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 IRGC 56269 broad.mit.edu 37 19 44223786 44223786 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr19:44223786G>T ENST00000244314.5 + 2 1275 c.1076G>T c.(1075-1077)cGc>cTc p.R359L NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 359 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) CGGGTGGCCCGCGCCTTTGAG 0.657000 8 14 4.68919e-08 5.77841e-08 0.361761 1 0 CORO2B 10391 broad.mit.edu 37 15 69003979 69003979 + Silent SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr15:69003979G>T ENST00000543950.1 + 5 921 c.567G>T c.(565-567)ctG>ctT p.L189L CORO2B_ENST00000261861.5_Silent_p.L189L|CORO2B_ENST00000540068.1_Silent_p.L189L|CORO2B_ENST00000566799.1_Silent_p.L194L NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 194 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 ACGGCAGCCTGCTCACCACCA 0.552000 7 46 5.18039e-06 6.1419e-06 0.278610 1 0 CDH19 28513 broad.mit.edu 37 18 64172343 64172343 + Silent SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr18:64172343G>A ENST00000262150.2 - 12 2317 c.2025C>T c.(2023-2025)agC>agT p.S675S CDH19_ENST00000540086.1_3'UTR NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 675 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) TGATCTCAGCGCTTGTGGTTT 0.478000 8 57 0 0 0.307466 0 0 COL4A6 1288 broad.mit.edu 37 X 107554031 107554031 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:107554031C>T ENST00000334504.7 - 3 324 c.91G>A c.(91-93)Ggg>Agg p.G31R COL4A6_ENST00000545689.1_Missense_Mutation_p.G31R|COL4A6_ENST00000538570.1_Missense_Mutation_p.G31R|COL4A6_ENST00000372216.4_Missense_Mutation_p.G32R|COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000394872.2_Missense_Mutation_p.G31R NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 32 7S domain. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TCCTGGCCCCCACATGGCTTT 0.433000 Alport syndrome with Diffuse Leiomyomatosis 16 138 0 0 0.592651 0 0 EPB42 2038 broad.mit.edu 37 15 43494107 43494107 + Silent SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr15:43494107G>T ENST00000300215.3 - 12 2395 c.1938C>A c.(1936-1938)gcC>gcA p.A646A EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000540029.1_Silent_p.A538A|EPB42_ENST00000441366.2_Silent_p.A616A P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 616 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) CCTCCATGGGGGCATCTAGGG 0.552000 12 89 2.23348e-06 2.67847e-06 0.500413 1 0 ZNF560 147741 broad.mit.edu 37 19 9582012 9582012 + Missense_Mutation SNP T T A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr19:9582012T>A ENST00000301480.4 - 6 494 c.281A>T c.(280-282)cAg>cTg p.Q94L NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 94 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 CCAAAACTCCTGCTGCAGTGC 0.308000 6 60 0 0 0.307466 0 0 RD3 343035 broad.mit.edu 37 1 211654671 211654671 + Silent SNP A A G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:211654671A>G ENST00000367002.4 - 2 1250 c.87T>C c.(85-87)ctT>ctC p.L29L RD3_ENST00000484910.1_Intron NM_001164688.1|NM_183059.2 NP_001158160.1|NP_898882.1 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 29 response to stimulus|visual perception central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) GCTCCATCATAAGCGTCTCCA 0.632000 23 96 0 0 0.706142 0 0 GCLC 2729 broad.mit.edu 37 6 53370274 53370274 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr6:53370274C>T ENST00000229416.6 - 12 1794 c.1311G>A c.(1309-1311)gaG>gaA p.E437E RP1-27K12.4_ENST00000508884.1_RNA NM_001197115.1|NM_001498.3 NP_001184044.1|NP_001489.1 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 437 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) AGGCAGAGTTCTCAAAGTCTG 0.443000 3 44 0 0 0.150653 0 0 SLC36A4 120103 broad.mit.edu 37 11 92887297 92887297 + Missense_Mutation SNP C C G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr11:92887297C>G ENST00000326402.4 - 10 1314 c.1184G>C c.(1183-1185)aGa>aCa p.R395T SLC36A4_ENST00000529184.1_Missense_Mutation_p.R260T NM_152313.2 NP_689526.2 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid symporter), member 4 395 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CAAGAAGGATCTTATCCCAAA 0.279000 12 85 0 0 0.411799 0 0 IQSEC2 23096 broad.mit.edu 37 X 53283712 53283712 + Splice_Site SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:53283712C>A ENST00000396435.3 - 4 1601 c.1401_splice c.e4+1 p.Q467_splice IQSEC2_ENST00000375365.2_Splice_Site_p.Q262_splice|IQSEC2_ENST00000375368.5_Splice_Site_p.Q457_splice NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 457 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 GGATCCTGACCTGTTTGGAGA 0.502000 7 64 4.68919e-08 5.77841e-08 0.361761 1 0 DDI1 414301 broad.mit.edu 37 11 103907653 103907653 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr11:103907653G>A ENST00000302259.3 + 1 346 c.103G>A c.(103-105)Gaa>Aaa p.E35K PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 35 Ubiquitin-like. proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) GGTCCTCTGCGAAGCGGAGTC 0.592000 10 95 0 0 0.335167 0 0 PLA2G15 23659 broad.mit.edu 37 16 68293237 68293237 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr16:68293237G>A ENST00000219345.5 + 6 999 c.916G>A c.(916-918)Gat>Aat p.D306N PLA2G15_ENST00000444212.2_Missense_Mutation_p.D106N|PLA2G15_ENST00000413021.2_Missense_Mutation_p.D212N|PLA2G15_ENST00000566188.1_3'UTR|RP11-96D1.7_ENST00000563175.1_RNA NM_012320.3 NP_036452.1 Q8NCC3 PAG15_HUMAN phospholipase A2, group XV 306 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 12 CGGCTTTGAAGATGGCTGGCT 0.577000 4 55 0 0 0.184627 0 0 ZNF3 7551 broad.mit.edu 37 7 99669784 99669784 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr7:99669784G>A ENST00000303915.6 - 5 1290 c.323C>T c.(322-324)tCa>tTa p.S108L ZNF3_ENST00000424697.1_Missense_Mutation_p.S108L|ZNF3_ENST00000299667.4_Missense_Mutation_p.S108L|ZNF3_ENST00000413658.2_Intron P17036 ZNF3_HUMAN zinc finger protein 3 108 KRAB. cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S108*(1) NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 25 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) GACCCCATGTGATCTTGTGTC 0.413000 6 61 0 0 0.307466 0 0 LRP12 29967 broad.mit.edu 37 8 105503496 105503496 + Missense_Mutation SNP C C G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr8:105503496C>G ENST00000276654.5 - 7 2093 c.1985G>C c.(1984-1986)aGa>aCa p.R662T LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.R643T NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 662 endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TGCCATATCTCTTCTCTCATT 0.483000 5 51 0 0 0.248553 0 0 BFAR 51283 broad.mit.edu 37 16 14742340 14742340 + Missense_Mutation SNP A A T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr16:14742340A>T ENST00000261658.2 + 3 636 c.359A>T c.(358-360)cAg>cTg p.Q120L BFAR_ENST00000426842.2_Intron|BFAR_ENST00000563971.1_Intron NM_016561.2 NP_057645.1 Q9NZS9 BFAR_HUMAN bifunctional apoptosis regulator 120 anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 11 GCAGCCTTTCAGAAATATGGG 0.433000 43 180 0 0 0.870114 0 0 CYP3A5 1577 broad.mit.edu 37 7 99250195 99250195 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr7:99250195C>T ENST00000343703.5 - 12 1590 c.1204G>A c.(1204-1206)Gag>Aag p.E402K CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Missense_Mutation_p.E412K cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) CGGAACTCCTCAGGCTCTGTC 0.473000 5 85 0 0 0.278610 0 0 COL11A1 1301 broad.mit.edu 37 1 103544391 103544391 + Missense_Mutation SNP G G C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:103544391G>C ENST00000358392.2 - 3 628 c.311C>G c.(310-312)aCa>aGa p.T104R COL11A1_ENST00000353414.4_Missense_Mutation_p.T104R|COL11A1_ENST00000370096.3_Missense_Mutation_p.T104R|COL11A1_ENST00000512756.1_Missense_Mutation_p.T104R NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 104 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TGGTTTTACTGTAAATAGTAT 0.333000 9 17 0 0 0.335167 0 0 DOCK2 1794 broad.mit.edu 37 5 169096305 169096305 + Silent SNP A A T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:169096305A>T ENST00000256935.8 + 3 221 c.141A>T c.(139-141)ggA>ggT p.G47G NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 47 SH3. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGTATAGGGGATACCTCATAA 0.378000 8 93 0 0 0.307466 0 0 TEC 7006 broad.mit.edu 37 4 48147134 48147134 + Nonsense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr4:48147134C>A ENST00000381501.3 - 14 1589 c.1432G>T c.(1432-1434)Gag>Tag p.E478* TEC_ENST00000511471.2_5'UTR NM_003215.2 NP_003206.2 P42680 TEC_HUMAN tec protein tyrosine kinase 478 Protein kinase. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 TCCAGATACTCCATCCCTTCA 0.488000 42 149 2.69774e-35 3.85568e-35 0.870114 1 0 MSH4 4438 broad.mit.edu 37 1 76363664 76363664 + Missense_Mutation SNP A A G rs111548015 TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:76363664A>G ENST00000263187.3 + 18 2532 c.2428A>G c.(2428-2430)Atg>Gtg p.M810V NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 810 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 TGTAGAAAACATGCATTTTGA 0.323000 Mismatch excision repair (MMR) 16 56 0 0 0.520397 0 0 FAM151A 338094 broad.mit.edu 37 1 55081693 55081693 + Splice_Site SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:55081693C>T ENST00000302250.2 - 3 575 c.415_splice c.e3+1 p.G139_splice ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Splice_Site_p.G139_splice NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 139 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 AGGCCCTTACCCTTTTGGGAA 0.607000 6 26 0 0 0.307466 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21457474 21457474 + Missense_Mutation SNP A A T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr12:21457474A>T ENST00000307378.6 - 7 1196 c.476T>A c.(475-477)gTg>gAg p.V159E SLCO1A2_ENST00000390670.3_Missense_Mutation_p.V157E|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.V159E|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.V27E|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.V27E NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 159 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 TAGGACGTACACCCACATTAA 0.338000 6 142 0 0 0.307466 0 0 CRB1 23418 broad.mit.edu 37 1 197297974 197297974 + Missense_Mutation SNP G G C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:197297974G>C ENST00000367400.3 + 2 628 c.493G>C c.(493-495)Gat>Cat p.D165H CRB1_ENST00000538660.1_Missense_Mutation_p.D165H|CRB1_ENST00000535699.1_Missense_Mutation_p.D96H|CRB1_ENST00000367399.2_Missense_Mutation_p.D165H NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 165 EGF-like 4; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CGTGTGCCAGGATGGAATTGA 0.512000 8 31 0 0 0.307466 0 0 RAB6B 51560 broad.mit.edu 37 3 133557048 133557048 + Missense_Mutation SNP T T C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr3:133557048T>C ENST00000285208.4 - 6 806 c.457A>G c.(457-459)Att>Gtt p.I153V RAB6B_ENST00000543906.1_Missense_Mutation_p.I153V|RAB6B_ENST00000486858.1_Missense_Mutation_p.I140V|RAB6B_ENST00000469959.1_Intron NM_016577.3 NP_057661.3 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family 153 protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|Golgi membrane GTP binding|GTPase activity|protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 11 CTGGTCTCAATGAACATGACG 0.612000 31 185 0 0 0.847076 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617004 77617004 + Missense_Mutation SNP C C G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr8:77617004C>G ENST00000521891.2 + 2 1129 c.681C>G c.(679-681)ttC>ttG p.F227L ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.F227L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.F227L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.F227L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 227 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F227L(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGCACAGTTTCCGTGTCTATG 0.468000 HNSCC(33;0.089) 7 26 0 0 0.278610 0 0 OR6X1 390260 broad.mit.edu 37 11 123624359 123624359 + Missense_Mutation SNP T T A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr11:123624359T>A ENST00000327930.2 - 1 894 c.868A>T c.(868-870)Att>Ttt p.I290F NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TTGTTTCTAATAGTATAAATA 0.413000 18 90 0 0 0.592651 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146997363 146997363 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr7:146997363C>T ENST00000361727.3 + 9 1995 c.1479C>T c.(1477-1479)ggC>ggT p.G493G NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 493 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TTAAAACTGGCGAGAAGTACT 0.368000 HNSCC(39;0.1) 20 81 0 0 0.693898 0 0 KLK6 5653 broad.mit.edu 37 19 51466708 51466708 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr19:51466708C>T ENST00000376851.3 - 4 734 c.295G>A c.(295-297)Gat>Aat p.D99N KLK6_ENST00000594641.1_Missense_Mutation_p.D99N|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000310157.2_Missense_Mutation_p.D99N NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 99 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) CTGGCGGCATCATAGTCAGGG 0.582000 9 52 0 0 0.361761 0 0 ZNF688 146542 broad.mit.edu 37 16 30581727 30581727 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr16:30581727G>A ENST00000223459.6 - 3 1445 c.341C>T c.(340-342)cCg>cTg p.P114L ZNF688_ENST00000395219.1_Missense_Mutation_p.P100L NM_145271.3 NP_660314.1 P0C7X2 ZN688_HUMAN zinc finger protein 688 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P100Q(1)|p.P114Q(1) endometrium(3)|large_intestine(2)|lung(2)|ovary(1) 8 GACTTCCTCCGGTTCCTCTTC 0.502000 4 73 0 0 0.248553 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453625 84453625 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr13:84453625C>A ENST00000377084.2 - 1 2903 c.2018G>T c.(2017-2019)tGg>tTg p.W673L NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 673 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CCCATTGTGCCAGTAGGAAGA 0.547000 6 30 3.09899e-07 3.78899e-07 0.307466 1 0 UNC79 57578 broad.mit.edu 37 14 94107578 94107578 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr14:94107578C>T ENST00000553484.1 + 35 6225 c.6071C>T c.(6070-6072)aCg>aTg p.T2024M UNC79_ENST00000256339.4_Missense_Mutation_p.T1825M|UNC79_ENST00000555664.1_Missense_Mutation_p.T1963M|UNC79_ENST00000393151.2_Missense_Mutation_p.T2002M Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2002 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GAGCAGCCGACGGTGATGACG 0.468000 5 24 0 0 0.217242 0 0 KIAA1549 57670 broad.mit.edu 37 7 138602171 138602171 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr7:138602171G>A ENST00000440172.1 - 2 2249 c.2201C>T c.(2200-2202)aCg>aTg p.T734M KIAA1549_ENST00000422774.1_Missense_Mutation_p.T734M|KIAA1549_ENST00000242365.4_Missense_Mutation_p.T684M NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 734 Ser-rich. integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CAGTGAAACCGTAGACGCTTC 0.458000 O BRAF pilocytic astrocytoma 5 39 0 0 0.217242 0 0 LRIG1 26018 broad.mit.edu 37 3 66436506 66436506 + Missense_Mutation SNP T T G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr3:66436506T>G ENST00000383703.3 - 14 2363 c.1760A>C c.(1759-1761)cAc>cCc p.H587P LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000273261.3_Missense_Mutation_p.H563P Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 563 Ig-like C2-type 1. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) CTGACGGAGGTGCAGGATGGT 0.542000 12 61 0 0 0.387290 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911977 100911977 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:100911977C>A ENST00000328766.5 - 5 1051 c.598G>T c.(598-600)Gca>Tca p.A200S ARMCX2_ENST00000356824.4_Missense_Mutation_p.A200S|ARMCX2_ENST00000330154.2_Missense_Mutation_p.A200S NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 200 Ala-rich. integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 GTAGGTGCTGCTACCCCAGGA 0.662000 7 35 0.0293803 0.030756 0.248553 1 0 CES5A 221223 broad.mit.edu 37 16 55880391 55880391 + Missense_Mutation SNP T T G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr16:55880391T>G ENST00000521992.1 - 14 1932 c.1787A>C c.(1786-1788)cAg>cCg p.Q596P CES5A_ENST00000290567.9_Missense_Mutation_p.Q567P|CES5A_ENST00000520435.1_Missense_Mutation_p.Q537P|CES5A_ENST00000518005.1_Missense_Mutation_p.Q461P|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Missense_Mutation_p.Q517P NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 567 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 AAAGAAAGGCTGGAGGAGAGA 0.473000 10 88 0 0 0.387290 0 0 HOXA3 3200 broad.mit.edu 37 7 27147556 27147556 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr7:27147556G>T ENST00000396352.4 - 3 1509 c.1310C>A c.(1309-1311)gCa>gAa p.A437E HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.A437E NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 437 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 GAGCTTGGGTGCTTCCTGAAT 0.592000 8 79 1.08611e-07 1.33314e-07 0.387290 1 0 IL15 3600 broad.mit.edu 37 4 142643089 142643089 + Silent SNP A A T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr4:142643089A>T ENST00000477265.1 + 4 5050 c.42A>T c.(40-42)gcA>gcT p.A14A IL15_ENST00000394159.1_Silent_p.A14A|IL15_ENST00000320650.4_Silent_p.A41A|IL15_ENST00000529613.1_Silent_p.A41A|IL15_ENST00000514653.1_Silent_p.A14A|IL15_ENST00000296545.7_Silent_p.A41A P40933 IL15_HUMAN interleukin 15 41 cell-cell signaling|immune response|positive regulation of interleukin-17 production endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus cytokine activity|cytokine receptor binding|signal transducer activity kidney(1)|large_intestine(1)|lung(2)|stomach(1) 5 all_hematologic(180;0.158) GTTTCAGTGCAGGGCTTCCTA 0.333000 6 56 0 0 0.307466 0 0 GNA11 2767 broad.mit.edu 37 19 3113345 3113345 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr19:3113345C>T ENST00000078429.4 + 3 581 c.339C>T c.(337-339)atC>atT p.I113I NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 113 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) CGCTCCTGATCCGGGAGGTGG 0.637000 Mis uveal melanoma 7 65 0 0 0.387290 0 0 NR0B1 190 broad.mit.edu 37 X 30322938 30322938 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:30322938C>A ENST00000378970.4 - 2 1405 c.1171G>T c.(1171-1173)Gtg>Ttg p.V391L NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 391 Ligand-binding (By similarity). adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) AGGCCCGGCACGTCTGGAGGG 0.468000 10 35 0.00185496 0.0020372 0.435327 1 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709706 31709706 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr21:31709706G>T ENST00000382835.2 - 1 306 c.281C>A c.(280-282)cCc>cAc p.P94H NM_001077711.1 NP_001071179.1 Q3LI81 KR271_HUMAN keratin associated protein 27-1 94 intermediate filament endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 CCTTTCGCAGGGCCTGGAATT 0.478000 14 98 3.57192e-18 4.94696e-18 0.539581 1 0 CHPF 79586 broad.mit.edu 37 2 220406757 220406757 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr2:220406757G>A ENST00000243776.6 - 2 717 c.469C>T c.(469-471)Cgc>Tgc p.R157C CHPF_ENST00000373891.2_Missense_Mutation_p.R157C|CHPF_ENST00000535926.1_5'UTR NM_024536.5 NP_078812.2 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 157 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 21 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GGGGCCCGGCGGCCCCGTGCG 0.721000 OREG0015229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 2 0 0 0.115264 0 0 GATAD2A 54815 broad.mit.edu 37 19 19606951 19606951 + Nonsense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr19:19606951G>T ENST00000404158.1 + 9 1265 c.847G>T c.(847-849)Gga>Tga p.G283* GATAD2A_ENST00000358713.3_Nonsense_Mutation_p.G283*|GATAD2A_ENST00000360315.3_Nonsense_Mutation_p.G283*|GATAD2A_ENST00000429563.2_Nonsense_Mutation_p.G110*|GATAD2A_ENST00000252577.5_Nonsense_Mutation_p.G283*|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000494516.1_Intron Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 283 DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 GCAGATTCAGGGACAGAGGAT 0.632000 6 66 0.00116845 0.00128776 0.217242 1 0 ZNF18 7566 broad.mit.edu 37 17 11895931 11895931 + Silent SNP T T C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr17:11895931T>C ENST00000322748.3 - 4 820 c.216A>G c.(214-216)ccA>ccG p.P72P ZNF18_ENST00000454073.3_Silent_p.P72P|ZNF18_ENST00000580613.1_Silent_p.P21P|ZNF18_ENST00000580306.1_Silent_p.P72P NM_144680.2 NP_653281.2 P17022 ZNF18_HUMAN zinc finger protein 18 72 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 14 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) TGTGAACCTCTGGCTGTAGCC 0.542000 8 49 0 0 0.307466 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147675022 147675022 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr7:147675022C>T ENST00000361727.3 + 15 2840 c.2324C>T c.(2323-2325)aCt>aTt p.T775I NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 775 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GTTGGAGATACTGACCGTCAA 0.483000 HNSCC(39;0.1) 10 70 0 0 0.411799 0 0 AAAS 8086 broad.mit.edu 37 12 53709521 53709521 + Missense_Mutation SNP T T C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr12:53709521T>C ENST00000550286.1 - 3 370 c.17A>G c.(16-18)cAg>cGg p.Q6R AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Silent_p.S99S|AAAS_ENST00000209873.4_Silent_p.S99S Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, alacrimia 0 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 CCTCTTCTTCTGAGTTTGCAA 0.488000 8 24 0 0 0.307466 0 0 NOX3 50508 broad.mit.edu 37 6 155776209 155776209 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr6:155776209C>T ENST00000159060.2 - 2 205 c.103G>A c.(103-105)Gaa>Aaa p.E35K NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 35 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) TCCTCCTCTTCATACCAGTAG 0.328000 5 45 0 0 0.307466 0 0 SEZ6L 23544 broad.mit.edu 37 22 26706657 26706657 + Missense_Mutation SNP G G C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr22:26706657G>C ENST00000529632.2 + 7 1732 c.1536G>C c.(1534-1536)caG>caC p.Q512H SEZ6L_ENST00000248933.6_Missense_Mutation_p.Q512H|SEZ6L_ENST00000360929.3_Missense_Mutation_p.Q512H|SEZ6L_ENST00000402979.1_Missense_Mutation_p.Q285H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.Q512H|SEZ6L_ENST00000403121.1_Missense_Mutation_p.Q285H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.Q512H NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 512 CUB 2. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 ACAGCGGGCAGACCAACAAGT 0.567000 28 97 0 0 0.769981 0 0 SCARB1 949 broad.mit.edu 37 12 125270965 125270965 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr12:125270965C>T ENST00000339570.5 - 11 1535 c.1339G>A c.(1339-1341)Gtc>Atc p.V447I SCARB1_ENST00000415380.2_Missense_Mutation_p.V447I|SCARB1_ENST00000544327.1_Missense_Mutation_p.V393I|SCARB1_ENST00000376788.1_Missense_Mutation_p.V347I|SCARB1_ENST00000546215.1_Intron|SCARB1_ENST00000261693.6_Missense_Mutation_p.V447I|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000540495.1_Missense_Mutation_p.V410I|SCARB1_ENST00000541205.1_Missense_Mutation_p.V406I NM_001082959.1 NP_001076428.1 Q8WTV0 SCRB1_HUMAN scavenger receptor class B, member 1 447 adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) GCCAGGAGGACGTACTGGGCA 0.612000 9 132 0 0 0.335167 0 0 ANKRD11 29123 broad.mit.edu 37 16 89354971 89354971 + Missense_Mutation SNP G G C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr16:89354971G>C ENST00000301030.4 - 7 1169 c.709C>G c.(709-711)Cct>Gct p.P237A ANKRD11_ENST00000378330.2_Missense_Mutation_p.P237A NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 237 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TCGTGCAAAGGCGTGTCGTCA 0.617000 8 38 0 0 0.361761 0 0 SRL 6345 broad.mit.edu 37 16 4242645 4242645 + Missense_Mutation SNP C C G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr16:4242645C>G ENST00000399609.3 - 6 943 c.931G>C c.(931-933)Gag>Cag p.E311Q SRL_ENST00000537996.1_Missense_Mutation_p.E269Q NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 770 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 AGGGAGATCTCTTCTTGGAGG 0.547000 11 113 0 0 0.361761 0 0 MYPN 84665 broad.mit.edu 37 10 69926170 69926170 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr10:69926170C>T ENST00000358913.5 + 10 2208 c.1720C>T c.(1720-1722)Ccc>Tcc p.P574S MYPN_ENST00000354393.2_Missense_Mutation_p.P299S|MYPN_ENST00000540630.1_Missense_Mutation_p.P574S NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 574 nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GGAACAACCCCCCAAACCCAA 0.577000 6 34 0 0 0.248553 0 0 DSE 29940 broad.mit.edu 37 6 116757051 116757051 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr6:116757051G>T ENST00000331677.3 + 7 1864 c.1420G>T c.(1420-1422)Ggg>Tgg p.G474W DSE_ENST00000359564.2_Missense_Mutation_p.G474W|DSE_ENST00000537543.1_Missense_Mutation_p.G493W|DSE_ENST00000452085.3_Missense_Mutation_p.G474W Q9UL01 DSE_HUMAN dermatan sulfate epimerase 474 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) GGCTCTGTACGGGCCAAAGTA 0.453000 21 38 3.01185e-09 3.78598e-09 0.667858 1 0 INTS8 55656 broad.mit.edu 37 8 95850846 95850846 + Splice_Site SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr8:95850846G>T ENST00000523731.1 + 8 1150 c.1017_splice c.e8+1 p.Q339_splice INTS8_ENST00000447247.1_Splice_Site_p.Q339_splice NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 339 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) GCAACTATCAGGTAAGGTGTA 0.423000 34 51 6.53348e-20 9.17031e-20 0.788014 1 0 PCDHA6 56142 broad.mit.edu 37 5 140208228 140208228 + Silent SNP A A T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:140208228A>T ENST00000529310.1 + 1 666 c.552A>T c.(550-552)atA>atT p.I184I PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.I184I|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 p.I184M(2) NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGTGAAAATAAACAGTGATG 0.438000 5 64 0 0 0.184627 0 0 PSAT1 29968 broad.mit.edu 37 9 80943085 80943085 + Silent SNP T T C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr9:80943085T>C ENST00000376588.3 + 8 1056 c.988T>C c.(988-990)Ttg>Ctg p.L330L PSAT1_ENST00000347159.2_Intron NM_058179.2 NP_478059.1 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 330 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) ACTCAATATGTTGTCCTTGAA 0.363000 3 24 0 0 0.150653 0 0 TFEB 7942 broad.mit.edu 37 6 41658524 41658524 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr6:41658524C>T ENST00000394283.1 - 3 1571 c.345G>A c.(343-345)ccG>ccA p.P115P TFEB_ENST00000358871.2_Silent_p.P129P|TFEB_ENST00000373033.1_Silent_p.P115P|TFEB_ENST00000420312.1_Intron|TFEB_ENST00000230323.4_Silent_p.P115P|TFEB_ENST00000403298.4_Silent_p.P115P P19484 TFEB_HUMAN transcription factor EB 115 GSPKPPPAASPGVRAGHVLSSSAGNSAPN -> ALRNPHQP PPQGCELDTCCPPPLATVLPI (in Ref. 1; AAA36730). embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GTGGGGGTTTCGGAGAGCCCT 0.632000 T ALPHA renal (childhood epithelioid) 5 58 0 0 0.248553 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303999 151303999 + Silent SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:151303999G>A ENST00000370323.4 - 4 410 c.94C>T c.(94-96)Ctg>Ttg p.L32L MAGEA10_ENST00000244096.3_Silent_p.L32L|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 32 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TCCACAGCCAGGGGAGCCTGT 0.562000 4 85 0 0 0.150653 0 0 DNAH10 196385 broad.mit.edu 37 12 124364265 124364265 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr12:124364265G>T ENST00000409039.3 + 49 8222 c.8197G>T c.(8197-8199)Gac>Tac p.D2733Y NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2733 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ATTGTTTGGAGACTTCCAGAT 0.517000 54 138 1.12612e-26 1.59491e-26 0.870114 1 0 KCND2 3751 broad.mit.edu 37 7 119915061 119915061 + Silent SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr7:119915061C>A ENST00000331113.4 + 1 1340 c.375C>A c.(373-375)atC>atA p.I125I NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 125 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding p.P126T(1)|p.I125I(1) NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) TTGGCCTCATCCCGGAAATCA 0.582000 14 118 4.7546e-09 5.95276e-09 0.500413 1 0 BEX2 84707 broad.mit.edu 37 X 102564744 102564744 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:102564744C>A ENST00000536889.1 - 3 614 c.257G>T c.(256-258)aGg>aTg p.R86M BEX2_ENST00000372674.1_Missense_Mutation_p.R54M|BEX2_ENST00000372677.3_Missense_Mutation_p.R54M NM_001168399.1|NM_001168400.1 NP_001161871.1|NP_001161872.1 Q9BXY8 BEX2_HUMAN brain expressed X-linked 2 54 apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle cytoplasm|nucleus endometrium(1)|lung(1)|ovary(1) 3 GCGGAACCGCCTACGGTTTCC 0.478000 8 129 0.00621372 0.00670653 0.335167 1 0 FAT2 2196 broad.mit.edu 37 5 150934210 150934210 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:150934210G>A ENST00000261800.5 - 4 3670 c.3658C>T c.(3658-3660)Ccc>Tcc p.P1220S NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1220 Cadherin 10. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCAGTGAGGGTTCCCCATTG 0.488000 9 88 0 0 0.307466 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580555 40580555 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr19:40580555C>T ENST00000450241.2 - 6 2003 c.1692G>A c.(1690-1692)atG>atA p.M564I ZNF780A_ENST00000595687.2_Missense_Mutation_p.M598I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.M599I|ZNF780A_ENST00000455521.1_Missense_Mutation_p.M599I|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.M598I O75290 Z780A_HUMAN zinc finger protein 780A 598 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GAATAAGTTGCATATGAAGTC 0.408000 12 75 0 0 0.479597 0 0 FCHO2 115548 broad.mit.edu 37 5 72313065 72313065 + Missense_Mutation SNP G G C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:72313065G>C ENST00000430046.2 + 8 842 c.726G>C c.(724-726)atG>atC p.M242I FCHO2_ENST00000287761.6_Missense_Mutation_p.M242I|FCHO2_ENST00000341845.6_Missense_Mutation_p.M242I|FCHO2_ENST00000512348.1_Missense_Mutation_p.M209I NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 242 cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) TAAATAACATGGCTAATACTA 0.303000 3 3 0 0 0.115264 0 0 NOX3 50508 broad.mit.edu 37 6 155776017 155776017 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr6:155776017C>T ENST00000159060.2 - 3 285 c.183G>A c.(181-183)ctG>ctA p.L61L NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 61 Ferric oxidoreductase. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) AGTTAAAATTCAGGCACAGTG 0.368000 5 39 0 0 0.184627 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72026673 72026673 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr12:72026673C>A ENST00000378743.3 - 14 3168 c.2810G>T c.(2809-2811)cGc>cTc p.R937L NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 937 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CACCCCAAAGCGATCTTGTTC 0.348000 3 94 0.184627 0.187624 0.184627 1 0 NSD1 64324 broad.mit.edu 37 5 176722250 176722250 + Silent SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:176722250G>T ENST00000439151.2 + 23 7926 c.7881G>T c.(7879-7881)ctG>ctT p.L2627L NSD1_ENST00000361032.4_Silent_p.L2524L|NSD1_ENST00000354179.4_Silent_p.L2358L|NSD1_ENST00000347982.4_Silent_p.L2358L NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2627 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CCTGGGCCCTGGGAAAAGCCT 0.577000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 3 46 0.115264 0.118287 0.115264 1 0 ERAL1 26284 broad.mit.edu 37 17 27182139 27182139 + Silent SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr17:27182139G>A ENST00000254928.5 + 1 184 c.87G>A c.(85-87)cgG>cgA p.R29R ERAL1_ENST00000578001.1_3'UTR NM_005702.2 NP_005693.1 O75616 ERAL1_HUMAN Era-like 12S mitochondrial rRNA chaperone 1 29 ribosomal small subunit assembly mitochondrial inner membrane|mitochondrial matrix GTP binding|ribosomal small subunit binding|rRNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105) CGAGGGAGCGGGTGATCCCTT 0.637000 10 60 0 0 0.361761 0 0 CT47B1 643311 broad.mit.edu 37 X 120008756 120008756 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:120008756G>T ENST00000371311.3 - 1 1023 c.769C>A c.(769-771)Ccc>Acc p.P257T NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 257 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 TTACCCTCGGGGGCCACGGCC 0.682000 18 112 9.95505e-16 1.34307e-15 0.624587 1 0 CPM 1368 broad.mit.edu 37 12 69326608 69326608 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr12:69326608G>A ENST00000551568.1 - 2 70 c.10C>T c.(10-12)Ccg>Tcg p.P4S CPM_ENST00000338356.3_Missense_Mutation_p.P4S|CPM_ENST00000546373.1_Missense_Mutation_p.P4S NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 4 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) CAGAGGCACGGGAAGTCCATG 0.532000 17 45 0 0 0.592651 0 0 MAT1A 4143 broad.mit.edu 37 10 82049159 82049159 + Silent SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr10:82049159G>T ENST00000372213.3 - 1 281 c.21C>A c.(19-21)ggC>ggA p.G7G NM_000429.2 NP_000420.1 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 7 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GGTCACACAAGCCATCCACCG 0.473000 18 75 3.83957e-06 4.58697e-06 0.639603 1 0 C8orf31 286122 broad.mit.edu 37 8 144124454 144124454 + Silent SNP A A G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr8:144124454A>G ENST00000395172.1 + 2 388 c.36A>G c.(34-36)tcA>tcG p.S12S C8orf31_ENST00000517653.1_Intron NM_173687.2 NP_775958.1 Q8N9H6 CH031_HUMAN chromosome 8 open reading frame 31 12 breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1) 10 all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CCTGCAATTCAGTGAGGCAGC 0.602000 20 80 0 0 0.654019 0 0 OR2T4 127074 broad.mit.edu 37 1 248525679 248525679 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:248525679G>T ENST00000366475.1 + 1 797 c.797G>T c.(796-798)cGg>cTg p.R266L NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCAGAGGGCCGGAAAAAGGCC 0.547000 35 98 9.8876e-21 1.39406e-20 0.804634 1 0 SERPINA9 327657 broad.mit.edu 37 14 94929540 94929540 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr14:94929540G>A ENST00000337425.5 - 5 1272 c.1198C>T c.(1198-1200)Ccc>Tcc p.P400S SERPINA9_ENST00000424550.2_Missense_Mutation_p.P251S|SERPINA9_ENST00000298845.7_Missense_Mutation_p.P300S|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000448305.2_Missense_Mutation_p.P302S|SERPINA9_ENST00000380365.3_Missense_Mutation_p.P382S NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 382 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) AAGTAAGAGGGGCCATCCTTC 0.498000 11 86 0 0 0.435327 0 0 ALX3 257 broad.mit.edu 37 1 110607216 110607216 + Missense_Mutation SNP C C T rs112456669 TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:110607216C>T ENST00000369792.4 - 2 674 c.587G>A c.(586-588)cGg>cAg p.R196Q NM_006492.2 NP_006483.2 O95076 ALX3_HUMAN ALX homeobox 3 196 R -> W (in FND1). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) CACCTGTACCCGGGCCTCAGT 0.602000 9 35 0 0 0.411799 0 0 YARS2 51067 broad.mit.edu 37 12 32908396 32908396 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr12:32908396C>T ENST00000324868.8 - 1 440 c.413G>A c.(412-414)cGa>cAa p.R138Q NM_001040436.2 NP_001035526.1 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 138 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 16 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) CGCGTTGGCTCGCACGCGCTC 0.687000 OREG0021729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 9 0 0 0.184627 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37488690 37488690 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr10:37488690G>T ENST00000374660.1 + 36 3040 c.2941G>T c.(2941-2943)Gtt>Ttt p.V981F ANKRD30A_ENST00000361713.1_Missense_Mutation_p.V862F|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.V862F Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1018 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ACAAAAGAAGGTTGAAGAAAA 0.274000 3 26 0.014758 0.0156585 0.184627 1 0 DOCK2 1794 broad.mit.edu 37 5 169461502 169461502 + Silent SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:169461502G>T ENST00000256935.8 + 35 3647 c.3567G>T c.(3565-3567)cgG>cgT p.R1189R DOCK2_ENST00000540750.1_Silent_p.R250R|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.R681R NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1189 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGATTACCGGGGTGTGATGA 0.582000 10 64 5.50884e-06 6.50666e-06 0.411799 1 0 LRRC4C 57689 broad.mit.edu 37 11 40137641 40137641 + Missense_Mutation SNP G G C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr11:40137641G>C ENST00000278198.2 - 2 2165 c.202C>G c.(202-204)Cgt>Ggt p.R68G LRRC4C_ENST00000528697.1_Missense_Mutation_p.R68G|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R68G|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R68G Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 68 LRRNT. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GGAACCTCACGCAGGTTTTTC 0.527000 15 54 0 0 0.539581 0 0 ITPRIPL2 162073 broad.mit.edu 37 16 19127309 19127309 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr16:19127309C>T ENST00000381440.3 + 1 2056 c.1526C>T c.(1525-1527)gCc>gTc p.A509V CTD-2349B8.1_ENST00000564808.2_Intron NM_001034841.3 NP_001030013.1 Q3MIP1 IPIL2_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 2 509 integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CTTCTCCGGGCCTACGGGGGT 0.682000 7 62 0 0 0.278610 0 0 IL9R 3581 broad.mit.edu 37 X 155239558 155239558 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:155239558C>T ENST00000424344.3 + 10 1354 c.987C>T c.(985-987)ccC>ccT p.P329P IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000244174.5_Silent_p.P350P Q01113 IL9R_HUMAN interleukin 9 receptor 350 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCTTGGAGCCCTGCGTCCAGG 0.672000 3 43 0 0 0.150653 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 3 16 0 0 0.115264 0 0 ENOX2 10495 broad.mit.edu 37 X 129771342 129771342 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:129771342C>A ENST00000338144.3 - 12 1676 c.1259G>T c.(1258-1260)aGc>aTc p.S420I ENOX2_ENST00000370927.1_Missense_Mutation_p.S420I|ENOX2_ENST00000394363.1_Missense_Mutation_p.S391I|ENOX2_ENST00000370935.1_Missense_Mutation_p.S391I NM_182314.1 NP_872114.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 420 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 CCAACGGAGGCTGTCATTTTC 0.423000 8 102 0.00448238 0.00487148 0.307466 1 0 PUS3 83480 broad.mit.edu 37 11 125765571 125765571 + Silent SNP G G C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr11:125765571G>C ENST00000227474.3 - 3 589 c.492C>G c.(490-492)ctC>ctG p.L164L HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000530811.1_Silent_p.L164L|HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000526028.1_Intron NM_001271985.1|NM_031307.3 NP_001258914.1|NP_112597.3 Q9BZE2 PUS3_HUMAN pseudouridylate synthase 3 164 nucleus RNA binding NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043) GTACCCGATTGAGAATGTGGG 0.512000 7 77 0 0 0.307466 0 0 ZDHHC14 79683 broad.mit.edu 37 6 158014145 158014145 + Missense_Mutation SNP G G C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr6:158014145G>C ENST00000359775.5 + 3 1421 c.532G>C c.(532-534)Gcc>Ccc p.A178P ZDHHC14_ENST00000414563.2_Missense_Mutation_p.A178P|ZDHHC14_ENST00000341375.8_3'UTR Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 178 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) GCCCCCTCGCGCCTCCCATTG 0.597000 19 54 0 0 0.693898 0 0 ACSS3 79611 broad.mit.edu 37 12 81610762 81610762 + Silent SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr12:81610762C>A ENST00000548058.1 + 10 2347 c.1437C>A c.(1435-1437)gtC>gtA p.V479V ACSS3_ENST00000261206.3_Silent_p.V478V|ACSS3_ENST00000548324.1_Silent_p.V161V Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 479 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GAAAAAGCGTCCCAGGATACA 0.383000 5 42 0.248553 0.250151 0.248553 1 0 KCNH1 3756 broad.mit.edu 37 1 211093086 211093086 + Nonsense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:211093086G>T ENST00000367007.4 - 7 1446 c.1277C>A c.(1276-1278)tCg>tAg p.S426* KCNH1_ENST00000271751.4_Nonsense_Mutation_p.S453* NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 453 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GAAATACAACGAGGAGATGTA 0.498000 24 91 6.44725e-10 8.20321e-10 0.624587 1 0 RELN 5649 broad.mit.edu 37 7 103138289 103138289 + Silent SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr7:103138289C>A ENST00000428762.1 - 55 9087 c.8928G>T c.(8926-8928)ctG>ctT p.L2976L RELN_ENST00000424685.2_Silent_p.L2976L|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.L2976L NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 2976 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AGTAGTCCAACAGCACGCCTT 0.527000 7 78 2.17888e-05 2.47996e-05 0.335167 1 0 CXorf23 256643 broad.mit.edu 37 X 19983755 19983755 + Nonsense_Mutation SNP A A C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:19983755A>C ENST00000379687.3 - 3 714 c.681T>G c.(679-681)taT>taG p.Y227* CXorf23_ENST00000356980.3_Nonsense_Mutation_p.Y227*|CXorf23_ENST00000379682.4_Nonsense_Mutation_p.Y227* NM_198279.3 NP_938020.2 A2AJT9 CX023_HUMAN chromosome X open reading frame 23 227 mitochondrion endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11 CTCTGCTTTCATACCTCTCCA 0.478000 14 126 0 0 0.479597 0 0 AKAP6 9472 broad.mit.edu 37 14 33015129 33015129 + Missense_Mutation SNP A A T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr14:33015129A>T ENST00000280979.4 + 4 1440 c.1270A>T c.(1270-1272)Agc>Tgc p.S424C AKAP6_ENST00000557354.1_Missense_Mutation_p.S424C|AKAP6_ENST00000557272.1_Missense_Mutation_p.S424C NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 424 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GATGAGCAGAAGCACCCCTTC 0.443000 25 174 0 0 0.717897 0 0 RNF180 285671 broad.mit.edu 37 5 63510244 63510244 + Nonsense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:63510244C>A ENST00000389100.4 + 4 1163 c.1091C>A c.(1090-1092)tCa>tAa p.S364* RNF180_ENST00000296615.6_Nonsense_Mutation_p.S364*|RNF180_ENST00000381081.2_Intron NM_001113561.1 NP_001107033.1 Q86T96 RN180_HUMAN ring finger protein 180 364 Interaction with ZIC2 (By similarity). integral to membrane|nuclear envelope zinc ion binding breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) GCCAATTTTTCATTGGGCAGC 0.507000 7 50 1.12685e-05 1.31606e-05 0.307466 1 0 SORL1 6653 broad.mit.edu 37 11 121474959 121474959 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr11:121474959C>T ENST00000260197.7 + 33 4706 c.4577C>T c.(4576-4578)gCc>gTc p.A1526V SORL1_ENST00000525532.1_Missense_Mutation_p.A470V|SORL1_ENST00000532694.1_Missense_Mutation_p.A372V|SORL1_ENST00000534286.1_Missense_Mutation_p.A436V|SORL1_ENST00000527934.1_Missense_Mutation_p.A141V NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1526 LDL-receptor class A 11. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GACGGGGAGGCCTGCATTGTG 0.627000 28 132 0 0 0.827153 0 0 APOB 338 broad.mit.edu 37 2 21233694 21233694 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr2:21233694C>A ENST00000233242.1 - 26 6173 c.6046G>T c.(6046-6048)Gac>Tac p.D2016Y NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2016 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGAGTTAGGTCAGCCAGAGTT 0.428000 33 64 2.87052e-16 3.88949e-16 0.812448 1 0 ELN 2006 broad.mit.edu 37 7 73470724 73470724 + Missense_Mutation SNP G G C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr7:73470724G>C ENST00000252034.7 + 20 1673 c.1274G>C c.(1273-1275)gGt>gCt p.G425A ELN_ENST00000380584.4_Missense_Mutation_p.G411A|ELN_ENST00000380562.4_Missense_Mutation_p.G425A|ELN_ENST00000429192.1_Missense_Mutation_p.G430A|ELN_ENST00000414324.1_Missense_Mutation_p.G420A|ELN_ENST00000380553.4_Missense_Mutation_p.G308A|ELN_ENST00000358929.4_Missense_Mutation_p.G425A|ELN_ENST00000380575.4_Missense_Mutation_p.G415A|ELN_ENST00000380576.5_Missense_Mutation_p.G425A|ELN_ENST00000357036.5_Missense_Mutation_p.G430A|ELN_ENST00000445912.1_Missense_Mutation_p.G425A|ELN_ENST00000458204.1_Missense_Mutation_p.G415A|ELN_ENST00000320399.6_Missense_Mutation_p.G425A|ELN_ENST00000320492.7_Intron NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 425 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) GGTGTCGGAGGTGTTCCCGGA 0.617000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 29 89 0 0 0.779181 0 0 SEMA3D 223117 broad.mit.edu 37 7 84751195 84751195 + Missense_Mutation SNP T T C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr7:84751195T>C ENST00000284136.6 - 1 56 c.13A>G c.(13-15)Aaa>Gaa p.K5E SEMA3D_ENST00000444867.1_Missense_Mutation_p.K5E NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 5 cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 CTTTCATCTTTATTAGCATTC 0.318000 4 20 0 0 0.217242 0 0 BTAF1 9044 broad.mit.edu 37 10 93784690 93784690 + Missense_Mutation SNP A A G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr10:93784690A>G ENST00000265990.6 + 35 5349 c.5041A>G c.(5041-5043)Ata>Gta p.I1681V BTAF1_ENST00000544642.1_Missense_Mutation_p.I509V NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1681 Helicase C-terminal. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) AGATGGCAGCATACCTCCTGG 0.393000 34 101 0 0 0.870114 0 0 FOXP2 93986 broad.mit.edu 37 7 114302233 114302233 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr7:114302233G>T ENST00000408937.3 + 15 2210 c.1836G>T c.(1834-1836)aaG>aaT p.K612N FOXP2_ENST00000403559.4_Missense_Mutation_p.K604N|FOXP2_ENST00000393494.2_Missense_Mutation_p.K587N|FOXP2_ENST00000393491.3_Missense_Mutation_p.K402N|FOXP2_ENST00000393489.3_Missense_Mutation_p.K495N|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.K587N|FOXP2_ENST00000393498.2_Missense_Mutation_p.K566N NM_001172766.2|NM_014491.3|NM_148898.3 NP_001166237.1|NP_055306.1|NP_683696.2 O15409 FOXP2_HUMAN forkhead box P2 587 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 GGTCACAAAAGATAACAGGGT 0.413000 8 77 5.18039e-06 6.1419e-06 0.278610 1 0 GNA11 2767 broad.mit.edu 37 19 3113402 3113402 + Missense_Mutation SNP C C G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr19:3113402C>G ENST00000078429.4 + 3 638 c.396C>G c.(394-396)atC>atG p.I132M NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 132 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) TCAGTGCCATCAAGACCCTGT 0.642000 Mis uveal melanoma 5 40 0 0 0.278610 0 0 FAM134B 54463 broad.mit.edu 37 5 16477806 16477806 + Nonsense_Mutation SNP G G C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:16477806G>C ENST00000306320.9 - 8 1051 c.965C>G c.(964-966)tCa>tGa p.S322* FAM134B_ENST00000399793.2_Nonsense_Mutation_p.S181* NM_001034850.2 NP_001030022.1 Q9H6L5 F134B_HUMAN family with sequence similarity 134, member B 322 sensory perception of pain cis-Golgi network|endoplasmic reticulum|integral to membrane breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1) 16 GTATCCTTCTGAAAGGTTGAA 0.408000 7 119 0 0 0.248553 0 0 USH2A 7399 broad.mit.edu 37 1 215824116 215824116 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:215824116C>A ENST00000366943.2 - 65 14547 c.14161G>T c.(14161-14163)Gcc>Tcc p.A4721S USH2A_ENST00000307340.3_Missense_Mutation_p.A4721S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4721 Fibronectin type-III 32. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTACTGGGGGCTTTTCCTGCA 0.493000 HNSCC(13;0.011) 34 90 2.20474e-14 2.89951e-14 0.788014 1 0 LINGO1 84894 broad.mit.edu 37 15 77908159 77908159 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr15:77908159C>T ENST00000355300.6 - 2 264 c.90G>A c.(88-90)gtG>gtA p.V30V LINGO1_ENST00000561030.1_Silent_p.V24V NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 30 negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 CTGAGCCCAGCACCAGCAGGA 0.716000 3 7 0 0 0.150653 0 0 SLC39A12 221074 broad.mit.edu 37 10 18280162 18280162 + Nonsense_Mutation SNP T T A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr10:18280162T>A ENST00000377369.2 + 8 1625 c.1352T>A c.(1351-1353)tTa>tAa p.L451* SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.L451*|SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.L451*|SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.L317* NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 451 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 CTGATGGGATTAATTGGAGGC 0.343000 3 17 0 0 0.115264 0 0 SLC25A14 9016 broad.mit.edu 37 X 129474255 129474255 + Translation_Start_Site SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:129474255G>T ENST00000218197.5 + 1 230 c.3G>T c.(1-3)atG>atT p.M1I SLC25A14_ENST00000543953.1_Intron|SLC25A14_ENST00000361980.5_Start_Codon_SNP_p.M1I|SLC25A14_ENST00000339231.3_Start_Codon_SNP_p.M1I|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000545805.1_Start_Codon_SNP_p.M1I NM_003951.2|NM_022810.1 NP_003942.1|NP_073721.1 O95258 UCP5_HUMAN solute carrier family 25 (mitochondrial carrier, brain), member 14 1 aerobic respiration|mitochondrial transport integral to plasma membrane|mitochondrial inner membrane binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1) 22 GAGGGTGAATGGGTATCTTTC 0.537000 18 140 3.51602e-12 4.54757e-12 0.575678 1 0 TCP11L1 55346 broad.mit.edu 37 11 33094160 33094160 + Missense_Mutation SNP A A G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr11:33094160A>G ENST00000334274.4 + 10 1868 c.1468A>G c.(1468-1470)Aac>Gac p.N490D TCP11L1_ENST00000324357.9_Missense_Mutation_p.N269D|TCP11L1_ENST00000432887.1_Missense_Mutation_p.N490D|TCP11L1_ENST00000531632.2_Missense_Mutation_p.N490D NM_018393.3 NP_060863.3 Q9NUJ3 T11L1_HUMAN t-complex 11, testis-specific-like 1 490 kidney(1)|liver(2)|lung(2)|skin(1) 6 GGTCAACTATAACAAGATGGT 0.498000 15 108 0 0 0.557998 0 0 BRE 9577 broad.mit.edu 37 2 28210901 28210901 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr2:28210901G>A ENST00000344773.2 + 4 385 c.247G>A c.(247-249)Gat>Aat p.D83N BRE_ENST00000361704.2_Missense_Mutation_p.D83N|BRE_ENST00000379624.1_Missense_Mutation_p.D83N|BRE_ENST00000379632.2_Missense_Mutation_p.D83N|BRE_ENST00000342045.2_Missense_Mutation_p.D83N|BRE_ENST00000603461.1_3'UTR NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 83 UEV-like 1. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) ACTGCCTCCCGATTTTATCTT 0.398000 23 278 0 0 0.693898 0 0 VTN 7448 broad.mit.edu 37 17 26696336 26696336 + Missense_Mutation SNP A A T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr17:26696336A>T ENST00000226218.4 - 4 1261 c.643T>A c.(643-645)Tgt>Agt p.C215S SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000536498.1_5'UTR NM_000638.3 NP_000629.3 P04004 VTNC_HUMAN vitronectin 215 Hemopexin-like 2. cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 13 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) TTCCCCTGACAGTTGATGCGG 0.597000 9 103 0 0 0.387290 0 0 SGCZ 137868 broad.mit.edu 37 8 13959957 13959957 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr8:13959957C>A ENST00000382080.1 - 7 1387 c.672G>T c.(670-672)caG>caT p.Q224H SGCZ_ENST00000421524.2_Missense_Mutation_p.Q177H NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 211 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CAGCACTCACCTGGACCCCAC 0.488000 3 17 0.115264 0.118287 0.115264 1 0 SEC24A 10802 broad.mit.edu 37 5 133997053 133997053 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:133997053G>T ENST00000398844.2 + 2 630 c.342G>T c.(340-342)caG>caT p.Q114H SEC24A_ENST00000322887.4_Missense_Mutation_p.Q114H NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 114 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTGCTTCTCAGAACCCAGCTA 0.498000 13 90 2.31682e-05 2.62741e-05 0.479597 1 0 ATP7A 538 broad.mit.edu 37 X 77268489 77268489 + Silent SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:77268489G>A ENST00000341514.6 + 10 2441 c.2286G>A c.(2284-2286)ttG>ttA p.L762L ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 762 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 CCTACTCTTTGATTATTCTTC 0.413000 21 288 0 0 0.681144 0 0 CAPN6 827 broad.mit.edu 37 X 110494264 110494264 + Missense_Mutation SNP T T C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:110494264T>C ENST00000324068.1 - 8 1206 c.1039A>G c.(1039-1041)Att>Gtt p.I347V CAPN6_ENST00000541758.1_Missense_Mutation_p.I92V NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 347 Domain III. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 CGGCCAAAAATAGGGTTGTTC 0.478000 47 489 0 0 0.870114 0 0 GLP1R 2740 broad.mit.edu 37 6 39053762 39053762 + Silent SNP C C G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr6:39053762C>G ENST00000373256.4 + 13 1348 c.1305C>G c.(1303-1305)ccC>ccG p.P435P NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 435 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) GCATGAAGCCCCTCAAGTGTC 0.622000 10 125 0 0 0.387290 0 0 EPHA10 284656 broad.mit.edu 37 1 38227381 38227381 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:38227381C>T ENST00000373048.4 - 3 545 c.546G>A c.(544-546)ccG>ccA p.P182P EPHA10_ENST00000427468.2_Silent_p.P182P|EPHA10_ENST00000319637.6_Silent_p.P182P NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 182 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity p.P182P(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCCGGCTGAGCGGTCCGATCT 0.657000 4 79 0 0 0.217242 0 0 PRPS2 5634 broad.mit.edu 37 X 12817442 12817442 + Missense_Mutation SNP C C A rs11542625 TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:12817442C>A ENST00000380668.5 + 2 367 c.239C>A c.(238-240)gCg>gAg p.A80E PRPS2_ENST00000398491.2_Missense_Mutation_p.A80E|PRPS2_ENST00000489404.1_Missense_Mutation_p.A80E NM_001039091.2|NM_002765.4 NP_001034180.1|NP_002756.1 P11908 PRPS2_HUMAN phosphoribosyl pyrophosphate synthetase 2 80 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 16 TGCAAGATTGCGTCATCATCC 0.507000 20 200 2.27525e-19 3.16513e-19 0.667858 1 0 HSPA4 3308 broad.mit.edu 37 5 132424158 132424158 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:132424158G>T ENST00000304858.2 + 9 1337 c.1048G>T c.(1048-1050)Gta>Tta p.V350L HSPA4_ENST00000504328.1_3'UTR NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 350 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AATCCCTGCGGTAAAAGAGAA 0.348000 7 59 5.4927e-09 6.82229e-09 0.307466 1 0 ZNF319 57567 broad.mit.edu 37 16 58031336 58031336 + Silent SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr16:58031336G>A ENST00000299237.2 - 2 1456 c.834C>T c.(832-834)taC>taT p.Y278Y NM_020807.1 NP_065858.1 Q9P2F9 ZN319_HUMAN zinc finger protein 319 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 CCGAGTGCGCGTACATGTGGC 0.637000 3 54 0 0 0.184627 0 0 MDFIC 29969 broad.mit.edu 37 7 114619572 114619572 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr7:114619572C>T ENST00000257724.3 + 4 819 c.556C>T c.(556-558)Cgc>Tgc p.R186C MDFIC_ENST00000393486.1_Missense_Mutation_p.R77C Q9P1T7 MDFIC_HUMAN MyoD family inhibitor domain containing 77 Cys-rich. activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleolus|nucleus cyclin binding|Tat protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 8 CCAACCTCAGCGCTTGCCTCA 0.383000 3 56 0 0 0.150653 0 0 CASC3 22794 broad.mit.edu 37 17 38297833 38297833 + Silent SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr17:38297833G>T ENST00000264645.7 + 3 496 c.270G>T c.(268-270)tcG>tcT p.S90S NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 90 mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 CTGTTCTCTCGGATTATGAAA 0.358000 27 85 6.00712e-18 8.24662e-18 0.760397 1 0 RRBP1 6238 broad.mit.edu 37 20 17639463 17639463 + Missense_Mutation SNP T T A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr20:17639463T>A ENST00000377813.1 - 3 1993 c.1690A>T c.(1690-1692)Aca>Tca p.T564S RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000360807.4_Intron|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000246043.4_Missense_Mutation_p.T564S Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 564 41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS]. protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 CCCTGGTTTGTAATACCCTCT 0.527000 3 51 0 0 0.184627 0 0 LPCAT2 54947 broad.mit.edu 37 16 55568378 55568378 + Silent SNP A A G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr16:55568378A>G ENST00000262134.5 + 7 970 c.786A>G c.(784-786)caA>caG p.Q262Q NM_017839.4 NP_060309.2 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 262 cellular membrane organization|platelet activating factor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 12 GGACATGGCAAGGATATACAT 0.239000 8 76 0 0 0.361761 0 0 BEST3 144453 broad.mit.edu 37 12 70049365 70049365 + Silent SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr12:70049365G>A ENST00000330891.5 - 10 1555 c.1329C>T c.(1327-1329)ccC>ccT p.P443P BEST3_ENST00000488961.1_Silent_p.P230P|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Silent_p.P337P NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 443 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) AGGCCCTGGGGGGGTTTCTTG 0.592000 4 54 0 0 0.184627 0 0 OR4N5 390437 broad.mit.edu 37 14 20612483 20612483 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr14:20612483C>T ENST00000333629.1 + 1 589 c.589C>T c.(589-591)Ctt>Ttt p.L197F NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TGTGGTGGAGCTTCTGATGGT 0.547000 5 39 0 0 0.184627 0 0 MAGI1 9223 broad.mit.edu 37 3 65342324 65342324 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr3:65342324G>A ENST00000402939.2 - 23 4117 c.4118C>T c.(4117-4119)tCt>tTt p.S1373F MAGI1_ENST00000330909.8_3'UTR NM_001033057.1 NP_001028229.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1402 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TCTCTCCAGAGACCGTCTCCG 0.711000 4 29 0 0 0.184627 0 0 MTHFD1L 25902 broad.mit.edu 37 6 151247397 151247397 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr6:151247397G>A ENST00000367321.3 + 11 1496 c.1222G>A c.(1222-1224)Gat>Aat p.D408N NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 408 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) AAGGTTAAAGGATCAAGCAGA 0.393000 16 102 0 0 0.592651 0 0 DMD 1756 broad.mit.edu 37 X 31496475 31496475 + Missense_Mutation SNP C C G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:31496475C>G ENST00000357033.4 - 59 8891 c.8685G>C c.(8683-8685)gaG>gaC p.E2895D DMD_ENST00000359836.1_Missense_Mutation_p.E435D|DMD_ENST00000378707.3_Missense_Mutation_p.E435D|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000474231.1_Missense_Mutation_p.E435D|DMD_ENST00000343523.2_Missense_Mutation_p.E435D|DMD_ENST00000378677.2_Missense_Mutation_p.E2891D|DMD_ENST00000541735.1_Missense_Mutation_p.E435D NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2895 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCTGGGCTCTCTCCTCAGGAG 0.433000 20 89 0 0 0.667858 0 0 SYNE1 23345 broad.mit.edu 37 6 152563539 152563539 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr6:152563539G>A ENST00000367255.5 - 107 20330 c.19729C>T c.(19729-19731)Cgg>Tgg p.R6577W SYNE1_ENST00000356820.4_Missense_Mutation_p.R1101W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6506W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R6189W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R6506W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R6577W NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6577 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCACTCCTCCGGGAGCCAATG 0.468000 HNSCC(10;0.0054) 25 72 0 0 0.729181 0 0 MYO5C 55930 broad.mit.edu 37 15 52553230 52553230 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr15:52553230C>A ENST00000261839.7 - 10 1303 c.1142G>T c.(1141-1143)aGc>aTc p.S381I MYO5C_ENST00000443683.2_Missense_Mutation_p.S324I|MYO5C_ENST00000541028.1_5'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 381 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) CGTCTCAGAGCTTGTGACGAT 0.532000 5 58 8.12818e-05 9.08615e-05 0.248553 1 0 ZSCAN22 342945 broad.mit.edu 37 19 58850395 58850395 + Silent SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr19:58850395G>A ENST00000329665.4 + 3 1326 c.1179G>A c.(1177-1179)acG>acA p.T393T NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 393 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) GCCAGAGCACGCACCTGACTC 0.647000 9 62 0 0 0.411799 0 0 SAP130 79595 broad.mit.edu 37 2 128699639 128699639 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr2:128699639G>T ENST00000357702.5 - 21 3324 c.3193C>A c.(3193-3195)Ctt>Att p.L1065I SAP130_ENST00000259234.6_Missense_Mutation_p.L1038I|SAP130_ENST00000259235.3_Missense_Mutation_p.L1030I NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 1030 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) TTCTTGTTAAGCAGCTTCAGG 0.403000 6 80 0.217242 0.220054 0.217242 1 0 CPEB4 80315 broad.mit.edu 37 5 173380139 173380139 + Missense_Mutation SNP A A G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:173380139A>G ENST00000265085.5 + 9 3280 c.1826A>G c.(1825-1827)tAc>tGc p.Y609C CPEB4_ENST00000334035.5_Missense_Mutation_p.Y592C|CPEB4_ENST00000520867.1_Missense_Mutation_p.Y584C|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000519835.1_Missense_Mutation_p.Y584C|CPEB4_ENST00000517880.1_Missense_Mutation_p.Y202C|CPEB4_ENST00000522336.1_Missense_Mutation_p.Y219C NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 609 RRM 2. nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GGTGTGTGCTACGCTGGGATT 0.448000 25 152 0 0 0.750413 0 0 ME2 4200 broad.mit.edu 37 18 48434439 48434439 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr18:48434439G>T ENST00000321341.5 + 3 387 c.115G>T c.(115-117)Gca>Tca p.A39S ME2_ENST00000382927.3_Missense_Mutation_p.A39S NM_002396.4 NP_002387.1 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 39 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3) 23 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) TTAGGGAATGGCATTTACTTT 0.313000 4 29 0.00909568 0.00971655 0.150653 1 0 RNF148 378925 broad.mit.edu 37 7 122342626 122342626 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr7:122342626C>A ENST00000434824.1 - 1 395 c.179G>T c.(178-180)gGa>gTa p.G60V CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000334010.7_Intron NM_198085.1 NP_932351.1 Q8N7C7 RN148_HUMAN ring finger protein 148 60 integral to membrane zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 CCCGAACACTCCACTCTCTCC 0.458000 18 48 5.45024e-15 7.25926e-15 0.654019 1 0 GDNF 2668 broad.mit.edu 37 5 37816214 37816214 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:37816214C>A ENST00000326524.2 - 3 374 c.175G>T c.(175-177)Gat>Tat p.D59Y GDNF_ENST00000381826.4_Missense_Mutation_p.D50Y|GDNF_ENST00000515058.1_Missense_Mutation_p.D33Y|GDNF_ENST00000427982.1_Missense_Mutation_p.D76Y|GDNF_ENST00000344622.4_Missense_Mutation_p.D33Y NM_000514.3 NP_000505.1 P39905 GDNF_HUMAN glial cell derived neurotrophic factor 59 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2) 15 all_lung(31;0.00118) TCGAACTGATCAGGATAATCC 0.398000 4 61 1.23904e-05 1.42058e-05 0.184627 1 0 MUC17 140453 broad.mit.edu 37 7 100679759 100679759 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr7:100679759G>A ENST00000306151.4 + 3 5126 c.5062G>A c.(5062-5064)Gga>Aga p.G1688R NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1688 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TTATACTGAAGGAAGAACTCC 0.473000 27 185 0 0 0.740014 0 0 ADCY8 114 broad.mit.edu 37 8 131922058 131922058 + Silent SNP G G A rs150100724 TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr8:131922058G>A ENST00000286355.5 - 6 3628 c.1536C>T c.(1534-1536)tcC>tcT p.S512S ADCY8_ENST00000377928.3_Silent_p.S512S NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 512 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GCACCGAGCCGGAGTGGATTC 0.473000 HNSCC(32;0.087) 16 111 0 0 0.557998 0 0 ATF5 22809 broad.mit.edu 37 19 50435876 50435876 + Missense_Mutation SNP T T C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr19:50435876T>C ENST00000423777.2 + 3 753 c.376T>C c.(376-378)Tcc>Ccc p.S126P ATF5_ENST00000595125.1_Missense_Mutation_p.S126P|CTC-326K19.6_ENST00000451973.1_Intron NM_001193646.1 NP_001180575.1 Q9Y2D1 ATF5_HUMAN activating transcription factor 5 126 Interaction with PTP4A1 (By similarity).|Poly-Pro. regulation of transcription from RNA polymerase II promoter cytoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.S126P(1) NS(1)|endometrium(2)|large_intestine(1)|skin(3) 7 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017) Cccaccaccctccccgccgcc 0.642000 5 7 0 0 0.217242 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65349331 65349331 + Silent SNP A A G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr11:65349331A>G ENST00000309295.4 + 9 1453 c.1188A>G c.(1186-1188)ccA>ccG p.P396P NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 396 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 ACACTGAGCCAAGGTCAGGAG 0.547000 6 26 0 0 0.278610 0 0 KCNT2 343450 broad.mit.edu 37 1 196227558 196227558 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:196227558G>T ENST00000367433.5 - 25 3006 c.2905C>A c.(2905-2907)Cgc>Agc p.R969S KCNT2_ENST00000367431.4_Missense_Mutation_p.R927S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.R993S|KCNT2_ENST00000451324.2_3'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 993 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TGGTTGCTGCGGTGGTGCCCT 0.468000 52 103 4.13886e-29 5.88847e-29 0.870114 1 0 AWAT1 158833 broad.mit.edu 37 X 69459684 69459684 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:69459684C>A ENST00000374521.3 + 6 773 c.732C>A c.(730-732)ttC>ttA p.F244L NM_001013579.2 NP_001013597.1 Q58HT5 AWAT1_HUMAN acyl-CoA wax alcohol acyltransferase 1 244 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1) 15 AGAGCTGCTTCCGCCGTATCT 0.507000 16 83 6.94344e-10 8.79878e-10 0.539581 1 0 MYH11 4629 broad.mit.edu 37 16 15832534 15832534 + Silent SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr16:15832534G>T ENST00000338282.6 - 24 3115 c.3009C>A c.(3007-3009)ctC>ctA p.L1003L MYH11_ENST00000576790.1_Silent_p.L1003L|MYH11_ENST00000452625.2_Silent_p.L1010L|MYH11_ENST00000300036.5_Silent_p.L1003L|MYH11_ENST00000396324.3_Silent_p.L1010L NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1003 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TCTCCTCAAGGAGTTTTCGTT 0.353000 T CBFB AML 7 53 1.12685e-05 1.31606e-05 0.307466 1 0 UTS2B 257313 broad.mit.edu 37 3 190993123 190993123 + Silent SNP T T C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr3:190993123T>C ENST00000340524.5 - 8 1038 c.252A>G c.(250-252)ctA>ctG p.L84L UTS2B_ENST00000427544.2_Silent_p.L84L NM_198152.3 NP_937795.2 urotensin 2B GCTGTTCTTTTAGCTTTTCCA 0.418000 15 65 0 0 0.500413 0 0 FAT2 2196 broad.mit.edu 37 5 150947878 150947878 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:150947878C>T ENST00000261800.5 - 1 627 c.615G>A c.(613-615)gtG>gtA p.V205V NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 205 Cadherin 2. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCTTCCCAGCCACAGTGACCA 0.537000 6 59 0 0 0.248553 0 0 ERCC4 2072 broad.mit.edu 37 16 14041714 14041714 + Missense_Mutation SNP G G T rs143357336 byFrequency TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr16:14041714G>T ENST00000311895.7 + 11 2270 c.2261G>T c.(2260-2262)cGt>cTt p.R754L NM_005236.2 NP_005227.1 Q92889 XPF_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 4 754 ERCC4.|Interaction with EME1 and ERCC1. double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 TACTACAAGCGTCCCGTGCTT 0.493000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 6 83 2.52707e-12 3.28204e-12 0.335167 1 0 SLC9A7 84679 broad.mit.edu 37 X 46618270 46618270 + Missense_Mutation SNP C C G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:46618270C>G ENST00000328306.4 - 1 220 c.195G>C c.(193-195)gaG>gaC p.E65D NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 65 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 GCCGGTGGCTCTCCTCCGCCT 0.682000 68 29 0 0 0.870114 0 0 OR10S1 219873 broad.mit.edu 37 11 123847690 123847690 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr11:123847690C>A ENST00000531945.1 - 1 798 c.709G>T c.(709-711)Gca>Tca p.A237S NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 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;0.0399) AACACAGCTGCCACGATGAAG 0.587000 11 49 1.3612e-06 1.65138e-06 0.479597 1 0 GRIA3 2892 broad.mit.edu 37 X 122532604 122532604 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:122532604C>A ENST00000264357.5 + 7 1322 c.1030C>A c.(1030-1032)Cct>Act p.P344T GRIA3_ENST00000541091.1_Missense_Mutation_p.P328T|GRIA3_ENST00000371251.1_Missense_Mutation_p.P344T|GRIA3_ENST00000371256.5_Missense_Mutation_p.P344T|GRIA3_ENST00000542149.1_Missense_Mutation_p.P344T NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 344 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) CTTAGCAAATCCTGCTGTGCC 0.473000 8 45 1.58986e-06 1.92134e-06 0.361761 1 0 PCDH11X 27328 broad.mit.edu 37 X 91133302 91133302 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:91133302C>A ENST00000373094.1 + 2 2908 c.2063C>A c.(2062-2064)tCc>tAc p.S688Y PCDH11X_ENST00000395337.2_Missense_Mutation_p.S688Y|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S688Y|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S688Y|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S688Y|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S688Y|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S688Y|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S688Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S688Y NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 688 Cadherin 7. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GTTCTACCGTCCACTAATCCA 0.423000 8 150 4.36969e-10 5.5825e-10 0.435327 1 0 GUCY1A2 2977 broad.mit.edu 37 11 106681009 106681009 + Silent SNP T T G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr11:106681009T>G ENST00000526355.1 - 5 1870 c.1402A>C c.(1402-1404)Agg>Cgg p.R468R GUCY1A2_ENST00000347596.2_Silent_p.R489R|GUCY1A2_ENST00000282249.2_Silent_p.R468R NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 468 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) TTATCCATCCTTTTCTTCAAC 0.458000 4 55 0 0 0.217242 0 0 GPM6A 2823 broad.mit.edu 37 4 176622830 176622830 + Silent SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr4:176622830C>A ENST00000280187.7 - 3 171 c.126G>T c.(124-126)ctG>ctT p.L42L GPM6A_ENST00000515090.1_Silent_p.L35L|GPM6A_ENST00000506894.1_Silent_p.L31L|GPM6A_ENST00000393658.2_Silent_p.L42L NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 42 cell surface|integral to membrane NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) AGCCACAGAACAGGGCAACAC 0.493000 15 157 5.35267e-07 6.51901e-07 0.557998 1 0 PTF1A 256297 broad.mit.edu 37 10 23482775 23482775 + Silent SNP C C G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr10:23482775C>G ENST00000376504.3 + 2 1131 c.927C>G c.(925-927)ctC>ctG p.L309L NM_178161.2 NP_835455.1 Q7RTS3 PTF1A_HUMAN pancreas specific transcription factor, 1a 309 endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent cytoplasm|transcription factor complex endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 7 CCAGAAAACTCAACAGCAAAT 0.438000 9 113 0 0 0.335167 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240908 39240908 + Silent SNP T T C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr17:39240908T>C ENST00000391417.4 + 1 450 c.450T>C c.(448-450)tgT>tgC p.C150C NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.C150C(1) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 CCTTGTGCTGTGCCTCCTCTT 0.607000 4 14 0 0 0.278610 0 0 UNC79 57578 broad.mit.edu 37 14 94107579 94107579 + Silent SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr14:94107579G>T ENST00000553484.1 + 35 6226 c.6072G>T c.(6070-6072)acG>acT p.T2024T UNC79_ENST00000256339.4_Silent_p.T1825T|UNC79_ENST00000555664.1_Silent_p.T1963T|UNC79_ENST00000393151.2_Silent_p.T2002T Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2002 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 AGCAGCCGACGGTGATGACGG 0.463000 5 23 0.0215528 0.0226376 0.217242 1 0 HAO1 54363 broad.mit.edu 37 20 7886899 7886899 + Missense_Mutation SNP T T A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr20:7886899T>A ENST00000378789.3 - 4 674 c.623A>T c.(622-624)tAt>tTt p.Y208F NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 208 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TTTAGCCACATATGCAGCAAG 0.373000 29 63 0 0 0.769981 0 0 GPR123 84435 broad.mit.edu 37 10 134884542 134884542 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr10:134884542G>A ENST00000607359.1 + 1 110 c.110G>A c.(109-111)cGg>cAg p.R37Q Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CGAGGGGGCCGGACACCACAG 0.657000 7 23 0 0 0.387290 0 0 MAML2 84441 broad.mit.edu 37 11 95825485 95825485 + Missense_Mutation SNP C C G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr11:95825485C>G ENST00000524717.1 - 2 2994 c.1710G>C c.(1708-1710)caG>caC p.Q570H NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 570 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) CAGAAGGCATCTGCTGGTTCG 0.522000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 2 5 0 0 0.115264 0 0 CFHR5 81494 broad.mit.edu 37 1 196977760 196977760 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:196977760C>A ENST00000367414.5 + 10 1785 c.1729C>A c.(1729-1731)Cca>Aca p.P577T CFHR5_ENST00000256785.4_Missense_Mutation_p.P553T NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 553 complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 ATCATCACCACCATTTCGAGC 0.363000 23 79 6.00712e-18 8.24662e-18 0.760397 1 0 PLCE1 51196 broad.mit.edu 37 10 96033397 96033397 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr10:96033397G>T ENST00000260766.3 + 19 5219 c.4585G>T c.(4585-4587)Gac>Tac p.D1529Y PLCE1_ENST00000371385.3_Missense_Mutation_p.D1221Y|PLCE1_ENST00000371375.1_Missense_Mutation_p.D1221Y|PLCE1_ENST00000371380.2_Missense_Mutation_p.D1529Y NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1529 PI-PLC X-box. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TCCTTCACCTGACCAACTCAG 0.383000 6 41 0.0215528 0.0226376 0.217242 1 0 CNKSR2 22866 broad.mit.edu 37 X 21670456 21670456 + Missense_Mutation SNP A A C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:21670456A>C ENST00000425654.2 + 21 3312 c.2832A>C c.(2830-2832)aaA>aaC p.K944N CNKSR2_ENST00000379510.3_Missense_Mutation_p.K974N NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 974 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 TTATCGATAAAGTCCTAGACA 0.358000 4 66 0 0 0.217242 0 0 C10orf95 79946 broad.mit.edu 37 10 104210870 104210870 + Missense_Mutation SNP T T A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr10:104210870T>A ENST00000239125.1 - 2 192 c.118A>T c.(118-120)Agc>Tgc p.S40C RP11-18I14.10_ENST00000473970.2_RNA|RP11-18I14.10_ENST00000492465.2_RNA|RP11-18I14.10_ENST00000594818.1_RNA|RP11-18I14.10_ENST00000494270.2_RNA|RP11-18I14.10_ENST00000596366.1_RNA|RP11-18I14.10_ENST00000596045.1_RNA NM_024886.1 NP_079162.1 Q9H7T3 CJ095_HUMAN chromosome 10 open reading frame 95 40 liver(1) 1 Colorectal(252;0.207) Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213) CCCAGGCGGCTGCTGTTCTTA 0.662000 3 19 0 0 0.184627 0 0 PTPRO 5800 broad.mit.edu 37 12 15742395 15742395 + Silent SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr12:15742395C>A ENST00000281171.4 + 25 3747 c.3417C>A c.(3415-3417)ggC>ggA p.G1139G PTPRO_ENST00000445537.2_Silent_p.G328G|PTPRO_ENST00000442921.2_Silent_p.G328G|PTPRO_ENST00000348962.2_Silent_p.G1111G|PTPRO_ENST00000542557.1_Silent_p.G300G|PTPRO_ENST00000544244.1_Silent_p.G300G NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 1139 Substrate binding (By similarity).|Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) GCAGTGCTGGCGTGGGACGGA 0.453000 37 115 1.61863e-15 2.17438e-15 0.870114 1 0 DRD3 1814 broad.mit.edu 37 3 113850099 113850099 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr3:113850099G>A ENST00000383673.2 - 6 1302 c.872C>T c.(871-873)gCg>gTg p.A291V DRD3_ENST00000295881.7_Intron|DRD3_ENST00000460779.1_Missense_Mutation_p.A291V|DRD3_ENST00000467632.1_Missense_Mutation_p.A291V NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 291 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) GAGCTTGGGCGCTATGGTGGG 0.542000 24 135 0 0 0.706142 0 0 C2orf70 339778 broad.mit.edu 37 2 26799015 26799015 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr2:26799015G>T ENST00000329615.3 + 2 351 c.320G>T c.(319-321)cGc>cTc p.R107L C2orf70_ENST00000409392.1_Silent_p.S94S NM_001105519.1 NP_001098989.1 A6NJV1 CB070_HUMAN chromosome 2 open reading frame 70 107 breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 13 GACAGCCATCGCTCCACAGAG 0.637000 13 88 0.000219431 0.00024442 0.457914 1 0 C2orf16 84226 broad.mit.edu 37 2 27804634 27804634 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr2:27804634G>A ENST00000408964.2 + 1 5246 c.5195G>A c.(5194-5196)aGa>aAa p.R1732K NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1732 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CCCTCAGAGAGAAGCCATCAC 0.562000 6 239 0 0 0.217242 0 0 SLC37A3 84255 broad.mit.edu 37 7 140037109 140037109 + Nonsense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr7:140037109C>T ENST00000326232.9 - 14 1570 c.1367G>A c.(1366-1368)tGg>tAg p.W456* SLC37A3_ENST00000340308.3_Silent_p.V355V|SLC37A3_ENST00000447932.2_Nonsense_Mutation_p.W440* NM_207113.1 NP_996996.1 Q8NCC5 SPX3_HUMAN solute carrier family 37, member 3 456 carbohydrate transport|transmembrane transport integral to membrane endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3) 24 Melanoma(164;0.0142) GTAGAAAACCCACATCCATCC 0.323000 3 31 0 0 0.150653 0 0 RACGAP1 29127 broad.mit.edu 37 12 50393004 50393004 + Nonsense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr12:50393004C>A ENST00000434422.1 - 10 1100 c.799G>T c.(799-801)Gag>Tag p.E267* RACGAP1_ENST00000427314.2_Nonsense_Mutation_p.E267*|RACGAP1_ENST00000551016.1_Nonsense_Mutation_p.E267*|RACGAP1_ENST00000454520.2_Nonsense_Mutation_p.E267*|RACGAP1_ENST00000547905.1_Nonsense_Mutation_p.E267*|RACGAP1_ENST00000547061.1_5'UTR|RACGAP1_ENST00000312377.5_Nonsense_Mutation_p.E267* Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 267 Interaction with SLC26A8. blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6) 14 GTTCTTGGCTCCAGCTGCCTG 0.453000 106 54 4.47202e-65 6.42084e-65 0.870114 1 0 BRWD3 254065 broad.mit.edu 37 X 79932311 79932311 + Missense_Mutation SNP T T G rs139074810 TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:79932311T>G ENST00000373275.4 - 41 5422 c.5206A>C c.(5206-5208)Atg>Ctg p.M1736L NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1736 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 CCTGAAAACATGGTATCAAAT 0.438000 6 61 0 0 0.248553 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456203 5456203 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr19:5456203C>T ENST00000222033.4 + 1 778 c.701C>T c.(700-702)gCg>gTg p.A234V NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 234 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) TCGGCCCACGCGCTGCTCCTG 0.682000 12 58 0 0 0.411799 0 0 MMP2 4313 broad.mit.edu 37 16 55513493 55513493 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr16:55513493C>T ENST00000219070.4 + 1 611 c.102C>T c.(100-102)atC>atT p.I34I MMP2_ENST00000570308.1_Intron NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 34 angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CGTCGCCCATCATCAAGTTCC 0.657000 3 32 0 0 0.150653 0 0 SLC34A3 142680 broad.mit.edu 37 9 140126205 140126205 + Silent SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr9:140126205G>A ENST00000538474.1 + 2 275 c.51G>A c.(49-51)gcG>gcA p.A17A SLC34A3_ENST00000361134.2_Silent_p.A17A NM_001177316.1|NM_001177317.1 NP_001170787.1|NP_001170788.1 Q8N130 NPT2C_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 3 17 cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) CTCTGGACGCGGTTGACCTAG 0.647000 23 95 0 0 0.706142 0 0 NRXN3 9369 broad.mit.edu 37 14 79434666 79434666 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr14:79434666G>A ENST00000554719.1 + 11 2491 c.2000G>A c.(1999-2001)gGa>gAa p.G667E NRXN3_ENST00000335750.5_Missense_Mutation_p.G667E NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CATCGGAGCGGACAGATCGAG 0.522000 8 64 0 0 0.335167 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160274840 160274840 + Missense_Mutation SNP G G C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr4:160274840G>C ENST00000264431.4 + 22 4229 c.3810G>C c.(3808-3810)gaG>gaC p.E1270D NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 1270 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) GAAGCTGGGAGACTCTTCCAT 0.488000 10 99 0 0 0.411799 0 0 WBSCR17 64409 broad.mit.edu 37 7 70881005 70881005 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr7:70881005G>T ENST00000333538.5 + 4 1354 c.720G>T c.(718-720)caG>caT p.Q240H WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 240 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CTACCGGGCAGGTCACTGGCT 0.577000 6 76 0.00307968 0.00337042 0.278610 1 0 KCNB2 9312 broad.mit.edu 37 8 73480285 73480285 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr8:73480285G>T ENST00000523207.1 + 2 904 c.316G>T c.(316-318)Ggg>Tgg p.G106W NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 106 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CTACCGGACCGGGAAACTCCA 0.468000 5 43 0.014758 0.0156585 0.184627 1 0 TSPYL2 64061 broad.mit.edu 37 X 53113784 53113784 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:53113784C>T ENST00000375442.4 + 2 997 c.865C>T c.(865-867)Cgc>Tgc p.R289C NM_022117.3 NP_071400.1 Q9H2G4 TSYL2_HUMAN TSPY-like 2 289 cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 19 AGACATTTTCCGCTACTTGAC 0.493000 17 181 0 0 0.592651 0 0 PRR16 51334 broad.mit.edu 37 5 120021977 120021977 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:120021977C>A ENST00000379551.2 + 3 776 c.419C>A c.(418-420)cCt>cAt p.P140H PRR16_ENST00000505123.1_Missense_Mutation_p.P93H|PRR16_ENST00000407149.2_Missense_Mutation_p.P163H|PRR16_ENST00000446965.1_Missense_Mutation_p.P93H NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 163 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) CCAGGTGGACCTAACAAAATT 0.463000 7 61 0.00448238 0.00487148 0.307466 1 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C A rs11540652 TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr17:7577538C>A ENST00000420246.2 - 7 875 c.743G>T c.(742-744)cGg>cTg p.R248L TP53_ENST00000413465.2_Missense_Mutation_p.R248L|TP53_ENST00000359597.4_Missense_Mutation_p.R248L|TP53_ENST00000455263.2_Missense_Mutation_p.R248L|TP53_ENST00000269305.4_Missense_Mutation_p.R248L|TP53_ENST00000445888.2_Missense_Mutation_p.R248L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 30 44 1.08052e-11 1.39178e-11 0.796494 1 0 THOC2 57187 broad.mit.edu 37 X 122747261 122747261 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:122747261C>A ENST00000245838.8 - 36 4697 c.4666G>T c.(4666-4668)Ggt>Tgt p.G1556C THOC2_ENST00000464992.1_5'UTR|THOC2_ENST00000491737.1_Missense_Mutation_p.G1441C|THOC2_ENST00000355725.4_Missense_Mutation_p.G1556C NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1556 Lys-rich. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 TTTTTGCCACCGGAGGAGATT 0.294000 7 49 0.0477658 0.0498356 0.307466 1 0 CFH 3075 broad.mit.edu 37 1 196706028 196706028 + Missense_Mutation SNP C C T rs62641696 byFrequency TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:196706028C>T ENST00000367429.4 + 16 2728 c.2488C>T c.(2488-2490)Cgg>Tgg p.R830W NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 830 Sushi 14. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 ACTGAATTATCGGGATGGAGA 0.343000 17 56 0 0 0.624587 0 0 IGHA2 3494 broad.mit.edu 37 14 106054582 106054582 + RNA SNP T T C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr14:106054582T>C ENST00000390539.2 - 0 150 GGGAAGTTTCTGGCGGTCACG 0.637000 12 68 0 0 0.435327 0 0 STAG1 10274 broad.mit.edu 37 3 136183774 136183774 + Missense_Mutation SNP T T A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr3:136183774T>A ENST00000383202.2 - 13 1518 c.1262A>T c.(1261-1263)tAc>tTc p.Y421F STAG1_ENST00000236698.5_Missense_Mutation_p.Y421F|STAG1_ENST00000536929.1_Intron|STAG1_ENST00000434713.2_Missense_Mutation_p.Y195F NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 421 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 ATGTGCCGAGTACACCAAGTG 0.388000 6 35 0 0 0.307466 0 0 PLB1 151056 broad.mit.edu 37 2 28764613 28764613 + Missense_Mutation SNP G G C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr2:28764613G>C ENST00000422425.2 + 13 891 c.847G>C c.(847-849)Gag>Cag p.E283Q PLB1_ENST00000327757.5_Missense_Mutation_p.E272Q NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 272 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) CAGGTACAGTGAGCAGGAGTC 0.592000 5 50 0 0 0.248553 0 0 PRDM9 56979 broad.mit.edu 37 5 23518018 23518018 + Silent SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:23518018G>T ENST00000296682.3 + 5 512 c.330G>T c.(328-330)gtG>gtT p.V110V NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 110 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CCTTAAGAGTGGAACAGCGTA 0.403000 HNSCC(3;0.000094) 10 192 9.31168e-06 1.0957e-05 0.435327 1 0 CACNB3 784 broad.mit.edu 37 12 49221499 49221499 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr12:49221499C>T ENST00000301050.2 + 13 1471 c.1272C>T c.(1270-1272)caC>caT p.H424H CACNB3_ENST00000547392.1_Silent_p.H397H|CACNB3_ENST00000547230.1_Silent_p.H383H|CACNB3_ENST00000540990.1_Silent_p.H411H|CACNB3_ENST00000536187.2_Silent_p.H423H NM_000725.3 NP_000716.2 P54284 CACB3_HUMAN calcium channel, voltage-dependent, beta 3 subunit 424 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1) 12 Verapamil(DB00661) GCTCCCGCCACCTGGAGGAGG 0.632000 25 68 0 0 0.706142 0 0 KLHL1 57626 broad.mit.edu 37 13 70681461 70681461 + Nonsense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr13:70681461G>T ENST00000377844.4 - 1 1130 c.371C>A c.(370-372)tCa>tAa p.S124* KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 124 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CTCCTCTAGTGACTCCACGTA 0.597000 6 54 2.0095e-06 2.41913e-06 0.248553 1 0 RSRC1 51319 broad.mit.edu 37 3 157841731 157841731 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr3:157841731G>T ENST00000464171.1 + 3 396 c.271G>T c.(271-273)Ggg>Tgg p.G91W RSRC1_ENST00000480820.1_Missense_Mutation_p.G91W|RSRC1_ENST00000475278.2_Missense_Mutation_p.G91W|RSRC1_ENST00000295930.3_Missense_Mutation_p.G91W|RSRC1_ENST00000312179.6_Missense_Mutation_p.G91W NM_001271834.1 NP_001258763.1 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 91 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding p.G91R(1) cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) AAGGGGTCGAGGGAAATCCTA 0.383000 22 29 7.87624e-14 1.02719e-13 0.639603 1 0 GRIN2A 2903 broad.mit.edu 37 16 9858063 9858063 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr16:9858063G>A ENST00000396573.2 - 14 3647 c.3338C>T c.(3337-3339)cCt>cTt p.P1113L GRIN2A_ENST00000404927.2_Missense_Mutation_p.P1113L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P1113L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P1113L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P1113L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P956L NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1113 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTTGTCTCTAGGGGAGCTTGA 0.488000 7 94 0 0 0.307466 0 0 TOPORS 10210 broad.mit.edu 37 9 32542600 32542600 + Missense_Mutation SNP T T A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr9:32542600T>A ENST00000360538.2 - 3 2039 c.1923A>T c.(1921-1923)agA>agT p.R641S TOPORS_ENST00000379858.1_Missense_Mutation_p.R576S NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 641 Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) TCTTTTTGTCTCTTCTCCCTC 0.428000 24 166 0 0 0.693898 0 0 HCN1 348980 broad.mit.edu 37 5 45262788 45262788 + Silent SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:45262788G>A ENST00000303230.4 - 8 1965 c.1908C>T c.(1906-1908)atC>atT p.I636I NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 636 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.I636I(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TGATGGGAGCGATTGCCTGCA 0.478000 14 124 0 0 0.539581 0 0 MFAP5 8076 broad.mit.edu 37 12 8814677 8814677 + Silent SNP C C G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr12:8814677C>G ENST00000359478.2 - 2 211 c.24G>C c.(22-24)gtG>gtC p.V8V MFAP5_ENST00000433590.2_Silent_p.V8V|MFAP5_ENST00000543369.1_Silent_p.V8V|MFAP5_ENST00000540087.1_Silent_p.V8V|MFAP5_ENST00000538107.1_5'UTR|MFAP5_ENST00000535336.1_Silent_p.V8V|MFAP5_ENST00000396549.2_Silent_p.V8V NM_003480.2 NP_003471.1 Q13361 MFAP5_HUMAN microfibrillar associated protein 5 8 microfibril extracellular matrix structural constituent breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1) 13 Lung SC(5;0.184) GAAACAGCAGCACCTTGGGTC 0.507000 7 25 0 0 0.307466 0 0 DACH2 117154 broad.mit.edu 37 X 85969643 85969643 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:85969643C>T ENST00000373131.1 + 5 1148 c.985C>T c.(985-987)Cat>Tat p.H329Y DACH2_ENST00000510272.1_Missense_Mutation_p.H123Y|DACH2_ENST00000373125.4_Missense_Mutation_p.H342Y|DACH2_ENST00000508860.1_Missense_Mutation_p.H175Y NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 342 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 TCAGATGAACCATCTCAATAC 0.448000 28 207 0 0 0.760397 0 0 SETX 23064 broad.mit.edu 37 9 135203113 135203113 + Missense_Mutation SNP T T C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr9:135203113T>C ENST00000372169.2 - 10 4054 c.3872A>G c.(3871-3873)aAg>aGg p.K1291R SETX_ENST00000393220.1_Missense_Mutation_p.K1291R|SETX_ENST00000224140.5_Missense_Mutation_p.K1291R Q7Z333 SETX_HUMAN senataxin 1291 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) ACGAGGACCCTTTTTCAGGCC 0.438000 3 64 0 0 0.115264 0 0 UBL5 59286 broad.mit.edu 37 19 9939267 9939267 + Splice_Site SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr19:9939267G>A ENST00000358666.3 + 3 240 c.e3-1 UBL5_ENST00000590068.1_Splice_Site|UBL5_ENST00000589960.1_Intron|UBL5_ENST00000586895.1_Splice_Site|UBL5_ENST00000593087.1_Intron NM_024292.3 NP_077268.1 Q9BZL1 UBL5_HUMAN ubiquitin-like 5 cytoplasm kidney(1)|lung(1) 2 TCTGCGCCCAGCACGGATGAT 0.552000 29 91 0 0 0.804634 0 0 NMUR2 56923 broad.mit.edu 37 5 151784216 151784216 + Silent SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:151784216G>A ENST00000255262.3 - 1 624 c.459C>T c.(457-459)cgC>cgT p.R153R NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 153 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) GCAGTTTGGCGCGGAACGGGT 0.637000 10 57 0 0 0.361761 0 0 DMD 1756 broad.mit.edu 37 X 32503111 32503111 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:32503111C>A ENST00000357033.4 - 21 2934 c.2728G>T c.(2728-2730)Gac>Tac p.D910Y DMD_ENST00000378677.2_Missense_Mutation_p.D906Y NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 910 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GCCACAAAGTCTGCATCCAGG 0.403000 4 57 0.00909568 0.00971655 0.150653 1 0 PLK4 10733 broad.mit.edu 37 4 128807298 128807298 + Nonsense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr4:128807298C>A ENST00000270861.5 + 5 1047 c.773C>A c.(772-774)tCa>tAa p.S258* PLK4_ENST00000514379.1_Nonsense_Mutation_p.S217*|PLK4_ENST00000515069.1_Nonsense_Mutation_p.S258*|PLK4_ENST00000513090.1_Nonsense_Mutation_p.S226*|PLK4_ENST00000507249.1_Nonsense_Mutation_p.S258* NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 258 Protein kinase. G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 AGTCTGTCTTCAGTATTGGAC 0.383000 22 116 5.45024e-15 7.25926e-15 0.654019 1 0 DTX3L 151636 broad.mit.edu 37 3 122289337 122289337 + Silent SNP A A G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr3:122289337A>G ENST00000296161.4 + 4 2160 c.1971A>G c.(1969-1971)ggA>ggG p.G657G DTX3L_ENST00000383661.3_Silent_p.G145G NM_138287.3 NP_612144.1 Q8TDB6 DTX3L_HUMAN deltex 3-like (Drosophila) 657 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) GATACCCTGGAATACAGCGAA 0.408000 5 44 0 0 0.217242 0 0 ABCA3 21 broad.mit.edu 37 16 2376171 2376171 + Silent SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr16:2376171G>A ENST00000301732.5 - 5 859 c.159C>T c.(157-159)aaC>aaT p.N53N ABCA3_ENST00000567910.1_Silent_p.N53N|ABCA3_ENST00000382381.3_Silent_p.N53N NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 53 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) AGATGGTGGCGTTGGGCACAT 0.572000 10 44 0 0 0.361761 0 0 CDH9 1007 broad.mit.edu 37 5 26881336 26881336 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:26881336C>T ENST00000231021.4 - 12 2451 c.2279G>A c.(2278-2280)tGt>tAt p.C760Y NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 760 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.C760F(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 ATCTTGGTTACAATCAGCTGT 0.453000 13 157 0 0 0.435327 0 0 HMGN5 79366 broad.mit.edu 37 X 80375302 80375302 + Silent SNP A A C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:80375302A>C ENST00000358130.2 - 3 358 c.30T>G c.(28-30)ggT>ggG p.G10G HMGN5_ENST00000491275.1_5'UTR NM_030763.2 NP_110390.1 P82970 HMGN5_HUMAN high mobility group nucleosome binding domain 5 10 chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin|nucleolus chromatin binding|DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 10 GCCTCATATCACCTTGACCTG 0.373000 5 57 0 0 0.217242 0 0 THOC2 57187 broad.mit.edu 37 X 122757749 122757749 + Missense_Mutation SNP A A T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:122757749A>T ENST00000245838.8 - 28 3423 c.3392T>A c.(3391-3393)cTt>cAt p.L1131H THOC2_ENST00000491737.1_Missense_Mutation_p.L1016H|THOC2_ENST00000355725.4_Missense_Mutation_p.L1131H NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1131 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 GTACCAAGGAAGTATTTTTGT 0.378000 7 88 0 0 0.335167 0 0 TRIP12 9320 broad.mit.edu 37 2 230642091 230642091 + Silent SNP T T C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr2:230642091T>C ENST00000283943.5 - 36 5422 c.5244A>G c.(5242-5244)tcA>tcG p.S1748S TRIP12_ENST00000389044.4_Silent_p.S1796S|TRIP12_ENST00000389045.3_Silent_p.S1478S NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1748 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GGTGATAAACTGATCTGGCTA 0.408000 14 121 0 0 0.557998 0 0 POF1B 79983 broad.mit.edu 37 X 84600995 84600995 + Silent SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:84600995G>T ENST00000262753.4 - 6 739 c.594C>A c.(592-594)gtC>gtA p.V198V POF1B_ENST00000373145.3_Silent_p.V198V NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 198 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 CAGAGTGGATGACCTGGGGCT 0.448000 6 87 0.0215528 0.0226376 0.217242 1 0 ZNF493 284443 broad.mit.edu 37 19 21606712 21606712 + Silent SNP T T C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr19:21606712T>C ENST00000392288.2 + 4 1360 c.1251T>C c.(1249-1251)tcT>tcC p.S417S CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S289S NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATAAGGAGTCTTCACACCTTA 0.348000 4 35 0 0 0.184627 0 0 ZNF518A 9849 broad.mit.edu 37 10 97918519 97918519 + RNA SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr10:97918519G>T ENST00000534948.1 + 0 3297 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) ACTTCATTGTGACCAGTCATT 0.398000 7 23 0.248553 0.250151 0.248553 1 0 FAT4 79633 broad.mit.edu 37 4 126411330 126411330 + Silent SNP T T C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr4:126411330T>C ENST00000394329.3 + 17 13366 c.13353T>C c.(13351-13353)tgT>tgC p.C4451C FAT4_ENST00000335110.5_Silent_p.C2692C NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4451 EGF-like 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GCTTCACCTGTAGCTGCCCAG 0.622000 6 61 0 0 0.248553 0 0 PGBD1 84547 broad.mit.edu 37 6 28269577 28269577 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr6:28269577C>T ENST00000405948.2 + 7 2366 c.1946C>T c.(1945-1947)aCa>aTa p.T649I PGBD1_ENST00000259883.3_Missense_Mutation_p.T649I NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 649 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 GCAACAGGAACAATTCGTGAG 0.388000 6 61 0 0 0.217242 0 0 KALRN 8997 broad.mit.edu 37 3 124103822 124103822 + Missense_Mutation SNP G G C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr3:124103822G>C ENST00000360013.3 + 11 2022 c.1895G>C c.(1894-1896)aGg>aCg p.R632T KALRN_ENST00000460856.1_Missense_Mutation_p.R632T|KALRN_ENST00000240874.3_Missense_Mutation_p.R632T NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 632 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TTCGTGCGCAGGGTGGAGCAG 0.582000 27 54 0 0 0.706142 0 0 TAF7L 54457 broad.mit.edu 37 X 100542529 100542529 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:100542529C>T ENST00000372907.3 - 2 272 c.261G>A c.(259-261)atG>atA p.M87I TAF7L_ENST00000372905.2_Start_Codon_SNP_p.M1I|TAF7L_ENST00000356784.1_Start_Codon_SNP_p.M1I|TAF7L_ENST00000324762.6_Start_Codon_SNP_p.M1I NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 87 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 GGCTTTCACTCATGTCTTGAT 0.383000 11 56 0 0 0.435327 0 0 SNHG14 104472715 broad.mit.edu 37 15 25475894 25475894 + RNA SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr15:25475894C>A ENST00000453082.2 + 0 1489 NR_003343.1 TGCACTGAAGCTCCAGCCCTT 0.607000 4 18 0.150653 0.153598 0.150653 1 0 PHKA1 5255 broad.mit.edu 37 X 71840620 71840620 + Missense_Mutation SNP C C G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:71840620C>G ENST00000339490.3 - 19 2392 c.2092G>C c.(2092-2094)Gac>Cac p.D698H PHKA1_ENST00000373539.3_Missense_Mutation_p.D698H|PHKA1_ENST00000373542.4_Missense_Mutation_p.D698H|PHKA1_ENST00000373545.3_Intron|PHKA1_ENST00000541944.1_Intron NM_001122670.1 NP_001116142.1 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 698 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) GACATTAAGTCGCAGGTTGTT 0.537000 8 84 0 0 0.411799 0 0 COL12A1 1303 broad.mit.edu 37 6 75813501 75813501 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr6:75813501C>A ENST00000322507.8 - 55 8600 c.8291G>T c.(8290-8292)aGa>aTa p.R2764I COL12A1_ENST00000416123.2_Missense_Mutation_p.R2688I|COL12A1_ENST00000483888.2_Missense_Mutation_p.R2764I|COL12A1_ENST00000345356.6_Missense_Mutation_p.R1600I NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2764 Triple-helical region (COL2) with 1 imperfection. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TCTTTCACCTCTGGGACCTTT 0.358000 6 70 0.00621372 0.00670653 0.335167 1 0 ATRX 546 broad.mit.edu 37 X 76890157 76890157 + Silent SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:76890157C>A ENST00000373344.5 - 17 4951 c.4737G>T c.(4735-4737)gtG>gtT p.V1579V ATRX_ENST00000395603.3_Silent_p.V1541V|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1579 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTGTTTTTTTCACAGACTCAC 0.368000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 25 152 1.36161e-19 1.90261e-19 0.796494 1 0 MED12 9968 broad.mit.edu 37 X 70348217 70348217 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:70348217G>A ENST00000333646.6 + 23 3480 c.3281G>A c.(3280-3282)gGa>gAa p.G1094E MED12_ENST00000374080.3_Missense_Mutation_p.G1094E|MED12_ENST00000374102.1_Missense_Mutation_p.G1094E NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1094 androgen receptor signaling pathway|negative regulation of Wnt 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|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) GAATGGCTAGGAGTGCTTAAG 0.498000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 41 165 0 0 0.859065 0 0 CES5A 221223 broad.mit.edu 37 16 55880393 55880393 + Silent SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr16:55880393G>T ENST00000521992.1 - 14 1930 c.1785C>A c.(1783-1785)ctC>ctA p.L595L CES5A_ENST00000290567.9_Silent_p.L566L|CES5A_ENST00000520435.1_Silent_p.L536L|CES5A_ENST00000518005.1_Silent_p.L460L|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Silent_p.L516L NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 566 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 AGAAAGGCTGGAGGAGAGAGA 0.468000 10 96 0.000673444 0.000744834 0.361761 1 0 OR52D1 390066 broad.mit.edu 37 11 5510860 5510860 + Silent SNP A A G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr11:5510860A>G ENST00000322641.5 + 1 946 c.924A>G c.(922-924)ctA>ctG p.L308L AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCGACTTCTAAAACTGCTTC 0.423000 11 54 0 0 0.387290 0 0 NRDE2 55051 broad.mit.edu 37 14 90764693 90764693 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr14:90764693C>A ENST00000354366.3 - 8 1809 c.1577G>T c.(1576-1578)gGa>gTa p.G526V NRDE2_ENST00000357904.3_Missense_Mutation_p.G295V NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing CCGGGGCTCTCCACTGTCCCA 0.542000 3 27 0.115264 0.118287 0.115264 1 0 PEG3 5178 broad.mit.edu 37 19 57326922 57326922 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr19:57326922C>T ENST00000326441.9 - 10 3251 c.2888G>A c.(2887-2889)cGc>cAc p.R963H ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R837H|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R963H|PEG3_ENST00000598410.1_Missense_Mutation_p.R839H|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 963 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCCTCGAGGGCGAAATGTTTG 0.473000 42 109 0 0 0.853193 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37679150 37679150 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr13:37679150C>T ENST00000379800.3 - 1 653 c.244G>A c.(244-246)Gaa>Aaa p.E82K NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 82 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) TTGTCTTTTTCCTGACCATAC 0.468000 15 57 0 0 0.520397 0 0 COL19A1 1310 broad.mit.edu 37 6 70861292 70861292 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr6:70861292G>T ENST00000322773.4 + 31 2143 c.2041G>T c.(2041-2043)Gca>Tca p.A681S COL19A1_ENST00000393344.1_Missense_Mutation_p.A303S NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 681 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 ACCACAGATTGCACTTCCTCT 0.308000 17 69 6.21321e-17 8.45537e-17 0.639603 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125298774 125298774 + Silent SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:125298774G>A ENST00000538699.1 - 2 1214 c.1134C>T c.(1132-1134)cgC>cgT p.R378R DCAF12L2_ENST00000360028.2_Silent_p.R378R NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 378 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 ACTTCTGGGCGCGGATGTCAT 0.642000 6 129 0 0 0.278610 0 0 SH3BGRL 6451 broad.mit.edu 37 X 80532613 80532613 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:80532613C>A ENST00000373212.5 + 2 434 c.176C>A c.(175-177)cCa>cAa p.P59Q SH3BGRL_ENST00000481106.1_3'UTR NM_003022.2 NP_003013.1 O75368 SH3L1_HUMAN SH3 domain binding glutamic acid-rich protein like 59 cytoplasm|nucleus SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(2)|ovary(1) 4 all_lung(315;5.94e-05) AATAGTCGACCAGCCACAGGT 0.398000 4 68 1.23904e-05 1.42058e-05 0.184627 1 0 NKAIN3 286183 broad.mit.edu 37 8 63659576 63659576 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr8:63659576C>T ENST00000523211.1 + 4 491 c.359C>T c.(358-360)cCt>cTt p.P120L NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.P120L NM_173688.2 NP_775959.1 Q8N8D7 NKAI3_HUMAN Na+/K+ transporting ATPase interacting 3 120 integral to membrane|plasma membrane kidney(3)|large_intestine(2)|lung(8) 13 Breast(64;0.127) Lung NSC(129;0.187) AGAGTGCTGCCTCCCTCAGCC 0.522000 3 42 0 0 0.150653 0 0 IFT20 90410 broad.mit.edu 37 17 26659009 26659009 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr17:26659009C>T ENST00000585089.1 - 3 351 c.81G>A c.(79-81)atG>atA p.M27I IFT20_ENST00000578985.1_Missense_Mutation_p.M27I|IFT20_ENST00000578122.1_Missense_Mutation_p.M27I|IFT20_ENST00000395418.3_Start_Codon_SNP_p.M1I|IFT20_ENST00000357896.3_Start_Codon_SNP_p.M1I|IFT20_ENST00000585313.1_Start_Codon_SNP_p.M1I|IFT20_ENST00000579419.1_Start_Codon_SNP_p.M1I NM_001267774.1 NP_001254703.1 Q8IY31 IFT20_HUMAN intraflagellar transport 20 homolog (Chlamydomonas) 1 cell projection organization centriole|cilium|Golgi apparatus|microtubule basal body protein binding lung(2) 2 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) TGTCCTTGGCCATGGCTGTAA 0.552000 34 64 0 0 0.827153 0 0 LEPR 3953 broad.mit.edu 37 1 66058391 66058391 + Silent SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:66058391G>A ENST00000349533.6 + 6 731 c.546G>A c.(544-546)caG>caA p.Q182Q LEPR_ENST00000371060.3_Silent_p.Q182Q|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Silent_p.Q182Q|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Silent_p.Q182Q|LEPR_ENST00000371059.3_Silent_p.Q182Q NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 182 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GCAGTTTTCAGATGGTTCACT 0.378000 11 69 0 0 0.479597 0 0 SYNPO2 171024 broad.mit.edu 37 4 119944647 119944647 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr4:119944647C>T ENST00000307142.4 + 2 364 c.168C>T c.(166-168)atC>atT p.I56I SYNPO2_ENST00000448416.2_Silent_p.I56I|SYNPO2_ENST00000429713.2_Silent_p.I56I|SYNPO2_ENST00000434046.2_Silent_p.I56I NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 56 PDZ. nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding p.I56I(2) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TGGTTTCCATCAATGGCAACC 0.438000 7 76 0 0 0.278610 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140870425 140870425 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:140870425G>A ENST00000252087.1 + 1 1618 c.1618G>A c.(1618-1620)Ggc>Agc p.G540S PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 540 Cadherin 5. 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) TCGAGACTCCGGCTCTCCCCC 0.537000 8 79 0 0 0.307466 0 0 SEC31B 25956 broad.mit.edu 37 10 102258531 102258531 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr10:102258531C>A ENST00000370345.3 - 14 1712 c.1615G>T c.(1615-1617)Gct>Tct p.A539S SEC31B_ENST00000494350.1_5'UTR NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 539 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GCTGAGGAAGCAGAGGCTTCC 0.527000 10 64 3.03607e-14 3.97611e-14 0.411799 1 0 PCDH19 57526 broad.mit.edu 37 X 99596916 99596916 + Nonsense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:99596916G>A ENST00000373034.4 - 5 4508 c.2833C>T c.(2833-2835)Cag>Tag p.Q945* PCDH19_ENST00000420881.2_Nonsense_Mutation_p.Q897*|PCDH19_ENST00000255531.7_Nonsense_Mutation_p.Q898* NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 945 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 TCAGGCATCTGAGATCCCATG 0.463000 9 71 0 0 0.335167 0 0 VAMP7 6845 broad.mit.edu 37 X 155125334 155125334 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:155125334C>T ENST00000286448.6 + 3 360 c.195C>T c.(193-195)atC>atT p.I65I VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000262640.6_Silent_p.I65I|VAMP7_ENST00000460621.1_Intron NM_001145149.2|NM_005638.5 NP_001138621.1|NP_005629.1 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 65 Longin. calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding large_intestine(1)|lung(8) 9 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ATCTTTGTATCACTGATGATG 0.333000 10 79 0 0 0.435327 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12941866 12941866 + Silent SNP T T C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:12941866T>C ENST00000235349.5 - 3 754 c.684A>G c.(682-684)ccA>ccG p.P228P NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 228 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGCCCAGGTATGGGGTAAACT 0.483000 45 209 0 0 0.870114 0 0 MROH2B 133558 broad.mit.edu 37 5 41058239 41058239 + Nonsense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:41058239C>A ENST00000399564.4 - 7 1132 c.682G>T c.(682-684)Gga>Tga p.G228* MROH2B_ENST00000506092.2_5'UTR NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B p.G228*(1) AGGGCGTATCCACGGAAGTCT 0.517000 3 37 1.23904e-05 1.42058e-05 0.184627 1 0 IL36RN 26525 broad.mit.edu 37 2 113819803 113819803 + Missense_Mutation SNP G G C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr2:113819803G>C ENST00000393200.2 + 4 379 c.218G>C c.(217-219)gGg>gCg p.G73A IL36RN_ENST00000346807.3_Missense_Mutation_p.G73A NM_012275.2 NP_036407.1 Q9UBH0 I36RA_HUMAN interleukin 36 receptor antagonist 73 extracellular space cytokine activity|interleukin-1 receptor antagonist activity large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 TGTGGGGTGGGGCAGGAGCCG 0.632000 9 87 0 0 0.361761 0 0 LEPROT 54741 broad.mit.edu 37 1 65895576 65895576 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:65895576C>T ENST00000371065.4 + 3 262 c.124C>T c.(124-126)Cac>Tac p.H42Y LEPR_ENST00000371060.3_Intron|LEPR_ENST00000349533.6_Intron|LEPROT_ENST00000484243.1_3'UTR|LEPR_ENST00000344610.8_Intron|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Intron NM_001198681.1|NM_017526.4 NP_001185610.1|NP_059996.1 O15243 OBRG_HUMAN leptin receptor overlapping transcript 42 endosome membrane|Golgi membrane|integral to plasma membrane kidney(1)|large_intestine(1)|lung(5) 7 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) CCTGATTTTCCACGCCATCTC 0.438000 28 171 0 0 0.796494 0 0 SPATA18 132671 broad.mit.edu 37 4 52943078 52943078 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr4:52943078C>A ENST00000295213.4 + 7 1266 c.892C>A c.(892-894)Cgc>Agc p.R298S SPATA18_ENST00000419395.2_Missense_Mutation_p.R266S NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 298 Ser-rich. mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) CAATGTGGCGCGCAAGGCTGC 0.657000 4 41 3.59834e-05 4.03684e-05 0.217242 1 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 5 44 0 0 0.184627 0 0 SHROOM2 357 broad.mit.edu 37 X 9862786 9862786 + Missense_Mutation SNP C C G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:9862786C>G ENST00000380913.3 + 4 928 c.838C>G c.(838-840)Ccc>Gcc p.P280A NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 280 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) CGGCAAAGGCCCCAGGCCAGA 0.642000 3 29 0 0 0.115264 0 0 TMEM64 169200 broad.mit.edu 37 8 91643780 91643780 + Splice_Site SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr8:91643780C>T ENST00000458549.2 - 2 1128 c.951_splice c.e2+1 p.Q317_splice TMEM64_ENST00000519519.1_Splice_Site_p.Q56_splice|TMEM64_ENST00000418210.2_Intron NM_001008495.3 NP_001008495.2 Q6YI46 TMM64_HUMAN transmembrane protein 64 317 integral to membrane endometrium(1)|large_intestine(1) 2 BRCA - Breast invasive adenocarcinoma(11;0.0598) TTAAACTCACCTGTAAACAAA 0.383000 7 79 0 0 0.278610 0 0 ROS1 6098 broad.mit.edu 37 6 117687261 117687261 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr6:117687261C>T ENST00000368508.3 - 18 2988 c.2790G>A c.(2788-2790)caG>caA p.Q930Q ROS1_ENST00000368507.3_Silent_p.Q925Q|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 930 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TAAGGGATGTCTGAATAATTG 0.378000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 11 131 0 0 0.479597 0 0 ROBO2 6092 broad.mit.edu 37 3 77651359 77651359 + Splice_Site SNP A A T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr3:77651359A>T ENST00000461745.1 + 20 3754 c.e20-1 ROBO2_ENST00000487694.3_Splice_Site|ROBO2_ENST00000332191.8_Splice_Site NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TGTTCACCACAGATGTGCTGC 0.443000 7 43 0 0 0.335167 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26431645 26431645 + RNA SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr6:26431645G>T ENST00000466808.2 + 0 1593 TGCCTCTGGTGGAAGACACGC 0.577000 27 76 7.26314e-15 9.6329e-15 0.717897 1 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 6 47 0 0 0.248553 0 0 IFT57 55081 broad.mit.edu 37 3 107938420 107938420 + Splice_Site SNP C C G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr3:107938420C>G ENST00000264538.3 - 2 460 c.e2-1 NM_018010.3 NP_060480.1 Q9NWB7 IFT57_HUMAN intraflagellar transport 57 homolog (Chlamydomonas) activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 14 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) AAAATAGTGTCTGTTTCAAAA 0.413000 12 71 0 0 0.520397 0 0 INSRR 3645 broad.mit.edu 37 1 156815425 156815425 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:156815425C>T ENST00000368195.3 - 10 2556 c.2160G>A c.(2158-2160)gcG>gcA p.A720A NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 720 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity p.A720A(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGATGGTGATCGCGTTGTGTA 0.637000 5 45 0 0 0.248553 0 0 DCAF4 26094 broad.mit.edu 37 14 73420894 73420894 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr14:73420894C>T ENST00000553457.1 + 9 821 c.531C>T c.(529-531)ctC>ctT p.L177L DCAF4_ENST00000358377.2_Silent_p.L277L|DCAF4_ENST00000509153.1_Silent_p.L217L|DCAF4_ENST00000394234.2_Silent_p.L177L|DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000555042.1_Silent_p.L278L Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 277 CUL4 RING ubiquitin ligase complex NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 CTGGCATGCTCTGCAGTTTCC 0.567000 39 252 0 0 0.870114 0 0 JMJD6 23210 broad.mit.edu 37 17 74720119 74720119 + Silent SNP T T C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr17:74720119T>C ENST00000445478.2 - 3 743 c.540A>G c.(538-540)ccA>ccG p.P180P JMJD6_ENST00000397625.4_Silent_p.P180P|JMJD6_ENST00000585429.1_Silent_p.P180P NM_001081461.1 NP_001074930.1 Q6NYC1 JMJD6_HUMAN jumonji domain containing 6 180 JmjC. mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2) 16 TTCCGGAGCGTGGTGGCCCCA 0.478000 14 89 0 0 0.557998 0 0 KLHL10 317719 broad.mit.edu 37 17 40001820 40001820 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr17:40001820G>A ENST00000293303.4 + 3 1280 c.1127G>A c.(1126-1128)cGt>cAt p.R376H NM_152467.3 NP_689680.2 Q6JEL2 KLH10_HUMAN kelch-like family member 10 376 cytoplasm breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 Breast(137;0.000162) CACTCCAGACGTTGCTATGTC 0.463000 12 61 0 0 0.411799 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806525 97806525 + Missense_Mutation SNP T T A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr3:97806525T>A ENST00000358642.2 + 1 509 c.509T>A c.(508-510)tTc>tAc p.F170Y NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 CGACTAACTTTCTGCAGGTTT 0.333000 10 77 0 0 0.411799 0 0 OR1J4 26219 broad.mit.edu 37 9 125282004 125282004 + Silent SNP T T C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr9:125282004T>C ENST00000340750.1 + 1 585 c.585T>C c.(583-585)aaT>aaC p.N195N NM_001004452.1 NP_001004452.1 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, member 4 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 TCTCCCTCAATGAGCTGGTCA 0.493000 6 42 0 0 0.248553 0 0 PUS7L 83448 broad.mit.edu 37 12 44124307 44124307 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr12:44124307C>A ENST00000416848.2 - 9 2466 c.1978G>T c.(1978-1980)Gac>Tac p.D660Y PUS7L_ENST00000344862.5_Missense_Mutation_p.D660Y|PUS7L_ENST00000431332.3_Missense_Mutation_p.D347Y|PUS7L_ENST00000551923.1_Missense_Mutation_p.D660Y NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 660 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) ACATCAATGTCATGATCTTCC 0.368000 5 89 1.23904e-05 1.42058e-05 0.184627 1 0 OR6X1 390260 broad.mit.edu 37 11 123624360 123624360 + Silent SNP A A T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr11:123624360A>T ENST00000327930.2 - 1 893 c.867T>A c.(865-867)acT>acA p.T289T NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TGTTTCTAATAGTATAAATAA 0.413000 18 90 0 0 0.592651 0 0 MKRN3 7681 broad.mit.edu 37 15 23811411 23811411 + Missense_Mutation SNP C C G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr15:23811411C>G ENST00000314520.3 + 1 958 c.482C>G c.(481-483)cCg>cGg p.P161R MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 161 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GAAGCCCCCCCGGCTGCATCC 0.642000 7 37 0 0 0.248553 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26428160 26428160 + RNA SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr6:26428160G>T ENST00000466808.2 + 0 1129 TGATTATTCTGATGATACCCA 0.413000 22 70 1.10923e-09 1.39996e-09 0.639603 1 0 TCF7 6932 broad.mit.edu 37 5 133473755 133473755 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:133473755G>T ENST00000395029.1 + 4 642 c.447G>T c.(445-447)aaG>aaT p.K149N TCF7_ENST00000378564.1_Missense_Mutation_p.K149N|TCF7_ENST00000321584.4_Missense_Mutation_p.K149N|TCF7_ENST00000342854.5_Missense_Mutation_p.K149N|TCF7_ENST00000520958.1_Missense_Mutation_p.K34N|TCF7_ENST00000321603.6_Missense_Mutation_p.K149N|TCF7_ENST00000378560.4_Missense_Mutation_p.K34N|TCF7_ENST00000518915.1_Missense_Mutation_p.K34N|TCF7_ENST00000395023.1_Missense_Mutation_p.K34N|TCF7_ENST00000432532.2_Missense_Mutation_p.K34N P36402 TCF7_HUMAN transcription factor 7 (T-cell specific, HMG-box) 149 cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(7)|lung(2)|skin(1) 12 Breast(839;0.058) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTCAGCACAAGGCCAATCAGC 0.562000 13 152 1.37522e-17 1.87967e-17 0.557998 1 0 OR13C2 392376 broad.mit.edu 37 9 107367888 107367888 + Silent SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr9:107367888G>T ENST00000542196.1 - 1 63 c.21C>A c.(19-21)acC>acA p.T7T NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 CCACCAGAATGGTGTGGTTTT 0.368000 7 41 0.000442599 0.000491254 0.335167 1 0 RARS2 57038 broad.mit.edu 37 6 88299660 88299660 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr6:88299660G>A ENST00000369536.5 - 1 61 c.16C>T c.(16-18)Cgc>Tgc p.R6C NM_020320.3 NP_064716.2 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 6 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding p.R6C(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) ATAGCGCGGCGAAAGCCGCAC 0.672000 OREG0031911 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 4 45 0 0 0.217242 0 0 MYO16 23026 broad.mit.edu 37 13 109613951 109613951 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr13:109613951C>T ENST00000356711.2 + 18 2162 c.2036C>T c.(2035-2037)gCc>gTc p.A679V MYO16_ENST00000457511.2_Missense_Mutation_p.A191V|MYO16_ENST00000251041.5_Missense_Mutation_p.A679V|MYO16_ENST00000357550.2_Missense_Mutation_p.A679V NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 679 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CGGTTTACTGCCCTGAATGAG 0.453000 10 65 0 0 0.387290 0 0 OR5D16 390144 broad.mit.edu 37 11 55606598 55606598 + Missense_Mutation SNP A A T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr11:55606598A>T ENST00000378396.1 + 1 371 c.371A>T c.(370-372)cAc>cTc p.H124L NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) GCCTATGACCACTTTGTGGCC 0.438000 23 82 0 0 0.654019 0 0 ITPR3 3710 broad.mit.edu 37 6 33632739 33632739 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr6:33632739G>T ENST00000374316.5 + 13 2301 c.1241G>T c.(1240-1242)cGg>cTg p.R414L ITPR3_ENST00000605930.1_Missense_Mutation_p.R414L Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 414 MIR 5. activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CGGCCCATCCGGCTCATGGTG 0.662000 14 34 1.5739e-10 2.01897e-10 0.500413 1 0 OR8K1 390157 broad.mit.edu 37 11 56114119 56114119 + Missense_Mutation SNP A A G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr11:56114119A>G ENST00000279783.2 + 1 699 c.605A>G c.(604-606)gAa>gGa p.E202G NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) AATGAATTAGAATTAATAATT 0.353000 HNSCC(65;0.19) 12 91 0 0 0.539581 0 0 NIPAL4 348938 broad.mit.edu 37 5 156898697 156898697 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:156898697G>A ENST00000311946.7 + 5 760 c.644G>A c.(643-645)aGt>aAt p.S215N ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.S196N NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 215 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 CTGAGGGAGAGTCTGAACCTG 0.537000 OREG0016979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 19 0 0 0.184627 0 0 SCNN1D 6339 broad.mit.edu 37 1 1225876 1225876 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:1225876C>T ENST00000338555.2 + 11 2452 c.1308C>T c.(1306-1308)ctC>ctT p.L436L SCNN1D_ENST00000379116.5_Silent_p.L600L|SCNN1D_ENST00000400928.3_Silent_p.L436L|SCNN1D_ENST00000325425.8_Silent_p.L502L sodium channel, non-voltage-gated 1, delta subunit lung(6)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) TCTACCGCCTCTACCAGGACC 0.672000 8 120 0 0 0.335167 0 0 SERPINA6 866 broad.mit.edu 37 14 94776296 94776296 + Missense_Mutation SNP A A T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr14:94776296A>T ENST00000341584.3 - 3 807 c.661T>A c.(661-663)Ttc>Atc p.F221I NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 221 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) TCCACATAGAAGTTCTCCTCC 0.552000 4 34 0 0 0.184627 0 0 EPPK1 83481 broad.mit.edu 37 8 144945228 144945228 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr8:144945228G>A ENST00000525985.1 - 2 2265 c.2194C>T c.(2194-2196)Ccc>Tcc p.P732S P58107 EPIPL_HUMAN epiplakin 1 732 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTGTGCACGGGGTCGATGACG 0.652000 7 86 0 0 0.248553 0 0 EPX 8288 broad.mit.edu 37 17 56272480 56272480 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr17:56272480C>T ENST00000225371.5 + 6 860 c.750C>T c.(748-750)ggC>ggT p.G250G NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 250 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 TCACTGCAGGCGTTGACTGTG 0.622000 9 106 0 0 0.387290 0 0 TSIX 9383 broad.mit.edu 37 X 73046437 73046437 + RNA SNP A A T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:73046437A>T ENST00000604411.1 + 0 34398 XIST_ENST00000429829.1_lincRNA NR_003255.2 AATATCTAAGAGTAAGAAGTG 0.393000 22 101 0 0 0.667858 0 0 ZNF557 79230 broad.mit.edu 37 19 7083170 7083170 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr19:7083170C>T ENST00000414706.1 + 8 1181 c.708C>T c.(706-708)taC>taT p.Y236Y ZNF557_ENST00000439035.2_Silent_p.Y229Y|ZNF557_ENST00000252840.6_Silent_p.Y236Y NM_001044387.1|NM_001044388.1|NM_024341.2 NP_001037852.1|NP_001037853.1|NP_077317.2 Q8N988 ZN557_HUMAN zinc finger protein 557 229 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 Lung(535;0.179) AGAAACCCTACGAATGCAGTG 0.443000 3 40 0 0 0.115264 0 0 ZFAND2A 90637 broad.mit.edu 37 7 1195212 1195212 + Silent SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr7:1195212G>A ENST00000401903.1 - 4 418 c.159C>T c.(157-159)caC>caT p.H53H ZFAND2A_ENST00000316495.3_Silent_p.H53H Q8N6M9 ZFN2A_HUMAN zinc finger, AN1-type domain 2A 53 H -> L (in dbSNP:rs17855544). cytoplasm|nucleus zinc ion binding lung(2)|ovary(1) 3 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15) ATACTGGGACGTGAACATCCT 0.448000 11 84 0 0 0.411799 0 0 ZNF736 728927 broad.mit.edu 37 7 63809421 63809421 + Missense_Mutation SNP G G C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr7:63809421G>C ENST00000355095.4 + 5 1502 c.1180G>C c.(1180-1182)Gag>Cag p.E394Q ZNF736_ENST00000423484.1_Missense_Mutation_p.E394Q NM_001170905.1 NP_001164376.1 B4DX44 ZN736_HUMAN zinc finger protein 736 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|stomach(1)|urinary_tract(1) 9 TCACACTGGAGAGAAACCCTA 0.408000 3 18 0 0 0.115264 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872726 51872726 + Missense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr20:51872726C>T ENST00000371497.5 + 2 3616 c.2729C>T c.(2728-2730)aCg>aTg p.T910M RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.T907M|TSHZ2_ENST00000329613.6_Missense_Mutation_p.T907M NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 910 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CTTAGGAAAACGGGCGGGACA 0.488000 6 93 0 0 0.278610 0 0 MFSD1 64747 broad.mit.edu 37 3 158531837 158531837 + Silent SNP C C T rs147447476 TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr3:158531837C>T ENST00000415822.2 + 7 921 c.780C>T c.(778-780)ctC>ctT p.L260L MFSD1_ENST00000392813.4_Silent_p.L221L|MFSD1_ENST00000264266.8_Silent_p.L211L NM_022736.2 NP_073573.2 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 1 211 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 26 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) ACACAACCCTCGGGATCACAC 0.453000 6 49 0 0 0.248553 0 0 TTC7B 145567 broad.mit.edu 37 14 91282527 91282527 + Missense_Mutation SNP A A G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr14:91282527A>G ENST00000357056.2 - 1 234 c.113T>C c.(112-114)aTc>aCc p.I38T TTC7B_ENST00000328459.6_Missense_Mutation_p.I38T Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 38 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) ACCGTTGGCGATGAGCTTGGC 0.776000 5 25 0 0 0.217242 0 0 TRIM28 10155 broad.mit.edu 37 19 59060353 59060353 + Splice_Site SNP A A G rs111246927 TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr19:59060353A>G ENST00000253024.5 + 12 1698 c.e12-1 TRIM28_ENST00000341753.6_Splice_Site NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) CTGCATCTACAGGTCCCGCTC 0.622000 3 39 0 0 0.115264 0 0 MARCH9 92979 broad.mit.edu 37 12 58150755 58150755 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr12:58150755G>A ENST00000266643.5 + 2 832 c.401G>A c.(400-402)tGc>tAc p.C134Y NM_138396.5 NP_612405.2 Q86YJ5 MARH9_HUMAN membrane-associated ring finger (C3HC4) 9 134 Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network ligase activity|zinc ion binding autonomic_ganglia(1)|large_intestine(2)|lung(1) 4 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) TCAGTGCGCTGCACGCATCAG 0.647000 OREG0021952 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 30 0 0 0.150653 0 0 BTLA 151888 broad.mit.edu 37 3 112198407 112198407 + Missense_Mutation SNP G G C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr3:112198407G>C ENST00000334529.5 - 2 500 c.298C>G c.(298-300)Cta>Gta p.L100V BTLA_ENST00000383680.4_Missense_Mutation_p.L100V NM_181780.3 NP_861445.3 Q7Z6A9 BTLA_HUMAN B and T lymphocyte associated 100 Ig-like V-type. T cell costimulation receptor activity breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1) 11 Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361) TCAAAATGTAGAATGAAAAAT 0.378000 7 74 0 0 0.278610 0 0 TRIM41 90933 broad.mit.edu 37 5 180661251 180661251 + Missense_Mutation SNP G G C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:180661251G>C ENST00000315073.5 + 6 2079 c.1369G>C c.(1369-1371)Gag>Cag p.E457Q TRIM41_ENST00000351937.5_Missense_Mutation_p.E457Q|TRIM41_ENST00000510072.1_3'UTR NM_033549.4 NP_291027.3 Q8WV44 TRI41_HUMAN tripartite motif containing 41 457 B30.2/SPRY. cytoplasm|nucleus ligase activity|protein binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCGCCTGGCAGAGCGGCGGCA 0.697000 4 85 0 0 0.248553 0 0 SCN7A 6332 broad.mit.edu 37 2 167298209 167298209 + Nonsense_Mutation SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr2:167298209C>T ENST00000409855.1 - 14 1980 c.1854G>A c.(1852-1854)tgG>tgA p.W618* NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 618 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TACTAAGAGACCACATCAAAA 0.373000 20 49 0 0 0.654019 0 0 CT47B1 643311 broad.mit.edu 37 X 120008755 120008755 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:120008755G>T ENST00000371311.3 - 1 1024 c.770C>A c.(769-771)cCc>cAc p.P257H NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 257 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 CTTACCCTCGGGGGCCACGGC 0.682000 17 110 1.55795e-14 2.05754e-14 0.608945 1 0 TENM1 10178 broad.mit.edu 37 X 123519792 123519792 + Silent SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chrX:123519792C>A ENST00000422452.2 - 29 5874 c.5811G>T c.(5809-5811)gtG>gtT p.V1937V TENM1_ENST00000371130.3_Silent_p.V1930V|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GGTAGTAGCCCACTGAAAGCA 0.512000 22 95 4.7796e-09 5.96022e-09 0.681144 1 0 RXFP1 59350 broad.mit.edu 37 4 159559173 159559173 + Missense_Mutation SNP A A T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr4:159559173A>T ENST00000307765.5 + 13 1236 c.985A>T c.(985-987)Aat>Tat p.N329Y RXFP1_ENST00000343542.5_Intron|RXFP1_ENST00000470033.1_Missense_Mutation_p.N296Y|RXFP1_ENST00000448688.2_Missense_Mutation_p.N224Y|RXFP1_ENST00000460056.2_Missense_Mutation_p.N248Y NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 329 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TCTTTCCTATAATCCAATCCA 0.299000 5 34 0 0 0.217242 0 0 PDZD2 23037 broad.mit.edu 37 5 32088396 32088396 + Silent SNP T T C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:32088396T>C ENST00000438447.1 + 20 5230 c.4842T>C c.(4840-4842)ccT>ccC p.P1614P PDZD2_ENST00000282493.3_Silent_p.P1614P O15018 PDZD2_HUMAN PDZ domain containing 2 1614 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CCTCGAGTCCTGCTCATCTTC 0.542000 63 217 0 0 0.870114 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658162 72658162 + RNA SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr7:72658162C>A ENST00000425256.1 - 0 1749 NR_002164.1 tcttcaacttctgagcacaga 0.502000 11 55 1.49906e-05 1.71243e-05 0.457914 1 0 ZFAND6 54469 broad.mit.edu 37 15 80415143 80415143 + Splice_Site SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr15:80415143G>A ENST00000261749.6 + 5 786 c.e5+1 ZFAND6_ENST00000558494.1_Splice_Site|ZFAND6_ENST00000559775.1_Splice_Site|ZFAND6_ENST00000561060.1_Splice_Site|ZFAND6_ENST00000559157.1_Splice_Site|ZFAND6_ENST00000558087.1_Splice_Site|ZFAND6_ENST00000558688.1_Splice_Site|ZFAND6_ENST00000559835.1_Splice_Site NM_001242913.1|NM_001242914.1|NM_019006.3 NP_001229842.1|NP_001229843.1|NP_061879.2 Q6FIF0 ZFAN6_HUMAN zinc finger, AN1-type domain 6 DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 GATGTGCAGGGTTTGTATATG 0.358000 9 49 0 0 0.307466 0 0 PCDH15 65217 broad.mit.edu 37 10 55582031 55582031 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr10:55582031G>T ENST00000361849.3 - 34 5855 c.5461C>A c.(5461-5463)Cct>Act p.P1821T PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1750T|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1796T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1779T|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1819T|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1816T NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1819 Poly-Pro. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ggtggtggaggaagaggagtt 0.483000 HNSCC(58;0.16) 3 22 0.115264 0.118287 0.115264 1 0 OR8J3 81168 broad.mit.edu 37 11 55904768 55904768 + Missense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr11:55904768G>T ENST00000301529.1 - 1 426 c.427C>A c.(427-429)Ctg>Atg p.L143M NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) GACACCAGCAGGAGGCAGAGC 0.473000 5 77 3.59834e-05 4.03684e-05 0.217242 1 0 HORMAD1 84072 broad.mit.edu 37 1 150691947 150691947 + Splice_Site SNP A A C TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:150691947A>C ENST00000368993.2 - 2 139 c.e2+1 HORMAD1_ENST00000368995.4_Splice_Site|HORMAD1_ENST00000322343.7_Splice_Site|HORMAD1_ENST00000361824.2_Splice_Site|HORMAD1_ENST00000476530.1_Splice_Site Q86X24 HORM1_HUMAN HORMA domain containing 1 blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3) 16 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) AAGAAATCATACCATGGGAGT 0.363000 14 52 0 0 0.557998 0 0 WDTC1 23038 broad.mit.edu 37 1 27632808 27632809 + Frame_Shift_Ins INS - - G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:27632808_27632809insG ENST00000319394.3 + 16 2503_2504 c.1968_1969insG c.(1966-1971)agggggfs p.RG656fs WDTC1_ENST00000361771.3_Frame_Shift_Ins_p.RG655fs NM_001276252.1|NM_015023.3 NP_001263181.1|NP_055838.2 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 656 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) GCCTGAGCAGTGGGGGTGCCGG 0.649 16 96 --- --- --- --- RFX5 5993 broad.mit.edu 37 1 151316295 151316295 + Frame_Shift_Del DEL G G - TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr1:151316295delG ENST00000290524.4 - 9 797 c.619delC c.(619-621)tgfs p.L207fs RFX5_ENST00000368870.2_Frame_Shift_Del_p.L207fs|RFX5_ENST00000452671.2_Frame_Shift_Del_p.L207fs|RFX5_ENST00000452513.2_Frame_Shift_Del_p.L167fs NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 207 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TCACAGGTCAGGGCACACGCT 0.577 17 177 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 2 4 --- --- --- --- LARP1 23367 broad.mit.edu 37 5 154181822 154181822 + Frame_Shift_Del DEL G G - TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr5:154181822delG ENST00000336314.4 + 11 1765 c.1741delG c.(1741-1743)ggfs p.G582fs NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 659 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CCGGCACCCAGGGGGGGACCG 0.547 7 133 --- --- --- --- TP53INP1 94241 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 9 56 --- --- --- --- NOX5 79400 broad.mit.edu 37 15 69339827 69339828 + Frame_Shift_Ins INS - - G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr15:69339827_69339828insG ENST00000260364.5 + 13 2014_2015 c.1713_1714insG c.(1711-1716)gcgcatfs p.H572fs NOX5_ENST00000388866.3_Frame_Shift_Ins_p.H590fs|NOX5_ENST00000525163.1_3'UTR|NOX5_ENST00000448182.3_Frame_Shift_Ins_p.H544fs|NOX5_ENST00000530406.2_Frame_Shift_Ins_p.H562fs|NOX5_ENST00000455873.3_Frame_Shift_Ins_p.H555fs Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 590 FAD-binding FR-type. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 TCATCGGGGCAGGCATCGGCAT 0.589 8 99 --- --- --- --- NUMBL 9253 broad.mit.edu 37 19 41173875 41173877 + In_Frame_Del DEL TGC TGC - TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr19:41173875_41173877delTGC ENST00000252891.4 - 10 1493_1495 c.1326_1328delGCA c.(1324-1329)caa>ca p.QQ444del NUMBL_ENST00000540131.1_In_Frame_Del_p.QQ403del|NUMBL_ENST00000598779.1_In_Frame_Del_p.QQ403del NM_004756.3 NP_004747.1 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 444 Poly-Gln. cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) ttgctgctgttgctgctgctgct 0.660 3 4 --- --- --- --- LIPE-AS1 100996307 broad.mit.edu 37 19 43136057 43136057 + RNA DEL T T - TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9b59dff-cdd4-4c46-961a-b3fc4a1b1920 c2315104-b35e-48ad-91c2-f2f42deb5e5e g.chr19:43136057delT ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 AGTTACTTCATTGTGTATTAC 0.478 2 4 --- --- --- ---