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 BHLHB9 80823 broad.mit.edu 37 X 102005352 102005352 + Missense_Mutation SNP G G T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chrX:102005352G>T ENST00000372735.1 + 4 2014 c.1429G>T c.(1429-1431)Gca>Tca p.A477S BHLHB9_ENST00000448867.1_Missense_Mutation_p.A477S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A477S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A477S|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A477S Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 477 cytoplasm|nucleus binding p.A477S(1) cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AAATCCAACTGCAGCCAGAGA 0.368000 21 268 4.35082e-09 7.33018e-09 0.001523 1 0 FDPS 2224 broad.mit.edu 37 1 155290372 155290372 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr1:155290372C>T ENST00000356657.6 + 11 1394 c.1232C>T c.(1231-1233)gCg>gTg p.A411V FDPS_ENST00000368356.4_Missense_Mutation_p.A411V|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.A345V NM_001135821.1 NP_001129293.1 P14324 FPPS_HUMAN farnesyl diphosphate synthase 411 cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process cytosol|nucleus dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding p.A411V(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399) CTGGGGCTTGCGCGCAAAATC 0.502000 15 48 0 0 0.004007 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89104958 89104958 + RNA SNP A A G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr2:89104958A>G ENST00000393525.3 + 0 4898 AATTCAAATCATTGATTTCTG 0.289000 2 5 0 0 0.004672 0 0 RBM15 64783 broad.mit.edu 37 1 110882747 110882747 + Silent SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr1:110882747C>T ENST00000369784.3 + 1 1620 c.720C>T c.(718-720)ctC>ctT p.L240L RBM15_ENST00000602849.1_Silent_p.L240L|RBM15_ENST00000487146.2_Silent_p.L240L NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 240 RRM 1. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding p.L240L(1) ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) GCCTGGTGCTCTATGACCGGC 0.622000 T MKL1 acute megakaryocytic leukemia OREG0013656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 78 0 0 0.004007 0 0 PSMD5 5711 broad.mit.edu 37 9 123593720 123593720 + Silent SNP T T C TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr9:123593720T>C ENST00000210313.3 - 4 524 c.450A>G c.(448-450)tcA>tcG p.S150S PSMD5-AS1_ENST00000589026.1_RNA|PSMD5_ENST00000373904.5_Intron NM_001270427.1|NM_005047.3 NP_001257356.1|NP_005038.1 Q16401 PSMD5_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 150 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding p.S150S(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1) 10 GTGATATTCTTGACAGGGATT 0.338000 4 116 0 0 0.000602 0 0 KRTAP10-7 386675 broad.mit.edu 37 21 46021597 46021597 + Missense_Mutation SNP G G T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr21:46021597G>T ENST00000380102.2 + 1 1101 c.1076G>T c.(1075-1077)tGc>tTc p.C359F TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 359 30 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 CGCCCCGCATGCTCCCGCCCA 0.662000 12 43 2.68362e-12 4.67372e-12 0.001368 1 0 TNC 3371 broad.mit.edu 37 9 117791710 117791710 + Missense_Mutation SNP C C A rs112853515 TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr9:117791710C>A ENST00000350763.4 - 25 6509 c.6098G>T c.(6097-6099)cGc>cTc p.R2033L TNC_ENST00000542877.1_Missense_Mutation_p.R1670L|TNC_ENST00000537320.1_Missense_Mutation_p.R1396L|TNC_ENST00000346706.3_Missense_Mutation_p.R1487L|TNC_ENST00000345230.3_Missense_Mutation_p.R1396L|TNC_ENST00000341037.4_Missense_Mutation_p.R1851L|TNC_ENST00000535648.1_Missense_Mutation_p.R1578L|TNC_ENST00000423613.2_Missense_Mutation_p.R1760L|TNC_ENST00000340094.3_Missense_Mutation_p.R1669L NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 2033 Fibrinogen C-terminal. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding p.R2033H(1)|p.R2033L(1) NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GAAGTTCTCGCGTCCGTTTTT 0.458000 26 116 4.22769e-11 7.20102e-11 0.006320 1 0 AUP1 550 broad.mit.edu 37 2 74755112 74755112 + Silent SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr2:74755112G>A ENST00000377526.3 - 7 1002 c.693C>T c.(691-693)cgC>cgT p.R231R NM_181575.3 NP_853553.1 Q9Y679 AUP1_HUMAN ancient ubiquitous protein 1 297 endoplasmic reticulum membrane|integral to membrane|nucleus protein binding p.R231R(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 11 CCCCTAGTTGGCGATGAACAG 0.567000 43 122 0 0 0.002852 0 0 KCNA4 3739 broad.mit.edu 37 11 30032876 30032876 + Silent SNP T T C TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr11:30032876T>C ENST00000328224.6 - 2 2583 c.1350A>G c.(1348-1350)cgA>cgG p.R450R NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 450 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity p.R450R(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 TCCGGAATACTCGGACCAGAC 0.582000 14 68 0 0 0.002450 0 0 GABRA4 2557 broad.mit.edu 37 4 46930366 46930366 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr4:46930366C>T ENST00000264318.3 - 9 2523 c.1541G>A c.(1540-1542)gGc>gAc p.G514D NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 514 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.G514D(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTTACTTGTGCCAGATCCAGA 0.433000 41 173 0 0 0.003610 0 0 RFC1 5981 broad.mit.edu 37 4 39291651 39291651 + Silent SNP T T C TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr4:39291651T>C ENST00000381897.1 - 24 3313 c.3180A>G c.(3178-3180)gcA>gcG p.A1060A RFC1_ENST00000349703.2_Silent_p.A1059A NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa 1060 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding p.A1060A(1) haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 TTGTGAAGGCTGCTTTCACCT 0.438000 47 164 0 0 0.003610 0 0 TAF2 6873 broad.mit.edu 37 8 120816177 120816177 + Silent SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr8:120816177C>T ENST00000378164.2 - 5 799 c.501G>A c.(499-501)gaG>gaA p.E167E NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 167 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding p.E167E(2) NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CCATACTTCCCTCTACACTGG 0.343000 11 235 0 0 0.001368 0 0 ALOXE3 59344 broad.mit.edu 37 17 8006764 8006764 + Missense_Mutation SNP C C A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr17:8006764C>A ENST00000380149.1 - 14 2331 c.2301G>T c.(2299-2301)caG>caT p.Q767H ALOXE3_ENST00000448843.2_Missense_Mutation_p.Q611H|ALOXE3_ENST00000318227.3_Missense_Mutation_p.Q743H Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 611 leukotriene biosynthetic process iron ion binding|lipoxygenase activity p.Q611H(1)|p.Q743H(1) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 GGGGTGGGGGCTGCCTCATGG 0.577000 5 58 0.000602214 0.000906245 0.000602 1 0 ARHGAP21 57584 broad.mit.edu 37 10 24889824 24889824 + Missense_Mutation SNP C C A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr10:24889824C>A ENST00000396432.2 - 14 3369 c.2883G>T c.(2881-2883)atG>atT p.M961I ARHGAP21_ENST00000493154.1_Intron|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.M748I NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 960 Interaction with ARF1 and ARF6.|PH. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding p.M960I(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GGACAACATACATCTGTTTCC 0.428000 11 128 4.68919e-08 7.65078e-08 0.008291 1 0 CROCCP2 84809 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 3 19 0 0 0.000248 0 0 PMS2P4 5382 broad.mit.edu 37 7 66764315 66764315 + RNA SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr7:66764315C>T ENST00000414507.1 - 0 140 CTACTAACTCCTTCACCGCAG 0.458000 57 614 0 0 0.003610 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33546240 33546240 + Nonsense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr5:33546240C>T ENST00000504830.1 - 22 4705 c.4370G>A c.(4369-4371)tGg>tAg p.W1457* ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.W1372* NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1457 TSP type-1 7. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.W1457*(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TCTTTTTGTCCAATCACAGAG 0.502000 HNSCC(64;0.19) 41 65 0 0 0.002222 0 0 CSMD3 114788 broad.mit.edu 37 8 113323388 113323388 + Nonsense_Mutation SNP G G T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr8:113323388G>T ENST00000297405.5 - 50 7948 c.7704C>A c.(7702-7704)taC>taA p.Y2568* CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Y2528*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Y2464*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Y2498* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2568 Sushi 14. integral to membrane|plasma membrane p.Y2568*(1)|p.Y2528*(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTGTACTACAGTAGAAAGCTT 0.398000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 25 58 2.39556e-15 4.26796e-15 0.002780 1 0 NCF2 4688 broad.mit.edu 37 1 183525357 183525357 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr1:183525357C>T ENST00000413720.1 - 14 1616 c.1342G>A c.(1342-1344)Gaa>Aaa p.E448K NCF2_ENST00000418089.1_Missense_Mutation_p.E412K|NCF2_ENST00000367536.1_Missense_Mutation_p.E493K|NCF2_ENST00000367535.3_Missense_Mutation_p.E493K NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 493 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding p.E493K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 TCCAGCCATTCTTCATTCACT 0.428000 9 118 0 0 0.006214 0 0 NBPF10 100132406 broad.mit.edu 37 1 145368660 145368660 + Missense_Mutation SNP G G T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr1:145368660G>T ENST00000342960.5 + 84 10673 c.10638G>T c.(10636-10638)caG>caT p.Q3546H NBPF10_ENST00000369338.1_Missense_Mutation_p.Q662H|NBPF10_ENST00000369339.2_Missense_Mutation_p.Q664H NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3546 p.Q3546H(1)|p.Q662H(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TGGTGTTCCAGATGGGAGTCA 0.448000 127 557 2.34756e-62 4.3318e-62 0.003610 1 0 ICAM1 3383 broad.mit.edu 37 19 10395637 10395637 + Silent SNP C C G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr19:10395637C>G ENST00000264832.3 + 6 1684 c.1359C>G c.(1357-1359)ggC>ggG p.G453G CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.G231G NM_000201.2 NP_000192.2 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 453 Ig-like C2-type 5. adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity p.G453G(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) ATCTTGAGGGCACCTACCTCT 0.612000 8 31 0 0 0.006214 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140782870 140782870 + Silent SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr5:140782870C>T ENST00000573521.1 + 1 351 c.351C>T c.(349-351)taC>taT p.Y117Y PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAAACTGTACGGAATAGAAA 0.498000 14 101 0 0 0.001855 0 0 DPP10 57628 broad.mit.edu 37 2 116534783 116534783 + Splice_Site SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr2:116534783G>A ENST00000410059.1 + 14 1701 c.e14-1 DPP10_ENST00000310323.8_Splice_Site|DPP10_ENST00000393147.2_Splice_Site|DPP10_ENST00000409163.1_Splice_Site NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) proteolysis integral to membrane|membrane fraction serine-type peptidase activity p.?(4) breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TTTCTTTGCAGAGTAAAAGTG 0.368000 3 40 0 0 0.004672 0 0 KAT2B 8850 broad.mit.edu 37 3 20082268 20082268 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr3:20082268G>A ENST00000263754.4 + 1 754 c.299G>A c.(298-300)tGc>tAc p.C100Y KAT2B_ENST00000426228.1_3'UTR NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 100 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding p.C100Y(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 TACTCCGCCTGCAAGGTACGC 0.711000 9 30 0 0 0.004482 0 0 XYLT1 64131 broad.mit.edu 37 16 17294482 17294482 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr16:17294482C>T ENST00000261381.6 - 4 1027 c.943G>A c.(943-945)Gag>Aag p.E315K NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 315 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity p.E315K(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ACGGAGTCCTCGTCCCACTGC 0.572000 7 222 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179596231 179596231 + Missense_Mutation SNP C C G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr2:179596231C>G ENST00000589042.1 - 59 17486 c.17262G>C c.(17260-17262)aaG>aaC p.K5754N TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K4510N|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K5437N|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5437 Ig-like 38. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.K4510N(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCAAGGAGCCCTTCAGAGTGG 0.473000 16 38 0 0 0.004007 0 0 CDH9 1007 broad.mit.edu 37 5 26903797 26903797 + Missense_Mutation SNP G G T rs143973229 TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr5:26903797G>T ENST00000231021.4 - 6 1120 c.948C>A c.(946-948)ttC>ttA p.F316L NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 316 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.F316L(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 TGATGACATCGAACATGTCTG 0.408000 18 326 8.00594e-06 1.25346e-05 0.007413 1 0 VBP1 7411 broad.mit.edu 37 X 154456755 154456755 + Silent SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chrX:154456755G>A ENST00000286428.5 + 4 492 c.375G>A c.(373-375)ctG>ctA p.L125L VBP1_ENST00000535916.1_Silent_p.L120L NM_003372.5 NP_003363.1 P61758 PFD3_HUMAN von Hippel-Lindau binding protein 1 125 'de novo' posttranslational protein folding nucleus|prefoldin complex unfolded protein binding p.L125L(1) NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 12 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) AAATGTGTCTGTGGTTGGGGG 0.403000 44 169 0 0 0.002222 0 0 ITGAV 3685 broad.mit.edu 37 2 187529903 187529903 + Missense_Mutation SNP G G T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr2:187529903G>T ENST00000261023.3 + 21 2398 c.2124G>T c.(2122-2124)caG>caT p.Q708H ITGAV_ENST00000374907.3_Missense_Mutation_p.Q672H|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.Q662H NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 708 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding p.Q708H(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) AAACTCGCCAGGTGGTATGTG 0.358000 5 51 3.59834e-05 5.57742e-05 0.001168 1 0 KLHL4 56062 broad.mit.edu 37 X 86890732 86890732 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chrX:86890732C>T ENST00000373119.4 + 9 2027 c.1882C>T c.(1882-1884)Cct>Tct p.P628S KLHL4_ENST00000373114.4_Missense_Mutation_p.P628S NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 628 cytoplasm|microtubule cytoskeleton|nucleolus actin binding p.P628S(2) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 GCATGATGCCCCTGCTTCCAA 0.408000 30 71 0 0 0.003271 0 0 PTPRN 5798 broad.mit.edu 37 2 220167372 220167372 + Missense_Mutation SNP G G T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr2:220167372G>T ENST00000295718.2 - 5 805 c.565C>A c.(565-567)Ctg>Atg p.L189M AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.L99M|PTPRN_ENST00000409251.3_Missense_Mutation_p.L189M NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 189 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity p.L189M(1) breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GGGGGCAGCAGCAGGTGCTCC 0.632000 9 53 1.08611e-07 1.75361e-07 0.000978 1 0 USH2A 7399 broad.mit.edu 37 1 216496918 216496918 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr1:216496918G>A ENST00000366943.2 - 8 1834 c.1448C>T c.(1447-1449)aCg>aTg p.T483M USH2A_ENST00000366942.3_Missense_Mutation_p.T483M|USH2A_ENST00000307340.3_Missense_Mutation_p.T483M O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 483 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.T483M(1) 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) CCTTATTTGCGTGGCTTTTAC 0.413000 HNSCC(13;0.011) 8 163 0 0 0.004482 0 0 IGSF9 57549 broad.mit.edu 37 1 159900488 159900488 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr1:159900488G>A ENST00000368094.1 - 14 2004 c.1807C>T c.(1807-1809)Ccg>Tcg p.P603S IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.P587S NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 603 Fibronectin type-III 1. cell junction|integral to membrane|synapse p.P587S(1) central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) TCACCTTCCGGAGCAGACAAG 0.607000 4 93 0 0 0.000248 0 0 MIB2 142678 broad.mit.edu 37 1 1559174 1559174 + Missense_Mutation SNP A A T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr1:1559174A>T ENST00000357210.4 + 4 658 c.442A>T c.(442-444)Atc>Ttc p.I148F MIB2_ENST00000512004.1_3'UTR|MIB2_ENST00000378708.1_Missense_Mutation_p.I90F|MIB2_ENST00000520777.1_Missense_Mutation_p.I205F|MIB2_ENST00000518681.1_Missense_Mutation_p.I205F|MIB2_ENST00000378712.1_Missense_Mutation_p.I90F|MIB2_ENST00000360522.4_Missense_Mutation_p.I148F|MIB2_ENST00000505820.2_Missense_Mutation_p.I205F|MIB2_ENST00000378710.3_Missense_Mutation_p.I148F|MIB2_ENST00000504599.1_Missense_Mutation_p.I104F|MIB2_ENST00000355826.5_Missense_Mutation_p.I191F NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 148 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.I148F(1) central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CCCCAACATCATCTGTGACTG 0.677000 3 13 0 0 0.004672 0 0 MYT1 4661 broad.mit.edu 37 20 62854714 62854714 + Splice_Site SNP T T C TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr20:62854714T>C ENST00000536311.1 + 16 2973 c.e16+2 MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Splice_Site Q01538 MYT1_HUMAN myelin transcription factor 1 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) TGACCTCAAGTATGTTTGCGC 0.552000 127 166 0 0 0.003610 0 0 VWA3B 200403 broad.mit.edu 37 2 98916570 98916570 + Missense_Mutation SNP T T C TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr2:98916570T>C ENST00000477737.1 + 25 3515 c.3311T>C c.(3310-3312)gTg>gCg p.V1104A VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1104 p.V1104A(1) NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GCCAAAATTGTGATACCCAAA 0.373000 42 192 0 0 0.003214 0 0 ZMYM5 9205 broad.mit.edu 37 13 20411811 20411811 + Silent SNP A A G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr13:20411811A>G ENST00000337963.4 - 6 1287 c.1023T>C c.(1021-1023)tgT>tgC p.C341C ZMYM5_ENST00000382907.4_3'UTR|ZMYM5_ENST00000382905.4_Silent_p.C341C NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 341 nucleus zinc ion binding p.C341C(2) kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) CTAATTTACTACAAATTGTAC 0.299000 42 35 0 0 0.002522 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723154 58723154 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr11:58723154G>A ENST00000300079.5 + 7 706 c.656G>A c.(655-657)cGa>cAa p.R219Q RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.R188Q NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 188 mitochondrion glycine N-acyltransferase activity p.R219Q(1)|p.R188Q(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) AACTGGAAGCGAGGGAAGAAT 0.498000 21 47 0 0 0.002299 0 0 UGGT1 56886 broad.mit.edu 37 2 128867293 128867293 + Missense_Mutation SNP A A G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr2:128867293A>G ENST00000375990.3 + 5 825 c.422A>G c.(421-423)gAg>gGg p.E141G UGGT1_ENST00000259253.6_Missense_Mutation_p.E165G Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 165 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding p.E165G(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 GATACCCTTGAGGCTCTTCTA 0.408000 3 98 0 0 0.000248 0 0 TEC 7006 broad.mit.edu 37 4 48151596 48151596 + Missense_Mutation SNP T T A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr4:48151596T>A ENST00000381501.3 - 11 1141 c.984A>T c.(982-984)gaA>gaT p.E328D TEC_ENST00000511471.2_5'UTR NM_003215.2 NP_003206.2 P42680 TEC_HUMAN tec protein tyrosine kinase 328 SH2. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.E328D(1) breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 GCTTATGATATTCAATAATCT 0.353000 21 72 0 0 0.003330 0 0 AEBP1 165 broad.mit.edu 37 7 44149709 44149709 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr7:44149709C>T ENST00000223357.3 + 10 1551 c.1246C>T c.(1246-1248)Cgg>Tgg p.R416W NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 416 F5/8 type C.|Required for DNA-binding and interaction with NFKBIA (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R416W(1) NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 ACAGCGCGGCCGGCTCAACAT 0.652000 10 53 0 0 0.008291 0 0 KLF17 128209 broad.mit.edu 37 1 44595592 44595592 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr1:44595592G>A ENST00000372299.3 + 2 707 c.649G>A c.(649-651)Gcc>Acc p.A217T KLF17_ENST00000476802.1_Intron NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 217 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.A217T(2) NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) CCCGCAAGATGCCCATGACCT 0.567000 35 64 0 0 0.003271 0 0 MRPS5 64969 broad.mit.edu 37 2 95774073 95774073 + Missense_Mutation SNP T T G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr2:95774073T>G ENST00000272418.2 - 5 692 c.484A>C c.(484-486)Aag>Cag p.K162Q NM_031902.3 NP_114108.1 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 162 translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome p.K162Q(1) central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 TGCTCTTCCTTGCTTCTTTGG 0.478000 43 150 0 0 0.003610 0 0 CWC27 10283 broad.mit.edu 37 5 64070566 64070566 + Missense_Mutation SNP A A G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr5:64070566A>G ENST00000508024.1 + 2 292 c.91A>G c.(91-93)Aaa>Gaa p.K31E CWC27_ENST00000381070.3_Missense_Mutation_p.K31E Q6UX04 CWC27_HUMAN CWC27 spliceosome-associated protein homolog (S. cerevisiae) 31 PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity p.K31E(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1) 21 GTTGTGGTCCAAAGAAGCTCC 0.279000 36 133 0 0 0.004878 0 0 MIS18BP1 55320 broad.mit.edu 37 14 45687540 45687540 + Silent SNP T T C TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr14:45687540T>C ENST00000310806.4 - 12 3245 c.2787A>G c.(2785-2787)aaA>aaG p.K929K NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 929 SANT. cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding p.K929K(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 TCTGGGATCCTTTTCCTCTGG 0.438000 3 157 0 0 0.000602 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154987882 154987882 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr1:154987882G>A ENST00000368426.3 + 3 883 c.746G>A c.(745-747)gGg>gAg p.G249E ZBTB7B_ENST00000417934.2_Missense_Mutation_p.G283E|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.G249E|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.G249E NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 249 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.G249E(1) endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGGGGCAGTGGGCCGGGGGAC 0.647000 8 18 0 0 0.004482 0 0 MYO9B 4650 broad.mit.edu 37 19 17213241 17213241 + Silent SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr19:17213241G>A ENST00000595618.1 + 2 866 c.714G>A c.(712-714)tcG>tcA p.S238S MYO9B_ENST00000593411.1_3'UTR|MYO9B_ENST00000397274.2_Silent_p.S238S|MYO9B_ENST00000594824.1_Silent_p.S238S NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 238 Myosin head-like. IS -> YP (in Ref. 1; AAC50402). actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity p.S238S(2) breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 TCGTGATCTCGGGTGAGAGCG 0.642000 7 69 0 0 0.001984 0 0 REG3A 5068 broad.mit.edu 37 2 79384709 79384709 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr2:79384709G>A ENST00000393878.1 - 4 703 c.449C>T c.(448-450)tCg>tTg p.S150L REG3A_ENST00000305165.2_Missense_Mutation_p.S150L|REG3A_ENST00000409839.3_Missense_Mutation_p.S150L NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 150 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding p.S150L(2)|p.S150W(1) breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 TGTGCTTCTCGACAGGCTCGC 0.527000 29 93 0 0 0.007291 0 0 MOCOS 55034 broad.mit.edu 37 18 33775220 33775220 + Splice_Site SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr18:33775220G>A ENST00000261326.5 + 2 164 c.142_splice c.e2-1 p.G48_splice NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 48 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding p.G48E(1) breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) TTTCTTTCAGGAACTGTCTAT 0.403000 9 114 0 0 0.004482 0 0 SLC22A6 9356 broad.mit.edu 37 11 62744846 62744846 + Nonsense_Mutation SNP C C A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr11:62744846C>A ENST00000377871.3 - 9 1641 c.1375G>T c.(1375-1377)Gga>Tga p.G459* SLC22A6_ENST00000360421.4_Nonsense_Mutation_p.G459*|SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000421062.2_Intron NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 459 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding p.G459*(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CTGCCCATTCCCATGCCTGTC 0.612000 3 18 0.004672 0.00689676 0.004672 1 0 CDH18 1016 broad.mit.edu 37 5 19612631 19612631 + Missense_Mutation SNP C C A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr5:19612631C>A ENST00000507958.1 - 8 1713 c.723G>T c.(721-723)atG>atT p.M241I CDH18_ENST00000274170.4_Missense_Mutation_p.M241I|CDH18_ENST00000511273.1_Missense_Mutation_p.M241I|CDH18_ENST00000502796.1_Missense_Mutation_p.M241I|CDH18_ENST00000506372.1_Missense_Mutation_p.M241I|CDH18_ENST00000382275.1_Missense_Mutation_p.M241I Q13634 CAD18_HUMAN cadherin 18, type 2 241 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.M241I(2) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CTTGCCCAGCCATGTCTTTGG 0.418000 26 88 6.36457e-07 1.01702e-06 0.003954 1 0 ABCA4 24 broad.mit.edu 37 1 94543389 94543389 + Missense_Mutation SNP C C T rs1800548 byFrequency TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr1:94543389C>T ENST00000370225.3 - 11 1497 c.1411G>A c.(1411-1413)Gaa>Aaa p.E471K ABCA4_ENST00000535735.1_Missense_Mutation_p.E471K NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 471 E -> K (in ARMD2 and STGD1; ATP-binding capacity and retinal stimulation as in wild-type; dbSNP:rs1800548). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances p.E471*(1)|p.E471K(1) NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GTAATACCTTCTTCACCAAGC 0.463000 8 240 0 0 0.003080 0 0 HRNR 388697 broad.mit.edu 37 1 152193005 152193005 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr1:152193005C>T ENST00000368801.2 - 3 1175 c.1100G>A c.(1099-1101)gGc>gAc p.G367D FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 367 keratinization calcium ion binding|protein binding p.G367D(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGACCTGAGCCAGAACCATG 0.552000 15 198 0 0 0.004990 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17966799 17966799 + Splice_Site SNP T T G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr1:17966799T>G ENST00000361221.3 + 21 2431 c.e21+2 ARHGEF10L_ENST00000375408.3_Splice_Site|ARHGEF10L_ENST00000469726.1_Splice_Site|ARHGEF10L_ENST00000375415.1_Splice_Site|ARHGEF10L_ENST00000434513.1_Splice_Site|ARHGEF10L_ENST00000452522.1_Splice_Site|ARHGEF10L_ENST00000167825.4_Splice_Site NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity p.?(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) TCGGACTCCGTGAGTATAGCC 0.602000 5 23 0 0 0.000602 0 0 OR4C6 219432 broad.mit.edu 37 11 55432857 55432857 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr11:55432857C>T ENST00000314259.3 + 1 244 c.215C>T c.(214-216)tCa>tTa p.S72L NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S72L(1) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 GTCATGTTCTCATCTGTCGTT 0.433000 6 173 0 0 0.001168 0 0 BLM 641 broad.mit.edu 37 15 91341436 91341436 + Missense_Mutation SNP A A G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr15:91341436A>G ENST00000355112.3 + 17 3345 c.3227A>G c.(3226-3228)gAt>gGt p.D1076G BLM_ENST00000560509.1_Missense_Mutation_p.D1076G|BLM_ENST00000560136.1_3'UTR NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 1076 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding p.D1076G(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) AAAACAAGAGATGTGACTGAC 0.294000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 7 57 0 0 0.001984 0 0 TBL2 26608 broad.mit.edu 37 7 72985560 72985560 + Silent SNP G G T rs150420769 TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr7:72985560G>T ENST00000305632.5 - 6 1078 c.837C>A c.(835-837)tcC>tcA p.S279S TBL2_ENST00000432538.1_Silent_p.S243S|TBL2_ENST00000459913.1_5'UTR NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 279 p.S279S(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) GCACAGCCGCGGAGTGGCCCT 0.572000 6 66 0.000157383 0.000241529 0.003080 1 0 ZFP91 80829 broad.mit.edu 37 11 58378451 58378451 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr11:58378451G>A ENST00000316059.6 + 5 817 c.646G>A c.(646-648)Gag>Aag p.E216K ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E216K NM_001197051.1|NM_053023.4 NP_001183980.1|NP_444251.1 Q96JP5 ZFP91_HUMAN ZFP91 zinc finger protein 216 Glu-rich. activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding p.E216K(2) cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) GGAGGAAGAAGAGATGTTAAT 0.383000 3 82 0 0 0.000248 0 0 VPS13C 54832 broad.mit.edu 37 15 62333557 62333557 + Missense_Mutation SNP C C G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr15:62333557C>G ENST00000261517.5 - 3 226 c.153G>C c.(151-153)ttG>ttC p.L51F VPS13C_ENST00000395896.4_Missense_Mutation_p.L51F|VPS13C_ENST00000249837.3_Missense_Mutation_p.L51F|VPS13C_ENST00000395898.3_Missense_Mutation_p.L51F NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 51 protein localization p.L51F(2) NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 AAGGAACATCCAATTCACTCT 0.318000 16 49 0 0 0.007413 0 0 PNMA3 29944 broad.mit.edu 37 X 152226180 152226180 + Silent SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chrX:152226180C>T ENST00000447306.1 + 2 1104 c.768C>T c.(766-768)gcC>gcT p.A256A PNMA3_ENST00000370264.4_Silent_p.A256A|PNMA3_ENST00000370265.4_Silent_p.A256A NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 256 apoptosis nucleolus nucleic acid binding|zinc ion binding p.A256A(2) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) tgtgtaaagcctatcaggagg 0.488000 8 231 0 0 0.003080 0 0 MPDZ 8777 broad.mit.edu 37 9 13162689 13162689 + Splice_Site SNP C C A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr9:13162689C>A ENST00000319217.7 - 23 3607 c.e23+1 MPDZ_ENST00000538841.1_Splice_Site|MPDZ_ENST00000381022.2_Splice_Site|MPDZ_ENST00000381015.4_Splice_Site|MPDZ_ENST00000536827.1_Splice_Site|MPDZ_ENST00000546205.1_Splice_Site|MPDZ_ENST00000447879.1_Splice_Site|MPDZ_ENST00000541718.1_Splice_Site NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding p.?(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) GTTTCACTTACCTGCCAGTGT 0.378000 15 53 4.14922e-12 7.14587e-12 0.004007 1 0 ERC2 26059 broad.mit.edu 37 3 56330169 56330169 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr3:56330169G>A ENST00000288221.6 - 3 1207 c.952C>T c.(952-954)Cca>Tca p.P318S NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 318 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding p.P318S(2) breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CTTTTGGATGGCAAGCCTTTA 0.458000 6 327 0 0 0.001168 0 0 FBXO4 26272 broad.mit.edu 37 5 41934094 41934094 + Silent SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr5:41934094C>T ENST00000296812.2 + 4 749 c.693C>T c.(691-693)ttC>ttT p.F231F FBXO4_ENST00000509134.1_Silent_p.F231F|FBXO4_ENST00000281623.3_Silent_p.F231F NM_033484.2 NP_277019.1 Q9UKT5 FBX4_HUMAN F-box protein 4 231 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity p.F231F(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2) 27 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) AACATAAATTCAACATTCTAA 0.328000 33 72 0 0 0.004289 0 0 VPS13A 23230 broad.mit.edu 37 9 79946930 79946930 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr9:79946930G>A ENST00000360280.3 + 46 6256 c.5996G>A c.(5995-5997)aGa>aAa p.R1999K VPS13A_ENST00000357409.5_Missense_Mutation_p.R1999K|VPS13A_ENST00000376634.4_Missense_Mutation_p.R1999K|VPS13A_ENST00000376636.3_Missense_Mutation_p.R1960K NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1999 Golgi to endosome transport|protein transport intracellular protein binding p.R1999K(3) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TCCCAGATAAGAAATCATTTT 0.323000 5 189 0 0 0.000602 0 0 TTLL3 26140 broad.mit.edu 37 3 9867508 9867508 + Silent SNP C C A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr3:9867508C>A ENST00000383827.1 + 2 2395 c.114C>A c.(112-114)ctC>ctA p.L38L TTLL3_ENST00000426895.4_Silent_p.L393L|ARPC4-TTLL3_ENST00000397256.1_Silent_p.L311L|TTLL3_ENST00000397241.1_Silent_p.L38L|TTLL3_ENST00000547186.1_Silent_p.L250L|TTLL3_ENST00000455274.1_Silent_p.L38L|TTLL3_ENST00000430793.1_Silent_p.L38L|TTLL3_ENST00000427853.3_Silent_p.L38L Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 250 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity p.L250L(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) TCAGGCACCTCGACACTCAGG 0.587000 14 45 3.27435e-08 5.3992e-08 0.002450 1 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 103 0 0 0.001168 0 0 SBF2 81846 broad.mit.edu 37 11 9834135 9834135 + Missense_Mutation SNP T T C TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr11:9834135T>C ENST00000256190.8 - 30 4236 c.4099A>G c.(4099-4101)Act>Gct p.T1367A NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 1367 Myotubularin phosphatase. myelination cytoplasm|membrane phosphatase activity|protein binding p.T1367A(1) breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TCTGAGTCAGTAGGGATGGTG 0.428000 38 151 0 0 0.003755 0 0 PEG3 5178 broad.mit.edu 37 19 57325604 57325604 + Silent SNP G G A rs141987198 byFrequency TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr19:57325604G>A ENST00000326441.9 - 10 4569 c.4206C>T c.(4204-4206)gcC>gcT p.A1402A ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.A1278A|PEG3_ENST00000423103.2_Silent_p.A1402A|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.A1276A|ZIM2_ENST00000593711.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1402 3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A1402A(2) 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) CTTCTGGCTCGGCAGCCTCCA 0.577000 15 102 0 0 0.007413 0 0 KATNAL1 84056 broad.mit.edu 37 13 30829613 30829613 + Missense_Mutation SNP C C A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr13:30829613C>A ENST00000380615.3 - 4 630 c.463G>T c.(463-465)Gac>Tac p.D155Y KATNAL1_ENST00000380617.3_Missense_Mutation_p.D155Y NM_032116.4 NP_115492.1 Q9BW62 KATL1_HUMAN katanin p60 subunit A-like 1 155 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity p.D155Y(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3) 19 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) GCTCTATAGTCCTTGTCCCTA 0.463000 114 266 2.19568e-55 4.00388e-55 0.003610 1 0 PSEN1 5663 broad.mit.edu 37 14 73659504 73659504 + Missense_Mutation SNP C C A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr14:73659504C>A ENST00000324501.5 + 7 973 c.701C>A c.(700-702)gCc>gAc p.A234D PSEN1_ENST00000357710.4_Missense_Mutation_p.A230D|PSEN1_ENST00000557511.1_Missense_Mutation_p.A234D|PSEN1_ENST00000394164.1_Missense_Mutation_p.A230D|PSEN1_ENST00000261970.3_Missense_Mutation_p.A234D|PSEN1_ENST00000406768.1_Missense_Mutation_p.A142D|PSEN1_ENST00000344094.3_Missense_Mutation_p.A234D NM_000021.3|NM_007318.2 NP_000012.1|NP_015557.2 P49768 PSN1_HUMAN presenilin 1 234 amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding p.A234D(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) GCCCTCATGGCCCTGGTGTTT 0.448000 9 172 1.76689e-08 2.94482e-08 0.006214 1 0 CXCR2 3579 broad.mit.edu 37 2 218999975 218999975 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr2:218999975G>A ENST00000318507.2 + 3 878 c.451G>A c.(451-453)Gcc>Acc p.A151T NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 151 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity p.A151T(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 CATTGTCCATGCCACACGCAC 0.537000 8 71 0 0 0.006214 0 0 BCORL1 63035 broad.mit.edu 37 X 129171500 129171500 + Silent SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chrX:129171500C>T ENST00000540052.1 + 8 4508 c.4464C>T c.(4462-4464)gaC>gaT p.D1488D BCORL1_ENST00000359304.2_Silent_p.D1358D|BCORL1_ENST00000303743.5_Silent_p.D1562D|BCORL1_ENST00000218147.7_Silent_p.D1488D NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1488 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.D1488D(1) breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 GTGCGCAGGACGGCACGAGGC 0.647000 6 94 0 0 0.001168 0 0 IBSP 3381 broad.mit.edu 37 4 88732809 88732809 + Missense_Mutation SNP G G T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr4:88732809G>T ENST00000226284.5 + 7 768 c.701G>T c.(700-702)gGg>gTg p.G234V NM_004967.3 NP_004958.2 P21815 SIAL_HUMAN integrin-binding sialoprotein 234 biomineral tissue development|cell adhesion|ossification p.G234V(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) CCAAATGGTGGGTTTGAACCT 0.532000 9 39 7.48243e-07 1.18345e-06 0.006214 1 0 MUC16 94025 broad.mit.edu 37 19 9089879 9089879 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr19:9089879C>T ENST00000397910.4 - 1 2139 c.1936G>A c.(1936-1938)Ggt>Agt p.G646S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 646 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.G646S(2) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTGGGACACCGTTCGTGGCC 0.562000 10 149 0 0 0.000978 0 0 CTC1 80169 broad.mit.edu 37 17 8138437 8138437 + Missense_Mutation SNP C C A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr17:8138437C>A ENST00000315684.8 - 8 1380 c.1373G>T c.(1372-1374)tGg>tTg p.W458L NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 458 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding p.W458L(1) NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 CTGACGTTCCCACACCAGCTG 0.642000 13 52 0.000219431 0.00033345 0.002450 1 0 FRG1B 284802 broad.mit.edu 37 20 29628296 29628296 + Nonsense_Mutation SNP A A T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr20:29628296A>T ENST00000278882.3 + 6 678 c.298A>T c.(298-300)Aaa>Taa p.K100* FRG1B_ENST00000439954.2_Nonsense_Mutation_p.K105*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.K100* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CATAGAAGCAAAAAGTAAAAC 0.363000 4 50 0 0 0.000602 0 0 NF1 4763 broad.mit.edu 37 17 29490291 29490291 + Nonsense_Mutation SNP G G T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr17:29490291G>T ENST00000358273.4 + 4 759 c.376G>T c.(376-378)Gaa>Taa p.E126* NF1_ENST00000356175.3_Nonsense_Mutation_p.E126*|NF1_ENST00000431387.4_Nonsense_Mutation_p.E126* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 126 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4)|p.E126*(2) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CACCTGTCGTGAAGGAAACCA 0.423000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 33 45 2.68265e-12 4.67372e-12 0.002836 1 0 AIF1L 83543 broad.mit.edu 37 9 133987029 133987029 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr9:133987029G>A ENST00000372309.3 + 4 371 c.217G>A c.(217-219)Gaa>Aaa p.E73K AIF1L_ENST00000472942.1_3'UTR|AIF1L_ENST00000372301.2_5'UTR|AIF1L_ENST00000247291.3_Missense_Mutation_p.E47K|AIF1L_ENST00000372300.1_Missense_Mutation_p.E47K|AIF1L_ENST00000372298.1_Missense_Mutation_p.E47K|AIF1L_ENST00000372302.1_Missense_Mutation_p.E47K|AIF1L_ENST00000372297.2_5'UTR|AIF1L_ENST00000372312.3_Missense_Mutation_p.E52K NM_001185095.1 NP_001172024.1 Q9BQI0 AIF1L_HUMAN allograft inflammatory factor 1-like 47 EF-hand 1. actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane actin filament binding|calcium ion binding p.E47K(1)|p.E73K(1) lung(2) 2 GAACCTTCCAGAAAAGCTCAC 0.557000 8 284 0 0 0.003080 0 0 MVP 9961 broad.mit.edu 37 16 29856130 29856130 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr16:29856130C>T ENST00000357402.5 + 11 2089 c.1951C>T c.(1951-1953)Cgg>Tgg p.R651W MVP_ENST00000395353.1_Missense_Mutation_p.R651W NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 651 R -> Q (in dbSNP:rs3764944). mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding p.R651W(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 TCAGAGGACCCGGGACGCCCT 0.662000 8 143 0 0 0.004482 0 0 SAGE1 55511 broad.mit.edu 37 X 134993792 134993792 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chrX:134993792C>T ENST00000535938.1 + 18 2368 c.2201C>T c.(2200-2202)cCt>cTt p.P734L SAGE1_ENST00000370709.3_Missense_Mutation_p.P734L|SAGE1_ENST00000324447.3_Missense_Mutation_p.P734L|SAGE1_ENST00000537770.1_Missense_Mutation_p.P358L NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 734 p.P734L(1) breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) GATCAAACCCCTCCTGATGGC 0.418000 65 214 0 0 0.003610 0 0 GABRA2 2555 broad.mit.edu 37 4 46252531 46252531 + Missense_Mutation SNP G G T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr4:46252531G>T ENST00000510861.1 - 10 1323 c.1150C>A c.(1150-1152)Ctc>Atc p.L384I GABRA2_ENST00000507069.1_Missense_Mutation_p.L444I|GABRA2_ENST00000540012.1_Missense_Mutation_p.L389I|GABRA2_ENST00000381620.4_Missense_Mutation_p.L384I|GABRA2_ENST00000514090.1_Missense_Mutation_p.L384I|GABRA2_ENST00000356504.1_Missense_Mutation_p.L384I P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 384 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.L384I(2) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATGGTGGAGAGAACTGGATCT 0.418000 81 308 9.90312e-32 1.78486e-31 0.003610 1 0 FBXW9 84261 broad.mit.edu 37 19 12807331 12807331 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr19:12807331G>A ENST00000380339.3 - 1 101 c.65C>T c.(64-66)tCa>tTa p.S22L FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000587955.1_Missense_Mutation_p.S22L|FBXW9_ENST00000393261.3_Missense_Mutation_p.S22L Q5XUX1 FBXW9_HUMAN F-box and WD repeat domain containing 9 22 protein binding p.S22L(1) cervix(1)|lung(4)|ovary(1)|prostate(1) 7 GTCTGTCTCTGACTCTGGGTC 0.667000 19 48 0 0 0.008871 0 0 UGGT2 55757 broad.mit.edu 37 13 96579553 96579553 + Missense_Mutation SNP A A G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr13:96579553A>G ENST00000376747.3 - 18 2085 c.2015T>C c.(2014-2016)cTa>cCa p.L672P NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 672 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity p.L672P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 CCTATCCATTAGAAAATCAAT 0.294000 29 31 0 0 0.006320 0 0 MEGF9 1955 broad.mit.edu 37 9 123370269 123370269 + Silent SNP A A G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr9:123370269A>G ENST00000373930.3 - 5 1218 c.1107T>C c.(1105-1107)ccT>ccC p.P369P MEGF9_ENST00000426959.1_Silent_p.P406P NM_001080497.2 NP_001073966.2 Q9H1U4 MEGF9_HUMAN multiple EGF-like-domains 9 369 Laminin EGF-like 4. integral to membrane calcium ion binding p.P406P(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 16 GGTCACATTCAGGTTCCAATT 0.353000 3 124 0 0 0.000248 0 0 YTHDC1 91746 broad.mit.edu 37 4 69182124 69182124 + Missense_Mutation SNP A A T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr4:69182124A>T ENST00000344157.4 - 16 2202 c.1867T>A c.(1867-1869)Tat>Aat p.Y623N YTHDC1_ENST00000355665.3_Missense_Mutation_p.Y605N|YTHDC1_ENST00000579690.1_Missense_Mutation_p.Y631N NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 623 Pro-rich. p.Y623N(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 TGGTGCTGATAGTAAGGATGG 0.448000 54 191 0 0 0.003610 0 0 SPATA9 83890 broad.mit.edu 37 5 95011208 95011208 + Nonsense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr5:95011208G>A ENST00000274432.8 - 3 427 c.286C>T c.(286-288)Cag>Tag p.Q96* SPATA9_ENST00000477047.2_5'UTR|RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Nonsense_Mutation_p.Q96* NM_031952.3 NP_114158.2 Q9BWV2 SPAT9_HUMAN spermatogenesis associated 9 96 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.Q96*(1) large_intestine(3)|lung(4) 7 all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.91e-16) CATGCAAGCTGAGGATGCAGA 0.443000 8 97 0 0 0.003080 0 0 KRTAP3-2 83897 broad.mit.edu 37 17 39155965 39155965 + Silent SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr17:39155965G>A ENST00000391587.1 - 1 173 c.141C>T c.(139-141)tgC>tgT p.C47C NM_031959.2 NP_114165.1 Q9BYR7 KRA32_HUMAN keratin associated protein 3-2 47 3 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity p.C47C(1) endometrium(1)|large_intestine(1)|lung(1) 3 Breast(137;0.00043) AGTTGTCACAGCAGATGGGCT 0.632000 8 100 0 0 0.003080 0 0 TP53 7157 broad.mit.edu 37 17 7578427 7578427 + Missense_Mutation SNP T T A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr17:7578427T>A ENST00000420246.2 - 5 635 c.503A>T c.(502-504)cAc>cTc p.H168L TP53_ENST00000269305.4_Missense_Mutation_p.H168L|TP53_ENST00000413465.2_Missense_Mutation_p.H168L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H168L|TP53_ENST00000455263.2_Missense_Mutation_p.H168L|TP53_ENST00000445888.2_Missense_Mutation_p.H168L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 168 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> V (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|H -> Y (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; 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.H168R(12)|p.H168P(10)|p.0?(8)|p.H168L(8)|p.V157_C176del20(1)|p.H36L(1)|p.Q167_H168>YL(1)|p.H168fs*69(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.H168fs*2(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(1)|p.H168_M169>LI(1)|p.H168fs*13(1)|p.S149fs*72(1)|p.H75L(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) CTCCGTCATGTGCTGTGACTG 0.652000 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) 5 43 0 0 0.001168 0 0 VRK3 51231 broad.mit.edu 37 19 50491663 50491663 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr19:50491663G>A ENST00000599538.1 - 12 1847 c.1183C>T c.(1183-1185)Ccc>Tcc p.P395S VRK3_ENST00000601912.1_Missense_Mutation_p.P345S|VRK3_ENST00000601341.1_Missense_Mutation_p.P345S|VRK3_ENST00000594092.1_Missense_Mutation_p.P395S|VRK3_ENST00000316763.3_Missense_Mutation_p.P395S|VRK3_ENST00000443401.2_Missense_Mutation_p.P164S|VRK3_ENST00000593919.1_Missense_Mutation_p.P395S|VRK3_ENST00000594948.1_Missense_Mutation_p.P395S|VRK3_ENST00000377011.2_Missense_Mutation_p.P345S Q8IV63 VRK3_HUMAN vaccinia related kinase 3 395 Protein kinase. nucleus ATP binding|protein kinase activity p.P395S(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) TCAGTGTTGGGAAGGCAATTT 0.587000 4 129 0 0 0.000248 0 0 EXPH5 23086 broad.mit.edu 37 11 108380300 108380300 + Nonsense_Mutation SNP G G C TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr11:108380300G>C ENST00000265843.4 - 6 6044 c.5934C>G c.(5932-5934)taC>taG p.Y1978* EXPH5_ENST00000443411.1_Nonsense_Mutation_p.Y1790*|EXPH5_ENST00000428840.1_Nonsense_Mutation_p.Y1902*|EXPH5_ENST00000525344.1_Nonsense_Mutation_p.Y1971* NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1978 intracellular protein transport Rab GTPase binding p.Y1978*(1) breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CATCCAGGTAGTATTCATCAT 0.383000 6 254 0 0 0.001984 0 0 LY75 4065 broad.mit.edu 37 2 160734964 160734964 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr2:160734964C>T ENST00000263636.4 - 11 1672 c.1645G>A c.(1645-1647)Gat>Aat p.D549N LY75_ENST00000554112.1_Missense_Mutation_p.D549N|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D549N|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.D549N|LY75_ENST00000553424.1_Missense_Mutation_p.D549N NM_002349.3 NP_002340.2 lymphocyte antigen 75 p.D549N(1) NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) AGAGATTTATCATACTTTTTC 0.378000 5 89 0 0 0.001168 0 0 BHLHB9 80823 broad.mit.edu 37 X 102005352 102005352 + Missense_Mutation SNP G G T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chrX:102005352G>T ENST00000372735.1 + 4 2014 c.1429G>T c.(1429-1431)Gca>Tca p.A477S BHLHB9_ENST00000361229.4_Missense_Mutation_p.A477S|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A477S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A477S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A477S Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 477 cytoplasm|nucleus binding p.A477S(1) cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AAATCCAACTGCAGCCAGAGA 0.368000 21 268 4.35082e-09 7.43061e-09 0.001523 1 0 FDPS 2224 broad.mit.edu 37 1 155290372 155290372 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr1:155290372C>T ENST00000356657.6 + 11 1394 c.1232C>T c.(1231-1233)gCg>gTg p.A411V RUSC1-AS1_ENST00000543656.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.A345V|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.A411V NM_001135821.1 NP_001129293.1 P14324 FPPS_HUMAN farnesyl diphosphate synthase 411 cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process cytosol|nucleus dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding p.A411V(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399) CTGGGGCTTGCGCGCAAAATC 0.502000 15 48 0 0 0.004007 0 0 RBM15 64783 broad.mit.edu 37 1 110882747 110882747 + Silent SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr1:110882747C>T ENST00000369784.3 + 1 1620 c.720C>T c.(718-720)ctC>ctT p.L240L RBM15_ENST00000602849.1_Silent_p.L240L|RBM15_ENST00000487146.2_Silent_p.L240L NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 240 RRM 1. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding p.L240L(1) ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) GCCTGGTGCTCTATGACCGGC 0.622000 T MKL1 acute megakaryocytic leukemia OREG0013656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 78 0 0 0.004007 0 0 PSMD5 5711 broad.mit.edu 37 9 123593720 123593720 + Silent SNP T T C TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr9:123593720T>C ENST00000210313.3 - 4 524 c.450A>G c.(448-450)tcA>tcG p.S150S PSMD5-AS1_ENST00000589026.1_RNA|PSMD5_ENST00000373904.5_Intron NM_001270427.1|NM_005047.3 NP_001257356.1|NP_005038.1 Q16401 PSMD5_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 150 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding p.S150S(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1) 10 GTGATATTCTTGACAGGGATT 0.338000 4 116 0 0 0.000602 0 0 KRTAP10-7 386675 broad.mit.edu 37 21 46021597 46021597 + Missense_Mutation SNP G G T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr21:46021597G>T ENST00000380102.2 + 1 1101 c.1076G>T c.(1075-1077)tGc>tTc p.C359F TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 359 30 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 CGCCCCGCATGCTCCCGCCCA 0.662000 12 43 2.68362e-12 4.74314e-12 0.001368 1 0 TNC 3371 broad.mit.edu 37 9 117791710 117791710 + Missense_Mutation SNP C C A rs112853515 TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr9:117791710C>A ENST00000350763.4 - 25 6509 c.6098G>T c.(6097-6099)cGc>cTc p.R2033L TNC_ENST00000345230.3_Missense_Mutation_p.R1396L|TNC_ENST00000423613.2_Missense_Mutation_p.R1760L|TNC_ENST00000346706.3_Missense_Mutation_p.R1487L|TNC_ENST00000341037.4_Missense_Mutation_p.R1851L|TNC_ENST00000340094.3_Missense_Mutation_p.R1669L|TNC_ENST00000537320.1_Missense_Mutation_p.R1396L|TNC_ENST00000535648.1_Missense_Mutation_p.R1578L|TNC_ENST00000542877.1_Missense_Mutation_p.R1670L NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 2033 Fibrinogen C-terminal. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding p.R2033H(1)|p.R2033L(1) NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GAAGTTCTCGCGTCCGTTTTT 0.458000 26 116 4.22769e-11 7.30238e-11 0.006320 1 0 AUP1 550 broad.mit.edu 37 2 74755112 74755112 + Silent SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr2:74755112G>A ENST00000377526.3 - 7 1002 c.693C>T c.(691-693)cgC>cgT p.R231R NM_181575.3 NP_853553.1 Q9Y679 AUP1_HUMAN ancient ubiquitous protein 1 297 endoplasmic reticulum membrane|integral to membrane|nucleus protein binding p.R231R(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 11 CCCCTAGTTGGCGATGAACAG 0.567000 43 122 0 0 0.002852 0 0 KCNA4 3739 broad.mit.edu 37 11 30032876 30032876 + Silent SNP T T C TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr11:30032876T>C ENST00000328224.6 - 2 2583 c.1350A>G c.(1348-1350)cgA>cgG p.R450R NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 450 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity p.R450R(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 TCCGGAATACTCGGACCAGAC 0.582000 14 68 0 0 0.002450 0 0 GABRA4 2557 broad.mit.edu 37 4 46930366 46930366 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr4:46930366C>T ENST00000264318.3 - 9 2523 c.1541G>A c.(1540-1542)gGc>gAc p.G514D NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 514 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.G514D(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTTACTTGTGCCAGATCCAGA 0.433000 41 173 0 0 0.003610 0 0 TAF2 6873 broad.mit.edu 37 8 120816177 120816177 + Silent SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr8:120816177C>T ENST00000378164.2 - 5 799 c.501G>A c.(499-501)gaG>gaA p.E167E NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 167 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding p.E167E(2) NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CCATACTTCCCTCTACACTGG 0.343000 11 235 0 0 0.001368 0 0 PIK3R2 5296 broad.mit.edu 37 19 18266787 18266787 + Missense_Mutation SNP T T C TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr19:18266787T>C ENST00000593731.1 + 2 658 c.98T>C c.(97-99)gTg>gCg p.V33A PIK3R2_ENST00000222254.7_Missense_Mutation_p.V33A O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 (beta) 33 SH3. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding p.V33A(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1) 24 GTGCTGGTAGTGAGCCGGGCG 0.741000 3 2 0 0 0.000248 0 0 ALOXE3 59344 broad.mit.edu 37 17 8006764 8006764 + Missense_Mutation SNP C C A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr17:8006764C>A ENST00000380149.1 - 14 2331 c.2301G>T c.(2299-2301)caG>caT p.Q767H ALOXE3_ENST00000448843.2_Missense_Mutation_p.Q611H|ALOXE3_ENST00000318227.3_Missense_Mutation_p.Q743H Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 611 leukotriene biosynthetic process iron ion binding|lipoxygenase activity p.Q611H(1)|p.Q743H(1) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 GGGGTGGGGGCTGCCTCATGG 0.577000 5 58 0.000602214 0.000915366 0.000602 1 0 ARHGAP21 57584 broad.mit.edu 37 10 24889824 24889824 + Missense_Mutation SNP C C A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr10:24889824C>A ENST00000396432.2 - 14 3369 c.2883G>T c.(2881-2883)atG>atT p.M961I ARHGAP21_ENST00000320481.6_Missense_Mutation_p.M748I|ARHGAP21_ENST00000493154.1_Intron NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 960 Interaction with ARF1 and ARF6.|PH. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding p.M960I(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GGACAACATACATCTGTTTCC 0.428000 11 128 4.68919e-08 7.74736e-08 0.008291 1 0 VPS13A 23230 broad.mit.edu 37 9 79946930 79946930 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr9:79946930G>A ENST00000360280.3 + 46 6256 c.5996G>A c.(5995-5997)aGa>aAa p.R1999K VPS13A_ENST00000357409.5_Missense_Mutation_p.R1999K|VPS13A_ENST00000376634.4_Missense_Mutation_p.R1999K|VPS13A_ENST00000376636.3_Missense_Mutation_p.R1960K NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1999 Golgi to endosome transport|protein transport intracellular protein binding p.R1999K(3) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TCCCAGATAAGAAATCATTTT 0.323000 5 189 0 0 0.000602 0 0 PMS2P4 5382 broad.mit.edu 37 7 66764315 66764315 + RNA SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr7:66764315C>T ENST00000414507.1 - 0 140 CTACTAACTCCTTCACCGCAG 0.458000 57 614 0 0 0.003610 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33546240 33546240 + Nonsense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr5:33546240C>T ENST00000504830.1 - 22 4705 c.4370G>A c.(4369-4371)tGg>tAg p.W1457* ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.W1372* NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1457 TSP type-1 7. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.W1457*(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TCTTTTTGTCCAATCACAGAG 0.502000 HNSCC(64;0.19) 41 65 0 0 0.002222 0 0 NCF2 4688 broad.mit.edu 37 1 183525357 183525357 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr1:183525357C>T ENST00000413720.1 - 14 1616 c.1342G>A c.(1342-1344)Gaa>Aaa p.E448K NCF2_ENST00000367535.3_Missense_Mutation_p.E493K|NCF2_ENST00000418089.1_Missense_Mutation_p.E412K|NCF2_ENST00000367536.1_Missense_Mutation_p.E493K NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 493 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding p.E493K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 TCCAGCCATTCTTCATTCACT 0.428000 9 118 0 0 0.006214 0 0 NBPF10 100132406 broad.mit.edu 37 1 145368660 145368660 + Missense_Mutation SNP G G T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr1:145368660G>T ENST00000342960.5 + 84 10673 c.10638G>T c.(10636-10638)caG>caT p.Q3546H NBPF10_ENST00000369339.2_Missense_Mutation_p.Q664H|NBPF10_ENST00000369338.1_Missense_Mutation_p.Q662H NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3546 p.Q3546H(1)|p.Q662H(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TGGTGTTCCAGATGGGAGTCA 0.448000 127 557 2.34756e-62 4.29914e-62 0.003610 1 0 PCDHGA9 56107 broad.mit.edu 37 5 140782870 140782870 + Silent SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr5:140782870C>T ENST00000573521.1 + 1 351 c.351C>T c.(349-351)taC>taT p.Y117Y PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAAACTGTACGGAATAGAAA 0.498000 14 101 0 0 0.001855 0 0 DPP10 57628 broad.mit.edu 37 2 116534783 116534783 + Splice_Site SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr2:116534783G>A ENST00000410059.1 + 14 1701 c.e14-1 DPP10_ENST00000393147.2_Splice_Site|DPP10_ENST00000409163.1_Splice_Site|DPP10_ENST00000310323.8_Splice_Site NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) proteolysis integral to membrane|membrane fraction serine-type peptidase activity p.?(4) breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TTTCTTTGCAGAGTAAAAGTG 0.368000 3 40 0 0 0.004672 0 0 KAT2B 8850 broad.mit.edu 37 3 20082268 20082268 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr3:20082268G>A ENST00000263754.4 + 1 754 c.299G>A c.(298-300)tGc>tAc p.C100Y KAT2B_ENST00000426228.1_3'UTR NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 100 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding p.C100Y(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 TACTCCGCCTGCAAGGTACGC 0.711000 9 30 0 0 0.004482 0 0 XYLT1 64131 broad.mit.edu 37 16 17294482 17294482 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr16:17294482C>T ENST00000261381.6 - 4 1027 c.943G>A c.(943-945)Gag>Aag p.E315K NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 315 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity p.E315K(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ACGGAGTCCTCGTCCCACTGC 0.572000 7 222 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179596231 179596231 + Missense_Mutation SNP C C G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr2:179596231C>G ENST00000589042.1 - 59 17486 c.17262G>C c.(17260-17262)aaG>aaC p.K5754N TTN_ENST00000342992.6_Missense_Mutation_p.K4510N|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K5437N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5437 Ig-like 38. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.K4510N(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCAAGGAGCCCTTCAGAGTGG 0.473000 16 38 0 0 0.004007 0 0 CDH9 1007 broad.mit.edu 37 5 26903797 26903797 + Missense_Mutation SNP G G T rs143973229 TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr5:26903797G>T ENST00000231021.4 - 6 1120 c.948C>A c.(946-948)ttC>ttA p.F316L NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 316 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.F316L(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 TGATGACATCGAACATGTCTG 0.408000 18 326 8.00594e-06 1.26761e-05 0.007413 1 0 VBP1 7411 broad.mit.edu 37 X 154456755 154456755 + Silent SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chrX:154456755G>A ENST00000286428.5 + 4 492 c.375G>A c.(373-375)ctG>ctA p.L125L VBP1_ENST00000535916.1_Silent_p.L120L NM_003372.5 NP_003363.1 P61758 PFD3_HUMAN von Hippel-Lindau binding protein 1 125 'de novo' posttranslational protein folding nucleus|prefoldin complex unfolded protein binding p.L125L(1) NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 12 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) AAATGTGTCTGTGGTTGGGGG 0.403000 44 169 0 0 0.002222 0 0 ITGAV 3685 broad.mit.edu 37 2 187529903 187529903 + Missense_Mutation SNP G G T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr2:187529903G>T ENST00000261023.3 + 21 2398 c.2124G>T c.(2122-2124)caG>caT p.Q708H ITGAV_ENST00000433736.2_Missense_Mutation_p.Q662H|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.Q672H NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 708 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding p.Q708H(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) AAACTCGCCAGGTGGTATGTG 0.358000 5 51 3.59834e-05 5.63863e-05 0.001168 1 0 KLHL4 56062 broad.mit.edu 37 X 86890732 86890732 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chrX:86890732C>T ENST00000373119.4 + 9 2027 c.1882C>T c.(1882-1884)Cct>Tct p.P628S KLHL4_ENST00000373114.4_Missense_Mutation_p.P628S NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 628 cytoplasm|microtubule cytoskeleton|nucleolus actin binding p.P628S(2) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 GCATGATGCCCCTGCTTCCAA 0.408000 30 71 0 0 0.003271 0 0 PTPRN 5798 broad.mit.edu 37 2 220167372 220167372 + Missense_Mutation SNP G G T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr2:220167372G>T ENST00000295718.2 - 5 805 c.565C>A c.(565-567)Ctg>Atg p.L189M AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.L99M|PTPRN_ENST00000409251.3_Missense_Mutation_p.L189M NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 189 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity p.L189M(1) breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GGGGGCAGCAGCAGGTGCTCC 0.632000 9 53 1.08611e-07 1.77514e-07 0.000978 1 0 USH2A 7399 broad.mit.edu 37 1 216496918 216496918 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr1:216496918G>A ENST00000366943.2 - 8 1834 c.1448C>T c.(1447-1449)aCg>aTg p.T483M USH2A_ENST00000307340.3_Missense_Mutation_p.T483M|USH2A_ENST00000366942.3_Missense_Mutation_p.T483M O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 483 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.T483M(1) 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) CCTTATTTGCGTGGCTTTTAC 0.413000 HNSCC(13;0.011) 8 163 0 0 0.004482 0 0 IGSF9 57549 broad.mit.edu 37 1 159900488 159900488 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr1:159900488G>A ENST00000368094.1 - 14 2004 c.1807C>T c.(1807-1809)Ccg>Tcg p.P603S IGSF9_ENST00000361509.3_Missense_Mutation_p.P587S|IGSF9_ENST00000493195.1_5'UTR NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 603 Fibronectin type-III 1. cell junction|integral to membrane|synapse p.P587S(1) central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) TCACCTTCCGGAGCAGACAAG 0.607000 4 93 0 0 0.000248 0 0 MIB2 142678 broad.mit.edu 37 1 1559174 1559174 + Missense_Mutation SNP A A T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr1:1559174A>T ENST00000357210.4 + 4 658 c.442A>T c.(442-444)Atc>Ttc p.I148F MIB2_ENST00000520777.1_Missense_Mutation_p.I205F|MIB2_ENST00000512004.1_3'UTR|MIB2_ENST00000504599.1_Missense_Mutation_p.I104F|MIB2_ENST00000378708.1_Missense_Mutation_p.I90F|MIB2_ENST00000378710.3_Missense_Mutation_p.I148F|MIB2_ENST00000378712.1_Missense_Mutation_p.I90F|MIB2_ENST00000518681.1_Missense_Mutation_p.I205F|MIB2_ENST00000505820.2_Missense_Mutation_p.I205F|MIB2_ENST00000360522.4_Missense_Mutation_p.I148F|MIB2_ENST00000355826.5_Missense_Mutation_p.I191F NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 148 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.I148F(1) central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CCCCAACATCATCTGTGACTG 0.677000 3 13 0 0 0.004672 0 0 VWA3B 200403 broad.mit.edu 37 2 98916570 98916570 + Missense_Mutation SNP T T C TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr2:98916570T>C ENST00000477737.1 + 25 3515 c.3311T>C c.(3310-3312)gTg>gCg p.V1104A VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1104 p.V1104A(1) NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GCCAAAATTGTGATACCCAAA 0.373000 42 192 0 0 0.003214 0 0 ZMYM5 9205 broad.mit.edu 37 13 20411811 20411811 + Silent SNP A A G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr13:20411811A>G ENST00000337963.4 - 6 1287 c.1023T>C c.(1021-1023)tgT>tgC p.C341C ZMYM5_ENST00000382905.4_Silent_p.C341C|ZMYM5_ENST00000382907.4_3'UTR NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 341 nucleus zinc ion binding p.C341C(2) kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) CTAATTTACTACAAATTGTAC 0.299000 42 35 0 0 0.002522 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723154 58723154 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr11:58723154G>A ENST00000300079.5 + 7 706 c.656G>A c.(655-657)cGa>cAa p.R219Q GLYATL1_ENST00000317391.4_Missense_Mutation_p.R188Q|RP11-142C4.6_ENST00000533954.1_RNA NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 188 mitochondrion glycine N-acyltransferase activity p.R219Q(1)|p.R188Q(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) AACTGGAAGCGAGGGAAGAAT 0.498000 21 47 0 0 0.002299 0 0 UGGT1 56886 broad.mit.edu 37 2 128867293 128867293 + Missense_Mutation SNP A A G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr2:128867293A>G ENST00000375990.3 + 5 825 c.422A>G c.(421-423)gAg>gGg p.E141G UGGT1_ENST00000259253.6_Missense_Mutation_p.E165G Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 165 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding p.E165G(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 GATACCCTTGAGGCTCTTCTA 0.408000 3 98 0 0 0.000248 0 0 AEBP1 165 broad.mit.edu 37 7 44149709 44149709 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr7:44149709C>T ENST00000223357.3 + 10 1551 c.1246C>T c.(1246-1248)Cgg>Tgg p.R416W NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 416 F5/8 type C.|Required for DNA-binding and interaction with NFKBIA (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R416W(1) NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 ACAGCGCGGCCGGCTCAACAT 0.652000 10 53 0 0 0.008291 0 0 KLF17 128209 broad.mit.edu 37 1 44595592 44595592 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr1:44595592G>A ENST00000372299.3 + 2 707 c.649G>A c.(649-651)Gcc>Acc p.A217T KLF17_ENST00000476802.1_Intron NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 217 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.A217T(2) NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) CCCGCAAGATGCCCATGACCT 0.567000 35 64 0 0 0.003271 0 0 MRPS5 64969 broad.mit.edu 37 2 95774073 95774073 + Missense_Mutation SNP T T G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr2:95774073T>G ENST00000272418.2 - 5 692 c.484A>C c.(484-486)Aag>Cag p.K162Q NM_031902.3 NP_114108.1 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 162 translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome p.K162Q(1) central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 TGCTCTTCCTTGCTTCTTTGG 0.478000 43 150 0 0 0.003610 0 0 CWC27 10283 broad.mit.edu 37 5 64070566 64070566 + Missense_Mutation SNP A A G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr5:64070566A>G ENST00000508024.1 + 2 292 c.91A>G c.(91-93)Aaa>Gaa p.K31E CWC27_ENST00000381070.3_Missense_Mutation_p.K31E Q6UX04 CWC27_HUMAN CWC27 spliceosome-associated protein homolog (S. cerevisiae) 31 PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity p.K31E(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1) 21 GTTGTGGTCCAAAGAAGCTCC 0.279000 36 133 0 0 0.004878 0 0 MIS18BP1 55320 broad.mit.edu 37 14 45687540 45687540 + Silent SNP T T C TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr14:45687540T>C ENST00000310806.4 - 12 3245 c.2787A>G c.(2785-2787)aaA>aaG p.K929K NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 929 SANT. cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding p.K929K(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 TCTGGGATCCTTTTCCTCTGG 0.438000 3 157 0 0 0.000602 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154987882 154987882 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr1:154987882G>A ENST00000368426.3 + 3 883 c.746G>A c.(745-747)gGg>gAg p.G249E ZBTB7B_ENST00000292176.2_Missense_Mutation_p.G249E|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.G249E|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.G283E NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 249 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.G249E(1) endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGGGGCAGTGGGCCGGGGGAC 0.647000 8 18 0 0 0.004482 0 0 MYO9B 4650 broad.mit.edu 37 19 17213241 17213241 + Silent SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr19:17213241G>A ENST00000595618.1 + 2 866 c.714G>A c.(712-714)tcG>tcA p.S238S MYO9B_ENST00000593411.1_3'UTR|MYO9B_ENST00000397274.2_Silent_p.S238S|MYO9B_ENST00000594824.1_Silent_p.S238S NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 238 Myosin head-like. IS -> YP (in Ref. 1; AAC50402). actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity p.S238S(2) breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 TCGTGATCTCGGGTGAGAGCG 0.642000 7 69 0 0 0.001984 0 0 REG3A 5068 broad.mit.edu 37 2 79384709 79384709 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr2:79384709G>A ENST00000393878.1 - 4 703 c.449C>T c.(448-450)tCg>tTg p.S150L REG3A_ENST00000305165.2_Missense_Mutation_p.S150L|REG3A_ENST00000409839.3_Missense_Mutation_p.S150L NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 150 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding p.S150L(2)|p.S150W(1) breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 TGTGCTTCTCGACAGGCTCGC 0.527000 29 93 0 0 0.007291 0 0 BCRP7 100133163 broad.mit.edu 37 22 18845998 18845998 + RNA SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr22:18845998G>A ENST00000412938.1 + 0 3356 CCCGTCCTGCGCAGGCCGACA 0.607000 4 46 0 0 0.000602 0 0 MOCOS 55034 broad.mit.edu 37 18 33775220 33775220 + Splice_Site SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr18:33775220G>A ENST00000261326.5 + 2 164 c.142_splice c.e2-1 p.G48_splice NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 48 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding p.G48E(1) breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) TTTCTTTCAGGAACTGTCTAT 0.403000 9 114 0 0 0.004482 0 0 SLC22A6 9356 broad.mit.edu 37 11 62744846 62744846 + Nonsense_Mutation SNP C C A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr11:62744846C>A ENST00000377871.3 - 9 1641 c.1375G>T c.(1375-1377)Gga>Tga p.G459* SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000360421.4_Nonsense_Mutation_p.G459* NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 459 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding p.G459*(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CTGCCCATTCCCATGCCTGTC 0.612000 3 18 0.004672 0.0069622 0.004672 1 0 CDH18 1016 broad.mit.edu 37 5 19612631 19612631 + Missense_Mutation SNP C C A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr5:19612631C>A ENST00000507958.1 - 8 1713 c.723G>T c.(721-723)atG>atT p.M241I CDH18_ENST00000502796.1_Missense_Mutation_p.M241I|CDH18_ENST00000506372.1_Missense_Mutation_p.M241I|CDH18_ENST00000511273.1_Missense_Mutation_p.M241I|CDH18_ENST00000382275.1_Missense_Mutation_p.M241I|CDH18_ENST00000274170.4_Missense_Mutation_p.M241I Q13634 CAD18_HUMAN cadherin 18, type 2 241 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.M241I(2) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CTTGCCCAGCCATGTCTTTGG 0.418000 26 88 6.36457e-07 1.02917e-06 0.003954 1 0 ABCA4 24 broad.mit.edu 37 1 94543389 94543389 + Missense_Mutation SNP C C T rs1800548 byFrequency TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr1:94543389C>T ENST00000370225.3 - 11 1497 c.1411G>A c.(1411-1413)Gaa>Aaa p.E471K ABCA4_ENST00000535735.1_Missense_Mutation_p.E471K NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 471 E -> K (in ARMD2 and STGD1; ATP-binding capacity and retinal stimulation as in wild-type; dbSNP:rs1800548). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances p.E471*(1)|p.E471K(1) NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GTAATACCTTCTTCACCAAGC 0.463000 8 240 0 0 0.003080 0 0 FBXW9 84261 broad.mit.edu 37 19 12807331 12807331 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr19:12807331G>A ENST00000380339.3 - 1 101 c.65C>T c.(64-66)tCa>tTa p.S22L FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000587955.1_Missense_Mutation_p.S22L|FBXW9_ENST00000393261.3_Missense_Mutation_p.S22L Q5XUX1 FBXW9_HUMAN F-box and WD repeat domain containing 9 22 protein binding p.S22L(1) cervix(1)|lung(4)|ovary(1)|prostate(1) 7 GTCTGTCTCTGACTCTGGGTC 0.667000 19 48 0 0 0.008871 0 0 HRNR 388697 broad.mit.edu 37 1 152193005 152193005 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr1:152193005C>T ENST00000368801.2 - 3 1175 c.1100G>A c.(1099-1101)gGc>gAc p.G367D FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 367 keratinization calcium ion binding|protein binding p.G367D(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGACCTGAGCCAGAACCATG 0.552000 15 198 0 0 0.004990 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17966799 17966799 + Splice_Site SNP T T G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr1:17966799T>G ENST00000361221.3 + 21 2431 c.e21+2 ARHGEF10L_ENST00000434513.1_Splice_Site|ARHGEF10L_ENST00000375415.1_Splice_Site|ARHGEF10L_ENST00000452522.1_Splice_Site|ARHGEF10L_ENST00000375408.3_Splice_Site|ARHGEF10L_ENST00000469726.1_Splice_Site|ARHGEF10L_ENST00000167825.4_Splice_Site NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity p.?(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) TCGGACTCCGTGAGTATAGCC 0.602000 5 23 0 0 0.000602 0 0 OR4C6 219432 broad.mit.edu 37 11 55432857 55432857 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr11:55432857C>T ENST00000314259.3 + 1 244 c.215C>T c.(214-216)tCa>tTa p.S72L NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S72L(1) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 GTCATGTTCTCATCTGTCGTT 0.433000 6 173 0 0 0.001168 0 0 BLM 641 broad.mit.edu 37 15 91341436 91341436 + Missense_Mutation SNP A A G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr15:91341436A>G ENST00000355112.3 + 17 3345 c.3227A>G c.(3226-3228)gAt>gGt p.D1076G BLM_ENST00000560509.1_Missense_Mutation_p.D1076G|BLM_ENST00000560136.1_3'UTR NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 1076 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding p.D1076G(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) AAAACAAGAGATGTGACTGAC 0.294000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 7 57 0 0 0.001984 0 0 TBL2 26608 broad.mit.edu 37 7 72985560 72985560 + Silent SNP G G T rs150420769 TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr7:72985560G>T ENST00000305632.5 - 6 1078 c.837C>A c.(835-837)tcC>tcA p.S279S TBL2_ENST00000432538.1_Silent_p.S243S|TBL2_ENST00000459913.1_5'UTR NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 279 p.S279S(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) GCACAGCCGCGGAGTGGCCCT 0.572000 6 66 0.000157383 0.000244105 0.003080 1 0 ZFP91 80829 broad.mit.edu 37 11 58378451 58378451 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr11:58378451G>A ENST00000316059.6 + 5 817 c.646G>A c.(646-648)Gag>Aag p.E216K ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E216K NM_001197051.1|NM_053023.4 NP_001183980.1|NP_444251.1 Q96JP5 ZFP91_HUMAN ZFP91 zinc finger protein 216 Glu-rich. activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding p.E216K(2) cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) GGAGGAAGAAGAGATGTTAAT 0.383000 3 82 0 0 0.000248 0 0 BCRP7 100133163 broad.mit.edu 37 22 18845990 18845990 + RNA SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr22:18845990C>T ENST00000412938.1 + 0 3348 ACCTCCATCCCGTCCTGCGCA 0.582000 3 38 0 0 0.000602 0 0 VPS13C 54832 broad.mit.edu 37 15 62333557 62333557 + Missense_Mutation SNP C C G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr15:62333557C>G ENST00000261517.5 - 3 226 c.153G>C c.(151-153)ttG>ttC p.L51F VPS13C_ENST00000395898.3_Missense_Mutation_p.L51F|VPS13C_ENST00000249837.3_Missense_Mutation_p.L51F|VPS13C_ENST00000395896.4_Missense_Mutation_p.L51F NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 51 protein localization p.L51F(2) NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 AAGGAACATCCAATTCACTCT 0.318000 16 49 0 0 0.007413 0 0 PNMA3 29944 broad.mit.edu 37 X 152226180 152226180 + Silent SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chrX:152226180C>T ENST00000447306.1 + 2 1104 c.768C>T c.(766-768)gcC>gcT p.A256A PNMA3_ENST00000370265.4_Silent_p.A256A|PNMA3_ENST00000370264.4_Silent_p.A256A NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 256 apoptosis nucleolus nucleic acid binding|zinc ion binding p.A256A(2) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) tgtgtaaagcctatcaggagg 0.488000 8 231 0 0 0.003080 0 0 MPDZ 8777 broad.mit.edu 37 9 13162689 13162689 + Splice_Site SNP C C A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr9:13162689C>A ENST00000319217.7 - 23 3607 c.e23+1 MPDZ_ENST00000381022.2_Splice_Site|MPDZ_ENST00000381015.4_Splice_Site|MPDZ_ENST00000541718.1_Splice_Site|MPDZ_ENST00000538841.1_Splice_Site|MPDZ_ENST00000536827.1_Splice_Site|MPDZ_ENST00000447879.1_Splice_Site|MPDZ_ENST00000546205.1_Splice_Site NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding p.?(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) GTTTCACTTACCTGCCAGTGT 0.378000 15 53 4.14922e-12 7.24921e-12 0.004007 1 0 FBXO4 26272 broad.mit.edu 37 5 41934094 41934094 + Silent SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr5:41934094C>T ENST00000296812.2 + 4 749 c.693C>T c.(691-693)ttC>ttT p.F231F FBXO4_ENST00000281623.3_Silent_p.F231F|FBXO4_ENST00000509134.1_Silent_p.F231F NM_033484.2 NP_277019.1 Q9UKT5 FBX4_HUMAN F-box protein 4 231 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity p.F231F(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2) 27 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) AACATAAATTCAACATTCTAA 0.328000 33 72 0 0 0.004289 0 0 TTLL3 26140 broad.mit.edu 37 3 9867508 9867508 + Silent SNP C C A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr3:9867508C>A ENST00000383827.1 + 2 2395 c.114C>A c.(112-114)ctC>ctA p.L38L TTLL3_ENST00000427853.3_Silent_p.L38L|TTLL3_ENST00000397241.1_Silent_p.L38L|ARPC4-TTLL3_ENST00000397256.1_Silent_p.L311L|TTLL3_ENST00000430793.1_Silent_p.L38L|TTLL3_ENST00000547186.1_Silent_p.L250L|TTLL3_ENST00000455274.1_Silent_p.L38L|TTLL3_ENST00000426895.4_Silent_p.L393L Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 250 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity p.L250L(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) TCAGGCACCTCGACACTCAGG 0.587000 14 45 3.27435e-08 5.46925e-08 0.002450 1 0 SBF2 81846 broad.mit.edu 37 11 9834135 9834135 + Missense_Mutation SNP T T C TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr11:9834135T>C ENST00000256190.8 - 30 4236 c.4099A>G c.(4099-4101)Act>Gct p.T1367A NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 1367 Myotubularin phosphatase. myelination cytoplasm|membrane phosphatase activity|protein binding p.T1367A(1) breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TCTGAGTCAGTAGGGATGGTG 0.428000 38 151 0 0 0.003755 0 0 PEG3 5178 broad.mit.edu 37 19 57325604 57325604 + Silent SNP G G A rs141987198 byFrequency TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr19:57325604G>A ENST00000326441.9 - 10 4569 c.4206C>T c.(4204-4206)gcC>gcT p.A1402A ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.A1276A|PEG3_ENST00000598410.1_Silent_p.A1278A|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.A1402A|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1402 3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A1402A(2) 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) CTTCTGGCTCGGCAGCCTCCA 0.577000 15 102 0 0 0.007413 0 0 PSEN1 5663 broad.mit.edu 37 14 73659504 73659504 + Missense_Mutation SNP C C A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr14:73659504C>A ENST00000324501.5 + 7 973 c.701C>A c.(700-702)gCc>gAc p.A234D PSEN1_ENST00000557511.1_Missense_Mutation_p.A234D|PSEN1_ENST00000344094.3_Missense_Mutation_p.A234D|PSEN1_ENST00000406768.1_Missense_Mutation_p.A142D|PSEN1_ENST00000261970.3_Missense_Mutation_p.A234D|PSEN1_ENST00000394164.1_Missense_Mutation_p.A230D|PSEN1_ENST00000357710.4_Missense_Mutation_p.A230D NM_000021.3|NM_007318.2 NP_000012.1|NP_015557.2 P49768 PSN1_HUMAN presenilin 1 234 amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding p.A234D(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) GCCCTCATGGCCCTGGTGTTT 0.448000 9 172 1.76689e-08 2.98409e-08 0.006214 1 0 CXCR2 3579 broad.mit.edu 37 2 218999975 218999975 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr2:218999975G>A ENST00000318507.2 + 3 878 c.451G>A c.(451-453)Gcc>Acc p.A151T NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 151 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity p.A151T(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 CATTGTCCATGCCACACGCAC 0.537000 8 71 0 0 0.006214 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 2 6 0 0 0.004672 0 0 IBSP 3381 broad.mit.edu 37 4 88732809 88732809 + Missense_Mutation SNP G G T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr4:88732809G>T ENST00000226284.5 + 7 768 c.701G>T c.(700-702)gGg>gTg p.G234V NM_004967.3 NP_004958.2 P21815 SIAL_HUMAN integrin-binding sialoprotein 234 biomineral tissue development|cell adhesion|ossification p.G234V(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) CCAAATGGTGGGTTTGAACCT 0.532000 9 39 7.48243e-07 1.19719e-06 0.006214 1 0 MUC16 94025 broad.mit.edu 37 19 9089879 9089879 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr19:9089879C>T ENST00000397910.4 - 1 2139 c.1936G>A c.(1936-1938)Ggt>Agt p.G646S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 646 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.G646S(2) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTGGGACACCGTTCGTGGCC 0.562000 10 149 0 0 0.000978 0 0 KRT16P2 400578 broad.mit.edu 37 17 16734855 16734855 + RNA SNP C C T rs688852 by1000genomes TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr17:16734855C>T ENST00000579062.1 - 0 460 p.R183Q(1) CACAGTCTGCCGCAGGGCCAG 0.632000 4 29 0 0 0.001168 0 0 CTC1 80169 broad.mit.edu 37 17 8138437 8138437 + Missense_Mutation SNP C C A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr17:8138437C>A ENST00000315684.8 - 8 1380 c.1373G>T c.(1372-1374)tGg>tTg p.W458L NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 458 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding p.W458L(1) NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 CTGACGTTCCCACACCAGCTG 0.642000 13 52 0.000219431 0.000336905 0.002450 1 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 5 63 0 0 0.001168 0 0 BCORL1 63035 broad.mit.edu 37 X 129171500 129171500 + Silent SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chrX:129171500C>T ENST00000540052.1 + 8 4508 c.4464C>T c.(4462-4464)gaC>gaT p.D1488D BCORL1_ENST00000359304.2_Silent_p.D1358D|BCORL1_ENST00000218147.7_Silent_p.D1488D|BCORL1_ENST00000303743.5_Silent_p.D1562D NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1488 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.D1488D(1) breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 GTGCGCAGGACGGCACGAGGC 0.647000 6 94 0 0 0.001168 0 0 NF1 4763 broad.mit.edu 37 17 29490291 29490291 + Nonsense_Mutation SNP G G T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr17:29490291G>T ENST00000358273.4 + 4 759 c.376G>T c.(376-378)Gaa>Taa p.E126* NF1_ENST00000431387.4_Nonsense_Mutation_p.E126*|NF1_ENST00000356175.3_Nonsense_Mutation_p.E126* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 126 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4)|p.E126*(2) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CACCTGTCGTGAAGGAAACCA 0.423000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 33 45 2.68265e-12 4.74314e-12 0.002836 1 0 AIF1L 83543 broad.mit.edu 37 9 133987029 133987029 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr9:133987029G>A ENST00000372309.3 + 4 371 c.217G>A c.(217-219)Gaa>Aaa p.E73K AIF1L_ENST00000372302.1_Missense_Mutation_p.E47K|AIF1L_ENST00000372301.2_5'UTR|AIF1L_ENST00000372298.1_Missense_Mutation_p.E47K|AIF1L_ENST00000472942.1_3'UTR|AIF1L_ENST00000372297.2_5'UTR|AIF1L_ENST00000372312.3_Missense_Mutation_p.E52K|AIF1L_ENST00000247291.3_Missense_Mutation_p.E47K|AIF1L_ENST00000372300.1_Missense_Mutation_p.E47K NM_001185095.1 NP_001172024.1 Q9BQI0 AIF1L_HUMAN allograft inflammatory factor 1-like 47 EF-hand 1. actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane actin filament binding|calcium ion binding p.E47K(1)|p.E73K(1) lung(2) 2 GAACCTTCCAGAAAAGCTCAC 0.557000 8 284 0 0 0.003080 0 0 MVP 9961 broad.mit.edu 37 16 29856130 29856130 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr16:29856130C>T ENST00000357402.5 + 11 2089 c.1951C>T c.(1951-1953)Cgg>Tgg p.R651W MVP_ENST00000395353.1_Missense_Mutation_p.R651W NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 651 R -> Q (in dbSNP:rs3764944). mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding p.R651W(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 TCAGAGGACCCGGGACGCCCT 0.662000 8 143 0 0 0.004482 0 0 SAGE1 55511 broad.mit.edu 37 X 134993792 134993792 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chrX:134993792C>T ENST00000535938.1 + 18 2368 c.2201C>T c.(2200-2202)cCt>cTt p.P734L SAGE1_ENST00000324447.3_Missense_Mutation_p.P734L|SAGE1_ENST00000537770.1_Missense_Mutation_p.P358L|SAGE1_ENST00000370709.3_Missense_Mutation_p.P734L NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 734 p.P734L(1) breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) GATCAAACCCCTCCTGATGGC 0.418000 65 214 0 0 0.003610 0 0 GABRA2 2555 broad.mit.edu 37 4 46252531 46252531 + Missense_Mutation SNP G G T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr4:46252531G>T ENST00000510861.1 - 10 1323 c.1150C>A c.(1150-1152)Ctc>Atc p.L384I GABRA2_ENST00000356504.1_Missense_Mutation_p.L384I|GABRA2_ENST00000381620.4_Missense_Mutation_p.L384I|GABRA2_ENST00000507069.1_Missense_Mutation_p.L444I|GABRA2_ENST00000540012.1_Missense_Mutation_p.L389I|GABRA2_ENST00000514090.1_Missense_Mutation_p.L384I P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 384 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.L384I(2) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATGGTGGAGAGAACTGGATCT 0.418000 81 308 9.90312e-32 1.79199e-31 0.003610 1 0 UGGT2 55757 broad.mit.edu 37 13 96579553 96579553 + Missense_Mutation SNP A A G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr13:96579553A>G ENST00000376747.3 - 18 2085 c.2015T>C c.(2014-2016)cTa>cCa p.L672P NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 672 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity p.L672P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 CCTATCCATTAGAAAATCAAT 0.294000 29 31 0 0 0.006320 0 0 MEGF9 1955 broad.mit.edu 37 9 123370269 123370269 + Silent SNP A A G TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr9:123370269A>G ENST00000373930.3 - 5 1218 c.1107T>C c.(1105-1107)ccT>ccC p.P369P MEGF9_ENST00000426959.1_Silent_p.P406P NM_001080497.2 NP_001073966.2 Q9H1U4 MEGF9_HUMAN multiple EGF-like-domains 9 369 Laminin EGF-like 4. integral to membrane calcium ion binding p.P406P(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 16 GGTCACATTCAGGTTCCAATT 0.353000 3 124 0 0 0.000248 0 0 YTHDC1 91746 broad.mit.edu 37 4 69182124 69182124 + Missense_Mutation SNP A A T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr4:69182124A>T ENST00000344157.4 - 16 2202 c.1867T>A c.(1867-1869)Tat>Aat p.Y623N YTHDC1_ENST00000355665.3_Missense_Mutation_p.Y605N|YTHDC1_ENST00000579690.1_Missense_Mutation_p.Y631N NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 623 Pro-rich. p.Y623N(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 TGGTGCTGATAGTAAGGATGG 0.448000 54 191 0 0 0.003610 0 0 SPATA9 83890 broad.mit.edu 37 5 95011208 95011208 + Nonsense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr5:95011208G>A ENST00000274432.8 - 3 427 c.286C>T c.(286-288)Cag>Tag p.Q96* RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Nonsense_Mutation_p.Q96* NM_031952.3 NP_114158.2 Q9BWV2 SPAT9_HUMAN spermatogenesis associated 9 96 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.Q96*(1) large_intestine(3)|lung(4) 7 all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.91e-16) CATGCAAGCTGAGGATGCAGA 0.443000 8 97 0 0 0.003080 0 0 KRTAP3-2 83897 broad.mit.edu 37 17 39155965 39155965 + Silent SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr17:39155965G>A ENST00000391587.1 - 1 173 c.141C>T c.(139-141)tgC>tgT p.C47C NM_031959.2 NP_114165.1 Q9BYR7 KRA32_HUMAN keratin associated protein 3-2 47 3 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity p.C47C(1) endometrium(1)|large_intestine(1)|lung(1) 3 Breast(137;0.00043) AGTTGTCACAGCAGATGGGCT 0.632000 8 100 0 0 0.003080 0 0 TP53 7157 broad.mit.edu 37 17 7578427 7578427 + Missense_Mutation SNP T T A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr17:7578427T>A ENST00000420246.2 - 5 635 c.503A>T c.(502-504)cAc>cTc p.H168L TP53_ENST00000455263.2_Missense_Mutation_p.H168L|TP53_ENST00000445888.2_Missense_Mutation_p.H168L|TP53_ENST00000269305.4_Missense_Mutation_p.H168L|TP53_ENST00000413465.2_Missense_Mutation_p.H168L|TP53_ENST00000359597.4_Missense_Mutation_p.H168L|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 168 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> V (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|H -> Y (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; 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.H168R(12)|p.H168P(10)|p.0?(8)|p.H168L(8)|p.V157_C176del20(1)|p.H36L(1)|p.Q167_H168>YL(1)|p.H168fs*69(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.H168fs*2(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(1)|p.H168_M169>LI(1)|p.H168fs*13(1)|p.S149fs*72(1)|p.H75L(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) CTCCGTCATGTGCTGTGACTG 0.652000 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) 5 43 0 0 0.001168 0 0 VRK3 51231 broad.mit.edu 37 19 50491663 50491663 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr19:50491663G>A ENST00000599538.1 - 12 1847 c.1183C>T c.(1183-1185)Ccc>Tcc p.P395S VRK3_ENST00000594092.1_Missense_Mutation_p.P395S|VRK3_ENST00000601341.1_Missense_Mutation_p.P345S|VRK3_ENST00000601912.1_Missense_Mutation_p.P345S|VRK3_ENST00000594948.1_Missense_Mutation_p.P395S|VRK3_ENST00000377011.2_Missense_Mutation_p.P345S|VRK3_ENST00000316763.3_Missense_Mutation_p.P395S|VRK3_ENST00000443401.2_Missense_Mutation_p.P164S|VRK3_ENST00000593919.1_Missense_Mutation_p.P395S Q8IV63 VRK3_HUMAN vaccinia related kinase 3 395 Protein kinase. nucleus ATP binding|protein kinase activity p.P395S(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) TCAGTGTTGGGAAGGCAATTT 0.587000 4 129 0 0 0.000248 0 0 EXPH5 23086 broad.mit.edu 37 11 108380300 108380300 + Nonsense_Mutation SNP G G C TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr11:108380300G>C ENST00000265843.4 - 6 6044 c.5934C>G c.(5932-5934)taC>taG p.Y1978* EXPH5_ENST00000428840.1_Nonsense_Mutation_p.Y1902*|EXPH5_ENST00000443411.1_Nonsense_Mutation_p.Y1790*|EXPH5_ENST00000525344.1_Nonsense_Mutation_p.Y1971* NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1978 intracellular protein transport Rab GTPase binding p.Y1978*(1) breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CATCCAGGTAGTATTCATCAT 0.383000 6 254 0 0 0.001984 0 0 HOXC5 3222 broad.mit.edu 37 12 54427115 54427115 + Missense_Mutation SNP A A C TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr12:54427115A>C ENST00000312492.2 + 1 479 c.209A>C c.(208-210)cAc>cCc p.H70P HOXC4_ENST00000303406.4_Intron|HOXC5_ENST00000512206.1_Intron NM_018953.2 NP_061826.1 Q00444 HXC5_HUMAN homeobox C5 70 regulation of transcription from RNA polymerase II promoter cell junction|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H70P(1) cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1) 12 CCCCGGGCTCACCCCGACCGC 0.672000 6 33 0 0 0.008291 0 0 LY75 4065 broad.mit.edu 37 2 160734964 160734964 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr2:160734964C>T ENST00000263636.4 - 11 1672 c.1645G>A c.(1645-1647)Gat>Aat p.D549N LY75-CD302_ENST00000504764.1_Missense_Mutation_p.D549N|LY75_ENST00000553424.1_Missense_Mutation_p.D549N|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D549N|LY75_ENST00000554112.1_Missense_Mutation_p.D549N NM_002349.3 NP_002340.2 lymphocyte antigen 75 p.D549N(1) NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) AGAGATTTATCATACTTTTTC 0.378000 5 89 0 0 0.001168 0 0 LOC101928979 101928979 broad.mit.edu 37 1 145382043 145382048 + RNA DEL ATAGTA ATAGTA - TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr1:145382043_145382048delATAGTA ENST00000419817.1 - 0 307 TACTCAAATTATAGTACACTTACCTG 0.413 2 4 --- --- --- --- HAUS3 79441 broad.mit.edu 37 4 2242244 2242246 + In_Frame_Del DEL CTT CTT - rs143139222 TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr4:2242244_2242246delCTT ENST00000243706.4 - 2 657_659 c.428_430delAAG c.(427-432)gcc>g p.EA143del HAUS3_ENST00000506763.1_In_Frame_Del_p.EA143del|POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_In_Frame_Del_p.EA143del NM_024511.5 NP_078787.2 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 143 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 TTTTTAGTGGCTTCTTCTTCTTT 0.350 11 175 --- --- --- --- MLLT3 4300 broad.mit.edu 37 9 20414277 20414278 + In_Frame_Ins INS - - CTG TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr9:20414277_20414278insCTG ENST00000380338.4 - 5 852_853 c.566_567insCAG c.(565-567)aag>aCAGag p.189_189K>TE MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_In_Frame_Ins_p.186_186K>TE|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 189 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) AACTGGTActactgctgctgct 0.500 T MLL ALL 20 192 --- --- --- --- TNC 3371 broad.mit.edu 37 9 117797539 117797539 + Frame_Shift_Del DEL G G - rs148674204 byFrequency TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr9:117797539delG ENST00000350763.4 - 22 6142 c.5731delC c.(5731-5733)ggfs p.R1911fs TNC_ENST00000346706.3_Frame_Shift_Del_p.R1365fs|TNC_ENST00000341037.4_Frame_Shift_Del_p.R1729fs|TNC_ENST00000542877.1_Frame_Shift_Del_p.R1548fs|TNC_ENST00000345230.3_Frame_Shift_Del_p.R1274fs|TNC_ENST00000340094.3_Frame_Shift_Del_p.R1547fs|TNC_ENST00000537320.1_Frame_Shift_Del_p.R1274fs|TNC_ENST00000535648.1_Frame_Shift_Del_p.R1456fs|TNC_ENST00000423613.2_Frame_Shift_Del_p.R1638fs NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1911 Fibronectin type-III 15. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 ACTGATGCCCGGGGGGGTCGC 0.478 7 164 --- --- --- --- MALAT1 378938 broad.mit.edu 37 11 65268722 65268723 + RNA DEL AT AT - TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr11:65268722_65268723delAT ENST00000534336.1 + 0 3490_3491 NR_002819.2 TGGGGGCAAAATATGTTTTCAG 0.396 15 68 --- --- --- --- BCL9L 283149 broad.mit.edu 37 11 118770846 118770847 + Frame_Shift_Ins INS - - C rs139315833 byFrequency TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr11:118770846_118770847insC ENST00000334801.3 - 7 4149_4150 c.3185_3186insG c.(3184-3186)aggfs p.R1062fs BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1062 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) TCATGAGGCCGCTGGGAGGGTT 0.629 24 92 --- --- --- --- RB1 5925 broad.mit.edu 37 13 49030371 49030372 + Frame_Shift_Ins INS - - T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr13:49030371_49030372insT ENST00000267163.4 + 19 1984_1985 c.1846_1847insT c.(1846-1848)aggfs p.R616fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 616 Pocket; binds T and E1A.|Spacer. K -> E (in RB). androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(10) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCCAAAGAAAAAAGGTTCAACT 0.381 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 22 44 --- --- --- --- TBC1D3P5 440419 broad.mit.edu 37 17 25754046 25754046 + RNA DEL C C - TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e a614b2ce-3d15-4aa0-8403-1427e7ccf847 g.chr17:25754046delC ENST00000586223.1 + 0 1595 NR_033892.1 TGACGCTGTTCTTtttttttt 0.453 2 4 --- --- --- --- LOC100131564 100131564 broad.mit.edu 37 1 93744310 93744310 + RNA DEL T T - TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr1:93744310delT ENST00000451302.2 - 0 1008 RP4-717I23.3_ENST00000446528.2_RNA|RP4-717I23.3_ENST00000415150.1_RNA|RP4-717I23.3_ENST00000429859.1_RNA|RP4-717I23.3_ENST00000447577.1_RNA|RP4-717I23.3_ENST00000424517.3_RNA|RP4-717I23.3_ENST00000413606.1_RNA|RP4-717I23.3_ENST00000442860.1_RNA|RP4-717I23.3_ENST00000455474.1_RNA|RP4-717I23.3_ENST00000457025.1_RNA|RP4-717I23.3_ENST00000427669.1_RNA|RP4-717I23.3_ENST00000414430.1_RNA GGAATGCaaattttttttttt 0.279 3 3 --- --- --- --- LOC101928979 101928979 broad.mit.edu 37 1 145382043 145382048 + RNA DEL ATAGTA ATAGTA - TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr1:145382043_145382048delATAGTA ENST00000419817.1 - 0 307 TACTCAAATTATAGTACACTTACCTG 0.413 2 4 --- --- --- --- TNC 3371 broad.mit.edu 37 9 117797539 117797539 + Frame_Shift_Del DEL G G - rs148674204 byFrequency TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr9:117797539delG ENST00000350763.4 - 22 6142 c.5731delC c.(5731-5733)ggfs p.R1911fs TNC_ENST00000346706.3_Frame_Shift_Del_p.R1365fs|TNC_ENST00000340094.3_Frame_Shift_Del_p.R1547fs|TNC_ENST00000345230.3_Frame_Shift_Del_p.R1274fs|TNC_ENST00000341037.4_Frame_Shift_Del_p.R1729fs|TNC_ENST00000537320.1_Frame_Shift_Del_p.R1274fs|TNC_ENST00000542877.1_Frame_Shift_Del_p.R1548fs|TNC_ENST00000535648.1_Frame_Shift_Del_p.R1456fs|TNC_ENST00000423613.2_Frame_Shift_Del_p.R1638fs NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1911 Fibronectin type-III 15. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 ACTGATGCCCGGGGGGGTCGC 0.478 7 164 --- --- --- --- MALAT1 378938 broad.mit.edu 37 11 65268722 65268723 + RNA DEL AT AT - TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr11:65268722_65268723delAT ENST00000534336.1 + 0 3490_3491 NR_002819.2 TGGGGGCAAAATATGTTTTCAG 0.396 15 68 --- --- --- --- BCL9L 283149 broad.mit.edu 37 11 118770846 118770847 + Frame_Shift_Ins INS - - C rs139315833 byFrequency TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr11:118770846_118770847insC ENST00000334801.3 - 7 4149_4150 c.3185_3186insG c.(3184-3186)aggfs p.R1062fs BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1062 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) TCATGAGGCCGCTGGGAGGGTT 0.629 24 92 --- --- --- --- DGCR5 26220 broad.mit.edu 37 22 18976301 18976324 + RNA DEL TATTTATTTATTTATTTATTTATT TATTTATTTATTTATTTATTTATT - rs139950802 TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a70a44f-84f3-440a-b898-dc3a0eff748e 4375f267-e1e2-4dfb-98c4-020e8f90de05 g.chr22:18976301_18976324delTATTTATTTATTTATTTATTTATT ENST00000438934.1 + 0 394 DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000421572.1_RNA TGGCTGGACAtatttatttatttatttatttatttatttattta 0.411 4 6 --- --- --- ---