP1_ENST00000510461.1_Missense_Mutation_p.A383V|FNIP1_ENST00000307954.8_Missense_Mutation_p.A338V|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.A383V NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 p.A383V(1) NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TCTCTGACTGGCATCAGCTGA 0.353000 7 239 0 0 0.307466 0 0 FGD4 121512 broad.mit.edu 37 12 32764089 32764089 + Silent SNP T T C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr12:32764089T>C ENST00000427716.2 + 10 1634 c.1210T>C c.(1210-1212)Tta>Cta p.L404L FGD4_ENST00000546442.1_Silent_p.L311L|FGD4_ENST00000534526.2_Silent_p.L541L|FGD4_ENST00000525053.1_Silent_p.L516L|FGD4_ENST00000381025.3_Silent_p.L156L|FGD4_ENST00000531134.1_Silent_p.L489L|FGD4_ENST00000266482.3_Silent_p.L156L NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 404 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.L404L(2) breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) AAAGAAACTCTTAGAGATTTA 0.353000 4 196 0 0 0.184627 0 0 ABCC4 10257 broad.mit.edu 37 13 95862980 95862980 + Missense_Mutation SNP T T C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr13:95862980T>C ENST00000376887.4 - 5 701 c.587A>G c.(586-588)aAt>aGt p.N196S ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.N121S|ABCC4_ENST00000412704.1_Missense_Mutation_p.N196S|ABCC4_ENST00000431522.1_Missense_Mutation_p.N196S NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 196 ABC transmembrane type-1 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity p.N196S(3) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) GGACAGCAGATTGACTATCTG 0.418000 12 86 0 0 0.435327 0 0 TTN 7273 broad.mit.edu 37 2 179472383 179472383 + Missense_Mutation SNP C C T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr2:179472383C>T ENST00000589042.1 - 277 53256 c.53032G>A c.(53032-53034)Gtc>Atc p.V17678I TTN_ENST00000342175.6_Missense_Mutation_p.V8805I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15110I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V8738I|TTN_ENST00000591111.1_Missense_Mutation_p.V16037I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V8613I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16037 Fibronectin type-III 28. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V8613I(2)|p.V15110I(2)|p.V8738I(1)|p.V8805I(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCACCCTTGACAGAAACATCC 0.428000 79 116 0 0 0.870114 0 0 HERC1 8925 broad.mit.edu 37 15 63978653 63978653 + Missense_Mutation SNP G G C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr15:63978653G>C ENST00000443617.2 - 34 6217 c.6130C>G c.(6130-6132)Cta>Gta p.L2044V RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 2044 B30.2/SPRY. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity p.L2044V(3) NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TTCTCCACTAGGCAACACTGA 0.473000 7 439 0 0 0.307466 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382448 41382448 + Nonsense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr5:41382448G>A ENST00000377801.3 - 2 366 c.292C>T c.(292-294)Cga>Tga p.R98* PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.R98* Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 98 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity p.R98*(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GTGGAAATTCGAAGATCAAAA 0.443000 6 186 0 0 0.217242 0 0 MTMR4 9110 broad.mit.edu 37 17 56582201 56582201 + Missense_Mutation SNP C C T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr17:56582201C>T ENST00000323456.5 - 12 1362 c.1238G>A c.(1237-1239)cGc>cAc p.R413H MTMR4_ENST00000579925.1_Missense_Mutation_p.R413H NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 413 Myotubularin phosphatase.|Substrate binding (By similarity). cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGCGGTGTGCGGTCCCAGCC 0.532000 4 221 0 0 0.184627 0 0 MUC17 140453 broad.mit.edu 37 7 100682744 100682744 + Missense_Mutation SNP C C T rs71286275 TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr7:100682744C>T ENST00000306151.4 + 3 8111 c.8047C>T c.(8047-8049)Cca>Tca p.P2683S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2683 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P2683S(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TAGCAGCATGCCAACCTCAAC 0.493000 5 490 0 0 0.217242 0 0 RP11-108M9.2 0 broad.mit.edu 37 1 17185383 17185384 + RNA INS - - C rs33920141 by1000genomes TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr1:17185383_17185384insC ENST00000414128.1 + 0 646 ACTAAATTTTTAGTGCAATAAT 0.465 3 3 --- --- --- --- PKN2 5586 broad.mit.edu 37 1 89206847 89206848 + Frame_Shift_Ins INS - - A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr1:89206847_89206848insA ENST00000370521.3 + 2 584_585 c.225_226insA c.(223-228)gaaaaafs p.EK75fs PKN2_ENST00000316005.7_Frame_Shift_Ins_p.EK75fs|PKN2_ENST00000370513.5_Frame_Shift_Ins_p.EK75fs|PKN2_ENST00000370505.3_Intron NM_006256.2 NP_006247.1 Q16513 PKN2_HUMAN protein kinase N2 75 signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1) 33 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) TCACAACAGATAAAAAAAGTTT 0.307 40 75 --- --- --- --- ANKRD36BP2 0 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 3 4 --- --- --- --- INTU 27152 broad.mit.edu 37 4 128577790 128577791 + Splice_Site INS - - GT TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr4:128577790_128577791insGT ENST00000335251.5 + 3 785_786 c.e3-1 INTU_ENST00000296461.5_Splice_Site NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 TCTGGTTTCAGGTGATGTCCTT 0.366 58 113 --- --- --- --- EPB41L4A 64097 broad.mit.edu 37 5 111754715 111754716 + Frame_Shift_Del DEL GA GA - TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr5:111754715_111754716delGA ENST00000261486.5 - 1 297_298 c.21_22delTC c.(19-24)gtcgfs p.VP7fs NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 7 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) AATTCTTCCGGAACAGCGCAGA 0.594 17 62 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72662348 72662349 + RNA INS - - A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr7:72662348_72662349insA ENST00000425256.1 - 0 1007 NR_002164.1 actctgtctccaaaaaaaaaaa 0.480 3 4 --- --- --- --- MYBL1 4603 broad.mit.edu 37 8 67488452 67488453 + Frame_Shift_Ins INS - - T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr8:67488452_67488453insT ENST00000522677.3 - 10 1669_1670 c.1259_1260insA c.(1258-1260)aacfs p.N420fs MYBL1_ENST00000524176.2_Frame_Shift_Ins_p.N420fs|MYBL1_ENST00000517885.1_Intron NM_001080416.2|NM_001144755.1 NP_001073885.1|NP_001138227.1 P10243 MYBA_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 1 420 Negative regulatory domain (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1) 25 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) CATTACAAGTGTTTTTTTTCCC 0.406 7 458 --- --- --- --- RP11-15J10.8 0 broad.mit.edu 37 9 70117457 70117458 + RNA INS - - G TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr9:70117457_70117458insG ENST00000588215.1 - 0 82 aagaaagaaaaaGAGAGAGAGA 0.465 3 6 --- --- --- --- RTN3 10313 broad.mit.edu 37 11 63525655 63525656 + Frame_Shift_Ins INS - - A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr11:63525655_63525656insA ENST00000377819.5 + 9 3235_3236 c.3081_3082insA c.(3079-3084)gcaaaafs p.AK1027fs RTN3_ENST00000540798.1_Frame_Shift_Ins_p.AK915fs|RTN3_ENST00000354497.4_Frame_Shift_Ins_p.Q146fs|RTN3_ENST00000339997.4_Frame_Shift_Ins_p.AK1008fs|RTN3_ENST00000341307.2_Frame_Shift_Ins_p.K212fs|RTN3_ENST00000537981.1_Frame_Shift_Ins_p.AK231fs|RTN3_ENST00000356000.3_Frame_Shift_Ins_p.AK250fs NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 1027 Interaction with FADD.|Reticulon. apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 CTGGAATCGCCAAAAAAAAGGC 0.337 7 118 --- --- --- --- HERC2 8924 broad.mit.edu 37 15 28387490 28387490 + Frame_Shift_Del DEL C C - TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr15:28387490delC ENST00000261609.7 - 76 11702 c.11594delG c.(11593-11595)ttfs p.C3865fs NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3865 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CGTCTCGGCACAGCAAGGCAG 0.547 8 51 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30732660 30732666 + Frame_Shift_Del DEL CAGGCTA CAGGCTA - TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr16:30732660_30732666delCAGGCTA ENST00000262518.4 + 21 3789_3795 c.3404_3410delCAGGCTA c.(3403-3411)ccfs p.PGY1135fs SRCAP_ENST00000395059.2_Frame_Shift_Del_p.PGY1135fs|SRCAP_ENST00000344771.4_Intron NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1135 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) ACAGTGCCACCAGGCTACACCTTCCCT 0.623 10 202 --- --- --- --- CTD-2377D24.8 0 broad.mit.edu 37 17 46768361 46768363 + RNA DEL ATT ATT - TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr17:46768361_46768363delATT ENST00000575202.1 + 0 51 atttttTGaaattattattatta 0.429 2 4 --- --- --- --- C19orf53 28974 broad.mit.edu 37 19 13888971 13888971 + Frame_Shift_Del DEL A A - TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr19:13888971delA ENST00000588234.1 + 3 569 c.259delA c.(259-261)aafs p.K87fs C19orf53_ENST00000593274.1_Frame_Shift_Del_p.K44fs NM_014047.2 NP_054766.1 Q9UNZ5 L10K_HUMAN chromosome 19 open reading frame 53 87 breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19) AGCCAAGAAGAAAGGGGCAGC 0.597 26 66 --- --- --- --- CTD-2245F17.3 0 broad.mit.edu 37 19 53703995 53703995 + RNA DEL T T - rs113703393 TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr19:53703995delT ENST00000597550.1 + 0 232 TGTTTCCCCCttttttttttt 0.473 2 4 --- --- --- ---