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 ZNF569 148266 broad.mit.edu 37 19 37904008 37904008 + Nonsense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:37904008C>A ENST00000316950.6 - 6 2109 c.1552G>T c.(1552-1554)Gga>Tga p.G518* ZNF569_ENST00000392149.2_Nonsense_Mutation_p.G518*|ZNF569_ENST00000392150.2_Nonsense_Mutation_p.G359* NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 518 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGTTTCTCTCCAGTATGAACT 0.368000 41 71 1.30998e-17 1.96335e-17 1 1 0 ZNF638 27332 broad.mit.edu 37 2 71633387 71633387 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:71633387A>T ENST00000409544.1 + 19 3760 c.3130A>T c.(3130-3132)Aac>Tac p.N1044Y ZNF638_ENST00000355812.3_Missense_Mutation_p.N1044Y|ZNF638_ENST00000264447.4_Missense_Mutation_p.N1044Y NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1044 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 AAGTAATAGAAACAAGGTAAC 0.353000 8 52 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21894003 21894003 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:21894003G>C ENST00000328843.6 + 69 11184 c.11153G>C c.(11152-11154)aGa>aCa p.R3718T DNAH11_ENST00000409508.3_Missense_Mutation_p.R3711T Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3718 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GTGGCAGCAAGAGCATCTCTT 0.378000 Kartagener syndrome 14 23 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64167308 64167308 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:64167308T>C ENST00000395391.1 + 4 2001 c.626T>C c.(625-627)aTt>aCt p.I209T ZNF107_ENST00000344930.3_Missense_Mutation_p.I209T|ZNF107_ENST00000423627.1_Missense_Mutation_p.I209T Q9UII5 ZN107_HUMAN zinc finger protein 107 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) CATAAAATAATTCATACTGGA 0.373000 4 64 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142569468 142569468 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:142569468G>C ENST00000359396.3 - 15 2415 c.2170C>G c.(2170-2172)Cag>Gag p.Q724E NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 724 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) AGTCAGATCTGATATTCCCAG 0.522000 15 53 0 0 1 0 0 ASB5 140458 broad.mit.edu 37 4 177143572 177143572 + Splice_Site SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:177143572C>A ENST00000296525.3 - 3 390 c.e3-1 ASB5_ENST00000512254.1_Splice_Site|ASB5_ENST00000511879.1_Splice_Site NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) CATTATAACCCTAAATGTGGC 0.393000 4 45 0.014758 0.0150571 1 1 0 PCDHB11 56125 broad.mit.edu 37 5 140579376 140579376 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:140579376A>G ENST00000354757.3 + 1 29 c.29A>G c.(28-30)cAg>cGg p.Q10R PCDHB11_ENST00000536699.1_5'UTR NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 10 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.Q10L(1) NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCACTCAGCAGATAAGGCAA 0.507000 18 39 0 0 1 0 0 LONP2 83752 broad.mit.edu 37 16 48292536 48292536 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr16:48292536A>G ENST00000285737.4 + 4 701 c.608A>G c.(607-609)gAt>gGt p.D203G LONP2_ENST00000535754.1_Missense_Mutation_p.D159G NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 203 Lon. misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TAGATTTTAGATGCTGTGAGC 0.398000 15 29 0 0 1 0 0 PDE8B 8622 broad.mit.edu 37 5 76621413 76621413 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:76621413G>T ENST00000264917.5 + 3 494 c.449G>T c.(448-450)tGg>tTg p.W150L PDE8B_ENST00000346042.3_Missense_Mutation_p.W150L|PDE8B_ENST00000340978.3_Missense_Mutation_p.W150L|PDE8B_ENST00000342343.4_Missense_Mutation_p.W130L|PDE8B_ENST00000333194.4_Missense_Mutation_p.W150L NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 150 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) GGCTTCTGGTGGGCCTGCGAC 0.413000 19 101 1.33834e-09 1.68407e-09 1 1 0 C9orf3 84909 broad.mit.edu 37 9 97717496 97717496 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr9:97717496G>T ENST00000375315.2 + 7 1699 c.1699G>T c.(1699-1701)Gga>Tga p.G567* C9orf3_ENST00000297979.5_Nonsense_Mutation_p.G468* NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 567 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) AAGTGACTCGGGAGCATCTGT 0.373000 17 25 1.67942e-08 2.06172e-08 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113249468 113249468 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:113249468C>A ENST00000297405.5 - 67 10822 c.10578G>T c.(10576-10578)ggG>ggT p.G3526G CSMD3_ENST00000455883.2_Silent_p.G3357G|CSMD3_ENST00000352409.3_Silent_p.G3456G|CSMD3_ENST00000343508.3_Silent_p.G3486G NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3526 integral to membrane|plasma membrane 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 CGTTAACTCTCCCAGTGGAAG 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 35 99 8.73648e-17 1.2839e-16 1 1 0 DMBX1 127343 broad.mit.edu 37 1 46977961 46977961 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:46977961T>A ENST00000371956.4 + 4 959 c.944T>A c.(943-945)cTg>cAg p.L315Q DMBX1_ENST00000360032.3_Missense_Mutation_p.L310Q NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 315 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) CTGGGCTCACTGCACTGCCAG 0.682000 22 39 0 0 1 0 0 CAPS2 84698 broad.mit.edu 37 12 75706659 75706659 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:75706659C>G ENST00000409445.3 - 8 881 c.685G>C c.(685-687)Gca>Cca p.A229P CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000393284.3_5'UTR|CAPS2_ENST00000442339.2_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.A179P NM_032606.3 NP_115995.2 Q9BXY5 CAYP2_HUMAN calcyphosine 2 229 calcium ion binding endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 ACTTGCTCTGCAACAATCTGT 0.343000 18 33 0 0 1 0 0 MATN2 4147 broad.mit.edu 37 8 98943569 98943569 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:98943569G>T ENST00000254898.5 + 3 762 c.531G>T c.(529-531)gtG>gtT p.V177V MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Silent_p.V177V|MATN2_ENST00000520016.1_Silent_p.V177V|MATN2_ENST00000524308.1_Silent_p.V177V NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 177 VWFA 1. proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) AGGACTCCGTGGCCGAGGTGG 0.577000 11 37 4.68919e-08 5.61958e-08 1 1 0 SLC2A3 6515 broad.mit.edu 37 12 8074210 8074210 + Nonsense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:8074210G>C ENST00000075120.7 - 10 1530 c.1290C>G c.(1288-1290)taC>taG p.Y430* NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 430 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) TAATAAAAACGTAGGCTCCTA 0.403000 24 66 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30706075 30706075 + Silent SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:30706075A>G ENST00000256246.2 - 1 533 c.459T>C c.(457-459)ggT>ggC p.G153G NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 153 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AGGAAAAATTACCTTGGTCCT 0.453000 39 92 0 0 1 0 0 ZNF345 25850 broad.mit.edu 37 19 37367788 37367788 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:37367788A>T ENST00000529555.1 + 2 844 c.56A>T c.(55-57)gAa>gTa p.E19V ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.E19V|ZNF345_ENST00000420450.1_Missense_Mutation_p.E19V Q14585 ZN345_HUMAN zinc finger protein 345 19 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding p.E19G(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGTGATTGGGAATGTAAAAAC 0.368000 42 81 0 0 1 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819926 50819926 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:50819926C>T ENST00000374115.3 + 1 1580 c.1140C>T c.(1138-1140)ttC>ttT p.F380F CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 380 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity p.F380F(1) endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 GCCGCTCCTTCGCGCCGCTAG 0.677000 7 25 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63726726 63726726 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:63726726C>A ENST00000421025.1 + 5 984 c.715C>A c.(715-717)Ccc>Acc p.P239T ZNF679_ENST00000255746.4_Missense_Mutation_p.P239T NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 TGGAGAGAAACCCTACAGATG 0.408000 8 31 5.18039e-06 5.8815e-06 1 1 0 CLEC6A 93978 broad.mit.edu 37 12 8628779 8628779 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:8628779C>A ENST00000382073.3 + 5 614 c.428C>A c.(427-429)cCa>cAa p.P143Q NM_001007033.1 NP_001007034.1 Q6EIG7 CLC6A_HUMAN C-type lectin domain family 6, member A 143 C-type lectin. defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1)|large_intestine(2)|lung(7) 10 Lung SC(5;0.184) ctttcagacccacaaggtaat 0.383000 16 86 1.99824e-07 2.32999e-07 1 1 0 NCDN 23154 broad.mit.edu 37 1 36026118 36026118 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:36026118C>A ENST00000373243.2 + 3 749 c.366C>A c.(364-366)gcC>gcA p.A122A NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000373253.3_Silent_p.A105A|NCDN_ENST00000356090.4_Silent_p.A122A NM_014284.2 NP_055099.1 Q9UBB6 NCDN_HUMAN neurochondrin 122 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AACTGGCCGCCCATCCCCAAG 0.627000 33 165 8.4185e-14 1.18251e-13 1 1 0 ACSM2B 348158 broad.mit.edu 37 16 20554325 20554325 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr16:20554325C>T ENST00000329697.6 - 12 1588 c.1420G>A c.(1420-1422)Gga>Aga p.G474R ACSM2B_ENST00000565322.1_Missense_Mutation_p.G395R|ACSM2B_ENST00000567001.1_Missense_Mutation_p.G474R|ACSM2B_ENST00000565232.1_Missense_Mutation_p.G474R NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 474 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TCCGAGGGTCCAATCCGGTAC 0.567000 9 105 0 0 1 0 0 STX11 8676 broad.mit.edu 37 6 144508475 144508475 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:144508475G>A ENST00000367568.4 + 2 894 c.711G>A c.(709-711)aaG>aaA p.K237K NM_003764.3 NP_003755.2 O75558 STX11_HUMAN syntaxin 11 237 t-SNARE coiled-coil homology. cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) TGGTGGAGAAGCAGGCCGACA 0.632000 Familial Hemophagocytic Lymphohistiocytosis 24 10 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94046494 94046494 + Splice_Site SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr14:94046494G>A ENST00000553484.1 + 19 2587 c.e19-1 UNC79_ENST00000393151.2_Splice_Site|UNC79_ENST00000256339.4_Splice_Site|UNC79_ENST00000555664.1_Splice_Site Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ATGTCTTTCAGATGGAGTTAC 0.398000 25 31 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33559860 33559860 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:33559860A>T ENST00000228567.3 - 3 1237 c.941T>A c.(940-942)cTa>cAa p.L314Q SYT10_ENST00000535526.1_Missense_Mutation_p.L133Q NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 314 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) ACTGAAATGTAGTTTTCGGTT 0.358000 31 51 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102376422 102376422 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:102376422C>A ENST00000369138.1 + 13 2490 c.2000C>A c.(1999-2001)cCt>cAt p.P667H GRIK2_ENST00000421544.1_Missense_Mutation_p.P667H|GRIK2_ENST00000318991.6_Missense_Mutation_p.P667H|GRIK2_ENST00000369137.3_Missense_Mutation_p.P591H|GRIK2_ENST00000413795.1_Missense_Mutation_p.P667H|GRIK2_ENST00000369134.4_Missense_Mutation_p.P618H NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 667 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) atggaatcccctattgactct 0.423000 37 28 4.65686e-17 6.91092e-17 1 1 0 AFP 174 broad.mit.edu 37 4 74308073 74308073 + Nonsense_Mutation SNP G G A rs121912685 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:74308073G>A ENST00000395792.2 + 5 643 c.543G>A c.(541-543)tgG>tgA p.W181* AFP_ENST00000226359.2_Nonsense_Mutation_p.W181* NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 181 Albumin 1. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTCTTCTTTGGGCTGCTCGCT 0.373000 Alpha-Fetoprotein, Hereditary Persistence of 15 51 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56483287 56483287 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:56483287T>C ENST00000370765.6 - 23 5652 c.5545A>G c.(5545-5547)Atg>Gtg p.M1849V DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1264 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGTTGGTCCATTTTTTGCTTC 0.408000 23 103 0 0 1 0 0 GMCL1 64395 broad.mit.edu 37 2 70092042 70092042 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:70092042A>G ENST00000282570.3 + 11 1404 c.1153A>G c.(1153-1155)Atc>Gtc p.I385V NM_178439.3 NP_848526.1 Q96IK5 GMCL1_HUMAN germ cell-less, spermatogenesis associated 1 385 cell differentiation|multicellular organismal development|spermatogenesis nuclear matrix endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 15 GCCTCAAGAAATCAATAAAGA 0.313000 12 49 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1099771 1099771 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:1099771G>T ENST00000441003.2 + 40 7395 c.7368G>T c.(7366-7368)gtG>gtT p.V2456V NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4818 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TAGGCTGTGTGGGACCTGACA 0.572000 26 40 2.44723e-14 3.47795e-14 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113276039 113276039 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:113276039C>A ENST00000297405.5 - 61 9935 c.9691G>T c.(9691-9693)Gtt>Ttt p.V3231F CSMD3_ENST00000455883.2_Missense_Mutation_p.V3062F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V3161F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3191F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3231 Sushi 25. integral to membrane|plasma membrane 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 GGGCAGGTAACAGCTGCAATT 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 18 44 1.67942e-08 2.06172e-08 1 1 0 KDM6A 7403 broad.mit.edu 37 X 44929567 44929567 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chrX:44929567A>G ENST00000377967.4 + 17 2708 c.2667A>G c.(2665-2667)atA>atG p.I889M KDM6A_ENST00000536777.1_Missense_Mutation_p.I844M|KDM6A_ENST00000382899.4_Missense_Mutation_p.I896M|KDM6A_ENST00000543216.1_Missense_Mutation_p.I810M NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 889 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 CTGTGTCCATATACCCCAGCT 0.438000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 14 6 0 0 1 0 0 SERPINE1 5054 broad.mit.edu 37 7 100779054 100779054 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:100779054G>T ENST00000223095.4 + 7 1216 c.1059G>T c.(1057-1059)gaG>gaT p.E353D SERPINE1_ENST00000445463.2_Missense_Mutation_p.E338D NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 353 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) AGGTGAACGAGAGTGGCACGG 0.592000 9 38 1.12685e-05 1.26744e-05 1 1 0 KDM2A 22992 broad.mit.edu 37 11 67020928 67020928 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:67020928G>A ENST00000529006.2 + 19 3383 c.2937G>A c.(2935-2937)ctG>ctA p.L979L KDM2A_ENST00000530342.1_Silent_p.L540L|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Silent_p.L437L|KDM2A_ENST00000398645.2_3'UTR NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 979 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 TTGCAGGACTGAAAGACCTCC 0.517000 63 126 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134073595 134073595 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:134073595G>T ENST00000264360.4 + 1 3126 c.2300G>T c.(2299-2301)gGt>gTt p.G767V NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 767 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GGTGGCGGAGGTTCGACCTGC 0.587000 7 30 1.06961e-07 1.26676e-07 1 1 0 TNPO2 30000 broad.mit.edu 37 19 12813732 12813732 + Splice_Site SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:12813732C>A ENST00000425528.1 - 21 2567 c.2209_splice c.e21-1 p.G737_splice TNPO2_ENST00000592287.1_Splice_Site_p.G737_splice|TNPO2_ENST00000441499.1_Splice_Site_p.G737_splice|TNPO2_ENST00000450764.2_Splice_Site_p.G737_splice|TNPO2_ENST00000588216.1_Splice_Site_p.G737_splice|TNPO2_ENST00000356861.5_Splice_Site_p.G737_splice O14787 TNPO2_HUMAN transportin 2 737 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CATCTCTGCCCCTGGGGGAGC 0.612000 46 45 5.2432e-18 7.87785e-18 1 1 0 PCDHB8 56128 broad.mit.edu 37 5 140558992 140558992 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:140558992G>T ENST00000239444.2 + 1 1622 c.1377G>T c.(1375-1377)ctG>ctT p.L459L NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 459 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTACACCCTGTTCGTCCGCG 0.612000 26 125 2.08457e-15 2.99781e-15 1 1 0 ANKRD32 84250 broad.mit.edu 37 5 94030836 94030836 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:94030836C>A ENST00000265140.5 + 21 3415 c.2996C>A c.(2995-2997)aCc>aAc p.T999N ANKRD32_ENST00000493934.1_Intron NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 999 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) CATAAAGAAACCACCAGTGTT 0.348000 9 73 1.3612e-06 1.56902e-06 1 1 0 ZNF264 9422 broad.mit.edu 37 19 57723702 57723702 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:57723702T>A ENST00000263095.6 + 4 1651 c.1237T>A c.(1237-1239)Tac>Aac p.Y413N ZNF264_ENST00000536056.1_Missense_Mutation_p.Y413N NM_003417.4 NP_003408.1 O43296 ZN264_HUMAN zinc finger protein 264 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 27 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) CCACCGATCCTACCTCAAGAG 0.522000 17 69 0 0 1 0 0 TRIM3 10612 broad.mit.edu 37 11 6477605 6477605 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:6477605G>T ENST00000525074.1 - 6 1745 c.1351C>A c.(1351-1353)Cgt>Agt p.R451S TRIM3_ENST00000345851.3_Missense_Mutation_p.R451S|TRIM3_ENST00000537602.1_Missense_Mutation_p.R373S|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000536344.1_Missense_Mutation_p.R332S|TRIM3_ENST00000359518.3_Missense_Mutation_p.R451S NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 451 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGCCTACGCACTGCCTTC 0.642000 19 46 1.56452e-12 2.12832e-12 1 1 0 PRB1 5542 broad.mit.edu 37 12 11506889 11506889 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:11506889G>T ENST00000500254.2 - 3 185 c.148C>A c.(148-150)Ccc>Acc p.P50T PRB1_ENST00000545626.1_Missense_Mutation_p.P50T|PRB1_ENST00000546254.1_Missense_Mutation_p.P50T NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 233 extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) GGAGGTGGGGGGCCCTGGGGC 0.567000 103 60 1.26289e-39 2.10134e-39 1 1 0 IP6K3 117283 broad.mit.edu 37 6 33703157 33703157 + Nonsense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:33703157T>A ENST00000451316.1 - 3 632 c.97A>T c.(97-99)Aag>Tag p.K33* IP6K3_ENST00000293756.4_Nonsense_Mutation_p.K33* NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 33 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 TCGTCATACTTCATCACGCTC 0.617000 5 37 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5530472 5530472 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:5530472G>C ENST00000311659.4 - 2 464 c.317C>G c.(316-318)tCt>tGt p.S106C HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 106 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTAGGGACAGAGGCAGCTGG 0.607000 18 44 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70461988 70461988 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:70461988G>A ENST00000503640.1 - 3 1031 c.976C>T c.(976-978)Ctt>Ttt p.L326F UGT2A2_ENST00000457664.2_Missense_Mutation_p.L335F|UGT2A1_ENST00000514019.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000502343.1_Intron NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 326 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 ATCTGGGCAAGGGCTGAGGCA 0.428000 14 43 0 0 1 0 0 ZNF773 374928 broad.mit.edu 37 19 58018104 58018104 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:58018104C>T ENST00000282292.4 + 4 781 c.641C>T c.(640-642)aCt>aTt p.T214I ZNF773_ENST00000598770.1_Missense_Mutation_p.T213I|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron NM_198542.1 NP_940944.1 Q6PK81 ZN773_HUMAN zinc finger protein 773 214 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) AGACTGCACACTGGGGAAAAG 0.418000 45 58 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90857638 90857638 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:90857638C>A ENST00000394980.1 + 7 3126 c.2807C>A c.(2806-2808)aCa>aAa p.T936K MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.T678K|MMRN1_ENST00000264790.2_Missense_Mutation_p.T936K Q13201 MMRN1_HUMAN multimerin 1 936 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) AATGCTTCTACAAGTGTGTCA 0.373000 27 60 2.79863e-10 3.62741e-10 1 1 0 BMP6 654 broad.mit.edu 37 6 7845549 7845549 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:7845549C>A ENST00000283147.6 + 2 1000 c.841C>A c.(841-843)Cag>Aag p.Q281K NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 281 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) TCAAGTCTTACAGGAGCATCA 0.483000 12 56 0.000978159 0.00103651 1 1 0 TFAP2D 83741 broad.mit.edu 37 6 50683039 50683039 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:50683039G>A ENST00000008391.3 + 2 478 c.250G>A c.(250-252)Gcc>Acc p.A84T NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 84 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) CAGCCACCCGGCCGTCACCCC 0.592000 46 31 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56972069 56972069 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:56972069A>G ENST00000591790.1 - 3 1577 c.149T>C c.(148-150)cTg>cCg p.L50P ZNF667_ENST00000292069.6_Missense_Mutation_p.L50P|ZNF667_ENST00000504904.3_Missense_Mutation_p.L50P|ZNF667_ENST00000342634.3_Missense_Mutation_p.L143P Q5HYK9 ZN667_HUMAN zinc finger protein 667 50 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) AAGCGAGACCAGGTTCCGGTA 0.517000 20 50 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108371675 108371675 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:108371675C>T ENST00000263054.6 - 22 3034 c.3027G>A c.(3025-3027)ctG>ctA p.L1009L SORCS1_ENST00000344440.6_Silent_p.L1009L|SORCS1_ENST00000369698.1_Silent_p.L544L|SORCS1_ENST00000478809.2_5'UTR NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 1009 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TCACTTCCACCAGGGATTTTT 0.483000 7 29 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185798420 185798420 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:185798420C>A ENST00000302277.6 + 3 940 c.346C>A c.(346-348)Cgc>Agc p.R116S NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 116 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GGCACTCCAACGCCTGCACAA 0.398000 15 36 6.31663e-08 7.51032e-08 1 1 0 COL21A1 81578 broad.mit.edu 37 6 56035587 56035587 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:56035587C>A ENST00000244728.5 - 5 1283 c.886G>T c.(886-888)Gat>Tat p.D296Y COL21A1_ENST00000370819.1_Missense_Mutation_p.D296Y|COL21A1_ENST00000535941.1_Missense_Mutation_p.D296Y NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 296 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CTCCATAAATCCCAAATTTTC 0.328000 11 3 3.86212e-05 4.28022e-05 1 1 0 PDE6B 5158 broad.mit.edu 37 4 647649 647649 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:647649G>A ENST00000255622.6 + 4 763 c.720G>A c.(718-720)ctG>ctA p.L240L RP11-1191J2.2_ENST00000468356.1_RNA|RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000496514.1_Silent_p.L240L|PDE6B_ENST00000429163.2_5'UTR NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 240 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 AGGTGCTGCTGTGGTCGGCCA 0.622000 3 45 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106976822 106976822 + Silent SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:106976822A>T ENST00000369701.3 + 19 2903 c.2676A>T c.(2674-2676)acA>acT p.T892T SORCS3_ENST00000369699.4_Silent_p.T178T NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 892 PKD. integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TCCAGGTGACAGCCTATGCAG 0.527000 13 34 0 0 1 0 0 TYR 7299 broad.mit.edu 37 11 89028371 89028371 + Nonsense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:89028371C>G ENST00000263321.5 + 5 1929 c.1427C>G c.(1426-1428)tCa>tGa p.S476* NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 476 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) CGGATCTGGTCATGGCTCCTT 0.498000 23 46 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573455 140573455 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:140573455G>T ENST00000239446.4 + 1 1514 c.1330G>T c.(1330-1332)Gtc>Ttc p.V444F NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 444 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCTCCGACGTCAATGACAA 0.587000 23 70 1.03484e-13 1.45021e-13 1 1 0 MIR154 406946 broad.mit.edu 37 14 101526156 101526156 + RNA SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr14:101526156G>T ENST00000385243.1 + 0 65 NR_029704.1 ATACACGGTTGACCTATTTTT 0.507000 38 39 2.05212e-20 3.16194e-20 1 1 0 MUC16 94025 broad.mit.edu 37 19 9047471 9047471 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:9047471G>T ENST00000397910.4 - 5 34363 c.34160C>A c.(34159-34161)gCc>gAc p.A11387D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11389 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATCTGAAGTGGCTTCTGCCCC 0.473000 33 53 1.08312e-15 1.56135e-15 1 1 0 ABCA6 23460 broad.mit.edu 37 17 67133539 67133539 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr17:67133539C>T ENST00000284425.2 - 3 373 c.199G>A c.(199-201)Gta>Ata p.V67I ABCA6_ENST00000590645.1_Missense_Mutation_p.V67I NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 67 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) AATTTATCTACCCTTCCCAGA 0.388000 49 30 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57181664 57181664 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:57181664G>T ENST00000504228.1 + 6 2101 c.1996G>T c.(1996-1998)Gca>Tca p.A666S KIAA1211_ENST00000541073.1_Missense_Mutation_p.A659S|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A666S Q6ZU35 K1211_HUMAN KIAA1211 666 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) GTCCGCACTCGCAGAATGGGC 0.682000 14 27 7.93312e-07 9.17932e-07 1 1 0 KIAA1211 57482 broad.mit.edu 37 4 57164480 57164480 + Nonsense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:57164480C>T ENST00000504228.1 + 2 190 c.85C>T c.(85-87)Cag>Tag p.Q29* KIAA1211_ENST00000541073.1_Silent_p.H14H|KIAA1211_ENST00000264229.6_Nonsense_Mutation_p.Q29* Q6ZU35 K1211_HUMAN KIAA1211 29 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) AGCAATGTCACAGGACAACAT 0.478000 27 22 0 0 1 0 0 FIBCD1 84929 broad.mit.edu 37 9 133799182 133799182 + Silent SNP C C A rs114210057 byFrequency TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr9:133799182C>A ENST00000372338.4 - 4 1040 c.798G>T c.(796-798)ccG>ccT p.P266P FIBCD1_ENST00000448616.1_Silent_p.P266P|FIBCD1_ENST00000253018.4_Silent_p.P108P|FIBCD1_ENST00000372337.2_Silent_p.P108P NM_032843.4 NP_116232.3 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 266 Fibrinogen C-terminal. signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) GGAAGCCGGCCGGGTAGTGGG 0.692000 14 24 4.93089e-13 6.86235e-13 1 1 0 TMEM57 55219 broad.mit.edu 37 1 25785233 25785233 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:25785233G>A ENST00000374343.4 + 6 1183 c.1004G>A c.(1003-1005)aGt>aAt p.S335N TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000470035.1_3'UTR NM_018202.4 NP_060672.2 Q8N5G2 MACOI_HUMAN transmembrane protein 57 335 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) TCACCTCGAAGTCATAGCGCC 0.423000 26 180 0 0 1 0 0 LOC643733 643733 broad.mit.edu 37 11 104774251 104774251 + RNA SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:104774251C>A ENST00000532510.1 - 0 3285 TGGACTGTTGCCTCCGGACTT 0.423000 3 22 0.004672 0.00487373 1 1 0 EHMT1 79813 broad.mit.edu 37 9 140711949 140711949 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr9:140711949G>T ENST00000460843.1 + 24 3460 c.3433G>T c.(3433-3435)Gac>Tac p.D1145Y NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1145 SET. DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GTCCCTGCAGGACATCCCACC 0.607000 31 34 8.16721e-17 1.20611e-16 1 1 0 CYP3A4 1576 broad.mit.edu 37 7 99377624 99377624 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:99377624G>A ENST00000336411.2 - 2 339 c.156C>T c.(154-156)tcC>tcT p.S52S CYP3A4_ENST00000354593.2_Intron NM_001202855.2|NM_017460.5 NP_001189784.1|NP_059488.2 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 52 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) CCTTATGGTAGGACAAAATAT 0.423000 7 37 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238283226 238283226 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:238283226C>A ENST00000295550.4 - 8 3960 c.3508G>T c.(3508-3510)Gct>Tct p.A1170S COL6A3_ENST00000346358.4_Missense_Mutation_p.A970S|COL6A3_ENST00000353578.4_Missense_Mutation_p.A964S|COL6A3_ENST00000409809.1_Missense_Mutation_p.A964S|COL6A3_ENST00000347401.3_Missense_Mutation_p.A969S|COL6A3_ENST00000392004.3_Missense_Mutation_p.A964S|COL6A3_ENST00000472056.1_Missense_Mutation_p.A563S|COL6A3_ENST00000392003.2_Missense_Mutation_p.A763S NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1170 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GTGATGTCAGCGTTCCCGATG 0.607000 22 42 6.44725e-10 8.23285e-10 1 1 0 ALS2CL 259173 broad.mit.edu 37 3 46730923 46730923 + Missense_Mutation SNP T T G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:46730923T>G ENST00000318962.4 - 2 91 c.8A>C c.(7-9)aAc>aCc p.N3T ALS2CL_ENST00000415953.1_Missense_Mutation_p.N3T NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 3 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) CTCCTCAGGGTTGCACATGGC 0.637000 7 8 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247013698 247013698 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:247013698C>T ENST00000366508.1 - 33 5851 c.5715G>A c.(5713-5715)agG>agA p.R1905R AHCTF1_ENST00000326225.3_Silent_p.R1879R|AHCTF1_ENST00000391829.2_Silent_p.R1870R|AHCTF1_ENST00000470300.1_5'UTR Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1870 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TTCTAGGAGTCCTTTTTGTAA 0.328000 38 40 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 472913 472913 + Silent SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr20:472913T>C ENST00000217244.3 - 9 981 c.606A>G c.(604-606)ctA>ctG p.L202L CSNK2A1_ENST00000349736.5_Silent_p.L202L|CSNK2A1_ENST00000400227.3_Silent_p.L202L|CSNK2A1_ENST00000400217.1_Silent_p.L66L|CSNK2A1_ENST00000460062.1_5'UTR NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 202 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) AGTCTACAAGTAGCTCAGGAC 0.398000 19 34 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73544146 73544146 + Missense_Mutation SNP G G A rs111033491 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:73544146G>A ENST00000224721.6 + 41 5491 c.5486G>A c.(5485-5487)cGt>cAt p.R1829H NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1824 Cadherin 17. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 ATCTGTGCCCGTGACCGGGGG 0.617000 8 33 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7618902 7618902 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:7618902C>A ENST00000256861.6 - 10 1570 c.1492G>T c.(1492-1494)Gcc>Tcc p.A498S ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.A498S|ITIH5_ENST00000446830.2_Missense_Mutation_p.A280S|ITIH5_ENST00000298441.6_Missense_Mutation_p.A284S|ITIH5_ENST00000397145.2_Missense_Mutation_p.A498S NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 498 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 GTCTTGGTGGCCTGCACCACT 0.587000 17 34 3.52763e-06 4.02017e-06 1 1 0 USH2A 7399 broad.mit.edu 37 1 216498862 216498862 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:216498862G>A ENST00000366943.2 - 6 1314 c.928C>T c.(928-930)Cgg>Tgg p.R310W USH2A_ENST00000307340.3_Missense_Mutation_p.R310W|USH2A_ENST00000366942.3_Missense_Mutation_p.R310W O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 310 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 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) GGGTGGACCCGCGGGTGGCTG 0.532000 HNSCC(13;0.011) 14 62 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32339229 32339229 + Silent SNP A A C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr13:32339229A>C ENST00000298386.2 + 4 446 c.375A>C c.(373-375)gtA>gtC p.V125V RXFP2_ENST00000380314.1_Silent_p.V125V NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 125 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TGGAATGTGTAAATGGTGACT 0.333000 14 49 0 0 1 0 0 CD200R1 131450 broad.mit.edu 37 3 112648250 112648250 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:112648250C>A ENST00000471858.1 - 3 470 c.238G>T c.(238-240)Ggc>Tgc p.G80C CD200R1_ENST00000308611.3_Missense_Mutation_p.G103C|CD200R1_ENST00000440122.2_Missense_Mutation_p.G103C|CD200R1_ENST00000295863.4_Missense_Mutation_p.G58C|CD200R1_ENST00000490004.1_Missense_Mutation_p.G80C NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 80 Ig-like V-type. interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 GAAGGCTGGCCTCTCAGGATT 0.428000 22 84 7.41877e-09 9.18225e-09 1 1 0 NPAT 4863 broad.mit.edu 37 11 108043050 108043050 + Silent SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:108043050T>A ENST00000278612.8 - 13 2766 c.2661A>T c.(2659-2661)gtA>gtT p.V887V NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 887 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) GCAACACCACTACATTAGACT 0.448000 53 135 0 0 1 0 0 LGR4 55366 broad.mit.edu 37 11 27390103 27390103 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:27390103C>A ENST00000379214.4 - 18 2610 c.2167G>T c.(2167-2169)Gtt>Ttt p.V723F LGR4_ENST00000389858.4_Missense_Mutation_p.V699F NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 723 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 GTGTAGATAACGGCCATTAAT 0.388000 47 60 1.8453e-21 2.86519e-21 1 1 0 KCNV1 27012 broad.mit.edu 37 8 110980758 110980758 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:110980758G>T ENST00000524391.1 - 4 2094 c.1062C>A c.(1060-1062)tcC>tcA p.S354S KCNV1_ENST00000297404.1_Silent_p.S354S Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 354 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) AGATTCCCACGGATAGAAATA 0.468000 26 47 1.64293e-13 2.29176e-13 1 1 0 MAP4 4134 broad.mit.edu 37 3 47960230 47960230 + Nonsense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:47960230C>A ENST00000426837.2 - 7 769 c.682G>T c.(682-684)Gaa>Taa p.E228* MAP4_ENST00000395734.3_Nonsense_Mutation_p.E211*|MAP4_ENST00000383737.4_Nonsense_Mutation_p.E211*|MAP4_ENST00000360240.6_Nonsense_Mutation_p.E211* P27816 MAP4_HUMAN microtubule-associated protein 4 211 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGAGGAGGTTCTGCAACAGCC 0.443000 22 44 5.26018e-13 7.28704e-13 1 1 0 PTPRD 5789 broad.mit.edu 37 9 8376715 8376715 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr9:8376715G>T ENST00000381196.4 - 35 4941 c.4398C>A c.(4396-4398)gaC>gaA p.D1466E PTPRD_ENST00000397617.3_Missense_Mutation_p.D1059E|PTPRD_ENST00000355233.5_Missense_Mutation_p.D1060E|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1466E|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1453E|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1444E|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1466E|PTPRD_ENST00000537002.1_Missense_Mutation_p.D1056E|PTPRD_ENST00000486161.1_Missense_Mutation_p.D1059E|PTPRD_ENST00000397611.3_Missense_Mutation_p.D1056E|PTPRD_ENST00000397606.3_Missense_Mutation_p.D1059E NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1466 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCCAATACTGGTCACACTTCA 0.443000 TSP Lung(15;0.13) 18 23 6.49762e-13 8.93978e-13 1 1 0 KALRN 8997 broad.mit.edu 37 3 124437978 124437978 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:124437978G>T ENST00000360013.3 + 60 8749 c.8622G>T c.(8620-8622)ctG>ctT p.L2874L KALRN_ENST00000428018.2_Silent_p.L1145L|KALRN_ENST00000291478.4_Silent_p.L1177L NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2873 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 ATGTCATGCTGAGTGGGGTCT 0.532000 17 46 3.52763e-06 4.02017e-06 1 1 0 PGAM4 441531 broad.mit.edu 37 X 77224974 77224974 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chrX:77224974G>C ENST00000458128.1 - 1 161 c.162C>G c.(160-162)atC>atG p.I54M ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 54 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 AGGTGAGGCAGATGTCAAACT 0.617000 69 24 0 0 1 0 0 TMEM192 201931 broad.mit.edu 37 4 166033914 166033914 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:166033914C>A ENST00000306480.5 - 1 157 c.12G>T c.(10-12)ggG>ggT p.G4G TMEM192_ENST00000506087.1_Intron NM_001100389.1 NP_001093859.1 Q8IY95 TM192_HUMAN transmembrane protein 192 4 Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0926) CCATCCTGCCCCCCGCCGCCA 0.706000 10 11 0.000442599 0.00047315 1 1 0 FCRL3 115352 broad.mit.edu 37 1 157660142 157660142 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:157660142G>T ENST00000368184.3 - 9 1884 c.1593C>A c.(1591-1593)aaC>aaA p.N531K FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.N531K NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 531 Ig-like C2-type 6. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) TCAGAGAGAGGTTGAAGGATG 0.532000 21 80 4.96729e-08 5.91764e-08 1 1 0 DDX1 1653 broad.mit.edu 37 2 15747309 15747309 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:15747309G>C ENST00000381341.2 + 14 1217 c.828G>C c.(826-828)caG>caC p.Q276H DDX1_ENST00000233084.3_Missense_Mutation_p.Q276H Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 276 Helicase ATP-binding.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) GTAATGCACAGGTGACACAAA 0.353000 32 62 0 0 1 0 0 OR5K3 403277 broad.mit.edu 37 3 98110083 98110083 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:98110083C>A ENST00000383695.1 + 1 574 c.574C>A c.(574-576)Cct>Act p.P192T RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005516.1 NP_001005516.1 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, member 3 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 TTGTATTAACCCTTATATCAA 0.299000 18 66 5.01169e-05 5.52384e-05 1 1 0 CDH18 1016 broad.mit.edu 37 5 19544072 19544072 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:19544072G>T ENST00000507958.1 - 11 2286 c.1296C>A c.(1294-1296)aaC>aaA p.N432K CDH18_ENST00000511273.1_Missense_Mutation_p.N432K|CDH18_ENST00000502796.1_Missense_Mutation_p.N432K|CDH18_ENST00000506372.1_Missense_Mutation_p.N432K|CDH18_ENST00000274170.4_Missense_Mutation_p.N432K|CDH18_ENST00000382275.1_Missense_Mutation_p.N432K Q13634 CAD18_HUMAN cadherin 18, type 2 432 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) TGGCATCAATGTTGAAAAATC 0.353000 26 59 9.57634e-11 1.25742e-10 1 1 0 TPSB2 64499 broad.mit.edu 37 16 1279674 1279674 + RNA SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr16:1279674C>A ENST00000430512.2 - 0 177 TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000339687.6_RNA NM_024164.5 NP_077078.5 P20231 TRYB2_HUMAN tryptase beta 2 (gene/pseudogene) proteolysis extracellular region protein binding|serine-type endopeptidase activity lung(1)|upper_aerodigestive_tract(1) 2 Hepatocellular(780;0.00369) CCTGCCAGGGCCACTTGCTCC 0.697000 6 35 0.0293803 0.0297747 1 1 0 ANKRD33 341405 broad.mit.edu 37 12 52284470 52284470 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:52284470T>A ENST00000301190.6 + 5 967 c.740T>A c.(739-741)cTg>cAg p.L247Q ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.L53Q|ANKRD33_ENST00000340970.4_Missense_Mutation_p.L122Q NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 122 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) CGGCAGCTGCTGAGGCGGCCC 0.677000 9 21 0 0 1 0 0 CEP120 153241 broad.mit.edu 37 5 122718566 122718566 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:122718566C>A ENST00000306467.5 - 13 2182 c.1878G>T c.(1876-1878)caG>caT p.Q626H CEP120_ENST00000328236.5_Missense_Mutation_p.Q626H|CEP120_ENST00000306481.6_Missense_Mutation_p.Q600H Q8N960 CE120_HUMAN centrosomal protein 120kDa 626 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 ACGGCTTTTGCTGTACGGCAG 0.393000 18 46 6.94344e-10 8.84776e-10 1 1 0 DNAJB11 51726 broad.mit.edu 37 3 186299189 186299189 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:186299189G>T ENST00000439351.1 + 6 1415 c.486G>T c.(484-486)caG>caT p.Q162H DNAJB11_ENST00000265028.3_Missense_Mutation_p.Q162H Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 162 protein folding endoplasmic reticulum lumen heat shock protein binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) TGGCAAGGCAGGCTCCTGGCA 0.512000 7 43 0.0293803 0.0297747 1 1 0 TENM2 57451 broad.mit.edu 37 5 167674518 167674518 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:167674518C>T ENST00000519204.1 + 26 6329 c.6211C>T c.(6211-6213)Ctg>Ttg p.L2071L TENM2_ENST00000403607.2_Silent_p.L2016L|TENM2_ENST00000520394.1_Silent_p.L1953L|TENM2_ENST00000545108.1_Silent_p.L2191L|TENM2_ENST00000518659.1_Silent_p.L2192L teneurin transmembrane protein 2 GGAGCTAAAACTGGGGCCCTA 0.572000 12 24 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108388547 108388547 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:108388547G>C ENST00000361582.3 + 22 2673 c.2443G>C c.(2443-2445)Gct>Cct p.A815P DZIP3_ENST00000463306.1_Missense_Mutation_p.A815P NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 815 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 TCAAATCCATGCTAAAGATAA 0.343000 12 36 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55626470 55626470 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:55626470A>T ENST00000373965.2 - 28 4064 c.3670T>A c.(3670-3672)Tac>Aac p.Y1224N PCDH15_ENST00000437009.1_Missense_Mutation_p.Y1146N|PCDH15_ENST00000414778.1_Missense_Mutation_p.Y1222N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.Y1195N|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.Y828N|PCDH15_ENST00000395438.1_Missense_Mutation_p.Y1217N|PCDH15_ENST00000395430.1_Missense_Mutation_p.Y1217N|PCDH15_ENST00000361849.3_Missense_Mutation_p.Y1217N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.Y1224N|PCDH15_ENST00000395432.2_Missense_Mutation_p.Y1180N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.Y1217N|PCDH15_ENST00000463095.1_5'UTR NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1217 Cadherin 11. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AACTTGAAGTAGGATCTCCTC 0.398000 HNSCC(58;0.16) 9 45 0 0 1 0 0 ENG 2022 broad.mit.edu 37 9 130586703 130586703 + Silent SNP G G T rs45439096 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr9:130586703G>T ENST00000344849.3 - 8 1294 c.1014C>A c.(1012-1014)ccC>ccA p.P338P ENG_ENST00000480266.1_5'UTR|ENG_ENST00000373203.4_Silent_p.P338P P17813 EGLN_HUMAN endoglin 338 Ser/Thr-rich. artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 GGATCGGTGCGGGTGAGGTCT 0.587000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 11 22 4.68919e-08 5.61958e-08 1 1 0 PEG3 5178 broad.mit.edu 37 19 57328491 57328491 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:57328491G>T ENST00000326441.9 - 10 1682 c.1319C>A c.(1318-1320)aCc>aAc p.T440N PEG3_ENST00000593695.1_Missense_Mutation_p.T314N|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.T316N|PEG3_ENST00000423103.2_Missense_Mutation_p.T440N|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 440 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTGTGACTCGGTAAAGGAGGG 0.498000 47 129 2.77807e-22 4.3358e-22 1 1 0 FSCB 84075 broad.mit.edu 37 14 44974065 44974065 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr14:44974065G>T ENST00000340446.4 - 1 2417 c.2126C>A c.(2125-2127)gCa>gAa p.A709E NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 709 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) GGCCTCTTCTGCAGGGACATC 0.537000 20 23 4.96729e-08 5.91764e-08 1 1 0 REXO1 57455 broad.mit.edu 37 19 1827786 1827786 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:1827786C>A ENST00000170168.4 - 2 1096 c.1002G>T c.(1000-1002)ctG>ctT p.L334L REXO1_ENST00000587524.1_5'UTR NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 334 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGTCTCCCGCAGGCCGCCCC 0.726000 6 4 0.00116845 0.00123166 1 1 0 LGALS4 3960 broad.mit.edu 37 19 39292721 39292721 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:39292721C>T ENST00000307751.4 - 9 1213 c.736G>A c.(736-738)Gtg>Atg p.V246M NM_006149.3 NP_006140.1 P56470 LEG4_HUMAN lectin, galactoside-binding, soluble, 4 246 Galectin 2. cell adhesion cytosol|plasma membrane sugar binding NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) TTCCGGACCACGGTACCGTTG 0.557000 31 60 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103119905 103119905 + Splice_Site SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:103119905A>G ENST00000295269.4 + 3 1177 c.e3-1 NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 TTTTTTGCCTAGGTCTTATAC 0.338000 4 21 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158581118 158581118 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:158581118C>G ENST00000368148.3 - 52 7376 c.7196G>C c.(7195-7197)cGg>cCg p.R2399P SPTA1_ENST00000368147.3_Missense_Mutation_p.R2396P NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2399 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GCTTCGACCCCGTGGGTCCAT 0.443000 48 50 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78329134 78329134 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:78329134G>T ENST00000255189.3 - 8 1319 c.1291C>A c.(1291-1293)Cgc>Agc p.R431S DMGDH_ENST00000540686.1_Missense_Mutation_p.R51S|DMGDH_ENST00000380311.4_Missense_Mutation_p.R230S NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 431 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TTGCCATAGCGATTAGGATCC 0.423000 38 63 8.73648e-17 1.2839e-16 1 1 0 VCAN 1462 broad.mit.edu 37 5 82836456 82836456 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:82836456T>C ENST00000265077.3 + 8 8199 c.7634T>C c.(7633-7635)aTa>aCa p.I2545T VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.I1558T NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2545 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AATATTATCATAGACCTGGAC 0.378000 21 76 0 0 1 0 0 CD1B 910 broad.mit.edu 37 1 158298716 158298716 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:158298716C>A ENST00000368168.3 - 5 1082 c.975G>T c.(973-975)agG>agT p.R325S NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 325 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding p.R325R(1) breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) CTCACCGGCGCCTCATATACC 0.383000 8 37 0.27861 0.279072 1 1 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253728 32253728 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr21:32253728C>A ENST00000332378.4 - 1 146 c.116G>T c.(115-117)gGc>gTc p.G39V NM_175858.2 NP_787054.1 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 39 keratin filament structural molecule activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 CAAACAGATGCCGCCCAGGCA 0.572000 17 28 2.35188e-11 3.11521e-11 1 1 0 WDFY3 23001 broad.mit.edu 37 4 85731139 85731139 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:85731139T>A ENST00000322366.6 - 14 2653 c.2246A>T c.(2245-2247)gAg>gTg p.E749V WDFY3_ENST00000295888.4_Missense_Mutation_p.E749V|WDFY3-AS1_ENST00000510449.1_RNA Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 749 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TACATCTTCCTCTAAAAGTCT 0.398000 38 86 0 0 1 0 0 KCTD10 83892 broad.mit.edu 37 12 109893983 109893983 + Silent SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:109893983C>G ENST00000228495.6 - 6 944 c.663G>C c.(661-663)cgG>cgC p.R221R KCTD10_ENST00000424763.2_Silent_p.R40R|KCTD10_ENST00000540089.1_Silent_p.R40R|KCTD10_ENST00000540411.1_Silent_p.R195R|KCTD10_ENST00000538161.1_5'UTR NM_031954.3 NP_114160.1 Q9H3F6 BACD3_HUMAN potassium channel tetramerization domain containing 10 221 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 10 CAGCAATCTTCCGGCCCTGAC 0.478000 10 76 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149551 34149551 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chrX:34149551C>T ENST00000346193.3 - 1 896 c.845G>A c.(844-846)gGc>gAc p.G282D NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 282 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CTTCTCCCGGCCCTCACAAGG 0.582000 19 15 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55087389 55087389 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:55087389C>A ENST00000251377.3 + 7 1201 c.1068C>A c.(1066-1068)acC>acA p.T356T LILRA2_ENST00000391737.1_Silent_p.T344T|LILRA2_ENST00000251376.3_Silent_p.T356T|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.T356T leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) TCCTTCTGACCAAGGAGGGGG 0.612000 24 58 4.16121e-05 4.60324e-05 1 1 0 TULP3 7289 broad.mit.edu 37 12 3018726 3018726 + Nonsense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:3018726C>T ENST00000448120.2 + 2 124 c.73C>T c.(73-75)Cag>Tag p.Q25* TULP3_ENST00000397132.2_Nonsense_Mutation_p.Q25* NM_003324.4 NP_003315.2 O75386 TULP3_HUMAN tubby like protein 3 25 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GAAGATGCGACAGGCTAAGCT 0.378000 41 180 0 0 1 0 0 OXCT1 5019 broad.mit.edu 37 5 41762287 41762287 + Nonsense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:41762287C>A ENST00000196371.5 - 14 1424 c.1264G>T c.(1264-1266)Gga>Tga p.G422* OXCT1_ENST00000510634.1_Nonsense_Mutation_p.G25*|OXCT1_ENST00000512084.1_Nonsense_Mutation_p.G25*|OXCT1_ENST00000509987.1_Nonsense_Mutation_p.G236*|OXCT1_ENST00000513081.1_5'UTR NM_000436.3 NP_000427.1 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 422 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2) 28 Succinic acid(DB00139) CCTCCCATTCCTTTCACCATC 0.393000 28 137 2.61193e-14 3.7033e-14 1 1 0 ARHGAP4 393 broad.mit.edu 37 X 153184454 153184454 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chrX:153184454C>T ENST00000370028.3 - 8 1041 c.984G>A c.(982-984)acG>acA p.T328T ARHGAP4_ENST00000370016.1_Silent_p.T267T|ARHGAP4_ENST00000537206.1_Silent_p.T265T|ARHGAP4_ENST00000350060.5_Silent_p.T288T|ARHGAP4_ENST00000393721.1_Intron NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 288 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCTCAGCGGCCGTGTAGCTCC 0.642000 37 12 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248367063 248367063 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:248367063G>T ENST00000456743.1 + 1 732 c.694G>T c.(694-696)Gag>Tag p.E232* NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E232K(1) endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGGATCTGGAGAGGGTCGTCG 0.448000 10 271 2.27111e-07 2.64306e-07 1 1 0 CCT6P1 643253 broad.mit.edu 37 7 65219610 65219610 + RNA SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:65219610G>C ENST00000442266.1 + 0 282 CCTAATCATTGGAGAGCTGCT 0.413000 21 51 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196887415 196887415 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:196887415A>G ENST00000367416.2 + 10 1750 c.1613A>G c.(1612-1614)tAt>tGt p.Y538C CFHR4_ENST00000367418.1_Missense_Mutation_p.Y292C|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.Y292C NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 ATAAAATATTATGCAAAAACA 0.299000 30 86 0 0 1 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227333230 227333230 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:227333230G>A ENST00000366769.3 - 8 2394 c.1103C>T c.(1102-1104)aCa>aTa p.T368I CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T368I|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T368I|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T368I|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T368I|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T368I|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T368I NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 368 AGC-kinase C-terminal. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) AAAATTCGATGTATCTGTTGG 0.343000 19 97 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 116887422 116887422 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:116887422A>G ENST00000355044.3 + 4 683 c.557A>G c.(556-558)tAt>tGt p.Y186C ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.Y186C NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 186 CUB. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) ACATCTGGCTATGCACTGTTA 0.318000 6 16 0 0 1 0 0 ARID5B 84159 broad.mit.edu 37 10 63662049 63662049 + Silent SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:63662049G>C ENST00000279873.7 + 2 563 c.153G>C c.(151-153)ccG>ccC p.P51P NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 51 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CAAAGGATCCGATTTGCATAG 0.458000 13 46 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131797653 131797653 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:131797653C>A ENST00000286355.5 - 16 5221 c.3129G>T c.(3127-3129)gtG>gtT p.V1043V ADCY8_ENST00000377928.3_Silent_p.V912V NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 1043 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) ACAGGCCTGACACGGCCATGT 0.502000 HNSCC(32;0.087) 10 66 2.17888e-05 2.43711e-05 1 1 0 GLIPR1 11010 broad.mit.edu 37 12 75875806 75875806 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:75875806G>C ENST00000266659.3 + 2 568 c.367G>C c.(367-369)Gac>Cac p.D123H NM_006851.2 NP_006842.2 P48060 GLIP1_HUMAN GLI pathogenesis-related 1 123 cellular lipid metabolic process extracellular region|integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 14 CGAAATCCAGGACTATGACTT 0.443000 60 73 0 0 1 0 0 KRT16P3 644945 broad.mit.edu 37 17 20405887 20405887 + RNA SNP C C T rs147457236 by1000genomes TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr17:20405887C>T ENST00000580113.1 - 0 976 GCTGCTGTGCCGGGTCCTTCA 0.577000 3 46 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21751848 21751848 + Nonstop_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:21751848A>T ENST00000382254.1 - 15 3469 c.2383T>A c.(2383-2385)Taa>Aaa p.*795K CDH12_ENST00000522262.1_Nonstop_Mutation_p.*755K|CDH12_ENST00000504376.2_Nonstop_Mutation_p.*795K|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 0 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 CGACTCCCTTAAGTGACTTTA 0.413000 HNSCC(59;0.17) 36 93 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784198 9784198 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:9784198G>T ENST00000304374.2 + 1 941 c.545G>T c.(544-546)aGg>aTg p.R182M NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 182 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) AACTGGCACAGGGACCAGGCG 0.617000 18 48 1.33834e-09 1.68407e-09 1 1 0 TRPS1 7227 broad.mit.edu 37 8 116616637 116616637 + Missense_Mutation SNP T T G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:116616637T>G ENST00000395715.3 - 4 2136 c.1559A>C c.(1558-1560)aAg>aCg p.K520T TRPS1_ENST00000519674.1_Missense_Mutation_p.K507T|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Missense_Mutation_p.K511T|TRPS1_ENST00000220888.5_Missense_Mutation_p.K507T NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 507 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GAAGTCCTTCTTTTTAGCCCC 0.453000 Langer-Giedion syndrome 32 124 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123811050 123811050 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:123811050C>A ENST00000307033.2 + 1 801 c.727C>A c.(727-729)Cac>Aac p.H243N NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CTGTGCCTCTCACATTGCTGT 0.537000 37 200 1.36161e-19 2.07681e-19 1 1 0 HDAC9 9734 broad.mit.edu 37 7 18625005 18625005 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:18625005C>A ENST00000406451.3 + 3 274 c.124C>A c.(124-126)Cgt>Agt p.R42S HDAC9_ENST00000441542.2_Missense_Mutation_p.R42S|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84S|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11S|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42S|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11S|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70S|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42S|HDAC9_ENST00000428307.2_Missense_Mutation_p.R42S|HDAC9_ENST00000432645.2_Missense_Mutation_p.R42S NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 42 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) CCCTGTTGTCCGTGAGAAGCA 0.493000 38 88 1.836e-18 2.76545e-18 1 1 0 PCDHB2 56133 broad.mit.edu 37 5 140475710 140475710 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:140475710G>T ENST00000194155.4 + 1 1484 c.1336G>T c.(1336-1338)Gtc>Ttc p.V446F NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 446 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCTCCGACGTCAATGACAA 0.602000 14 154 3.62473e-10 4.65817e-10 1 1 0 ZFC3H1 196441 broad.mit.edu 37 12 72004858 72004858 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:72004858C>A ENST00000378743.3 - 33 6107 c.5749G>T c.(5749-5751)Gtt>Ttt p.V1917F NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1917 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CCCTTTAGAACAATCTCAGCA 0.303000 47 141 1.38658e-30 2.25132e-30 1 1 0 LRRFIP2 9209 broad.mit.edu 37 3 37095392 37095392 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:37095392G>A ENST00000421307.1 - 29 2538 c.2116C>T c.(2116-2118)Cgg>Tgg p.R706W LRRFIP2_ENST00000354379.4_Missense_Mutation_p.R385W|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.R409W|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.R409W|MLH1_ENST00000536378.1_Intron|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.R488W|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.R706W NM_006309.2 NP_006300.1 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting protein 2 706 Wnt receptor signaling pathway LRR domain binding p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 TTCTCCAGCCGCTTGGCCAGG 0.542000 14 87 0 0 1 0 0 C3orf56 285311 broad.mit.edu 37 3 126915629 126915629 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:126915629G>T ENST00000398112.1 + 2 341 c.101G>T c.(100-102)tGg>tTg p.W34L NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) TCAACCCCCTGGGTGGCCATG 0.612000 5 18 0.014758 0.0150571 1 1 0 MYO7B 4648 broad.mit.edu 37 2 128351131 128351131 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:128351131A>T ENST00000389524.4 + 18 2209 c.2156A>T c.(2155-2157)aAg>aTg p.K719M MYO7B_ENST00000428314.1_Missense_Mutation_p.K719M|MYO7B_ENST00000409816.2_Missense_Mutation_p.K719M Q6PIF6 MYO7B_HUMAN myosin VIIB 719 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CTGCAAGGCAAGCTCCGCCAG 0.612000 27 27 0 0 1 0 0 RGS5 8490 broad.mit.edu 37 1 163131739 163131739 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:163131739C>A ENST00000313961.5 - 3 460 c.183G>T c.(181-183)tgG>tgT p.W61C RGS5_ENST00000367903.3_Missense_Mutation_p.W81C|RGS5_ENST00000530507.1_Missense_Mutation_p.W61C|RGS5_ENST00000534288.1_5'UTR|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000527988.1_Intron NM_001254749.1|NM_003617.3 NP_001241678.1|NP_003608.1 O15539 RGS5_HUMAN regulator of G-protein signaling 5 61 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 LUSC - Lung squamous cell carcinoma(543;0.187) GGGAATCACGCCACTGCAGGG 0.413000 4 46 0.00909568 0.0093911 1 1 0 ASXL3 80816 broad.mit.edu 37 18 31324356 31324356 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr18:31324356C>G ENST00000269197.5 + 12 4544 c.4544C>G c.(4543-4545)gCg>gGg p.A1515G NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1515 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CAGCCCGTGGCGTGTCCTCAG 0.542000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 68 0 0 1 0 0 LENG1 79165 broad.mit.edu 37 19 54659539 54659539 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:54659539G>A ENST00000222224.3 - 4 901 c.715C>T c.(715-717)Cgg>Tgg p.R239W NM_024316.1 NP_077292.1 Q96BZ8 LENG1_HUMAN leukocyte receptor cluster (LRC) member 1 239 breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1) 8 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CGCCGCCGCCGGTCATCCGTC 0.677000 4 15 0 0 1 0 0 P2RX7 5027 broad.mit.edu 37 12 121622337 121622337 + Missense_Mutation SNP T T G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:121622337T>G ENST00000328963.5 + 12 1464 c.1010T>G c.(1009-1011)aTc>aGc p.I337S P2RX7_ENST00000541446.1_Missense_Mutation_p.I218S|P2RX7_ENST00000546057.1_Missense_Mutation_p.I507S|P2RX7_ENST00000535250.1_Missense_Mutation_p.I417S|P2RX7_ENST00000443520.3_3'UTR A8K2Z0 A8K2Z0_HUMAN purinergic receptor P2X, ligand-gated ion channel, 7 507 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GGGGCCTGCATCACCACCTCA 0.622000 4 24 0 0 1 0 0 OSBPL10 114884 broad.mit.edu 37 3 31774867 31774867 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:31774867G>C ENST00000396556.2 - 6 1099 c.977C>G c.(976-978)tCc>tGc p.S326C OSBPL10_ENST00000438237.2_Missense_Mutation_p.S262C|OSBPL10_ENST00000467647.1_5'UTR NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 326 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) CTGCTCTGTGGAATGTGACTT 0.423000 33 100 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56243628 56243628 + Silent SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:56243628T>A ENST00000332836.2 - 2 1596 c.1569A>T c.(1567-1569)atA>atT p.I523I NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 523 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) GGCATTGGGTTATTTCCTGCT 0.398000 32 95 0 0 1 0 0 RTN4 57142 broad.mit.edu 37 2 55253825 55253825 + Silent SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:55253825T>C ENST00000337526.6 - 3 1653 c.1410A>G c.(1408-1410)gcA>gcG p.A470A RTN4_ENST00000404909.1_Silent_p.A264A|RTN4_ENST00000405240.1_Silent_p.A264A|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Silent_p.A264A|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Silent_p.A264A|RTN4_ENST00000354474.6_Silent_p.A238A|RTN4_ENST00000317610.7_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 470 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 TCTCAGTTGCTGCTGGGTTAA 0.388000 65 97 0 0 1 0 0 BPIFB2 80341 broad.mit.edu 37 20 31601647 31601647 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr20:31601647G>T ENST00000170150.3 + 5 535 c.340G>T c.(340-342)Gtg>Ttg p.V114L NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 114 extracellular region lipid binding GACGCTGCCTGTGGAACTGCT 0.627000 18 33 4.75885e-15 6.82742e-15 1 1 0 HHIPL2 79802 broad.mit.edu 37 1 222717137 222717137 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:222717137C>A ENST00000343410.6 - 2 774 c.716G>T c.(715-717)gGa>gTa p.G239V NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 239 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) CCACACCACTCCTACCTGCTC 0.612000 35 37 8.4185e-14 1.18251e-13 1 1 0 BNIPL 149428 broad.mit.edu 37 1 151010080 151010080 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:151010080G>T ENST00000368931.3 + 2 235 c.79G>T c.(79-81)Gcc>Tcc p.A27S BNIPL_ENST00000295294.7_5'UTR NM_138278.3 NP_612122.2 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein like 27 apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate cytosol|nucleus identical protein binding autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1) 10 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ACTAGGAGCAGCCCTGAGACA 0.512000 3 11 0.004672 0.00487373 1 1 0 OR6N1 128372 broad.mit.edu 37 1 158735719 158735719 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:158735719A>G ENST00000335094.2 - 1 773 c.754T>C c.(754-756)Tat>Cat p.Y252H NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) ATGCTCCCATAGAAGATGAGA 0.537000 63 110 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128561257 128561257 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:128561257C>A ENST00000368227.3 - 5 982 c.616G>T c.(616-618)Gtg>Ttg p.V206L PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.V206L|PTPRK_ENST00000368207.3_Missense_Mutation_p.V206L|PTPRK_ENST00000532331.1_Missense_Mutation_p.V206L|PTPRK_ENST00000368226.4_Missense_Mutation_p.V206L|PTPRK_ENST00000368210.3_Missense_Mutation_p.V206L|PTPRK_ENST00000368213.5_Missense_Mutation_p.V206L Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 206 Ig-like C2-type. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CCTGCATTCACCTCTACATCC 0.433000 12 17 0.00185496 0.00194851 1 1 0 TGM3 7053 broad.mit.edu 37 20 2320589 2320589 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr20:2320589G>T ENST00000381458.5 + 12 1953 c.1890G>T c.(1888-1890)ctG>ctT p.L630L NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 630 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity p.L630fs*5(1) breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) ACTGCGTGCTGATGGTGGAGG 0.647000 5 8 0.014758 0.0150571 1 1 0 CCDC112 153733 broad.mit.edu 37 5 114607027 114607027 + Silent SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:114607027G>C ENST00000379611.5 - 7 1502 c.1215C>G c.(1213-1215)acC>acG p.T405T CCDC112_ENST00000506442.1_Silent_p.T322T|CCDC112_ENST00000395557.4_Silent_p.T322T|CCDC112_ENST00000512261.1_Silent_p.T322T NM_001040440.2 NP_001035530.1 Q8NEF3 CC112_HUMAN coiled-coil domain containing 112 322 endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1) 20 all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06) TCTTCTGCTGGGTATAACTTT 0.358000 24 94 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123813921 123813921 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:123813921C>T ENST00000321252.2 - 1 659 c.625G>A c.(625-627)Ggc>Agc p.G209S NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GCCAGTGAGCCCAGTAACACC 0.547000 19 76 0 0 1 0 0 GRIA4 2893 broad.mit.edu 37 11 105732770 105732770 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:105732770A>G ENST00000393127.2 + 5 954 c.508A>G c.(508-510)Att>Gtt p.I170V GRIA4_ENST00000428631.2_Missense_Mutation_p.I170V|GRIA4_ENST00000393125.2_Missense_Mutation_p.I170V|GRIA4_ENST00000525187.1_Missense_Mutation_p.I170V|GRIA4_ENST00000530497.1_Missense_Mutation_p.I170V|GRIA4_ENST00000282499.5_Missense_Mutation_p.I170V NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 170 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) ACTCCAAGCTATTATGGAAAA 0.368000 18 63 0 0 1 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070069 141070069 + RNA SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr9:141070069C>T ENST00000503395.1 + 0 1149 GGTACGTGCCCCGCGCTGTGC 0.711000 3 47 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29725152 29725152 + Splice_Site SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:29725152C>G ENST00000256062.5 - 9 1568 c.e9-1 TMTC1_ENST00000319685.8_Splice_Site|TMTC1_ENST00000539277.1_Splice_Site|TMTC1_ENST00000551659.1_Splice_Site|TMTC1_ENST00000381224.2_Splice_Site|TMTC1_ENST00000552618.1_Intron NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) AACTCCAGACCTAAAATGAAT 0.358000 13 57 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179596793 179596793 + Splice_Site SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:179596793C>T ENST00000589042.1 - 57 17127 c.16903_splice c.e57+1 p.E5635_splice TTN_ENST00000591111.1_Splice_Site_p.E5318_splice|TTN_ENST00000342992.6_Splice_Site_p.E4391_splice|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5318 Ig-like 37. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAACACAAACCTTTGACTATT 0.453000 57 118 0 0 1 0 0 OR10AD1 121275 broad.mit.edu 37 12 48596967 48596967 + Missense_Mutation SNP G G T rs139314602 byFrequency TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:48596967G>T ENST00000310248.2 - 1 203 c.109C>A c.(109-111)Ctc>Atc p.L37I NM_001004134.1 NP_001004134.1 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, member 1 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1) 9 GCCATGGTGAGGCTGTAGAGG 0.532000 5 53 0.000602214 0.000642646 1 1 0 ABCA10 10349 broad.mit.edu 37 17 67170797 67170797 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr17:67170797T>A ENST00000269081.4 - 25 3908 c.2999A>T c.(2998-3000)tAc>tTc p.Y1000F ABCA10_ENST00000519732.1_Intron|ABCA10_ENST00000416101.2_3'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 1000 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) AAATATGAAGTAGTAAATTAA 0.368000 51 46 0 0 1 0 0 CD300E 342510 broad.mit.edu 37 17 72610148 72610148 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr17:72610148G>A ENST00000392619.1 - 3 529 c.494C>T c.(493-495)aCa>aTa p.T165I CD300E_ENST00000426295.2_Missense_Mutation_p.T179I|CD300E_ENST00000328630.3_Missense_Mutation_p.T138I NM_181449.2 NP_852114.2 Q496F6 CLM2_HUMAN CD300e molecule 138 integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 GGCTGGATGTGTGGTCCTCCT 0.562000 19 13 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158487537 158487537 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:158487537G>T ENST00000355585.4 + 12 1662 c.1587G>T c.(1585-1587)cgG>cgT p.R529R SYNJ2_ENST00000367122.2_Silent_p.R529R|SYNJ2_ENST00000367121.3_Silent_p.R529R|SYNJ2_ENST00000449859.2_Silent_p.R457R NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 529 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) ATTTCAAGCGGATCCGGATTG 0.537000 46 28 2.37825e-27 3.82038e-27 1 1 0 SGIP1 84251 broad.mit.edu 37 1 67205172 67205172 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:67205172T>C ENST00000371037.4 + 22 2263 c.2186T>C c.(2185-2187)aTc>aCc p.I729T SGIP1_ENST00000371036.3_Missense_Mutation_p.I531T|SGIP1_ENST00000371039.1_Missense_Mutation_p.I532T|SGIP1_ENST00000237247.6_Missense_Mutation_p.I760T|SGIP1_ENST00000371035.3_Missense_Mutation_p.I519T|SGIP1_ENST00000435165.2_Missense_Mutation_p.I234T NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 729 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 CTGGTCCCCATCGACGGAGGA 0.532000 12 33 0 0 1 0 0 RHCG 51458 broad.mit.edu 37 15 90020392 90020392 + Silent SNP G G C rs147663877 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr15:90020392G>C ENST00000268122.4 - 8 1226 c.1158C>G c.(1156-1158)acC>acG p.T386T RHCG_ENST00000544600.1_Silent_p.T386T NM_016321.1 NP_057405.1 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 386 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) GTGTTCTTGCGGTCCAGTCCC 0.567000 32 55 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834434 101834434 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:101834434G>T ENST00000506729.1 - 1 286 c.115C>A c.(115-117)Ccg>Acg p.P39T SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P39T|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P39T|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P39T|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P39T Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 39 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GAGGACTTCGGGGTTCCCTTG 0.597000 88 128 1.3466e-33 2.21621e-33 1 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37431000 37431000 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:37431000C>G ENST00000374660.1 + 7 1106 c.1007C>G c.(1006-1008)cCt>cGt p.P336R ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P336R|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P336R Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 392 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.P336R(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GAAGACACACCTAGGGAAATT 0.428000 14 72 0 0 1 0 0 CNGA4 1262 broad.mit.edu 37 11 6263054 6263054 + Silent SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:6263054T>A ENST00000533426.1 + 5 769 c.618T>A c.(616-618)ggT>ggA p.G206G CNGA4_ENST00000379936.2_Intron Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 564 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGGGTGGGGTAGGGGGGAAC 0.532000 36 32 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30991502 30991502 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr16:30991502G>T ENST00000262519.8 + 14 5081 c.4395G>T c.(4393-4395)tgG>tgT p.W1465C NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1465 Interaction with ASH2L, RBBP5 and WDR5. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 ACACTCACTGGGTCCATCACA 0.632000 10 11 2.17888e-05 2.43711e-05 1 1 0 POU6F2 11281 broad.mit.edu 37 7 39379567 39379567 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:39379567C>A ENST00000518318.2 + 5 880 c.838C>A c.(838-840)Cca>Aca p.P280T POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.P272T|POU6F2_ENST00000403058.1_Missense_Mutation_p.P280T P78424 PO6F2_HUMAN POU class 6 homeobox 2 280 Gln-rich.|Pro-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 TAGTCAGTCTCCAGGACATGG 0.612000 18 45 7.45023e-12 9.99986e-12 1 1 0 POM121L12 285877 broad.mit.edu 37 7 53103433 53103433 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:53103433G>T ENST00000408890.4 + 1 85 c.69G>T c.(67-69)ctG>ctT p.L23L NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 23 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 AACCCCTGCTGCAAGGCCCCG 0.711000 9 16 0.0477658 0.0483258 1 1 0 SLC25A2 83884 broad.mit.edu 37 5 140683432 140683432 + Translation_Start_Site SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:140683432T>C ENST00000239451.4 - 1 180 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_031947.2 NP_114153.1 Q9BXI2 ORNT2_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 1 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) CCGGACTTCATGTTCGCTCAC 0.632000 14 18 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109475613 109475613 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr13:109475613C>A ENST00000356711.2 + 9 1144 c.1018C>A c.(1018-1020)Ctg>Atg p.L340M MYO16_ENST00000357550.2_Missense_Mutation_p.L340M|MYO16_ENST00000251041.5_Missense_Mutation_p.L340M NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 340 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TCTTCCCGTACTGTCGAGTAA 0.433000 47 36 1.00953e-15 1.45875e-15 1 1 0 RAP1GAP 5909 broad.mit.edu 37 1 21926000 21926000 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:21926000T>C ENST00000542643.2 - 23 2143 c.1841A>G c.(1840-1842)gAg>gGg p.E614G RAP1GAP_ENST00000374763.2_Missense_Mutation_p.E673G|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.E588G|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.E652G|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.E619G NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 588 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) GCCTGTGTCCTCTCCGTCCAC 0.657000 10 61 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 391044 391044 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:391044C>T ENST00000256509.2 + 10 1493 c.851C>T c.(850-852)cCa>cTa p.P284L CHL1_ENST00000397491.2_Missense_Mutation_p.P268L NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 268 Ig-like C2-type 3. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) ttttGCAGGCCAACTCCACAG 0.343000 22 49 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55782795 55782795 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:55782795C>G ENST00000373965.2 - 20 2798 c.2404G>C c.(2404-2406)Gca>Cca p.A802P PCDH15_ENST00000437009.1_Missense_Mutation_p.A724P|PCDH15_ENST00000414778.1_Missense_Mutation_p.A800P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A773P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.A795P|PCDH15_ENST00000409834.1_Missense_Mutation_p.A406P|PCDH15_ENST00000395438.1_Missense_Mutation_p.A795P|PCDH15_ENST00000395430.1_Missense_Mutation_p.A795P|PCDH15_ENST00000361849.3_Missense_Mutation_p.A795P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.A802P|PCDH15_ENST00000395432.2_Missense_Mutation_p.A758P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.A795P NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 795 Cadherin 7. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GGGTGTACTGCTCCATCTGTT 0.428000 HNSCC(58;0.16) 24 59 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50765733 50765733 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:50765733G>T ENST00000404971.1 - 11 3260 c.1921C>A c.(1921-1923)Cct>Act p.P641T NRXN1_ENST00000402717.3_Missense_Mutation_p.P593T|NRXN1_ENST00000401669.2_Missense_Mutation_p.P601T|NRXN1_ENST00000406316.2_Missense_Mutation_p.P601T|NRXN1_ENST00000406859.3_Missense_Mutation_p.P601T|NRXN1_ENST00000405472.3_Missense_Mutation_p.P593T|NRXN1_ENST00000331040.5_5'UTR NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 601 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CTCTCACCAGGAGCAGTGTAG 0.483000 13 64 5.50884e-06 6.24266e-06 1 1 0 C2orf57 165100 broad.mit.edu 37 2 232457722 232457722 + Silent SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:232457722A>T ENST00000313965.2 + 1 148 c.60A>T c.(58-60)ccA>ccT p.P20P NM_152614.2 NP_689827.2 Q53QW1 CB057_HUMAN chromosome 2 open reading frame 57 20 endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 19 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) AGGACAGCCCAGCAGGAGAGC 0.617000 21 54 0 0 1 0 0 HCST 10870 broad.mit.edu 37 19 36394674 36394674 + Splice_Site SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:36394674G>A ENST00000246551.4 + 3 224 c.109_splice c.e3-1 p.G37_splice HCST_ENST00000437550.2_Splice_Site_p.G37_splice Q9UBK5 HCST_HUMAN hematopoietic cell signal transducer 37 regulation of immune response integral to membrane|plasma membrane lung(4) 4 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CACTCTCCAGGCTCTTGTTCC 0.667000 8 28 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197404183 197404183 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:197404183A>G ENST00000367397.1 + 5 2191 c.1333A>G c.(1333-1335)Agc>Ggc p.S445G CRB1_ENST00000367400.3_Missense_Mutation_p.S1064G|CRB1_ENST00000367399.2_Missense_Mutation_p.S952G|CRB1_ENST00000535699.1_Missense_Mutation_p.S1040G|CRB1_ENST00000544212.1_Missense_Mutation_p.S545G|CRB1_ENST00000538660.1_Intron P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1064 EGF-like 11. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTTTGTGACCAGCACAATTGC 0.468000 30 97 0 0 1 0 0 OR2T1 26696 broad.mit.edu 37 1 248570230 248570230 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:248570230C>A ENST00000366474.1 + 1 935 c.935C>A c.(934-936)cCa>cAa p.P312Q NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TACATGCTGCCACATTCTTAC 0.517000 64 73 5.5144e-22 8.58428e-22 1 1 0 KCNB2 9312 broad.mit.edu 37 8 73850036 73850036 + Silent SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:73850036T>C ENST00000523207.1 + 3 3034 c.2446T>C c.(2446-2448)Tta>Cta p.L816L NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 816 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CGAAGACTTCTTAGAGCTCCC 0.517000 36 56 0 0 1 0 0 BCL2L1 598 broad.mit.edu 37 20 30309575 30309575 + Silent SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr20:30309575T>C ENST00000307677.4 - 2 857 c.447A>G c.(445-447)gcA>gcG p.A149A BCL2L1_ENST00000420653.1_Silent_p.A149A|BCL2L1_ENST00000376062.2_Silent_p.A149A|BCL2L1_ENST00000376055.4_Intron NM_138578.1 NP_612815.1 Q07817 B2CL1_HUMAN BCL2-like 1 149 induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) CCACGCACAGTGCCCCGCCGA 0.537000 63 160 0 0 1 0 0 PMS2CL 441194 broad.mit.edu 37 7 6785797 6785797 + RNA SNP C C T rs141880038 by1000genomes TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:6785797C>T ENST00000486256.1 + 0 1941 NR_002217.1 AGAATGGCTTCGATTTTGTTA 0.398000 4 19 0 0 1 0 0 ENTPD8 377841 broad.mit.edu 37 9 140332726 140332726 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr9:140332726G>T ENST00000371506.2 - 2 195 c.12C>A c.(10-12)tcC>tcA p.S4S ENTPD8_ENST00000344119.2_Silent_p.S4S|ENTPD8_ENST00000472938.1_Silent_p.S4S NM_001033113.1 NP_001028285.1 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 4 integral to membrane|plasma membrane ATP binding biliary_tract(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) GCTCCTTCCGGGACAGCCCCA 0.687000 3 4 0.115264 0.115839 1 1 0 NYNRIN 57523 broad.mit.edu 37 14 24884783 24884783 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr14:24884783G>T ENST00000382554.3 + 9 4146 c.3828G>T c.(3826-3828)caG>caT p.Q1276H NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1276 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CCCTCCTCCAGGGCCTGCTGG 0.632000 37 31 1.42033e-22 2.22249e-22 1 1 0 SERF2 10169 broad.mit.edu 37 15 44085915 44085915 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr15:44085915G>T ENST00000381359.1 + 5 1053 c.124G>T c.(124-126)Gag>Tag p.E42* SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000403425.1_Nonsense_Mutation_p.E28*|SERF2_ENST00000249786.4_Nonsense_Mutation_p.E42*|SERF2_ENST00000339624.5_Silent_p.R49R|SERF2_ENST00000594896.1_Intron|MIR1282_ENST00000408865.1_RNA|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409960.2_Silent_p.R86R|SERF2_ENST00000402131.1_Nonsense_Mutation_p.E28*|SERF2_ENST00000409614.1_Nonsense_Mutation_p.E28* NM_001199877.1 NP_001186806.1 P84101 SERF2_HUMAN small EDRK-rich factor 2 42 cytosol|nucleus lung(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) CAGGGACTCGGAGATCATGCA 0.537000 30 61 1.2476e-16 1.829e-16 1 1 0 SLC32A1 140679 broad.mit.edu 37 20 37353530 37353530 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr20:37353530C>A ENST00000217420.1 + 1 426 c.163C>A c.(163-165)Cgc>Agc p.R55S NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 55 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CTTTGAGCACCGCCAGGGCCT 0.647000 12 22 1.08611e-07 1.28378e-07 1 1 0 ADAM2 2515 broad.mit.edu 37 8 39679175 39679175 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:39679175A>G ENST00000265708.4 - 5 377 c.274T>C c.(274-276)Tgc>Cgc p.C92R ADAM2_ENST00000347580.4_Missense_Mutation_p.C92R|ADAM2_ENST00000379853.2_Missense_Mutation_p.C92R|ADAM2_ENST00000521880.1_Missense_Mutation_p.C92R|ADAM2_ENST00000523181.1_5'UTR NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 92 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TGGTAGTGGCAGAAATTCTGA 0.303000 9 28 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580183 140580183 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:140580183A>G ENST00000354757.3 + 1 836 c.836A>G c.(835-837)tAt>tGt p.Y279C PCDHB11_ENST00000536699.1_5'UTR NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 279 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAATATGCTATACCTTTTCC 0.378000 38 165 0 0 1 0 0 FAM13C 220965 broad.mit.edu 37 10 61022232 61022232 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:61022232C>G ENST00000373867.3 - 11 1414 c.949G>C c.(949-951)Gag>Cag p.E317Q FAM13C_ENST00000442566.3_Missense_Mutation_p.E421Q|FAM13C_ENST00000435852.2_Missense_Mutation_p.E400Q|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000277705.6_Missense_Mutation_p.E421Q|FAM13C_ENST00000468840.2_Missense_Mutation_p.E317Q|FAM13C_ENST00000422313.2_Missense_Mutation_p.E400Q|FAM13C_ENST00000373868.2_Missense_Mutation_p.E400Q NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 400 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TCTCTTCTCTCCTTCAGGCAT 0.532000 12 45 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44859700 44859700 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr15:44859700T>A ENST00000261866.7 - 36 6692 c.6676A>T c.(6676-6678)Agc>Tgc p.S2226C SPG11_ENST00000427534.2_Missense_Mutation_p.S2226C|SPG11_ENST00000535302.2_Missense_Mutation_p.S2113C NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 2226 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CGGCACATGCTGAAGCACAGG 0.552000 22 33 0 0 1 0 0 CEBPG 1054 broad.mit.edu 37 19 33870449 33870449 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:33870449G>T ENST00000284000.3 + 2 966 c.304G>T c.(304-306)Gaa>Taa p.E102* NM_001252296.1|NM_001806.3 NP_001239225.1|NP_001797.1 P53567 CEBPG_HUMAN CCAAT/enhancer binding protein (C/EBP), gamma 102 Leucine-zipper. B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2) 7 Esophageal squamous(110;0.137) AGAAGAGAATGAACGGTTGGA 0.433000 18 27 1.99824e-07 2.32999e-07 1 1 0 TINAG 27283 broad.mit.edu 37 6 54254606 54254606 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:54254606G>T ENST00000259782.4 + 11 1410 c.1314G>T c.(1312-1314)tgG>tgT p.W438C NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 438 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) CCAATTCCTGGGGAAAGTCAT 0.393000 69 55 1.15074e-40 1.92002e-40 1 1 0 PCDHGA4 56111 broad.mit.edu 37 5 140737010 140737010 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:140737010C>A ENST00000571252.1 + 1 2243 c.2243C>A c.(2242-2244)gCt>gAt p.A748D PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGGTTCGGGCTTTCCTGCAG 0.612000 40 46 1.66425e-11 2.21411e-11 1 1 0 LEPREL2 10536 broad.mit.edu 37 12 6938928 6938928 + RNA SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:6938928G>A ENST00000251761.8 + 0 531 LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA NM_014262.3 NP_055077.2 leprecan-like 2 breast(1)|cervix(1)|endometrium(2)|lung(6) 10 GGCACCCAGAGTGTGTGTCTG 0.647000 OREG0021637 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 31 0 0 1 0 0 ETV6 2120 broad.mit.edu 37 12 12022774 12022774 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:12022774G>T ENST00000396373.4 + 5 1154 c.880G>T c.(880-882)Gag>Tag p.E294* NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 294 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CAGGCTCTCCGAGGACGGGCT 0.587000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 68 67 1.1794e-34 1.95167e-34 1 1 0 C8A 731 broad.mit.edu 37 1 57372451 57372451 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:57372451G>T ENST00000361249.3 + 8 1304 c.1208G>T c.(1207-1209)gGa>gTa p.G403V NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 403 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 AAAAAATTTGGAGGTGGCAAA 0.403000 23 111 9.95505e-16 1.44193e-15 1 1 0 RTDR1 27156 broad.mit.edu 37 22 23401822 23401822 + Missense_Mutation SNP G G T rs145071477 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr22:23401822G>T ENST00000216036.4 - 7 1061 c.865C>A c.(865-867)Cgc>Agc p.R289S NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 289 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) GCATTCAGGCGCGCTATGGTC 0.657000 25 79 3.01185e-09 3.75084e-09 1 1 0 LRGUK 136332 broad.mit.edu 37 7 133932320 133932320 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:133932320A>G ENST00000285928.2 + 17 2065 c.1996A>G c.(1996-1998)Ata>Gta p.I666V NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 666 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 AAGAGATTCTATACACAGACA 0.378000 14 54 0 0 1 0 0 SOX30 11063 broad.mit.edu 37 5 157078207 157078207 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:157078207C>G ENST00000265007.6 - 1 1221 c.880G>C c.(880-882)Gtg>Ctg p.V294L SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.V294L NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 294 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTAGTAGGCACTGGTGTCAGG 0.547000 19 76 0 0 1 0 0 ANAPC4 29945 broad.mit.edu 37 4 25395985 25395985 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:25395985G>C ENST00000315368.3 + 12 1072 c.930G>C c.(928-930)tgG>tgC p.W310C ANAPC4_ENST00000510092.1_Missense_Mutation_p.W310C NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 310 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) TGCTATTATGGGGGAAAGCAA 0.303000 11 27 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115405668 115405668 + Silent SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:115405668T>C ENST00000369358.4 - 11 1270 c.1026A>G c.(1024-1026)aaA>aaG p.K342K NRAP_ENST00000369360.3_Silent_p.K342K|NRAP_ENST00000359988.3_Silent_p.K342K|NRAP_ENST00000360478.3_Silent_p.K342K Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 342 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GTGCAGCGCCTTTCATCTTAT 0.458000 13 54 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50856618 50856618 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:50856618C>T ENST00000395562.2 + 10 1570 c.1101C>T c.(1099-1101)gtC>gtT p.V367V CHAT_ENST00000337653.2_Silent_p.V449V|CHAT_ENST00000395559.2_Silent_p.V331V|CHAT_ENST00000455728.2_Silent_p.V331V|CHAT_ENST00000339797.1_Silent_p.V331V|CHAT_ENST00000351556.3_Silent_p.V331V NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 449 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) ATGGCATCGTCCTGGTGCAGT 0.602000 5 8 0 0 1 0 0 C6orf106 64771 broad.mit.edu 37 6 34614531 34614531 + Nonsense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:34614531C>A ENST00000374023.3 - 3 601 c.358G>T c.(358-360)Gga>Tga p.G120* C6orf106_ENST00000374026.3_Intron|C6orf106_ENST00000374021.1_Nonsense_Mutation_p.G46* NM_024294.2 NP_077270.1 Q9H6K1 CF106_HUMAN chromosome 6 open reading frame 106 120 endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 AATTGGTCTCCCCCGACATAT 0.517000 83 105 2.00703e-41 3.35802e-41 1 1 0 USP17L2 377630 broad.mit.edu 37 8 11994828 11994828 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:11994828T>A ENST00000333796.3 - 1 1758 c.1442A>T c.(1441-1443)gAa>gTa p.E481V FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 481 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 GCTTTGCTGTTCAGGATGATG 0.512000 7 94 0 0 1 0 0 AASDH 132949 broad.mit.edu 37 4 57215643 57215643 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:57215643C>A ENST00000205214.6 - 11 2454 c.2274G>T c.(2272-2274)agG>agT p.R758S AASDH_ENST00000513376.1_Missense_Mutation_p.R658S|AASDH_ENST00000602986.1_Missense_Mutation_p.R605S|AASDH_ENST00000434343.2_Missense_Mutation_p.R273S|AASDH_ENST00000451613.1_Missense_Mutation_p.R758S|AASDH_ENST00000502617.1_Missense_Mutation_p.R758S NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 758 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) CTGACCTCCACCTCACATGTA 0.438000 38 75 6.90743e-12 9.31269e-12 1 1 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338633 13338633 + RNA SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:13338633G>A ENST00000602906.1 + 0 448 kidney(3)|lung(1) 4 TATTGGTAGGGGTACCAAAGT 0.478000 35 49 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35616947 35616947 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:35616947C>A ENST00000287272.2 + 13 2086 c.2066C>A c.(2065-2067)cCc>cAc p.P689H UNC5D_ENST00000420357.1_Missense_Mutation_p.P691H|UNC5D_ENST00000404895.2_Missense_Mutation_p.P758H|UNC5D_ENST00000416672.1_Missense_Mutation_p.P763H|UNC5D_ENST00000449677.1_Missense_Mutation_p.P334H|UNC5D_ENST00000453357.2_Missense_Mutation_p.P753H Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 758 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CTTGATATTCCCCCATTCCTC 0.448000 26 170 2.79863e-10 3.62741e-10 1 1 0 PCDHB12 56124 broad.mit.edu 37 5 140588594 140588594 + Missense_Mutation SNP T T G rs113934136 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:140588594T>G ENST00000239450.2 + 1 304 c.115T>G c.(115-117)Ttg>Gtg p.L39V PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 39 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GATGGAGGAATTGCAGAGCGG 0.517000 12 89 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31355345 31355345 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr15:31355345G>T ENST00000542188.1 - 7 1305 c.992C>A c.(991-993)gCg>gAg p.A331E TRPM1_ENST00000397795.2_Missense_Mutation_p.A292E|TRPM1_ENST00000256552.6_Missense_Mutation_p.A314E NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 292 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GTACTTGTGCGCAAAGGACAG 0.547000 15 46 3.27435e-08 3.95542e-08 1 1 0 TNR 7143 broad.mit.edu 37 1 175360538 175360538 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:175360538C>A ENST00000367674.1 - 7 2101 c.1393G>T c.(1393-1395)Gat>Tat p.D465Y TNR_ENST00000263525.2_Missense_Mutation_p.D465Y NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 465 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GACGTAACATCGCTGGGGACC 0.527000 7 26 8.12818e-05 8.8778e-05 1 1 0 PKD2 5311 broad.mit.edu 37 4 88959523 88959523 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:88959523C>T ENST00000237596.2 + 4 1030 c.964C>T c.(964-966)Cgg>Tgg p.R322W NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 322 R -> Q (in ADPKD2).|R -> W (in ADPKD2). basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) TCCACGAATACGGCAACTCCG 0.478000 33 49 0 0 1 0 0 EIF3B 8662 broad.mit.edu 37 7 2415130 2415130 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:2415130G>T ENST00000360876.4 + 14 2052 c.1996G>T c.(1996-1998)Gtc>Ttc p.V666F EIF3B_ENST00000397011.2_Missense_Mutation_p.V666F NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 666 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) TGGGCGCTACGTCGTCACCTC 0.567000 27 70 4.59853e-10 5.89705e-10 1 1 0 PPAPDC1A 196051 broad.mit.edu 37 10 122334658 122334658 + Missense_Mutation SNP T T G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:122334658T>G ENST00000398250.1 + 6 813 c.461T>G c.(460-462)cTt>cGt p.L154R PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.L144R|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.L154R|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.L91R NM_001030059.1 NP_001025230.1 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 154 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) TTTTCGGGCCTTGGCTTCACG 0.597000 6 63 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113529268 113529268 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:113529268C>G ENST00000297405.5 - 28 4995 c.4751G>C c.(4750-4752)tGt>tCt p.C1584S CSMD3_ENST00000455883.2_Missense_Mutation_p.C1480S|CSMD3_ENST00000352409.3_Missense_Mutation_p.C1584S|CSMD3_ENST00000343508.3_Missense_Mutation_p.C1544S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1584 Sushi 8. integral to membrane|plasma membrane 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 CATACCTATACAGACTGGTGG 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 23 62 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158590105 158590105 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:158590105G>A ENST00000368148.3 - 44 6452 c.6272C>T c.(6271-6273)tCc>tTc p.S2091F SPTA1_ENST00000368147.3_Missense_Mutation_p.S2088F NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2091 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CCTAGCCAGGGAGGCCAAGAA 0.493000 44 56 0 0 1 0 0 INTS4P1 285905 broad.mit.edu 37 7 64639752 64639752 + RNA SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:64639752A>T ENST00000587624.1 + 0 635 TTGATTTCCTAGTTGACATGT 0.443000 3 28 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177133768 177133768 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:177133768C>A ENST00000367654.2 - 1 58 c.45G>T c.(43-45)ggG>ggT p.G15G ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.G15G|ASTN1_ENST00000367657.3_Silent_p.G15G|ASTN1_ENST00000424564.2_Silent_p.G15G O14525 ASTN1_HUMAN astrotactin 1 15 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CCGCCGCCGGCCCCCAGCAGC 0.697000 10 10 1.76689e-08 2.15162e-08 1 1 0 KCNH7 90134 broad.mit.edu 37 2 163241264 163241264 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:163241264C>A ENST00000332142.5 - 13 2995 c.2896G>T c.(2896-2898)Gat>Tat p.D966Y NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 966 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TCTTCAAAATCGAGCCCAGAT 0.438000 68 102 1.02487e-32 1.67303e-32 1 1 0 FAM135A 57579 broad.mit.edu 37 6 71234983 71234983 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:71234983A>T ENST00000418814.2 + 15 2810 c.2196A>T c.(2194-2196)ttA>ttT p.L732F FAM135A_ENST00000361499.3_Missense_Mutation_p.L536F|FAM135A_ENST00000505868.1_Missense_Mutation_p.L732F|FAM135A_ENST00000370479.3_Missense_Mutation_p.L519F|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000457062.2_Missense_Mutation_p.L519F NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 732 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 TAACTAAATTACGAAGTAATC 0.318000 21 66 0 0 1 0 0 HNRNPF 3185 broad.mit.edu 37 10 43882805 43882805 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:43882805T>C ENST00000443950.2 - 3 1014 c.528A>G c.(526-528)atA>atG p.I176M HNRNPF_ENST00000337970.3_Missense_Mutation_p.I176M|HNRNPF_ENST00000544000.1_Missense_Mutation_p.I176M|HNRNPF_ENST00000357065.4_Missense_Mutation_p.I176M|HNRNPF_ENST00000356053.3_Missense_Mutation_p.I176M NM_001098208.1 NP_001091678.1 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 176 RRM 2. regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding p.I176M(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1) 19 ACCTGTGCCCTATCCTCTCCT 0.552000 26 73 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924844 188924844 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:188924844C>G ENST00000326866.4 + 4 1291 c.883C>G c.(883-885)Cac>Gac p.H295D ZFP42_ENST00000509524.1_Missense_Mutation_p.H295D NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 295 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) CCTGAAAGCCCACATCCTAAC 0.463000 17 24 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36897927 36897927 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:36897927C>G ENST00000301807.6 - 12 3401 c.1504G>C c.(1504-1506)Gtt>Ctt p.V502L TRANK1_ENST00000429976.2_Missense_Mutation_p.V1052L|TRANK1_ENST00000428977.2_Missense_Mutation_p.V502L NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1052 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding p.V502I(2)|p.V1052I(1) NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TCCCAGTAAACGTGGAATTTC 0.532000 8 32 0 0 1 0 0 UBE2I 7329 broad.mit.edu 37 16 1370587 1370587 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr16:1370587G>T ENST00000402301.1 + 5 518 c.482G>T c.(481-483)cGg>cTg p.R161L UBE2I_ENST00000566587.1_Intron|UBE2I_ENST00000403747.2_Intron|LA16c-358B7.3_ENST00000568106.1_RNA|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000355803.4_Intron|UBE2I_ENST00000397515.2_Intron|UBE2I_ENST00000397514.3_Intron|UBE2I_ENST00000325437.5_Intron|UBE2I_ENST00000406620.1_Intron P63279 UBC9_HUMAN ubiquitin-conjugating enzyme E2I 39 cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation cytoplasm|PML body|synaptonemal complex ATP binding|enzyme binding|ubiquitin-protein ligase activity breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 5 Hepatocellular(780;0.00369) CTGGCAGGACGGGAGTGGAGG 0.662000 4 21 1.02788e-11 1.37051e-11 1 1 0 PCDH15 65217 broad.mit.edu 37 10 55582052 55582052 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:55582052G>A ENST00000361849.3 - 34 5834 c.5440C>T c.(5440-5442)Cct>Tct p.P1814S PCDH15_ENST00000437009.1_Missense_Mutation_p.P1743S|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1789S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1809S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1772S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1812S|PCDH15_ENST00000463095.1_5'UTR NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1812 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ggaaatggaggtagaagaggt 0.507000 HNSCC(58;0.16) 3 33 0 0 1 0 0 PLK3 1263 broad.mit.edu 37 1 45269868 45269868 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:45269868T>A ENST00000372201.4 + 11 1531 c.1292T>A c.(1291-1293)gTg>gAg p.V431E PLK3_ENST00000465443.1_3'UTR NM_004073.2 NP_004064.2 Q9H4B4 PLK3_HUMAN polo-like kinase 3 431 membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) GCCACAGTAGTGGAGTCAGCC 0.562000 27 58 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128863450 128863450 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:128863450C>A ENST00000274487.4 + 5 1223 c.1078C>A c.(1078-1080)Ctt>Att p.L360I CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 360 Peptidase M12B. L -> I (in a breast cancer sample; somatic mutation). proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.L360I(2) NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GGTATTTAACCTTTTCCAACA 0.313000 27 42 3.73808e-20 5.74504e-20 1 1 0 PCDH10 57575 broad.mit.edu 37 4 134075509 134075509 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:134075509C>T ENST00000264360.4 + 2 3505 c.2679C>T c.(2677-2679)cgC>cgT p.R893R NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 893 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R893R(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ACAGACCTCGCCGAGTTAACA 0.358000 7 21 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137642728 137642728 + Splice_Site SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr9:137642728G>T ENST00000371817.3 + 13 2076 c.1662_splice c.e13+1 p.R554_splice NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 554 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGCAGGCCAGGGTGAGTACTG 0.642000 4 14 0.00024832 0.000266878 1 1 0 FAM171B 165215 broad.mit.edu 37 2 187626732 187626732 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:187626732C>T ENST00000304698.5 + 8 1866 c.1663C>T c.(1663-1665)Cat>Tat p.H555Y NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 555 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GGAACAATTACATACTGCTAA 0.443000 19 48 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2523057 2523057 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:2523057A>T ENST00000288709.6 - 23 2392 c.2152T>A c.(2152-2154)Tac>Aac p.Y718N MMEL1_ENST00000502556.1_Missense_Mutation_p.Y570N|MMEL1_ENST00000378412.3_Missense_Mutation_p.Y727N NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 727 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) TCGGGCCGGTAGGACCCGCAC 0.637000 18 57 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30133047 30133047 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr14:30133047T>C ENST00000331968.5 - 4 783 c.554A>G c.(553-555)cAt>cGt p.H185R PRKD1_ENST00000415220.2_Missense_Mutation_p.H185R NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 185 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) ACATCTCTTATGGTAATTCAG 0.378000 46 53 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41751562 41751562 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr22:41751562G>T ENST00000352645.4 + 18 2381 c.2124G>T c.(2122-2124)gaG>gaT p.E708D ZC3H7B_ENST00000351589.4_Missense_Mutation_p.E708D NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 724 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 AGGTGGTGGAGCCTGACAAGG 0.622000 16 21 3.41278e-10 4.41396e-10 1 1 0 FCGR2B 2213 broad.mit.edu 37 1 161642892 161642892 + Missense_Mutation SNP A A C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:161642892A>C ENST00000367962.4 + 4 646 c.519A>C c.(517-519)aaA>aaC p.K173N FCGR2B_ENST00000403078.3_Missense_Mutation_p.K173N|FCGR2B_ENST00000367960.5_Missense_Mutation_p.K166N|FCGR2B_ENST00000428605.2_Missense_Mutation_p.K173N|FCGR2B_ENST00000236937.9_Missense_Mutation_p.K173N|FCGR2B_ENST00000367961.4_Missense_Mutation_p.K166N|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000358671.5_Missense_Mutation_p.K173N P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) 173 Ig-like C2-type 2. immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AATCCAAGAAATTTTCCCGTT 0.498000 T ? ALL 10 70 0 0 1 0 0 FAM167A 83648 broad.mit.edu 37 8 11301839 11301839 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:11301839G>T ENST00000284486.4 - 2 620 c.82C>A c.(82-84)Cgg>Agg p.R28R FAM167A_ENST00000534308.1_Silent_p.R28R|FAM167A_ENST00000528897.1_Silent_p.R28R NM_053279.2 NP_444509.2 Q96KS9 F167A_HUMAN family with sequence similarity 167, member A 28 breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1) 9 TTCAGGCTCCGGAGGTGGTCA 0.647000 19 111 4.96729e-08 5.91764e-08 1 1 0 ASPHD2 57168 broad.mit.edu 37 22 26830398 26830398 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr22:26830398G>T ENST00000215906.5 + 2 1255 c.817G>T c.(817-819)Gtg>Ttg p.V273L NM_020437.4 NP_065170.2 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 273 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 16 GTGCATCTCTGTGCTGAGCCC 0.552000 53 56 2.0833e-19 3.16955e-19 1 1 0 PIWIL1 9271 broad.mit.edu 37 12 130831129 130831129 + Splice_Site SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:130831129G>T ENST00000245255.3 + 5 803 c.531_splice c.e5+1 p.K177_splice NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 177 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) TACAGCAAAAGGTTATTTGGG 0.413000 23 31 1.10513e-12 1.51018e-12 1 1 0 FABP12 646486 broad.mit.edu 37 8 82441685 82441685 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:82441685G>T ENST00000360464.4 - 2 296 c.234C>A c.(232-234)ggC>ggA p.G78G RP11-257P3.3_ENST00000523380.1_RNA NM_001105281.1 NP_001098751.1 A6NFH5 FBP12_HUMAN fatty acid binding protein 12 78 lipid binding|transporter activity large_intestine(1)|lung(3) 4 TTGTTTTGTGGCCACCTGGCG 0.388000 39 91 5.04308e-16 7.32216e-16 1 1 0 TNFSF10 8743 broad.mit.edu 37 3 172232740 172232740 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:172232740C>A ENST00000241261.2 - 2 303 c.181G>T c.(181-183)Gat>Tat p.D61Y TNFSF10_ENST00000420541.2_Missense_Mutation_p.D61Y NM_003810.3 NP_003801.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 61 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding p.D61N(1) breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TAACTGTCATCTTCTTTTAAG 0.418000 53 81 5.39261e-20 8.24592e-20 1 1 0 CIT 11113 broad.mit.edu 37 12 120166315 120166315 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:120166315G>A ENST00000392521.2 - 28 3638 c.3583C>T c.(3583-3585)Ctg>Ttg p.L1195L CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.L1153L NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1153 Interaction with Rho/Rac. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) ACCTCTTCCAGAAGCCTCTGT 0.443000 99 201 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28193502 28193502 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr22:28193502C>G ENST00000302326.4 - 1 3984 c.3030G>C c.(3028-3030)tgG>tgC p.W1010C NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 1010 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 CCCCCTTCCCCCAGGATGGCG 0.692000 T ETV6 """AML, meningioma""" 20 28 0 0 1 0 0 WDR20 91833 broad.mit.edu 37 14 102675783 102675783 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr14:102675783C>T ENST00000335263.5 + 3 1356 c.1276C>T c.(1276-1278)Ccg>Tcg p.P426S WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556511.2_Missense_Mutation_p.P365S|WDR20_ENST00000454394.2_Missense_Mutation_p.P457S|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Missense_Mutation_p.P365S|WDR20_ENST00000545563.1_Missense_Mutation_p.P253S|WDR20_ENST00000499851.2_Missense_Mutation_p.P169S|WDR20_ENST00000424963.2_Missense_Mutation_p.P302S|WDR20_ENST00000342702.3_Missense_Mutation_p.P426S NM_181291.2 NP_851808.1 Q8TBZ3 WDR20_HUMAN WD repeat domain 20 426 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 GAACTCTGTGCCGCCTCCTCT 0.552000 OREG0022939 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 33 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181690944 181690944 + Silent SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:181690944C>G ENST00000526775.1 + 16 2172 c.2007C>G c.(2005-2007)tcC>tcG p.S669S CACNA1E_ENST00000367570.1_Silent_p.S669S|CACNA1E_ENST00000367567.4_Silent_p.S276S|CACNA1E_ENST00000367573.2_Silent_p.S669S|CACNA1E_ENST00000358338.5_Silent_p.S620S|CACNA1E_ENST00000357570.5_Silent_p.S620S|CACNA1E_ENST00000360108.3_Silent_p.S669S NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 669 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GGATCCGCTCCCAGGGTGGGG 0.512000 22 107 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119434506 119434506 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:119434506G>C ENST00000273390.5 + 6 675 c.598G>C c.(598-600)Gtt>Ctt p.V200L MAATS1_ENST00000463700.1_Missense_Mutation_p.V200L NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 GGATGCTGACGTTCAAACAGA 0.463000 53 116 0 0 1 0 0 IGHG4 3503 broad.mit.edu 37 14 106090834 106090834 + RNA SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr14:106090834G>A ENST00000390543.2 - 0 962 GAGACAGGGAGAGGCTCTTCT 0.622000 4 78 0 0 1 0 0 KIF3A 11127 broad.mit.edu 37 5 132037881 132037881 + Missense_Mutation SNP A A C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:132037881A>C ENST00000378746.4 - 13 1919 c.1701T>G c.(1699-1701)caT>caG p.H567Q AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000487055.1_5'UTR|KIF3A_ENST00000378735.1_Missense_Mutation_p.H570Q|KIF3A_ENST00000403231.1_Missense_Mutation_p.H594Q NM_007054.5 NP_008985.3 Q9Y496 KIF3A_HUMAN kinesin family member 3A 567 blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTTCCCTCTGATGTTCTTGTT 0.393000 8 40 0 0 1 0 0 FGFR4 2264 broad.mit.edu 37 5 176522578 176522578 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:176522578C>A ENST00000292408.4 + 13 1920 c.1675C>A c.(1675-1677)Cgg>Agg p.R559R FGFR4_ENST00000393648.2_Silent_p.R491R|FGFR4_ENST00000502906.1_Silent_p.R559R|FGFR4_ENST00000393637.1_Silent_p.R519R|FGFR4_ENST00000292410.3_Silent_p.R519R NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 559 Protein kinase. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) GGGAAACCTGCGGGAGTTCCT 0.701000 TSP Lung(9;0.080) 5 14 0.0215528 0.0219526 1 1 0 OR8B12 219858 broad.mit.edu 37 11 124413323 124413323 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:124413323G>T ENST00000306842.2 - 1 252 c.228C>A c.(226-228)atC>atA p.I76I NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) TTTTGGGAGTGATGGTAGTGG 0.428000 30 60 2.65835e-16 3.87836e-16 1 1 0 MFAP3L 9848 broad.mit.edu 37 4 170912590 170912590 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:170912590G>C ENST00000361618.3 - 3 1476 c.1169C>G c.(1168-1170)gCc>gGc p.A390G MFAP3L_ENST00000393704.3_Missense_Mutation_p.A287G|RP11-6E9.4_ENST00000508955.1_RNA NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 390 integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) TGGCTCTGTGGCTTCCAGGTA 0.478000 33 62 0 0 1 0 0 ZNF33A 7581 broad.mit.edu 37 10 38343493 38343493 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:38343493G>T ENST00000374618.3 + 5 619 c.441G>T c.(439-441)atG>atT p.M147I ZNF33A_ENST00000307441.9_Missense_Mutation_p.M146I|ZNF33A_ENST00000458705.2_Missense_Mutation_p.M146I|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.M153I NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 146 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 CATGTGGAATGAGTTTCAACA 0.323000 17 58 3.52763e-06 4.02017e-06 1 1 0 TMEM159 57146 broad.mit.edu 37 16 21181851 21181851 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr16:21181851G>C ENST00000233047.4 + 3 658 c.190G>C c.(190-192)Gtt>Ctt p.V64L TMEM159_ENST00000572599.1_Missense_Mutation_p.V64L|TMEM159_ENST00000261388.3_Missense_Mutation_p.V64L|TMEM159_ENST00000451578.2_Missense_Mutation_p.V88L|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000572258.1_Missense_Mutation_p.V64L Q96B96 TM159_HUMAN transmembrane protein 159 64 integral to membrane large_intestine(3)|lung(2)|ovary(1) 6 GBM - Glioblastoma multiforme(48;0.0972) CATGTCGGCCGTTCCTGTTGG 0.537000 49 83 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1077668 1077668 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:1077668C>G ENST00000441003.2 + 3 445 c.418C>G c.(418-420)Cgc>Ggc p.R140G MUC2_ENST00000359061.5_Missense_Mutation_p.R140G NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 140 VWFD 1. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) AGTCTACTCCCGCGCCGGCCT 0.667000 5 12 0 0 1 0 0 SFSWAP 6433 broad.mit.edu 37 12 132199366 132199366 + Splice_Site SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:132199366G>T ENST00000261674.4 + 3 529 c.e3-1 SFSWAP_ENST00000541286.1_Splice_Site NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 TTTTATTCAAGAGGAAGAATA 0.373000 15 24 2.31682e-05 2.58662e-05 1 1 0 CCT6A 908 broad.mit.edu 37 7 56126391 56126391 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:56126391G>T ENST00000275603.4 + 8 1183 c.964G>T c.(964-966)Gag>Tag p.E322* CCT6A_ENST00000335503.3_Nonsense_Mutation_p.E277*|CCT6A_ENST00000540286.1_Nonsense_Mutation_p.E291* NM_001762.3 NP_001753.1 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A (zeta 1) 322 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 15 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GAGAAATATGGAGAGGTATCC 0.328000 11 39 4.3838e-07 5.09195e-07 1 1 0 RAB2A 5862 broad.mit.edu 37 8 61504476 61504476 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:61504476A>G ENST00000262646.7 + 6 773 c.422A>G c.(421-423)cAt>cGt p.H141R RAB2A_ENST00000531289.1_Missense_Mutation_p.H117R|RAB2A_ENST00000529579.1_Intron|RAB2A_ENST00000530071.1_3'UTR NM_002865.2 NP_002856.1 P61019 RAB2A_HUMAN RAB2A, member RAS oncogene family 141 ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome GDP binding|GTP binding|GTPase activity endometrium(1)|large_intestine(1)|lung(4) 6 BRCA - Breast invasive adenocarcinoma(89;0.0805) GCACGAGAACATGGACTCATC 0.348000 28 74 0 0 1 0 0 CSTL1 128817 broad.mit.edu 37 20 23420981 23420981 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr20:23420981A>G ENST00000347397.1 + 2 323 c.77A>G c.(76-78)cAa>cGa p.Q26R CSTL1_ENST00000246020.2_Missense_Mutation_p.Q26R|CSTL1_ENST00000472140.1_3'UTR NM_138283.1 NP_612140.1 Q9H114 CST1L_HUMAN cystatin-like 1 26 extracellular region cysteine-type endopeptidase inhibitor activity breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1) 14 Colorectal(13;0.0993)|Lung NSC(19;0.235) GGTCACTTCCAAAGGTGGGAG 0.507000 20 55 0 0 1 0 0 PCDHGC3 5098 broad.mit.edu 37 5 140857205 140857205 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:140857205C>A ENST00000308177.3 + 1 1626 c.1522C>A c.(1522-1524)Cgc>Agc p.R508S PCDHGA6_ENST00000517434.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTAGTGGGTCGCTATTTCAC 0.488000 11 70 3.86212e-05 4.28022e-05 1 1 0 CNTN5 53942 broad.mit.edu 37 11 99932018 99932018 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:99932018C>G ENST00000524871.1 + 10 1345 c.1055C>G c.(1054-1056)gCg>gGg p.A352G CNTN5_ENST00000528682.1_Missense_Mutation_p.A352G|CNTN5_ENST00000279463.3_Missense_Mutation_p.A352G|CNTN5_ENST00000527185.1_Missense_Mutation_p.A352G|CNTN5_ENST00000418526.2_Missense_Mutation_p.A278G NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 352 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding p.A352V(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AAATCTCAGGCGGTGCTGGAA 0.433000 8 113 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95719896 95719896 + RNA SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:95719896C>T ENST00000480546.1 - 0 1401 NR_002319.2 CTGGAGCCTGCTCGCTGAGAG 0.502000 10 49 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113170023 113170023 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr9:113170023T>C ENST00000401783.2 - 38 8193 c.7857A>G c.(7855-7857)atA>atG p.I2619M SVEP1_ENST00000374469.1_Missense_Mutation_p.I2596M|SVEP1_ENST00000297826.5_Missense_Mutation_p.I545M NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2619 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CTCCAAAATCTATATGAGGAG 0.463000 77 60 0 0 1 0 0 KLK6 5653 broad.mit.edu 37 19 51466764 51466764 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:51466764C>A ENST00000376851.3 - 4 678 c.239G>T c.(238-240)aGg>aTg p.R80M KLK6_ENST00000594641.1_Missense_Mutation_p.R80M|KLK6_ENST00000391808.1_De_novo_Start_InFrame|KLK6_ENST00000424910.2_Missense_Mutation_p.G28W|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000310157.2_Missense_Mutation_p.R80M NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 80 Peptidase S1. Cleavage; by autolysis. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) GGAACTCTCCCTTTGCCGAAG 0.582000 4 57 1.76689e-08 2.15162e-08 1 1 0 GABRG2 2566 broad.mit.edu 37 5 161520839 161520839 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:161520839C>A ENST00000356592.3 + 2 573 c.113C>A c.(112-114)aCt>aAt p.T38N GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000414552.2_Missense_Mutation_p.T38N|GABRG2_ENST00000361925.4_Missense_Mutation_p.T38N NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 38 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|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CTTAGCTTCACTAGCCAGAAA 0.363000 11 50 4.68919e-08 5.61958e-08 1 1 0 GPR149 344758 broad.mit.edu 37 3 154055960 154055960 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:154055960A>T ENST00000389740.2 - 4 1823 c.1724T>A c.(1723-1725)gTa>gAa p.V575E NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 575 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TTCTGCGCTTACCTCATAGGT 0.463000 67 124 0 0 1 0 0 SLC35F6 54978 broad.mit.edu 37 2 27001203 27001203 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:27001203G>T ENST00000344420.5 + 6 1002 c.940G>T c.(940-942)Gcc>Tcc p.A314S CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000416475.2_Missense_Mutation_p.A231S NM_017877.3 NP_060347.2 solute carrier family 35, member F6 GGGCTGGGAGGCCTTCCATGC 0.617000 30 70 2.80507e-11 3.70736e-11 1 1 0 MZT2B 80097 broad.mit.edu 37 2 130948088 130948088 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:130948088G>A ENST00000281871.6 + 3 721 c.366G>A c.(364-366)gcG>gcA p.A122A MZT2B_ENST00000409255.1_Silent_p.A182A NM_025029.3 NP_079305.2 Q6NZ67 MZT2B_HUMAN mitotic spindle organizing protein 2B 122 centrosome|gamma-tubulin ring complex|spindle protein binding lung(1) 1 TGGCCCTGGCGGAACGCAGCA 0.657000 14 20 0 0 1 0 0 OR4C46 119749 broad.mit.edu 37 11 51515674 51515674 + Missense_Mutation SNP G G T rs143619747 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:51515674G>T ENST00000328188.1 + 1 393 c.393G>T c.(391-393)atG>atT p.M131I NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 TGCACTATATGACTATCATGA 0.478000 54 113 5.08636e-23 7.97965e-23 1 1 0 PLBD2 196463 broad.mit.edu 37 12 113824843 113824843 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:113824843G>A ENST00000280800.3 + 10 1419 c.1388G>A c.(1387-1389)cGg>cAg p.R463Q PLBD2_ENST00000545182.2_Missense_Mutation_p.R431Q NM_173542.3 NP_775813.2 Q8NHP8 PLBL2_HUMAN phospholipase B domain containing 2 463 lipid catabolic process lysosomal lumen hydrolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 CAGATCTTCCGGCGGAACCAG 0.602000 13 83 0 0 1 0 0 MAEL 84944 broad.mit.edu 37 1 166961995 166961995 + Missense_Mutation SNP G G C rs113109340 byFrequency TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:166961995G>C ENST00000367872.4 + 4 642 c.398G>C c.(397-399)cGc>cCc p.R133P MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.R102P NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 133 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 TGTGAACAGCGCTTCCTCCCT 0.368000 39 61 0 0 1 0 0 TEAD2 8463 broad.mit.edu 37 19 49854623 49854623 + Splice_Site SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:49854623C>T ENST00000377214.4 - 6 899 c.e6-1 TEAD2_ENST00000311227.2_Splice_Site|TEAD2_ENST00000598397.1_Splice_Site|TEAD2_ENST00000539846.1_Splice_Site|TEAD2_ENST00000593945.1_Splice_Site|TEAD2_ENST00000601519.1_Splice_Site|TEAD2_ENST00000598810.1_Splice_Site Q15562 TEAD2_HUMAN TEA domain family member 2 hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) TGGCTTCACACTGAGGGAAAA 0.527000 4 16 0 0 1 0 0 CD40 958 broad.mit.edu 37 20 44750496 44750496 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr20:44750496A>T ENST00000372285.3 + 2 161 c.89A>T c.(88-90)cAg>cTg p.Q30L CD40_ENST00000372276.3_Missense_Mutation_p.Q30L|CD40_ENST00000489304.1_3'UTR NM_001250.4 NP_001241.1 P25942 TNR5_HUMAN CD40 molecule, TNF receptor superfamily member 5 30 B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly CD40 receptor complex|extracellular region enzyme binding|receptor activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Myeloproliferative disorder(115;0.0122) Simvastatin(DB00641) AGAGAAAAACAGTACCTAATA 0.483000 Immune Deficiency with Hyper-IgM 30 62 0 0 1 0 0 C9orf170 401535 broad.mit.edu 37 9 89763778 89763778 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr9:89763778G>A ENST00000375941.2 + 1 220 c.133G>A c.(133-135)Gcc>Acc p.A45T NM_001001709.2 NP_001001709.1 A2RU37 CI170_HUMAN chromosome 9 open reading frame 170 45 large_intestine(3)|lung(2)|prostate(1) 6 GGGAGGCCTGGCCTCCTGCTC 0.602000 14 21 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46067503 46067503 + Silent SNP A A C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:46067503A>C ENST00000295452.4 - 4 587 c.420T>G c.(418-420)gtT>gtG p.V140V NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 140 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) AAATTTTTCCAACCATATTAC 0.343000 7 51 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885901 88885901 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:88885901C>T ENST00000319675.3 - 1 395 c.299G>A c.(298-300)gGc>gAc p.G100D NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 100 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GGTGATGATGCCGTACTTGGA 0.547000 39 92 0 0 1 0 0 DVL1 1855 broad.mit.edu 37 1 1278086 1278086 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:1278086C>A ENST00000378888.5 - 2 507 c.223G>T c.(223-225)Ggc>Tgc p.G75C DVL1_ENST00000378891.5_Missense_Mutation_p.G75C O14640 DVL1_HUMAN dishevelled segment polarity protein 1 75 DIX. canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ACCACGCGGCCGTTGAAGCAG 0.657000 18 20 6.49762e-13 8.93978e-13 1 1 0 TTC12 54970 broad.mit.edu 37 11 113234603 113234603 + Silent SNP G G T rs34940277 byFrequency TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:113234603G>T ENST00000393020.1 + 20 2175 c.1770G>T c.(1768-1770)acG>acT p.T590T TTC12_ENST00000529221.1_Silent_p.T590T|TTC12_ENST00000483239.2_Silent_p.T596T|TTC12_ENST00000314756.3_Silent_p.T590T Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 590 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) CTATCTGCACGAATAGTTATC 0.388000 21 26 1.87028e-06 2.15171e-06 1 1 0 KIZ-AS1 101929591 broad.mit.edu 37 20 21195337 21195337 + RNA SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr20:21195337A>G ENST00000591761.1 - 0 119 PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000443753.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA CAAGGGAACAAGGTAACTATT 0.403000 14 32 0 0 1 0 0 SEC14L3 266629 broad.mit.edu 37 22 30860811 30860811 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr22:30860811C>A ENST00000403066.1 - 9 766 c.483G>T c.(481-483)ttG>ttT p.L161F SEC14L3_ENST00000215812.4_Missense_Mutation_p.L220F|SEC14L3_ENST00000540910.1_Missense_Mutation_p.L143F|SEC14L3_ENST00000415957.2_Missense_Mutation_p.L161F|SEC14L3_ENST00000402286.1_Missense_Mutation_p.L143F|SEC14L3_ENST00000401751.1_Missense_Mutation_p.L161F|SEC14L3_ENST00000539629.1_Missense_Mutation_p.L161F Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 220 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) ACTTACTTCCCAACACAATAA 0.468000 37 71 4.00102e-26 6.39316e-26 1 1 0 NFASC 23114 broad.mit.edu 37 1 204971852 204971852 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:204971852G>A ENST00000367172.4 + 29 3914 c.3586G>A c.(3586-3588)Gtc>Atc p.V1196I NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367170.4_Missense_Mutation_p.V1117I|NFASC_ENST00000338586.6_Missense_Mutation_p.V1073I|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000339876.6_Missense_Mutation_p.V1089I|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.V1181I|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000401399.1_Missense_Mutation_p.V1089I O94856 NFASC_HUMAN neurofascin 1196 Fibronectin type-III 5. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CAGCAGTACCGTCATCACCTT 0.557000 3 45 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55979502 55979502 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:55979502G>T ENST00000263923.4 - 7 1240 c.945C>A c.(943-945)acC>acA p.T315T NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 315 Ig-like C2-type 3. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TGTTCTTCTTGGTCATCAGCC 0.418000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 20 92 7.45023e-12 9.99986e-12 1 1 0 PER2 8864 broad.mit.edu 37 2 239164312 239164312 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:239164312T>A ENST00000254657.3 - 18 2585 c.2306A>T c.(2305-2307)cAg>cTg p.Q769L PER2_ENST00000254658.3_3'UTR NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 769 CSNK1E binding domain (By similarity). circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) TTCACTTGGCTGCCCCTTGGA 0.408000 49 157 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44856266 44856266 + Splice_Site SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr20:44856266C>T ENST00000372262.3 - 3 951 c.550_splice c.e3-1 p.G184_splice CDH22_ENST00000537909.1_Splice_Site_p.G184_splice NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 184 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CACCGACGTGCCTGGGCCCGG 0.682000 8 13 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72432719 72432719 + Splice_Site SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:72432719A>G ENST00000340595.3 + 22 3260 c.e22-1 SLC4A4_ENST00000264485.5_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site|SLC4A4_ENST00000425175.1_Splice_Site NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TTTATTTTCCAGGAGAAAGAT 0.353000 13 40 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74091115 74091115 + Silent SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr18:74091115T>A ENST00000443185.2 - 4 3272 c.2955A>T c.(2953-2955)ccA>ccT p.P985P ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 985 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) TTGCAGGAGGTGGACCCTGAG 0.662000 7 18 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38897386 38897386 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:38897386C>G ENST00000359357.3 + 73 10821 c.10567C>G c.(10567-10569)Cca>Gca p.P3523A DNAH8_ENST00000449981.2_Missense_Mutation_p.P3740A|DNAH8_ENST00000441566.1_Missense_Mutation_p.P3487A|RP1-207H1.3_ENST00000453417.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGAGCTGGATCCAGCCTTGGA 0.383000 19 83 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75186957 75186957 + Splice_Site SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:75186957C>A ENST00000336926.6 - 16 1608 c.e16+1 HIP1_ENST00000434438.2_Splice_Site NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GTCCCACTCACCTTCCGCTGG 0.592000 T PDGFRB CMML 45 137 4.44401e-20 6.81265e-20 1 1 0 CABIN1 23523 broad.mit.edu 37 22 24447324 24447324 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr22:24447324G>T ENST00000398319.2 + 8 1079 c.694G>T c.(694-696)Gag>Tag p.E232* CABIN1_ENST00000263119.5_Nonsense_Mutation_p.E232*|CABIN1_ENST00000405822.2_Intron NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 232 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GAGTGCAGCTGAGACACAGGC 0.478000 20 44 6.33239e-15 9.04199e-15 1 1 0 OR4A16 81327 broad.mit.edu 37 11 55111539 55111539 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:55111539G>C ENST00000314721.2 + 1 913 c.863G>C c.(862-864)aGa>aCa p.R288T NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 TACTCGTTGAGACAATCAGAG 0.313000 12 45 0 0 1 0 0 OSBPL5 114879 broad.mit.edu 37 11 3111787 3111787 + Splice_Site SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:3111787C>A ENST00000263650.7 - 20 2558 c.e20+1 OSBPL5_ENST00000478260.1_Splice_Site|OSBPL5_ENST00000389989.3_Splice_Site|OSBPL5_ENST00000348039.5_Splice_Site|OSBPL5_ENST00000542243.1_Splice_Site|OSBPL5_ENST00000525498.1_Splice_Site NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) AGGGGGCTCACCAGGGACAAA 0.662000 29 24 1.68575e-08 2.06531e-08 1 1 0 ZSCAN4 201516 broad.mit.edu 37 19 58187610 58187610 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:58187610G>C ENST00000318203.5 + 3 794 c.97G>C c.(97-99)Gtt>Ctt p.V33L NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 33 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGGACCTGCTGTTCAGAGAGA 0.383000 26 61 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78737817 78737817 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:78737817C>A ENST00000436010.2 - 7 2031 c.1034G>T c.(1033-1035)tGg>tTg p.W345L ROBO1_ENST00000467549.1_Missense_Mutation_p.W348L|ROBO1_ENST00000495273.1_Missense_Mutation_p.W348L|ROBO1_ENST00000464233.1_Missense_Mutation_p.W384L Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 384 Ig-like C2-type 3. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TTCTCTCCTCCAGAAAATAGC 0.408000 4 7 0.00024832 0.000266878 1 1 0 MEIS3 56917 broad.mit.edu 37 19 47912374 47912374 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:47912374C>G ENST00000331559.5 - 8 1230 c.789G>C c.(787-789)tgG>tgC p.W263C MEIS3_ENST00000561293.1_Missense_Mutation_p.W280C|MEIS3_ENST00000441740.2_Missense_Mutation_p.W263C|MEIS3_ENST00000559524.1_Missense_Mutation_p.W280C|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000558555.1_Missense_Mutation_p.W280C|MEIS3_ENST00000561096.1_Missense_Mutation_p.W368C NM_020160.2 NP_064545.1 Q99687 MEIS3_HUMAN Meis homeobox 3 280 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2) 20 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) GCTGGAACAACCAGGCTCGCA 0.592000 22 69 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145111105 145111105 + Nonsense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:145111105C>A ENST00000426825.1 - 15 2122 c.2041G>T c.(2041-2043)Gag>Tag p.E681* OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 681 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) TAGCCCAGCTCTGCCAGCAGG 0.642000 9 72 0.000673444 0.000716127 1 1 0 LAMB1 3912 broad.mit.edu 37 7 107642164 107642164 + Nonsense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:107642164G>A ENST00000393561.1 - 1 308 c.124C>T c.(124-126)Cga>Tga p.R42* LAMB1_ENST00000393560.1_Nonsense_Mutation_p.R18*|LAMB1_ENST00000222399.6_Nonsense_Mutation_p.R18* P07942 LAMB1_HUMAN laminin, beta 1 18 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCGCGCACTCGGGCTCTGCAC 0.642000 5 9 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53959230 53959230 + RNA SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:53959230G>T ENST00000454407.1 + 0 1922 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ATTCATACTGGAGAGAAACCA 0.408000 32 78 9.65021e-13 1.32471e-12 1 1 0 PRSS55 203074 broad.mit.edu 37 8 10390478 10390478 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:10390478G>C ENST00000328655.3 + 4 701 c.661G>C c.(661-663)Gag>Cag p.E221Q PRSS55_ENST00000522210.1_Missense_Mutation_p.E221Q|PRSS51_ENST00000523024.1_RNA NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 221 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 GGACTGGGAGGAGTGTTCAAA 0.478000 21 55 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769170 247769170 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:247769170G>A ENST00000320002.2 + 1 315 c.283G>A c.(283-285)Ggt>Agt p.G95S RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GATCACTTACGGTGGTTGTGT 0.473000 45 261 0 0 1 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33110700 33110700 + Silent SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr13:33110700T>C ENST00000267068.3 - 2 629 c.465A>G c.(463-465)caA>caG p.Q155Q N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000446957.2_Silent_p.Q155Q|N4BP2L2_ENST00000504114.1_Intron NM_014887.2 NP_055702.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 155 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) GTTTCTCTTTTTGTCCTCCTC 0.338000 52 60 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78452838 78452838 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:78452838C>T ENST00000397909.2 + 12 2752 c.2579C>T c.(2578-2580)gCa>gTa p.A860V RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000536525.2_Missense_Mutation_p.A860V|NAV3_ENST00000228327.6_Missense_Mutation_p.A860V|NAV3_ENST00000266692.7_Missense_Mutation_p.A860V Q8IVL0 NAV3_HUMAN neuron navigator 3 860 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CCAGACACAGCAACTTCCCGG 0.413000 HNSCC(70;0.22) 26 57 0 0 1 0 0 DUSP26 78986 broad.mit.edu 37 8 33449548 33449548 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:33449548G>T ENST00000256261.4 - 4 1136 c.619C>A c.(619-621)Cag>Aag p.Q207K DUSP26_ENST00000523956.1_Missense_Mutation_p.Q207K NM_024025.1 NP_076930.1 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 (putative) 207 Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) TCCAGACCCTGCCGCAGCCTG 0.657000 6 32 2.0095e-06 2.30748e-06 1 1 0 ADAM32 203102 broad.mit.edu 37 8 39103643 39103643 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:39103643G>A ENST00000379907.4 + 17 1987 c.1860G>A c.(1858-1860)aaG>aaA p.K620K ADAM32_ENST00000519315.1_Silent_p.K514K|ADAM32_ENST00000437682.2_Silent_p.K521K NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 620 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) GGATAATTAAGGCTTCAGCAC 0.373000 10 65 0 0 1 0 0 ZNF233 353355 broad.mit.edu 37 19 44778629 44778629 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:44778629T>A ENST00000391958.2 + 5 1943 c.1816T>A c.(1816-1818)Tat>Aat p.Y606N ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.Y588N NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 606 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) CTGGAACTCATATCTTCATGT 0.443000 47 100 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13230969 13230969 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:13230969G>T ENST00000378694.1 + 9 1379 c.1304G>T c.(1303-1305)gGa>gTa p.G435V MCM10_ENST00000378714.3_Missense_Mutation_p.G435V|MCM10_ENST00000484800.2_Missense_Mutation_p.G436V Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 436 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 ACCTTCTCTGGAGGACGAATT 0.532000 24 63 1.64293e-13 2.29176e-13 1 1 0 GPR83 10888 broad.mit.edu 37 11 94113874 94113874 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:94113874T>A ENST00000243673.2 - 4 884 c.713A>T c.(712-714)tAc>tTc p.Y238F GPR83_ENST00000539203.2_Missense_Mutation_p.Y196F NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 238 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CAAGTCCAGGTACTTCCAGAA 0.577000 11 46 0 0 1 0 0 CAPN15 6650 broad.mit.edu 37 16 601625 601625 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr16:601625G>A ENST00000219611.2 + 9 2669 c.2306G>A c.(2305-2307)aGt>aAt p.S769N LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 CACGGCAGCAGTGAGGGTGTC 0.682000 31 43 0 0 1 0 0 EGLN2 112398 broad.mit.edu 37 19 41307019 41307019 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:41307019A>G ENST00000593726.1 + 1 1570 c.542A>G c.(541-543)tAt>tGt p.Y181C RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000303961.4_Missense_Mutation_p.Y181C|EGLN2_ENST00000406058.2_Missense_Mutation_p.Y181C Q96KS0 EGLN2_HUMAN egl-9 family hypoxia-inducible factor 2 181 cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia cytoplasm|nucleus ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Vitamin C(DB00126) GCCCTGGACTATATCGTGCCC 0.672000 41 91 0 0 1 0 0 BANF1 8815 broad.mit.edu 37 11 65770766 65770766 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:65770766G>T ENST00000312175.2 + 2 553 c.45G>T c.(43-45)atG>atT p.M15I BANF1_ENST00000527348.1_Missense_Mutation_p.M15I|BANF1_ENST00000533166.1_Missense_Mutation_p.M15I|BANF1_ENST00000524628.1_Intron|BANF1_ENST00000445560.2_Missense_Mutation_p.M15I NM_001143985.1|NM_003860.3 NP_001137457.1|NP_003851.1 O75531 BAF_HUMAN barrier to autointegration factor 1 15 initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus chromosome|cytosol|nucleoplasm DNA binding large_intestine(2)|prostate(1) 3 CAGAGCCCATGGGGGAGAAGC 0.547000 12 27 2.80697e-09 3.51017e-09 1 1 0 NTNG2 84628 broad.mit.edu 37 9 135042385 135042385 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr9:135042385C>T ENST00000393229.3 + 2 943 c.167C>T c.(166-168)cCc>cTc p.P56L NTNG2_ENST00000360670.3_Missense_Mutation_p.P56L|NTNG2_ENST00000393228.4_Missense_Mutation_p.P56L|NTNG2_ENST00000372179.3_Missense_Mutation_p.P56L NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 56 Laminin N-terminal. axonogenesis anchored to plasma membrane central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) AAGGTGGAGCCCTCAGGCATC 0.582000 29 42 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62845321 62845321 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:62845321C>A ENST00000512091.1 + 17 3389 c.2642C>A c.(2641-2643)aCg>aAg p.T881K LPHN3_ENST00000504896.1_Missense_Mutation_p.T881K|LPHN3_ENST00000506700.1_Missense_Mutation_p.T881K|LPHN3_ENST00000506720.1_Missense_Mutation_p.T949K|LPHN3_ENST00000507164.1_Missense_Mutation_p.T949K|LPHN3_ENST00000514591.1_Missense_Mutation_p.T881K|LPHN3_ENST00000545650.1_Missense_Mutation_p.T881K|LPHN3_ENST00000509896.1_Missense_Mutation_p.T949K|LPHN3_ENST00000514996.1_Missense_Mutation_p.T881K|LPHN3_ENST00000507625.1_Missense_Mutation_p.T949K|LPHN3_ENST00000511324.1_Missense_Mutation_p.T949K|LPHN3_ENST00000514157.1_Missense_Mutation_p.T881K|LPHN3_ENST00000506746.1_Missense_Mutation_p.T949K|LPHN3_ENST00000508946.1_Missense_Mutation_p.T881K|LPHN3_ENST00000508693.1_Missense_Mutation_p.T949K Q9HAR2 LPHN3_HUMAN latrophilin 3 868 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.T881M(3) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GATGTGATCACGTGGGTTGGA 0.448000 74 133 7.62465e-47 1.29e-46 1 1 0 PTPN13 5783 broad.mit.edu 37 4 87692376 87692376 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:87692376C>G ENST00000436978.1 + 31 5351 c.4871C>G c.(4870-4872)tCt>tGt p.S1624C PTPN13_ENST00000316707.6_Missense_Mutation_p.S1428C|PTPN13_ENST00000411767.2_Missense_Mutation_p.S1619C|PTPN13_ENST00000511467.1_Missense_Mutation_p.S1624C|PTPN13_ENST00000427191.2_Missense_Mutation_p.S1600C NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1619 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) AAAGACTCTTCTCAGCCATCA 0.413000 4 10 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78350072 78350072 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:78350072T>C ENST00000255189.3 - 4 503 c.475A>G c.(475-477)Aca>Gca p.T159A DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 159 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TACTGTTCTGTTGCATGCCAG 0.398000 31 50 0 0 1 0 0 SPANXD 64648 broad.mit.edu 37 X 140785627 140785627 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chrX:140785627T>C ENST00000370515.3 - 2 622 c.289A>G c.(289-291)Aag>Gag p.K97E NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 SPANX family, member D breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) TCTTGCTACTTTGCAGGTATT 0.458000 73 39 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15291539 15291539 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:15291539A>G ENST00000263388.2 - 19 3170 c.3095T>C c.(3094-3096)cTc>cCc p.L1032P NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1032 EGF-like 26. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GATGTCACAGAGGCGTCCGCT 0.657000 3 1 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48575090 48575090 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr18:48575090A>G ENST00000342988.3 + 3 822 c.284A>G c.(283-285)tAt>tGt p.Y95C RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Missense_Mutation_p.Y95C|SMAD4_ENST00000398417.2_Missense_Mutation_p.Y95C|SMAD4_ENST00000588745.1_Missense_Mutation_p.Y95C NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 95 MH1. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(4)|p.Y95S(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CATGTGATCTATGCCCGTCTC 0.368000 26 16 0 0 1 0 0 SEC14L3 266629 broad.mit.edu 37 22 30860810 30860810 + Nonsense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr22:30860810C>A ENST00000403066.1 - 9 767 c.484G>T c.(484-486)Gga>Tga p.G162* SEC14L3_ENST00000215812.4_Nonsense_Mutation_p.G221*|SEC14L3_ENST00000540910.1_Nonsense_Mutation_p.G144*|SEC14L3_ENST00000415957.2_Nonsense_Mutation_p.G162*|SEC14L3_ENST00000402286.1_Nonsense_Mutation_p.G144*|SEC14L3_ENST00000401751.1_Nonsense_Mutation_p.G162*|SEC14L3_ENST00000539629.1_Nonsense_Mutation_p.G162* Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 221 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) TACTTACTTCCCAACACAATA 0.468000 37 71 4.00102e-26 6.39316e-26 1 1 0 PRSS48 345062 broad.mit.edu 37 4 152212286 152212286 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:152212286C>A ENST00000455694.2 + 5 670 c.668C>A c.(667-669)cCt>cAt p.P223H SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.P80H NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 223 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 TCTGGAGGGCCTCTGTCGTGT 0.418000 8 41 0.000157383 0.000170053 1 1 0 DLGAP3 58512 broad.mit.edu 37 1 35365814 35365814 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:35365814G>A ENST00000373347.1 - 4 1436 c.1168C>T c.(1168-1170)Cgc>Tgc p.R390C DLGAP3_ENST00000235180.4_Missense_Mutation_p.R390C O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 390 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) CGCATCCTGCGGCAGGGGATC 0.627000 39 90 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885745 88885745 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:88885745G>T ENST00000319675.3 - 1 551 c.455C>A c.(454-456)aCt>aAt p.T152N NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 152 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 ACAGCTTGGAGTATCTGCAAG 0.552000 32 68 1.13719e-10 1.48994e-10 1 1 0 DMBT1 1755 broad.mit.edu 37 10 124350194 124350194 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:124350194G>T ENST00000338354.3 + 18 2227 c.2121G>T c.(2119-2121)cgG>cgT p.R707R DMBT1_ENST00000368955.3_Silent_p.R697R|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Silent_p.R697R|DMBT1_ENST00000368909.3_Silent_p.R707R|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 707 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCCAGTCCCGGTCGACGCCCA 0.517000 39 261 5.20837e-25 8.27857e-25 1 1 0 CNTN5 53942 broad.mit.edu 37 11 99872827 99872827 + Silent SNP T T G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:99872827T>G ENST00000524871.1 + 9 1229 c.939T>G c.(937-939)gcT>gcG p.A313A CNTN5_ENST00000528682.1_Silent_p.A313A|CNTN5_ENST00000279463.3_Silent_p.A313A|CNTN5_ENST00000527185.1_Silent_p.A313A|CNTN5_ENST00000418526.2_Silent_p.A239A NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 313 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TTACAGCTGCTAAAGGAACAA 0.338000 4 6 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248309335 248309335 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:248309335G>A ENST00000366476.1 + 1 886 c.886G>A c.(886-888)Gag>Aag p.E296K NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CCGCAACAAGGAGGTGACCAG 0.473000 54 53 0 0 1 0 0 SCAPER 49855 broad.mit.edu 37 15 76763649 76763649 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr15:76763649G>A ENST00000538941.2 - 25 3183 c.2244C>T c.(2242-2244)taC>taT p.Y748Y SCAPER_ENST00000563290.1_Silent_p.Y994Y|SCAPER_ENST00000324767.7_Silent_p.Y994Y NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 993 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 AGGTGAGGTTGTAAACATTGA 0.353000 6 19 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104924380 104924380 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:104924380G>C ENST00000507740.1 + 4 1452 c.1216G>C c.(1216-1218)Gga>Cga p.G406R RIMS2_ENST00000262231.10_Missense_Mutation_p.G453R|RIMS2_ENST00000406091.3_Missense_Mutation_p.G598R|RIMS2_ENST00000436393.2_Missense_Mutation_p.G376R NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 676 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TCGAGATTCAGGAGCAATGCT 0.378000 HNSCC(12;0.0054) 24 66 0 0 1 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962511 69962511 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:69962511G>T ENST00000305231.7 + 1 319 c.273G>T c.(271-273)atG>atT p.M91I UGT2B7_ENST00000508661.1_Missense_Mutation_p.M91I|UGT2B7_ENST00000509763.1_Intron NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 91 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ATTTCATCATGCAACAGATTA 0.333000 11 50 0.00829132 0.00861955 1 1 0 TPK1 27010 broad.mit.edu 37 7 144364850 144364850 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:144364850C>A ENST00000538212.2 - 3 209 c.139G>T c.(139-141)Ggt>Tgt p.G47C TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000360057.3_Intron Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 0 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) ttgccaagacccttggaagct 0.463000 15 25 1.5739e-10 2.05765e-10 1 1 0 DRD5 1816 broad.mit.edu 37 4 9784199 9784199 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:9784199G>T ENST00000304374.2 + 1 942 c.546G>T c.(544-546)agG>agT p.R182S NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 182 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) ACTGGCACAGGGACCAGGCGG 0.617000 18 49 1.33834e-09 1.68407e-09 1 1 0 TRPS1 7227 broad.mit.edu 37 8 116616668 116616668 + Nonsense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:116616668T>A ENST00000395715.3 - 4 2105 c.1528A>T c.(1528-1530)Aag>Tag p.K510* TRPS1_ENST00000519674.1_Nonsense_Mutation_p.K497*|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Nonsense_Mutation_p.K501*|TRPS1_ENST00000220888.5_Nonsense_Mutation_p.K497* NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 497 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TTGTCTGTCTTGGTCATTGTC 0.448000 Langer-Giedion syndrome 49 99 0 0 1 0 0 ZNF763 284390 broad.mit.edu 37 19 12089450 12089450 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:12089450T>A ENST00000343949.5 + 4 875 c.720T>A c.(718-720)ttT>ttA p.F240L ZNF763_ENST00000590798.1_Missense_Mutation_p.F257L|ZNF763_ENST00000538752.1_Missense_Mutation_p.F257L|ZNF763_ENST00000545530.1_Missense_Mutation_p.F115L|ZNF763_ENST00000358987.3_Missense_Mutation_p.F237L NM_001012753.1 NP_001012771.1 zinc finger protein 763 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9) 15 TTAAATCCTTTAGTTATTCTG 0.378000 27 31 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40080634 40080634 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr20:40080634C>T ENST00000373233.3 - 22 3532 c.3355G>A c.(3355-3357)Ggc>Agc p.G1119S CHD6_ENST00000309279.7_Missense_Mutation_p.G602S NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1119 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TTGAATCGGCCATGAGTCAGG 0.552000 18 37 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45353208 45353208 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:45353208C>A ENST00000303230.4 - 5 1428 c.1371G>T c.(1369-1371)ctG>ctT p.L457L NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 457 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.L457L(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TTACCTCTCTCAGAGGATCAT 0.343000 11 89 4.68919e-08 5.61958e-08 1 1 0 RND1 27289 broad.mit.edu 37 12 49255801 49255801 + Silent SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:49255801T>A ENST00000309739.5 - 3 439 c.309A>T c.(307-309)gcA>gcT p.A103A NM_014470.3 NP_055285.1 Q92730 RND1_HUMAN Rho family GTPase 1 103 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1) 10 CCTTCTTGAGTGCGCTGTCCA 0.468000 20 31 0 0 1 0 0 CRX 1406 broad.mit.edu 37 19 48339650 48339650 + Splice_Site SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:48339650A>T ENST00000221996.7 + 3 457 c.252_splice c.e3+1 p.Q84_splice TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Splice_Site_p.Q84_splice NM_000554.4 NP_000545.1 O43186 CRX_HUMAN cone-rod homeobox 84 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) TCCAGGGTTCAGGTGGGGTGG 0.597000 19 33 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27537122 27537122 + RNA SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:27537122C>T ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA CCATTGCTGTCTGAGGCTGCC 0.473000 37 92 0 0 1 0 0 ZKSCAN8 7745 broad.mit.edu 37 6 28116464 28116464 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:28116464G>T ENST00000330236.6 + 2 463 c.279G>T c.(277-279)ctG>ctT p.L93L ZKSCAN8_ENST00000457389.2_Silent_p.L93L NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2 NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2 zinc finger with KRAB and SCAN domains 8 TCCTGGAGCTGCTGGTGCTGG 0.542000 28 35 2.79863e-10 3.62741e-10 1 1 0 TOP2B 7155 broad.mit.edu 37 3 25640955 25640955 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:25640955C>A ENST00000435706.2 - 35 4867 c.4666G>T c.(4666-4668)Ggc>Tgc p.G1556C TOP2B_ENST00000540199.1_Missense_Mutation_p.G413C|TOP2B_ENST00000542520.1_Missense_Mutation_p.G413C|TOP2B_ENST00000264331.4_Missense_Mutation_p.G1561C Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 1561 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 GTTTTCCTGCCAGGGTTATAA 0.393000 8 18 0.00621372 0.00647084 1 1 0 PASD1 139135 broad.mit.edu 37 X 150832662 150832662 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chrX:150832662G>A ENST00000370357.4 + 11 1158 c.913G>A c.(913-915)Gag>Aag p.E305K NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 305 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) AGTGGACCTGGAGTTCTCGGT 0.577000 42 18 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77406722 77406722 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr15:77406722C>G ENST00000560626.2 - 7 5492 c.5017G>C c.(5017-5019)Gat>Cat p.D1673H PEAK1_ENST00000312493.4_Missense_Mutation_p.D1673H Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1673 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding TGGAAGAGATCTTCGCGGGGG 0.562000 32 57 0 0 1 0 0 UPK1B 7348 broad.mit.edu 37 3 118905627 118905627 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:118905627C>A ENST00000264234.3 + 2 188 c.39C>A c.(37-39)ggC>ggA p.G13G RP11-484M3.5_ENST00000490594.1_Intron|UPK1B_ENST00000497685.1_Intron|UPK1B_ENST00000460625.1_Silent_p.G13G NM_006952.3 NP_008883.2 O75841 UPK1B_HUMAN uroplakin 1B 13 epithelial cell differentiation integral to membrane structural molecule activity breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 14 GBM - Glioblastoma multiforme(114;0.222) GCTTCCAGGGCCTGCTGATTT 0.383000 26 49 4.7796e-09 5.94008e-09 1 1 0 ZNF516 9658 broad.mit.edu 37 18 74091117 74091117 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr18:74091117G>A ENST00000443185.2 - 4 3270 c.2953C>T c.(2953-2955)Cca>Tca p.P985S ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 985 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GCAGGAGGTGGACCCTGAGGC 0.657000 7 20 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138978706 138978706 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:138978706C>T ENST00000288561.8 + 17 3973 c.3724C>T c.(3724-3726)Cac>Tac p.H1242Y UBN2_ENST00000473989.2_Missense_Mutation_p.H1325Y NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 1325 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 TCTGCCTGCACACTTACAGCA 0.433000 27 38 0 0 1 0 0 UPK3A 7380 broad.mit.edu 37 22 45689186 45689186 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr22:45689186C>A ENST00000216211.4 + 5 728 c.696C>A c.(694-696)ctC>ctA p.L232L UPK3A_ENST00000396082.2_Silent_p.L111L NM_006953.3 NP_008884.1 O75631 UPK3A_HUMAN uroplakin 3A 232 epithelial cell differentiation endoplasmic reticulum membrane|integral to membrane kidney(1)|large_intestine(1)|lung(2)|skin(1) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CCATTGCCCTCAGCCTCGTGT 0.627000 7 49 0.00448238 0.00470027 1 1 0 PRDM9 56979 broad.mit.edu 37 5 23524578 23524578 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:23524578C>A ENST00000296682.3 + 10 1268 c.1086C>A c.(1084-1086)ggC>ggA p.G362G NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 362 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 ATGAATACGGCCAGGAACTGG 0.512000 HNSCC(3;0.000094) 33 61 2.42023e-17 3.60943e-17 1 1 0 CYP26A1 1592 broad.mit.edu 37 10 94834545 94834545 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:94834545C>A ENST00000371531.1 + 3 595 c.217C>A c.(217-219)Cgg>Agg p.R73R CYP26A1_ENST00000394139.1_Silent_p.R73R|CYP26A1_ENST00000224356.4_Silent_p.R142R NM_057157.2 NP_476498.1 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, polypeptide 1 142 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Colorectal(252;0.122) GGTGATTATGCGGGCCTTCAG 0.657000 7 19 8.12818e-05 8.8778e-05 1 1 0 PCDHA1 56147 broad.mit.edu 37 5 140166533 140166533 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:140166533C>G ENST00000504120.2 + 1 658 c.658C>G c.(658-660)Ccg>Gcg p.P220A PCDHA1_ENST00000378133.3_Missense_Mutation_p.P220A|PCDHA1_ENST00000394633.3_Missense_Mutation_p.P220A NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGGGCAAACCGGAGCTGCA 0.453000 34 64 0 0 1 0 0 CTAGE1 64693 broad.mit.edu 37 18 19996076 19996076 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr18:19996076G>A ENST00000391403.2 - 1 1802 c.1699C>T c.(1699-1701)Ccg>Tcg p.P567S NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 567 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) TGTTCCCACGGAGGTGCCAGG 0.488000 165 50 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237942060 237942060 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:237942060A>T ENST00000366574.2 + 88 12187 c.11870A>T c.(11869-11871)aAg>aTg p.K3957M RYR2_ENST00000542537.1_Missense_Mutation_p.K3941M|RYR2_ENST00000360064.6_Missense_Mutation_p.K3963M NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3957 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATGCAGATGAAGCTGTCGCAG 0.448000 17 31 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115963186 115963186 + Missense_Mutation SNP G G T rs138005760 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:115963186G>T ENST00000251864.2 + 8 994 c.841G>T c.(841-843)Gtg>Ttg p.V281L TDRD1_ENST00000369281.2_Missense_Mutation_p.V281L|TDRD1_ENST00000369282.1_Missense_Mutation_p.V281L|TDRD1_ENST00000369280.1_Missense_Mutation_p.V281L|TDRD1_ENST00000422662.1_5'UTR NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 281 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GGACTTCTACGTGCAGTTATA 0.348000 12 55 0.00010058 0.000109263 1 1 0 ZNF648 127665 broad.mit.edu 37 1 182026493 182026493 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:182026493C>A ENST00000339948.3 - 2 860 c.653G>T c.(652-654)aGc>aTc p.S218I NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 GGCAGCCAGGCTGGCTGGGGT 0.667000 12 13 5.16669e-11 6.81371e-11 1 1 0 DEFA5 1670 broad.mit.edu 37 8 6914088 6914088 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:6914088G>T ENST00000330590.2 - 1 168 c.132C>A c.(130-132)atC>atA p.I44I NM_021010.1 NP_066290.1 Q01523 DEF5_HUMAN defensin, alpha 5, Paneth cell-specific 44 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space NS(1)|lung(4)|skin(1)|stomach(1) 7 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CTGCAAAGGAGATAGCAAGGT 0.498000 27 104 2.79863e-10 3.62741e-10 1 1 0 OR2A2 442361 broad.mit.edu 37 7 143807143 143807143 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:143807143G>T ENST00000408979.2 + 1 537 c.468G>T c.(466-468)ctG>ctT p.L156L NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) CCCTGTCCCTGGTACATGAAA 0.542000 41 41 3.38236e-24 5.36206e-24 1 1 0 OR2L8 391190 broad.mit.edu 37 1 248113083 248113083 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:248113083C>T ENST00000357191.3 + 1 924 c.924C>T c.(922-924)tgC>tgT p.C308C OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) AGAGAATCTGCTCTGTGAAAA 0.448000 7 73 0 0 1 0 0 SLFN12L 100506736 broad.mit.edu 37 17 33806361 33806361 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr17:33806361G>T ENST00000260908.7 - 2 985 c.868C>A c.(868-870)Cct>Act p.P290T SLFN12L_ENST00000361112.4_Missense_Mutation_p.P319T|SLFN12L_ENST00000449046.1_Missense_Mutation_p.P321T NM_001195790.1 NP_001182719.1 Q6IEE8 SN12L_HUMAN schlafen family member 12-like 322 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 TGATGCACAGGCAGTTTCCCA 0.363000 9 5 1.12685e-05 1.26744e-05 1 1 0 BTD 686 broad.mit.edu 37 3 15686094 15686094 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:15686094C>T ENST00000383778.4 + 4 1029 c.671C>T c.(670-672)aCa>aTa p.T224I BTD_ENST00000449107.1_Missense_Mutation_p.T246I|BTD_ENST00000437172.1_Missense_Mutation_p.T246I|BTD_ENST00000303498.5_Missense_Mutation_p.T244I P43251 BTD_HUMAN biotinidase 244 CN hydrolase. central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 18 GGCATCTTCACATGCTTTGAT 0.468000 45 71 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225729344 225729344 + Nonsense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:225729344T>A ENST00000409592.3 - 13 1623 c.1510A>T c.(1510-1512)Aaa>Taa p.K504* DOCK10_ENST00000258390.7_Nonsense_Mutation_p.K510* Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 510 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TTTTCGATTTTGGCCACCAAA 0.363000 19 34 0 0 1 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100492147 100492147 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:100492147C>A ENST00000279907.7 - 5 723 c.511G>T c.(511-513)Gat>Tat p.D171Y UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.D171Y NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 171 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 CTCTGTGGATCCTGAATACGA 0.348000 32 64 1.61788e-16 2.3661e-16 1 1 0 C3AR1 719 broad.mit.edu 37 12 8211766 8211766 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:8211766G>C ENST00000307637.4 - 2 1219 c.1016C>G c.(1015-1017)aCt>aGt p.T339S NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 339 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) CACTAGCCTAGTGATCGTTAT 0.488000 5 144 0 0 1 0 0 HRG 3273 broad.mit.edu 37 3 186389478 186389478 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:186389478G>A ENST00000232003.4 + 4 538 c.458G>A c.(457-459)cGc>cAc p.R153H NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 153 Cystatin 2. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) GATACTGAGCGCTACAGAAAA 0.453000 33 30 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133760658 133760658 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr9:133760658G>T ENST00000318560.5 + 11 3362 c.2981G>T c.(2980-2982)gGg>gTg p.G994V NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 994 F-actin-binding.|Pro-rich. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GCCCTGGCAGGGGACCAGCCG 0.667000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 18 75 1.99824e-07 2.32999e-07 1 1 0 OR51D1 390038 broad.mit.edu 37 11 4661210 4661210 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:4661210G>A ENST00000357605.2 + 1 266 c.190G>A c.(190-192)Gtg>Atg p.V64M NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CATCATTCGTGTGGAGAGGCG 0.532000 22 83 0 0 1 0 0 AGFG2 3268 broad.mit.edu 37 7 100151103 100151103 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:100151103G>T ENST00000300176.4 + 4 687 c.565G>T c.(565-567)Gct>Tct p.A189S AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_Intron NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 189 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TCTCTCAGTTGCTGCCTCCAC 0.547000 23 60 1.10513e-12 1.51018e-12 1 1 0 XPO1 7514 broad.mit.edu 37 2 61721088 61721088 + Nonsense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:61721088C>A ENST00000401558.2 - 12 1913 c.1186G>T c.(1186-1188)Gga>Tga p.G396* XPO1_ENST00000406957.1_Nonsense_Mutation_p.G396*|XPO1_ENST00000404992.2_Nonsense_Mutation_p.G396* NM_003400.3 NP_003391.1 O14980 XPO1_HUMAN exportin 1 (CRM1 homolog, yeast) 396 Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export. intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) TGTTGACTTCCAGAAAGCAAC 0.408000 Mis CLL 64 117 1.72039e-30 2.78583e-30 1 1 0 CARD18 59082 broad.mit.edu 37 11 105009794 105009794 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:105009794G>A ENST00000530950.1 - 2 18 c.19C>T c.(19-21)Cgt>Tgt p.R7C CARD18_ENST00000526823.1_5'UTR|CARD18_ENST00000532895.1_5'UTR NM_021571.3 NP_067546.1 P57730 CAR18_HUMAN caspase recruitment domain family, member 18 7 CARD. inflammatory response|regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity central_nervous_system(1)|ovary(1) 2 CTCTTTTTACGCAAGAGTTGG 0.373000 16 54 0 0 1 0 0 PER2 8864 broad.mit.edu 37 2 239185819 239185819 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:239185819G>T ENST00000254657.3 - 3 525 c.246C>A c.(244-246)agC>agA p.S82R PER2_ENST00000355768.2_Missense_Mutation_p.S82R|PER2_ENST00000440245.1_Missense_Mutation_p.S82R|PER2_ENST00000254658.3_Missense_Mutation_p.S82R NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 82 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CCATCATCAGGCTAAAGGTAT 0.383000 79 172 2.51111e-31 4.08816e-31 1 1 0 LRRC57 255252 broad.mit.edu 37 15 42839596 42839596 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr15:42839596G>C ENST00000323443.2 - 3 722 c.355C>G c.(355-357)Caa>Gaa p.Q119E LRRC57_ENST00000563454.1_Missense_Mutation_p.Q119E|LRRC57_ENST00000397130.3_Missense_Mutation_p.Q119E Q8N9N7 LRC57_HUMAN leucine rich repeat containing 57 119 breast(1)|kidney(1)|lung(5)|prostate(1) 8 all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262) GBM - Glioblastoma multiforme(94;6.87e-07) GCTCCCAGTTGGTTCCCAGAG 0.502000 24 29 0 0 1 0 0 DAZAP1 26528 broad.mit.edu 37 19 1430307 1430307 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:1430307G>A ENST00000336761.6 + 10 1022 c.817G>A c.(817-819)Ggc>Agc p.G273S DAZAP1_ENST00000233078.4_Missense_Mutation_p.G273S NM_170711.1 NP_733829.1 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 273 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCTCCTGGAGGCTTTCCCCC 0.672000 11 5 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45566354 45566354 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr18:45566354C>A ENST00000588982.1 - 3 1626 c.1125G>T c.(1123-1125)ggG>ggT p.G375G ZBTB7C_ENST00000535628.2_Silent_p.G375G|ZBTB7C_ENST00000586438.1_Silent_p.G375G|ZBTB7C_ENST00000332053.2_Silent_p.G375G|ZBTB7C_ENST00000590800.1_Silent_p.G375G A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 375 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GCTTCCCGGCCCCCATGATGA 0.637000 31 38 4.3181e-19 6.52033e-19 1 1 0 TAAR9 134860 broad.mit.edu 37 6 132859982 132859982 + RNA SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:132859982C>A ENST00000434551.1 + 0 554 NM_175057.3 NP_778227.3 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 (gene/pseudogene) plasma membrane G-protein coupled receptor activity Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) GTTGCTCTAACCTGTGTAGGA 0.418000 75 45 1.7488e-33 2.86253e-33 1 1 0 FBXO32 114907 broad.mit.edu 37 8 124546959 124546959 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:124546959C>T ENST00000517956.1 - 2 403 c.212G>A c.(211-213)aGc>aAc p.S71N FBXO32_ENST00000443022.2_Missense_Mutation_p.S71N NM_058229.3|NM_148177.2 NP_478136.1|NP_680482.1 Q969P5 FBX32_HUMAN F-box protein 32 71 p.S71T(1) autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1) 21 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TTTGGTTTTGCTATTCAGCAT 0.358000 15 57 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814834 106814834 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:106814834C>A ENST00000407775.2 + 8 2774 c.2524C>A c.(2524-2526)Cgg>Agg p.R842R RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.R710R|ZFPM2_ENST00000517361.1_Silent_p.R710R|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.R573R NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 842 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TCAGTCTGAGCGGACGACCAC 0.463000 7 16 1 1 1 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144892528 144892528 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:144892528C>T ENST00000369359.4 - 25 3326 c.3288G>A c.(3286-3288)gaG>gaA p.E1096E PDE4DIP_ENST00000369356.4_Silent_p.E959E|PDE4DIP_ENST00000530740.1_Silent_p.E1096E|PDE4DIP_ENST00000369349.3_Silent_p.E959E|PDE4DIP_ENST00000369351.3_Silent_p.E959E|PDE4DIP_ENST00000369354.3_Silent_p.E959E|PDE4DIP_ENST00000313431.9_Silent_p.E1122E|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.E1025E Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 959 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTGCAGCCTCCTCCTCAATAC 0.517000 T PDGFRB MPD 22 133 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21467011 21467011 + Silent SNP G G A rs143903868 byFrequency TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:21467011G>A ENST00000281523.2 - 6 1343 c.825C>T c.(823-825)caC>caT p.H275H NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 275 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 CCGAGTTGACGTGCACATCAC 0.433000 16 67 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168114087 168114087 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:168114087A>G ENST00000519560.1 - 30 3630 c.3211T>C c.(3211-3213)Tgt>Cgt p.C1071R SLIT3_ENST00000404867.3_Missense_Mutation_p.C1071R|SLIT3_ENST00000332966.8_Missense_Mutation_p.C1078R NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1071 EGF-like 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTGTCTCACAGAGCTTCCCG 0.597000 9 27 0 0 1 0 0 GPNMB 10457 broad.mit.edu 37 7 23309710 23309710 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:23309710T>C ENST00000258733.4 + 9 1640 c.1345T>C c.(1345-1347)Tct>Cct p.S449P GPNMB_ENST00000539136.1_Missense_Mutation_p.S350P|GPNMB_ENST00000453162.2_Missense_Mutation_p.S403P|GPNMB_ENST00000381990.2_Missense_Mutation_p.S461P Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 461 negative regulation of cell proliferation melanosome breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) CTTCAATGGGTCTGGGACGTA 0.527000 4 82 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28360587 28360587 + Silent SNP C C T rs142882696 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr15:28360587C>T ENST00000261609.7 - 89 13818 c.13710G>A c.(13708-13710)gcG>gcA p.A4570A NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4570 HECT. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CACTGAGGTCCGCGATGGTGA 0.627000 4 20 0 0 1 0 0 SVOP 55530 broad.mit.edu 37 12 109306360 109306360 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:109306360C>T ENST00000299134.5 - 14 1401 c.1402G>A c.(1402-1404)Gaa>Aaa p.E468K NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 ACCGTGCATTCCTCGGCCGAC 0.622000 100 139 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197112909 197112909 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:197112909T>C ENST00000367409.4 - 3 729 c.473A>G c.(472-474)aAa>aGa p.K158R ASPM_ENST00000294732.7_Missense_Mutation_p.K158R NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 158 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GGCTGAAATTTTCTTCTTTTT 0.308000 7 66 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54305211 54305211 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr15:54305211G>T ENST00000545554.1 + 1 111 c.111G>T c.(109-111)caG>caT p.Q37H UNC13C_ENST00000260323.11_Missense_Mutation_p.Q37H|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q37H Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 37 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGTATCGTCAGCAGAAAAAGG 0.348000 13 61 7.03913e-09 8.73025e-09 1 1 0 TBKBP1 9755 broad.mit.edu 37 17 45774121 45774121 + Silent SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr17:45774121G>C ENST00000361722.3 + 2 1119 c.270G>C c.(268-270)ctG>ctC p.L90L NM_014726.2 NP_055541.1 A7MCY6 TBKB1_HUMAN TBK1 binding protein 1 90 innate immune response endometrium(5)|kidney(1)|lung(1) 7 GCTTTTCTCTGTATGAAATCA 0.592000 19 14 0 0 1 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23191911 23191911 + RNA SNP C C T rs147199465 by1000genomes TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr15:23191911C>T ENST00000400153.2 - 0 1785 NR_003521.1 TGATTTTCTTCGCACTGATCC 0.408000 7 33 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12856094 12856094 + Silent SNP T T G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:12856094T>G ENST00000332296.7 + 4 1477 c.1374T>G c.(1372-1374)ccT>ccG p.P458P PRAMEF1_ENST00000400814.3_Silent_p.P213P NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 458 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCCCCTGCCCTTCCTGTGGCT 0.562000 6 137 0 0 1 0 0 POGZ 23126 broad.mit.edu 37 1 151378855 151378855 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:151378855T>C ENST00000271715.2 - 19 2970 c.2656A>G c.(2656-2658)Act>Gct p.T886A POGZ_ENST00000409503.1_Missense_Mutation_p.T877A|POGZ_ENST00000392723.1_Missense_Mutation_p.T833A|POGZ_ENST00000368863.2_Missense_Mutation_p.T791A|POGZ_ENST00000540984.1_Missense_Mutation_p.T248A|POGZ_ENST00000531094.1_Missense_Mutation_p.T824A|POGZ_ENST00000491586.1_Missense_Mutation_p.T842A|POGZ_ENST00000361398.3_Missense_Mutation_p.T833A NM_001194937.1|NM_015100.3 NP_001181866.1|NP_055915.2 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 886 Pro-rich. cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GATTTCACAGTGGCAGCTTTG 0.577000 26 67 0 0 1 0 0 CDCA7L 55536 broad.mit.edu 37 7 21947876 21947876 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:21947876C>T ENST00000406877.3 - 4 832 c.553G>A c.(553-555)Gac>Aac p.D185N CDCA7L_ENST00000356195.5_Missense_Mutation_p.D151N|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.D139N NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 185 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 TGTCTACAGTCTTTCTTTCTT 0.433000 19 41 0 0 1 0 0 KTN1 3895 broad.mit.edu 37 14 56101365 56101365 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr14:56101365A>T ENST00000416613.1 + 8 1522 c.1450A>T c.(1450-1452)Act>Tct p.T484S KTN1_ENST00000395311.1_Missense_Mutation_p.T484S|KTN1_ENST00000438792.2_Missense_Mutation_p.T484S|KTN1_ENST00000395309.3_Missense_Mutation_p.T484S|KTN1_ENST00000413890.2_Missense_Mutation_p.T484S|KTN1_ENST00000395314.3_Missense_Mutation_p.T484S|KTN1_ENST00000395308.1_Missense_Mutation_p.T484S Q86UP2 KTN1_HUMAN kinectin 1 (kinesin receptor) 484 microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 GCAAGCAGCTACTCAGTTGAA 0.408000 T RET papillary thryoid 20 13 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138442438 138442438 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:138442438C>G ENST00000344876.4 - 4 3539 c.3153G>C c.(3151-3153)caG>caC p.Q1051H PCDH18_ENST00000511115.1_Missense_Mutation_p.Q231H|PCDH18_ENST00000507846.1_Missense_Mutation_p.Q830H|PCDH18_ENST00000510305.1_Missense_Mutation_p.Q262H|PCDH18_ENST00000412923.2_Missense_Mutation_p.Q1050H NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 1051 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CCGCTACCCCCTGTGGGTAAC 0.562000 11 40 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363758 22363758 + Missense_Mutation SNP T T G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:22363758T>G ENST00000397121.2 - 3 1078 c.761A>C c.(760-762)aAa>aCa p.K254T NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 254 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTCTTCACATTTGTAGGGTTT 0.388000 8 108 0 0 1 0 0 GLS 2744 broad.mit.edu 37 2 191827619 191827619 + Silent SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:191827619C>G ENST00000320717.3 + 18 2175 c.1917C>G c.(1915-1917)ctC>ctG p.L639L GLS_ENST00000409428.1_Silent_p.L144L NM_014905.4 NP_055720.3 O94925 GLSK_HUMAN glutaminase 639 cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TTAAAATTCTCCAAGAATACC 0.428000 23 45 0 0 1 0 0 HOXB2 3212 broad.mit.edu 37 17 46621003 46621003 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr17:46621003C>G ENST00000330070.4 - 2 1665 c.498G>C c.(496-498)aaG>aaC p.K166N HOXB-AS1_ENST00000504972.3_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 166 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 GGCACAGGTACTTATTAAAGT 0.622000 13 39 0 0 1 0 0 OR6B2 389090 broad.mit.edu 37 2 240969641 240969641 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:240969641A>T ENST00000402971.2 - 1 265 c.206T>A c.(205-207)cTg>cAg p.L69Q NM_001005853.1 NP_001005853.1 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, member 2 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) CCAGATCTCCAGGAAAGACAT 0.557000 37 79 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161022062 161022062 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:161022062G>T ENST00000447678.1 - 20 3134 c.3014C>A c.(3013-3015)cCc>cAc p.P1005H LPA_ENST00000316300.5_Missense_Mutation_p.P1005H NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3513 Kringle 9. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CCTGACACTGGGATCTGTTGT 0.488000 39 38 3.93418e-24 6.2043e-24 1 1 0 ZNF626 199777 broad.mit.edu 37 19 20807917 20807917 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:20807917G>T ENST00000601440.1 - 4 912 c.766C>A c.(766-768)Ccc>Acc p.P256T CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 CACTTGTAGGGTTTCTCTCCA 0.388000 11 61 0.000673444 0.000716127 1 1 0 FAM173B 134145 broad.mit.edu 37 5 10227733 10227733 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:10227733T>A ENST00000280330.8 - 6 636 c.30A>T c.(28-30)gaA>gaT p.E10D FAM173B_ENST00000510047.1_Missense_Mutation_p.E157D|FAM173B_ENST00000511437.1_Missense_Mutation_p.E174D|FAM173B_ENST00000510052.1_5'UTR Q6P4H8 F173B_HUMAN family with sequence similarity 173, member B 174 integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 16 CAAGTTCACGTTCAAGTTTCT 0.468000 23 33 0 0 1 0 0 XPO1 7514 broad.mit.edu 37 2 61721087 61721087 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:61721087C>A ENST00000401558.2 - 12 1914 c.1187G>T c.(1186-1188)gGa>gTa p.G396V XPO1_ENST00000406957.1_Missense_Mutation_p.G396V|XPO1_ENST00000404992.2_Missense_Mutation_p.G396V NM_003400.3 NP_003391.1 O14980 XPO1_HUMAN exportin 1 (CRM1 homolog, yeast) 396 Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export. intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) ATGTTGACTTCCAGAAAGCAA 0.413000 Mis CLL 62 119 5.82218e-30 9.40266e-30 1 1 0 PCDHA6 56142 broad.mit.edu 37 5 140209794 140209794 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:140209794G>A ENST00000529310.1 + 1 2232 c.2118G>A c.(2116-2118)gcG>gcA p.A706A PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATCTGCGCGGTATCCAGCC 0.697000 9 78 0 0 1 0 0 KLHL22 84861 broad.mit.edu 37 22 20819798 20819798 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr22:20819798G>A ENST00000328879.4 - 4 615 c.459C>T c.(457-459)ctC>ctT p.L153L KLHL22_ENST00000440659.2_Silent_p.L10L NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 153 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GGTAGACATCGAGAATGTTCT 0.498000 36 60 0 0 1 0 0 MMP8 4317 broad.mit.edu 37 11 102593161 102593161 + Splice_Site SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:102593161T>A ENST00000236826.3 - 2 444 c.347_splice c.e2+1 p.R116_splice NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) 116 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) AGATATCACCTGTAGGTCAAG 0.458000 13 37 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125081669 125081669 + Nonsense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:125081669A>T ENST00000522917.1 + 29 3993 c.3787A>T c.(3787-3789)Aag>Tag p.K1263* FER1L6_ENST00000399018.1_Nonsense_Mutation_p.K1263*|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1263 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CAAAATGCTCAAGAAGAAACC 0.468000 9 56 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346862 48346862 + Missense_Mutation SNP G G A rs149944761 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:48346862G>A ENST00000319856.4 + 1 391 c.370G>A c.(370-372)Gct>Act p.A124T NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 GTGCTGCATGGCTCAGCTCTT 0.453000 48 284 0 0 1 0 0 GRP 2922 broad.mit.edu 37 18 56892962 56892962 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr18:56892962C>A ENST00000256857.2 + 2 476 c.378C>A c.(376-378)ggC>ggA p.G126G GRP_ENST00000529320.2_Intron|GRP_ENST00000420468.2_Silent_p.G126G NM_001012512.1|NM_002091.3 NP_001012530.1|NP_002082.2 P07492 GRP_HUMAN gastrin-releasing peptide 126 neuropeptide signaling pathway extracellular space neuropeptide hormone activity large_intestine(1)|lung(3) 4 Colorectal(73;0.0946) GTTCAAAAGGCAAAGGTAAAA 0.478000 86 63 1.51188e-25 2.40943e-25 1 1 0 DPP6 1804 broad.mit.edu 37 7 154564564 154564564 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:154564564G>A ENST00000404039.1 + 10 1443 c.856G>A c.(856-858)Gag>Aag p.E286K DPP6_ENST00000427557.1_Missense_Mutation_p.E243K|DPP6_ENST00000377770.3_Missense_Mutation_p.E350K|DPP6_ENST00000332007.3_Missense_Mutation_p.E288K NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 350 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GGCTGGAAGTGAGAACCCCAG 0.498000 8 12 0 0 1 0 0 MURC 347273 broad.mit.edu 37 9 103340802 103340802 + Missense_Mutation SNP A A C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr9:103340802A>C ENST00000307584.5 + 1 442 c.377A>C c.(376-378)aAg>aCg p.K126T NM_001018116.1 NP_001018126.1 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 126 cell differentiation|muscle organ development|transcription, DNA-dependent endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1) 16 Acute lymphoblastic leukemia(62;0.0461) GAAATAATGAAGAAAAACAAA 0.373000 26 27 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121890960 121890960 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:121890960C>A ENST00000377069.4 - 13 2235 c.1829G>T c.(1828-1830)cGc>cTc p.R610L KDM2B_ENST00000536437.1_Missense_Mutation_p.R524L|KDM2B_ENST00000377071.4_Missense_Mutation_p.R641L|KDM2B_ENST00000542973.1_Missense_Mutation_p.R9L NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 641 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CTGCTTCATGCGCCCGGGGCC 0.706000 6 11 0.0293803 0.0297747 1 1 0 CDK15 65061 broad.mit.edu 37 2 202700438 202700438 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:202700438C>A ENST00000450471.2 + 8 889 c.803C>A c.(802-804)cCt>cAt p.P268H CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000434439.1_Missense_Mutation_p.P268H|CDK15_ENST00000374598.4_Missense_Mutation_p.P268H|CDK15_ENST00000410091.3_Missense_Mutation_p.P217H|CDK15_ENST00000260967.2_Missense_Mutation_p.P217H NM_001261435.1 NP_001248364.1 Q96Q40 CDK15_HUMAN cyclin-dependent kinase 15 268 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1) 26 Adenosine triphosphate(DB00171) TACCGGCCCCCTGATGCTTTG 0.522000 12 37 0.000978159 0.00103651 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11540016 11540016 + Nonsense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr17:11540016C>A ENST00000262442.3 + 9 1769 c.1701C>A c.(1699-1701)taC>taA p.Y567* DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Y567* NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 567 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTGATAAATACCTGGTCCTCA 0.458000 37 26 3.93418e-24 6.2043e-24 1 1 0 INPP5D 3635 broad.mit.edu 37 2 234106868 234106868 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:234106868G>T ENST00000359570.5 + 27 2785 c.2785G>T c.(2785-2787)Gcc>Tcc p.A929S INPP5D_ENST00000450745.1_Missense_Mutation_p.A693S|INPP5D_ENST00000455936.2_Missense_Mutation_p.A693S Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 941 Pro-rich. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GCAGCCCACAGCCTGGAGCTA 0.637000 7 42 0.000274275 0.000293727 1 1 0 OR4A16 81327 broad.mit.edu 37 11 55110891 55110891 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:55110891C>A ENST00000314721.2 + 1 265 c.215C>A c.(214-216)tCc>tAc p.S72Y NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S72Y(1) NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 GCCATATATTCCACTGCCATG 0.443000 66 161 1.55545e-33 2.55296e-33 1 1 0 VSTM2A 222008 broad.mit.edu 37 7 54617659 54617659 + Missense_Mutation SNP G G T rs17852553 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:54617659G>T ENST00000302287.3 + 4 836 c.430G>T c.(430-432)Gcc>Tcc p.A144S VSTM2A_ENST00000407838.3_Missense_Mutation_p.A144S|VSTM2A_ENST00000404951.1_Missense_Mutation_p.A144S|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Missense_Mutation_p.A143S|VSTM2A_ENST00000402613.3_Missense_Mutation_p.A144S Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 144 extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) CAAGGCCCAGGCCTATCTGAA 0.532000 5 12 0.014758 0.0150571 1 1 0 ABAT 18 broad.mit.edu 37 16 8868885 8868885 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr16:8868885T>C ENST00000396600.2 + 13 2031 c.1093T>C c.(1093-1095)Ttc>Ctc p.F365L ABAT_ENST00000268251.8_Missense_Mutation_p.F365L|ABAT_ENST00000569156.1_Missense_Mutation_p.F365L|ABAT_ENST00000567812.1_Missense_Mutation_p.F380L|ABAT_ENST00000425191.2_Missense_Mutation_p.F365L NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 365 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) TGGGGGCTTCTTCCACAAGGA 0.557000 4 67 0 0 1 0 0 TNFSF10 8743 broad.mit.edu 37 3 172232725 172232725 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:172232725C>T ENST00000241261.2 - 2 318 c.196G>A c.(196-198)Gac>Aac p.D66N TNFSF10_ENST00000420541.2_Missense_Mutation_p.D66N NM_003810.3 NP_003801.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 66 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TCATTGGGGTCCCAATAACTG 0.448000 44 69 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145156268 145156268 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:145156268C>A ENST00000558170.2 - 8 3670 c.2486G>T c.(2485-2487)aGt>aTt p.S829I ZEB2_ENST00000303660.4_Missense_Mutation_p.S829I|ZEB2_ENST00000409487.3_Missense_Mutation_p.S829I|ZEB2_ENST00000539609.3_Missense_Mutation_p.S805I NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 829 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) GGCTATAATACTTTTGGGTTC 0.398000 46 76 1.44828e-35 2.40319e-35 1 1 0 ST18 9705 broad.mit.edu 37 8 53092835 53092835 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:53092835C>A ENST00000276480.7 - 9 807 c.124G>T c.(124-126)Gct>Tct p.A42S NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 42 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGATCTTCAGCTGTTCTCTTC 0.438000 39 96 3.09479e-21 4.78069e-21 1 1 0 OR9Q1 219956 broad.mit.edu 37 11 57947239 57947239 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:57947239G>C ENST00000335397.3 + 3 639 c.323G>C c.(322-324)gGt>gCt p.G108A NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) ACCTTCTTTGGTTCCATCGAC 0.557000 22 87 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560848 44560848 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr18:44560848G>T ENST00000332567.4 - 1 1140 c.788C>A c.(787-789)cCa>cAa p.P263Q KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 263 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGGCATCCTTGGGGTTTCCTC 0.607000 21 43 0.000132079 0.000143224 1 1 0 CLASRP 11129 broad.mit.edu 37 19 45561077 45561077 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:45561077G>A ENST00000544944.2 + 6 1226 c.534G>A c.(532-534)gcG>gcA p.A178A CLASRP_ENST00000221455.3_Silent_p.A178A|CLASRP_ENST00000391953.4_Silent_p.A116A Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 178 mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 TAGAGAAGGCGGCAGAAAAGC 0.612000 30 53 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144874726 144874726 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:144874726C>T ENST00000369359.4 - 33 5328 c.5290G>A c.(5290-5292)Gag>Aag p.E1764K PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1628K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1764K|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1628K|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1584K Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1628 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.E1628*(2) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGTGTGTACTCGCTGACTATG 0.527000 T PDGFRB MPD 47 357 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 169708 169708 + Splice_Site SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:169708G>T ENST00000283426.6 + 12 2711 c.e12+1 NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CCTGAGACACGTAAGTGCAGG 0.657000 25 68 5.45024e-15 7.80082e-15 1 1 0 ARAP3 64411 broad.mit.edu 37 5 141046008 141046008 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:141046008C>A ENST00000239440.4 - 17 2620 c.2555G>T c.(2554-2556)cGg>cTg p.R852L ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R754L|ARAP3_ENST00000513878.1_Missense_Mutation_p.R514L NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 852 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CTGTAGCCGCCGCAGATGCAC 0.622000 6 8 3.59834e-05 4.00995e-05 1 1 0 DKK2 27123 broad.mit.edu 37 4 107845814 107845814 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:107845814G>T ENST00000285311.3 - 3 1122 c.417C>A c.(415-417)atC>atA p.I139I DKK2_ENST00000510463.1_Silent_p.I93I|DKK2_ENST00000513208.1_Silent_p.I39I NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 139 multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) CCAGAGCCGGGATGTGAGGGG 0.428000 24 91 2.21704e-12 3.00244e-12 1 1 0 COL5A2 1290 broad.mit.edu 37 2 189936804 189936804 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:189936804G>A ENST00000374866.3 - 18 1394 c.1120C>T c.(1120-1122)Cca>Tca p.P374S NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 374 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GAAGAGCCTGGTATCCCAAGA 0.348000 7 17 0 0 1 0 0 FAM198B 51313 broad.mit.edu 37 4 159091958 159091958 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:159091958G>T ENST00000296530.8 - 2 1191 c.570C>A c.(568-570)gcC>gcA p.A190A RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000585682.1_Silent_p.A190A|FAM198B_ENST00000393807.5_Silent_p.A190A|FAM198B_ENST00000592057.1_Silent_p.A190A|FAM198B_ENST00000589306.1_Intron NM_016613.6 NP_057697.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 190 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 CTGGGCCCCCGGCTCGCACTC 0.612000 OREG0016378 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 19 0.00185496 0.00194851 1 1 0 CAD 790 broad.mit.edu 37 2 27465789 27465789 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:27465789A>G ENST00000264705.4 + 42 6590 c.6428A>G c.(6427-6429)tAc>tGc p.Y2143C CAD_ENST00000403525.1_Missense_Mutation_p.Y2080C NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 2143 ATCase (Aspartate transcarbamylase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GATGTGCTCTACATGACTCGA 0.582000 18 25 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34671710 34671710 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:34671710C>A ENST00000374789.3 - 9 1482 c.1157G>T c.(1156-1158)aGc>aTc p.S386I PARD3_ENST00000340077.5_Missense_Mutation_p.S386I|PARD3_ENST00000374788.3_Missense_Mutation_p.S386I|PARD3_ENST00000346874.4_Missense_Mutation_p.S386I|PARD3_ENST00000374773.1_Missense_Mutation_p.S386I|PARD3_ENST00000350537.4_Missense_Mutation_p.S386I|PARD3_ENST00000544292.1_Missense_Mutation_p.S116I|PARD3_ENST00000374790.3_Missense_Mutation_p.S342I|PARD3_ENST00000374776.1_Missense_Mutation_p.S386I|PARD3_ENST00000545260.1_Missense_Mutation_p.S342I|PARD3_ENST00000545693.1_Missense_Mutation_p.S386I|PARD3_ENST00000374794.3_Missense_Mutation_p.S342I NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 386 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) AATATACTGGCTGTCAGGGCT 0.478000 14 72 3.27435e-08 3.95542e-08 1 1 0 TECTA 7007 broad.mit.edu 37 11 120984388 120984388 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:120984388G>T ENST00000392793.1 + 6 1022 c.751G>T c.(751-753)Gga>Tga p.G251* TECTA_ENST00000264037.2_Nonsense_Mutation_p.G251* O75443 TECTA_HUMAN tectorin alpha 251 NIDO. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TAAAGTTGATGGAAAGGAAAT 0.502000 16 36 1.15088e-07 1.34977e-07 1 1 0 ZNF37A 7587 broad.mit.edu 37 10 38407051 38407051 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:38407051G>T ENST00000351773.3 + 8 1802 c.972G>T c.(970-972)gaG>gaT p.E324D ZNF37A_ENST00000361085.4_Missense_Mutation_p.E324D NM_001007094.2 NP_001007095.1 P17032 ZN37A_HUMAN zinc finger protein 37A 324 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 ATACAGGGGAGAGACCTTATG 0.413000 26 57 3.08376e-08 3.74015e-08 1 1 0 C9 735 broad.mit.edu 37 5 39342272 39342272 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:39342272C>A ENST00000263408.4 - 2 199 c.104G>T c.(103-105)aGt>aTt p.S35I C9_ENST00000509186.1_5'UTR NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 35 complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TGCAGAGCCACTGCTTTCTGT 0.428000 32 34 5.60225e-13 7.74315e-13 1 1 0 TAF4B 6875 broad.mit.edu 37 18 23866407 23866407 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr18:23866407G>A ENST00000269142.5 + 7 2532 c.1534G>A c.(1534-1536)Ggc>Agc p.G512S TAF4B_ENST00000578121.1_Missense_Mutation_p.G512S|TAF4B_ENST00000400466.2_Missense_Mutation_p.G512S NM_005640.1 NP_005631.1 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa 512 Required for interaction with P65/RELA. transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1) 29 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) TGCCCAGCCGGGCCCTGTCCT 0.443000 29 227 0 0 1 0 0 RGS5 8490 broad.mit.edu 37 1 163131740 163131740 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:163131740C>A ENST00000313961.5 - 3 459 c.182G>T c.(181-183)tGg>tTg p.W61L RGS5_ENST00000367903.3_Missense_Mutation_p.W81L|RGS5_ENST00000530507.1_Missense_Mutation_p.W61L|RGS5_ENST00000534288.1_5'UTR|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000527988.1_Intron NM_001254749.1|NM_003617.3 NP_001241678.1|NP_003608.1 O15539 RGS5_HUMAN regulator of G-protein signaling 5 61 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 LUSC - Lung squamous cell carcinoma(543;0.187) GGAATCACGCCACTGCAGGGC 0.418000 4 45 0.00909568 0.0093911 1 1 0 CDH2 1000 broad.mit.edu 37 18 25570298 25570298 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr18:25570298G>T ENST00000269141.3 - 10 1784 c.1361C>A c.(1360-1362)aCa>aAa p.T454K CDH2_ENST00000399380.3_Missense_Mutation_p.T423K NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 454 Cadherin 3. T -> A (in dbSNP:rs17857112). adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CATCCTATTTGTTTCAAAGTC 0.408000 71 57 5.61366e-43 9.41847e-43 1 1 0 GNB3 2784 broad.mit.edu 37 12 6953051 6953051 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:6953051C>T ENST00000229264.3 + 9 1013 c.608C>T c.(607-609)gCc>gTc p.A203V GNB3_ENST00000435982.2_Missense_Mutation_p.A202V NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 203 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 ATTTCGGGGGCCTGTGATGCC 0.562000 18 115 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 100994546 100994546 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:100994546T>A ENST00000193391.7 - 6 814 c.627A>T c.(625-627)gaA>gaT p.E209D NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 209 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CTGAGGCACCTTCATAGGCGT 0.428000 20 50 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16672859 16672859 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:16672859G>A ENST00000513610.1 - 37 5702 c.5248C>T c.(5248-5250)Cac>Tac p.H1750Y MYO10_ENST00000505695.1_Missense_Mutation_p.H1089Y|MYO10_ENST00000427430.2_Missense_Mutation_p.H1107Y|MYO10_ENST00000515803.1_Missense_Mutation_p.H1089Y|MYO10_ENST00000274203.9_Missense_Mutation_p.H1107Y NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1750 FERM. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 TTGTCGACGTGGCCGTTGTAT 0.493000 5 47 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3614103 3614103 + RNA SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr16:3614103G>C ENST00000301749.7 - 0 1240 NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CGGTCCACCAGGCCCCCTGGG 0.592000 18 25 0 0 1 0 0 OR13A1 79290 broad.mit.edu 37 10 45799453 45799453 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:45799453G>A ENST00000553795.1 - 4 726 c.418C>T c.(418-420)Cgg>Tgg p.R140W OR13A1_ENST00000374401.2_Missense_Mutation_p.R140W|OR13A1_ENST00000536058.1_Missense_Mutation_p.R140W NM_001004297.2 NP_001004297.2 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, member 1 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 GCTGCGTACCGGTCATAGGCC 0.617000 10 19 0 0 1 0 0 OR11H12 440153 broad.mit.edu 37 14 19378050 19378050 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr14:19378050G>A ENST00000550708.1 + 1 529 c.457G>A c.(457-459)Ggg>Agg p.G153R NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G153W(1) NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TATCATGACTGGGCATCTCTG 0.483000 13 259 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89401853 89401853 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr15:89401853A>T ENST00000439576.2 + 12 6411 c.6037A>T c.(6037-6039)Aat>Tat p.N2013Y ACAN_ENST00000559004.1_Missense_Mutation_p.N2013Y|ACAN_ENST00000561243.1_Missense_Mutation_p.N2013Y|ACAN_ENST00000352105.7_Missense_Mutation_p.N2013Y NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2013 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CAGCACCACCAATGTAAGTGG 0.522000 8 46 0 0 1 0 0 MRS2 57380 broad.mit.edu 37 6 24423246 24423246 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:24423246G>T ENST00000378386.3 + 10 1282 c.1189G>T c.(1189-1191)Gga>Tga p.G397* MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000378353.1_Nonsense_Mutation_p.G397*|MRS2_ENST00000535061.1_Nonsense_Mutation_p.G347*|MRS2_ENST00000443868.2_Nonsense_Mutation_p.G400*|MRS2_ENST00000543597.1_Nonsense_Mutation_p.G106* NM_020662.2 NP_065713.1 Q9HD23 MRS2_HUMAN MRS2 magnesium transporter 397 ion transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 TTCATTCCTTGGACGACAGCT 0.473000 58 70 3.84483e-29 6.19275e-29 1 1 0 OR8A1 390275 broad.mit.edu 37 11 124440003 124440003 + Silent SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:124440003C>G ENST00000284287.3 + 1 111 c.39C>G c.(37-39)ccC>ccG p.P13P NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) GCAGGCCTCCCACCCAGAGGA 0.522000 19 41 0 0 1 0 0 CCT5 22948 broad.mit.edu 37 5 10254823 10254823 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:10254823G>T ENST00000280326.4 + 3 624 c.204G>T c.(202-204)gtG>gtT p.V68V CCT5_ENST00000515676.1_Silent_p.V30V|CCT5_ENST00000503026.1_Silent_p.V47V|CCT5_ENST00000515390.1_Intron|CCT5_ENST00000506600.1_Intron NM_012073.3 NP_036205.1 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 68 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2) 26 ATGGAGATGTGACTGTAACTA 0.408000 45 84 2.00842e-17 3.00269e-17 1 1 0 FPGS 2356 broad.mit.edu 37 9 130569891 130569891 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr9:130569891C>G ENST00000373245.1 + 8 718 c.668C>G c.(667-669)tCt>tGt p.S223C FPGS_ENST00000373225.3_Missense_Mutation_p.S173C|FPGS_ENST00000373247.2_Missense_Mutation_p.S223C|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.S197C Q05932 FOLC_HUMAN folylpolyglutamate synthase 223 folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process cytosol|mitochondrial matrix ATP binding|tetrahydrofolylpolyglutamate synthase activity endometrium(2)|kidney(1)|lung(3)|ovary(1) 7 L-Glutamic Acid(DB00142) GGAGTCTCCTCTCTTGGCATC 0.632000 12 19 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16956491 16956491 + RNA SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:16956491C>G ENST00000412962.1 - 0 294 gatggggtttcgccatgttgg 0.577000 3 30 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186673452 186673452 + Silent SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:186673452A>T ENST00000343098.5 + 17 19686 c.19686A>T c.(19684-19686)acA>acT p.T6562T FSIP2_ENST00000424728.1_Silent_p.T6473T NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TTAACTCAACAATTTCAAATG 0.313000 21 48 0 0 1 0 0 SKIV2L 6499 broad.mit.edu 37 6 31934831 31934831 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:31934831G>A ENST00000375394.2 + 20 2504 c.2391G>A c.(2389-2391)gaG>gaA p.E797E SKIV2L_ENST00000544581.1_Silent_p.E604E NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 797 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 GAGCTTTGGAGGAGCCTGACA 0.587000 43 33 0 0 1 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65157744 65157744 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr15:65157744C>T ENST00000323544.4 + 6 1258 c.1130C>T c.(1129-1131)cCc>cTc p.P377L AC069368.3_ENST00000437723.1_Intron NM_001195059.1|NM_025201.4 NP_001181988.1|NP_079477.2 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O member 2 377 Pro-rich. NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 GCACTGCCCCCCTGGGACCTG 0.622000 17 34 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163279797 163279797 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:163279797T>A ENST00000328032.4 - 8 2393 c.2182A>T c.(2182-2184)Ata>Tta p.I728L KCNH7_ENST00000332142.5_Intron NM_173162.2 NP_775185.1 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 0 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) ATTTTGGCTATCACTATAATG 0.418000 16 90 0 0 1 0 0 MIR1324 100302212 broad.mit.edu 37 3 75679997 75679997 + RNA SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:75679997C>A ENST00000408868.1 + 0 84 NR_031714.1 TATGCACTTTCCTGGAGGCTC 0.512000 4 55 0.014758 0.0150571 1 1 0 DHX58 79132 broad.mit.edu 37 17 40255747 40255747 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr17:40255747G>T ENST00000251642.3 - 12 1855 c.1633C>A c.(1633-1635)Cag>Aag p.Q545K NM_024119.2 NP_077024.2 Q96C10 DHX58_HUMAN DEXH (Asp-Glu-X-His) box polypeptide 58 545 innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GGGAACTGCTGCCGCTGGTTC 0.662000 13 47 9.31168e-06 1.05323e-05 1 1 0 CUTC 51076 broad.mit.edu 37 10 101503044 101503044 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:101503044G>T ENST00000370476.5 + 4 457 c.328G>T c.(328-330)Ggt>Tgt p.G110C CUTC_ENST00000493385.1_3'UTR NM_015960.2 NP_057044.2 Q9NTM9 CUTC_HUMAN cutC copper transporter 110 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) CAAGCTTTATGGTGCTGATGG 0.428000 23 94 6.44725e-10 8.23285e-10 1 1 0 AOX1 316 broad.mit.edu 37 2 201470324 201470324 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:201470324C>A ENST00000374700.2 + 10 1121 c.880C>A c.(880-882)Ctg>Atg p.L294M NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 294 FAD-binding PCMH-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) AATTGAAGAACTGAGTGTTGT 0.343000 14 65 0.000219431 0.000236672 1 1 0 G6PC 2538 broad.mit.edu 37 17 41063082 41063082 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr17:41063082T>C ENST00000253801.2 + 5 792 c.713T>C c.(712-714)cTg>cCg p.L238P G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR NM_000151.3 NP_000142.2 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 238 gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) CTGTGGACTCTGGAGAAAGCC 0.532000 39 21 0 0 1 0 0 MRGPRD 116512 broad.mit.edu 37 11 68747859 68747859 + Silent SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:68747859C>G ENST00000309106.3 - 1 596 c.597G>C c.(595-597)ctG>ctC p.L199L NM_198923.2 NP_944605.2 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 199 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CAAAGAGGGTCAGGCTGGACA 0.592000 18 28 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605231 140605231 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:140605231G>A ENST00000239449.4 + 1 2154 c.2154G>A c.(2152-2154)agG>agA p.R718R PCDHB14_ENST00000515856.2_Silent_p.R565R NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 718 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGGAGCAGGGCGGCCTCGG 0.672000 33 123 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21119496 21119496 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr22:21119496C>A ENST00000255882.6 - 21 2552 c.2466G>T c.(2464-2466)ggG>ggT p.G822G PI4KA_ENST00000572273.1_Silent_p.G764G|PI4KA_ENST00000466162.1_5'UTR NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 764 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TTTCACAGACCCCCTCGTACC 0.502000 52 124 1.21353e-23 1.90879e-23 1 1 0 SPATA8 145946 broad.mit.edu 37 15 97326909 97326909 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr15:97326909G>T ENST00000328504.3 + 1 291 c.24G>T c.(22-24)ggG>ggT p.G8G SPATA8_ENST00000558553.1_Intron NM_173499.3 NP_775770.1 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 8 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) GGATGTCAGGGGCCCAGGACA 0.557000 17 28 5.26018e-13 7.28704e-13 1 1 0 MZT2B 80097 broad.mit.edu 37 2 130948089 130948089 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:130948089G>T ENST00000281871.6 + 3 722 c.367G>T c.(367-369)Gaa>Taa p.E123* MZT2B_ENST00000409255.1_Nonsense_Mutation_p.E183* NM_025029.3 NP_079305.2 Q6NZ67 MZT2B_HUMAN mitotic spindle organizing protein 2B 123 centrosome|gamma-tubulin ring complex|spindle protein binding lung(1) 1 GGCCCTGGCGGAACGCAGCAG 0.657000 16 19 1.15088e-07 1.34977e-07 1 1 0 TIPRL 261726 broad.mit.edu 37 1 168148409 168148409 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:168148409G>T ENST00000367833.2 + 1 239 c.94G>T c.(94-96)Gat>Tat p.D32Y TIPRL_ENST00000367830.3_Missense_Mutation_p.D32Y NM_152902.3 NP_690866.1 O75663 TIPRL_HUMAN TIP41, TOR signaling pathway regulator-like (S. cerevisiae) 32 DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity cytoplasm protein binding breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1) 6 all_hematologic(923;0.215) GAAGTCGGCGGATGTGGAGAA 0.652000 18 23 1.67942e-08 2.06172e-08 1 1 0 SLC17A3 10786 broad.mit.edu 37 6 25850032 25850032 + Splice_Site SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:25850032C>A ENST00000397060.4 - 10 1381 c.e10+1 SLC17A3_ENST00000361703.6_Splice_Site|SLC17A3_ENST00000360657.3_Splice_Site NM_001098486.1 NP_001091956.1 O00476 NPT4_HUMAN solute carrier family 17 (organic anion transporter), member 3 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 CAGAGTCCTACCTTGGAGCAA 0.413000 14 83 1.5842e-08 1.95676e-08 1 1 0 ABCB1 5243 broad.mit.edu 37 7 87150137 87150137 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:87150137T>A ENST00000265724.3 - 23 3158 c.2741A>T c.(2740-2742)cAg>cTg p.Q914L ABCB1_ENST00000543898.1_Missense_Mutation_p.Q850L|ABCB1_ENST00000488737.2_5'UTR NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 914 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTCAAACTTCTGCTCCTGAGT 0.413000 26 52 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29346913 29346913 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr15:29346913A>G ENST00000558402.1 + 5 1425 c.826A>G c.(826-828)Agg>Ggg p.R276G APBA2_ENST00000558330.1_Missense_Mutation_p.R276G|APBA2_ENST00000558259.1_Missense_Mutation_p.R276G|APBA2_ENST00000411764.1_Missense_Mutation_p.R276G|APBA2_ENST00000561069.1_Missense_Mutation_p.R276G Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 276 nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CAGCCCCAGCAGGCACGAGGC 0.677000 5 16 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164564 139164564 + Silent SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:139164564A>G ENST00000395297.1 - 13 2324 c.2154T>C c.(2152-2154)gtT>gtC p.V718V NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 718 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CATGTCTTCGAACAAACGGGT 0.562000 HNSCC(54;0.14) 22 38 0 0 1 0 0 SLC6A14 11254 broad.mit.edu 37 X 115584235 115584235 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chrX:115584235G>A ENST00000371900.4 + 9 1301 c.1213G>A c.(1213-1215)Ggt>Agt p.G405S NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 405 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) ACTCCCAGGTGGTCCATTTTG 0.363000 19 29 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101374870 101374870 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:101374870T>C ENST00000344327.3 - 2 1254 c.830A>G c.(829-831)tAt>tGt p.Y277C TRPC6_ENST00000360497.4_Missense_Mutation_p.Y277C|TRPC6_ENST00000532133.1_Missense_Mutation_p.Y277C|TRPC6_ENST00000348423.4_Missense_Mutation_p.Y277C NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 277 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CAGGCCTTTATAGGCATTAAT 0.448000 23 180 0 0 1 0 0 RHPN1 114822 broad.mit.edu 37 8 144464083 144464083 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:144464083C>T ENST00000289013.6 + 14 1843 c.1742C>T c.(1741-1743)gCg>gTg p.A581V NM_052924.2 NP_443156.2 Q8TCX5 RHPN1_HUMAN rhophilin, Rho GTPase binding protein 1 606 PDZ. signal transduction intracellular endometrium(1)|large_intestine(1)|lung(7) 9 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) GCGGGAGAGGCGGGCGCCAGC 0.672000 3 19 0 0 1 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143913130 143913130 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:143913130T>A ENST00000409869.1 + 3 248 c.71T>A c.(70-72)gTg>gAg p.V24E ARHGAP15_ENST00000295095.6_Missense_Mutation_p.V24E Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 24 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) ACAGGAGCTGTGCAAATGAGA 0.423000 22 30 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70587496 70587496 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:70587496G>T ENST00000310961.5 + 27 4832 c.4414G>T c.(4414-4416)Gaa>Taa p.E1472* LRRC7_ENST00000415775.2_Nonsense_Mutation_p.E798*|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.E1514* Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1514 PDZ. centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TATGGAACATGAAAAAGCTGT 0.318000 36 60 3.76114e-14 5.3202e-14 1 1 0 SIGLEC7 27036 broad.mit.edu 37 19 51656387 51656387 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:51656387G>A ENST00000317643.6 + 7 1358 c.1289G>A c.(1288-1290)gGg>gAg p.G430E SIGLEC7_ENST00000600577.1_3'UTR|CTD-3187F8.14_ENST00000600074.1_RNA|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.G337E NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 430 cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) CACTCCTCAGGGGAGGAAAGA 0.542000 53 109 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31355344 31355344 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr15:31355344C>T ENST00000542188.1 - 7 1306 c.993G>A c.(991-993)gcG>gcA p.A331A TRPM1_ENST00000397795.2_Silent_p.A292A|TRPM1_ENST00000256552.6_Silent_p.A314A NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 292 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) AGTACTTGTGCGCAAAGGACA 0.547000 15 41 0 0 1 0 0 FARSA 2193 broad.mit.edu 37 19 13041496 13041496 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:13041496C>G ENST00000588025.1 - 3 475 c.335G>C c.(334-336)cGg>cCg p.R112P FARSA_ENST00000314606.4_Missense_Mutation_p.R72P|CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000423140.2_Missense_Mutation_p.R72P Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 72 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 20 L-Phenylalanine(DB00120) GCTGCCCTCCCGGGCAATCTC 0.627000 4 29 0 0 1 0 0 DKK1 22943 broad.mit.edu 37 10 54074344 54074344 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:54074344C>A ENST00000373970.3 + 1 289 c.150C>A c.(148-150)ggC>ggA p.G50G NM_012242.2 NP_036374.1 O94907 DKK1_HUMAN dickkopf WNT signaling pathway inhibitor 1 50 negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 16 CACCGCTGGGCGGCGCTGCGG 0.647000 OREG0020191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 29 0.00010058 0.000109263 1 1 0 DSG3 1830 broad.mit.edu 37 18 29039000 29039000 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr18:29039000C>A ENST00000257189.4 + 5 460 c.377C>A c.(376-378)aCa>aAa p.T126K NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 126 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding p.T126K(1) breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TCCTAGATCACATGTCGGGCT 0.363000 31 32 2.70662e-09 3.39875e-09 1 1 0 LCE3B 353143 broad.mit.edu 37 1 152586355 152586355 + Silent SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:152586355A>G ENST00000335633.1 + 1 69 c.69A>G c.(67-69)ccA>ccG p.P23P NM_178433.1 NP_848520.1 Q5TA77 LCE3B_HUMAN late cornified envelope 3B 23 Cys-rich. keratinization large_intestine(1)|lung(2)|prostate(1) 4 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367) AGTGCCCCCCAAAGAGCTCAG 0.632000 39 43 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4810267 4810267 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:4810267A>T ENST00000354582.6 + 45 6103 c.5753A>T c.(5752-5754)aAa>aTa p.K1918I ITPR1_ENST00000443694.2_Missense_Mutation_p.K1918I|ITPR1_ENST00000302640.8_Missense_Mutation_p.K1918I|ITPR1_ENST00000357086.4_Missense_Mutation_p.K1885I|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.K1870I|ITPR1_ENST00000423119.2_Missense_Mutation_p.K1885I Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1933 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GCCACCAGGAAAGCCTTCACC 0.587000 8 77 0 0 1 0 0 PRSS38 339501 broad.mit.edu 37 1 228033808 228033808 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:228033808A>G ENST00000366757.3 + 5 904 c.880A>G c.(880-882)Atc>Gtc p.I294V NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 294 proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 TAACATAGAAATCACGCCCAC 0.557000 15 62 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 32949131 32949131 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:32949131T>C ENST00000340811.4 - 11 2377 c.2269A>G c.(2269-2271)Aac>Gac p.N757D PKP2_ENST00000070846.6_Missense_Mutation_p.N801D NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 801 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGGATTATGTTGTTCAATGTG 0.458000 22 49 0 0 1 0 0 ASB5 140458 broad.mit.edu 37 4 177143571 177143571 + Splice_Site SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:177143571C>A ENST00000296525.3 - 3 390 c.276_splice c.e3-1 p.G93_splice ASB5_ENST00000512254.1_Splice_Site_p.G40_splice|ASB5_ENST00000511879.1_5'UTR NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 93 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) ACATTATAACCCTAAATGTGG 0.398000 4 46 0.014758 0.0150571 1 1 0 TMCO3 55002 broad.mit.edu 37 13 114150319 114150319 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr13:114150319C>T ENST00000434316.2 + 2 782 c.423C>T c.(421-423)gcC>gcT p.A141A TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Silent_p.A141A NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 141 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) GCCTGGAGGCCCTGAGAGAGG 0.567000 6 9 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52322092 52322092 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:52322092G>T ENST00000356297.4 - 17 2192 c.2092C>A c.(2092-2094)Cgc>Agc p.R698S PXDNL_ENST00000543296.1_Missense_Mutation_p.R698S NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 698 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTGAGGGAGCGCGGGGACACC 0.607000 7 27 1.12685e-05 1.26744e-05 1 1 0 LALBA 3906 broad.mit.edu 37 12 48962359 48962359 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:48962359G>A ENST00000549817.1 - 3 354 c.309C>T c.(307-309)gaC>gaT p.D103D LALBA_ENST00000301046.2_Silent_p.D103D P00709 LALBA_HUMAN lactalbumin, alpha- 103 cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction extracellular space calcium ion binding|lactose synthase activity large_intestine(1)|stomach(2) 3 CATCAGTAATGTCATCATCCA 0.433000 16 94 0 0 1 0 0 TMEM59L 25789 broad.mit.edu 37 19 18731233 18731233 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:18731233C>A ENST00000600490.1 + 9 1101 c.916C>A c.(916-918)Cag>Aag p.Q306K TMEM59L_ENST00000262817.3_Missense_Mutation_p.Q306K Q9UK28 TM59L_HUMAN transmembrane protein 59-like 306 Golgi membrane|integral to membrane|membrane fraction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2) 13 GACCCTGGAGCAGCACAAGGG 0.642000 5 28 0.184627 0.185241 1 1 0 TRPM4 54795 broad.mit.edu 37 19 49671869 49671869 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:49671869C>T ENST00000252826.5 + 6 798 c.672C>T c.(670-672)ccC>ccT p.P224P TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000427978.2_Silent_p.P224P NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 224 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) TCCAGTTTCCCCTGGACTACA 0.652000 12 32 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579312 7579312 + Splice_Site SNP C C A rs55863639 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr17:7579312C>A ENST00000420246.2 - 4 507 c.375_splice c.e4+1 p.T125_splice TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 125 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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) GGCAACTGACCGTGCAAGTCA 0.537000 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) 36 40 2.75727e-19 4.17392e-19 1 1 0 CLEC4G 339390 broad.mit.edu 37 19 7794707 7794707 + Splice_Site SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:7794707C>T ENST00000328853.5 - 8 811 c.743_splice c.e8+1 p.S248_splice NM_001244856.1|NM_198492.3 NP_001231785.1|NP_940894.1 Q6UXB4 CLC4G_HUMAN C-type lectin domain family 4, member G 248 C-type lectin. integral to membrane protein binding|sugar binding breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1) 6 TTTCCCTCACCTGAAGCTGAG 0.622000 24 21 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9459603 9459603 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr20:9459603C>A ENST00000378501.2 + 36 3547 c.3532C>A c.(3532-3534)Cga>Aga p.R1178R PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.A1177A|PLCB4_ENST00000378493.1_Silent_p.A1165A|PLCB4_ENST00000414679.2_Silent_p.A1177A|PLCB4_ENST00000334005.3_Silent_p.R1178R|PLCB4_ENST00000278655.4_Silent_p.A1165A NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 0 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AATTGGAAGCCGAGATGGACC 0.443000 6 24 8.12818e-05 8.8778e-05 1 1 0 ZNF10 7556 broad.mit.edu 37 12 133732504 133732504 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:133732504C>T ENST00000248211.6 + 5 894 c.672C>T c.(670-672)caC>caT p.H224H CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Silent_p.H224H|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Intron NM_015394.4 NP_056209.2 P21506 ZNF10_HUMAN zinc finger protein 10 224 Missing (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) AAAACATTCACCTTATTCAGT 0.348000 11 50 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94046493 94046493 + Splice_Site SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr14:94046493A>T ENST00000553484.1 + 19 2587 c.e19-1 UNC79_ENST00000393151.2_Splice_Site|UNC79_ENST00000256339.4_Splice_Site|UNC79_ENST00000555664.1_Splice_Site Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GATGTCTTTCAGATGGAGTTA 0.398000 25 31 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174781 150174781 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:150174781G>T ENST00000307271.3 + 5 2485 c.1911G>T c.(1909-1911)caG>caT p.Q637H NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 637 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CCCATACACAGGAGAACGTCA 0.423000 32 76 4.66903e-05 5.15556e-05 1 1 0 CATSPER3 347732 broad.mit.edu 37 5 134345148 134345148 + Nonsense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:134345148C>T ENST00000282611.6 + 6 990 c.904C>T c.(904-906)Cag>Tag p.Q302* NM_178019.2 NP_821138.1 Q86XQ3 CTSR3_HUMAN cation channel, sperm associated 3 302 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCAGCGGCAGCAGGAGGAGAT 0.562000 12 63 0 0 1 0 0 FAF1 11124 broad.mit.edu 37 1 51005287 51005287 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:51005287T>C ENST00000396153.2 - 14 1833 c.1382A>G c.(1381-1383)aAt>aGt p.N461S FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Missense_Mutation_p.N461S|FAF1_ENST00000545823.1_Missense_Mutation_p.N219S NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 461 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.0?(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) CAACACTTCATTAGATGATCG 0.398000 9 33 0 0 1 0 0 KLK6 5653 broad.mit.edu 37 19 51466763 51466763 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:51466763C>A ENST00000376851.3 - 4 679 c.240G>T c.(238-240)agG>agT p.R80S KLK6_ENST00000594641.1_Missense_Mutation_p.R80S|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000424910.2_Missense_Mutation_p.G28V|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000310157.2_Missense_Mutation_p.R80S NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 80 Peptidase S1. Cleavage; by autolysis. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) GGGAACTCTCCCTTTGCCGAA 0.582000 4 57 1.76689e-08 2.15162e-08 1 1 0 GPR112 139378 broad.mit.edu 37 X 135405179 135405179 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chrX:135405179G>T ENST00000394143.1 + 5 604 c.313G>T c.(313-315)Gga>Tga p.G105* GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Nonsense_Mutation_p.G105*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.G42* NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 105 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ATACAGATTGGGAAAGACCTT 0.438000 70 44 5.61366e-43 9.41847e-43 1 1 0 COL24A1 255631 broad.mit.edu 37 1 86377098 86377098 + Nonsense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:86377098C>A ENST00000370571.2 - 25 2947 c.2581G>T c.(2581-2583)Gga>Tga p.G861* COL24A1_ENST00000436319.1_Nonsense_Mutation_p.G861* NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 861 Collagen-like 6. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CCAACTTCTCCAGGTAAGCCA 0.343000 37 70 9.88483e-10 1.25429e-09 1 1 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 4 39 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220333962 220333962 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:220333962G>T ENST00000312358.7 + 13 3708 c.3576G>T c.(3574-3576)cgG>cgT p.R1192R SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1192 Ig-like 6. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) ACTTCCTGCGGCCACTGCAGG 0.627000 9 24 0.000274275 0.000293727 1 1 0 KLHL22 84861 broad.mit.edu 37 22 20819800 20819800 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr22:20819800G>C ENST00000328879.4 - 4 613 c.457C>G c.(457-459)Ctc>Gtc p.L153V KLHL22_ENST00000440659.2_Missense_Mutation_p.L10V NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 153 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TAGACATCGAGAATGTTCTCT 0.502000 36 60 0 0 1 0 0 PPP1R16A 84988 broad.mit.edu 37 8 145725977 145725977 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:145725977C>A ENST00000292539.4 + 7 1730 c.813C>A c.(811-813)gcC>gcA p.A271A PPP1R16A_ENST00000435887.1_Silent_p.A271A Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory subunit 16A 271 plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CGCTGCACGCCGCGGCCTACT 0.721000 10 15 2.80697e-09 3.51017e-09 1 1 0 PDGFRB 5159 broad.mit.edu 37 5 149505025 149505025 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:149505025C>A ENST00000261799.4 - 12 2259 c.1790G>T c.(1789-1791)cGg>cTg p.R597L NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 597 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity p.R597Q(1) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) AAGCTGGTCCCGCGGCAGCTC 0.597000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 6 35 0.00116845 0.00123166 1 1 0 KEAP1 9817 broad.mit.edu 37 19 10602767 10602767 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:10602767C>A ENST00000171111.5 - 3 1358 c.811G>T c.(811-813)Gtg>Ttg p.V271L KEAP1_ENST00000393623.2_Missense_Mutation_p.V271L|KEAP1_ENST00000588024.1_5'UTR NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 271 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TGGCAGCGCACGGCCCGCAGC 0.617000 24 25 1.1804e-14 1.68151e-14 1 1 0 FAT1 2195 broad.mit.edu 37 4 187525712 187525712 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:187525712C>A ENST00000441802.2 - 18 10576 c.10367G>T c.(10366-10368)gGc>gTc p.G3456V NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3456 Cadherin 32. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CACGCTGAAGCCCACTGGCTT 0.398000 HNSCC(5;0.00058) 4 15 0.00909568 0.0093911 1 1 0 TM2D3 80213 broad.mit.edu 37 15 102191914 102191914 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr15:102191914C>A ENST00000333202.3 - 2 159 c.154G>T c.(154-156)Gtt>Ttt p.V52F TM2D3_ENST00000347970.3_Intron|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000559107.1_Missense_Mutation_p.V52F NM_078474.2 NP_510883.2 Q9BRN9 TM2D3_HUMAN TM2 domain containing 3 52 integral to membrane central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1) 10 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GCCCTGGGAACTACTGTGAAT 0.388000 24 110 3.01185e-09 3.75084e-09 1 1 0 PTPRT 11122 broad.mit.edu 37 20 40790168 40790168 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr20:40790168C>A ENST00000373198.3 - 18 2807 c.2572G>T c.(2572-2574)Ggg>Tgg p.G858W PTPRT_ENST00000356100.2_Missense_Mutation_p.G845W|PTPRT_ENST00000373201.1_Missense_Mutation_p.G826W|PTPRT_ENST00000373187.1_Missense_Mutation_p.G836W|PTPRT_ENST00000373193.3_Missense_Mutation_p.G839W|PTPRT_ENST00000373184.1_Missense_Mutation_p.G826W|PTPRT_ENST00000373190.1_Missense_Mutation_p.G835W NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 836 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.S856fs*21(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GAAAGCTCCCCGCGGCTGCCA 0.592000 25 55 7.87624e-14 1.11151e-13 1 1 0 VWA3B 200403 broad.mit.edu 37 2 98744862 98744862 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:98744862C>A ENST00000477737.1 + 6 1067 c.863C>A c.(862-864)aCc>aAc p.T288N VWA3B_ENST00000435344.1_Missense_Mutation_p.T288N|VWA3B_ENST00000451075.2_Missense_Mutation_p.T138N NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 288 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 AGTGCCAAGACCCACAGCAGG 0.522000 21 30 3.62473e-10 4.65817e-10 1 1 0 COPA 1314 broad.mit.edu 37 1 160283840 160283840 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:160283840T>A ENST00000241704.7 - 9 1011 c.782A>T c.(781-783)cAa>cTa p.Q261L COPA_ENST00000368069.3_Missense_Mutation_p.Q261L NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 261 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GATCAACTCTTGGCGAGGGTG 0.463000 30 29 0 0 1 0 0 HIST3H3 8290 broad.mit.edu 37 1 228612708 228612708 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:228612708C>T ENST00000366696.1 - 1 318 c.319G>A c.(319-321)Gac>Aac p.D107N NM_003493.2 NP_003484.1 Q16695 H31T_HUMAN histone cluster 3, H3 107 nucleosome assembly|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(1)|lung(2)|prostate(2)|skin(1) 6 Prostate(94;0.0724) AGGTTGGTGTCCTCAAACAGC 0.617000 15 77 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26446316 26446316 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:26446316G>C ENST00000265944.5 + 26 3037 c.2871G>C c.(2869-2871)gaG>gaC p.E957D MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 957 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CAAATAGTGAGCGTCAGGCAA 0.398000 19 46 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57573272 57573272 + Silent SNP C C T rs141892093 byFrequency TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:57573272C>T ENST00000243077.3 + 29 5365 c.4899C>T c.(4897-4899)gaC>gaT p.D1633D NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1633 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ACTGGTCTGACGTGCGGACAC 0.592000 18 46 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48232097 48232097 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr16:48232097C>T ENST00000394747.1 - 15 2521 c.2172G>A c.(2170-2172)ggG>ggA p.G724G ABCC11_ENST00000356608.2_Silent_p.G724G|ABCC11_ENST00000353782.5_Silent_p.G724G|ABCC11_ENST00000394748.1_Silent_p.G724G|ABCC11_ENST00000537808.1_Silent_p.G724G NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 724 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GGGCATATTTCCCCTTTTTCT 0.473000 36 38 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12725670 12725670 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chrX:12725670T>A ENST00000380682.1 + 13 1876 c.1370T>A c.(1369-1371)cTg>cAg p.L457Q NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 457 FERM. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 AAAACCAATCTGGTGGCTCTT 0.512000 46 34 0 0 1 0 0 REXO1 57455 broad.mit.edu 37 19 1827787 1827787 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:1827787A>G ENST00000170168.4 - 2 1095 c.1001T>C c.(1000-1002)cTg>cCg p.L334P REXO1_ENST00000587524.1_5'UTR NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 334 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTCTCCCGCAGGCCGCCCCC 0.726000 6 4 0 0 1 0 0 IL3RA 3563 broad.mit.edu 37 X 1471285 1471285 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chrX:1471285G>A ENST00000331035.4 + 6 851 c.502G>A c.(502-504)Gat>Aat p.D168N IL3RA_ENST00000381469.2_Missense_Mutation_p.D90N NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 168 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GTGTCGTTTCGATGACATCTC 0.557000 68 79 0 0 1 0 0 CLEC2L 154790 broad.mit.edu 37 7 139225158 139225158 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:139225158A>T ENST00000422142.2 + 3 429 c.357A>T c.(355-357)agA>agT p.R119S NM_001080511.2 NP_001073980.2 P0C7M8 CLC2L_HUMAN C-type lectin domain family 2, member L 119 C-type lectin. integral to membrane sugar binding NS(1)|endometrium(1)|kidney(2)|lung(1) 5 Melanoma(164;0.233) AGGAACCCAGAGACTGGAACA 0.602000 4 11 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141812830 141812830 + Splice_Site SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:141812830T>A ENST00000389484.3 - 10 2380 c.e10-2 NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.?(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGCTTCTGACTACAACAAATA 0.398000 TSP Lung(27;0.18) 14 35 0 0 1 0 0 HRASLS 57110 broad.mit.edu 37 3 192973578 192973578 + Splice_Site SNP G G T rs149064282 byFrequency TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:192973578G>T ENST00000264735.2 + 2 548 c.454_splice c.e2+1 p.D152_splice HRASLS_ENST00000602513.1_Splice_Site_p.D47_splice NM_020386.4 NP_065119.2 Q9HDD0 HRSL1_HUMAN HRAS-like suppressor 47 breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 10 all_cancers(143;9.1e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000159) AGCACCTGTAGGTGAGGTTTA 0.448000 54 57 3.73128e-16 5.43059e-16 1 1 0 KIAA1462 57608 broad.mit.edu 37 10 30318686 30318686 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:30318686G>T ENST00000375377.1 - 3 492 c.391C>A c.(391-393)Cac>Aac p.H131N NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 131 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 AGGTTTTCGTGCTCCCTCGGC 0.607000 27 112 7.92952e-12 1.06196e-11 1 1 0 SYMPK 8189 broad.mit.edu 37 19 46332379 46332379 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:46332379C>T ENST00000245934.7 - 14 2078 c.1834G>A c.(1834-1836)Gtg>Atg p.V612M NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 612 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CGGGCCCGCACATCCTCCAGG 0.637000 37 51 0 0 1 0 0 IMPAD1 54928 broad.mit.edu 37 8 57905851 57905851 + Silent SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:57905851C>G ENST00000262644.4 - 1 552 c.294G>C c.(292-294)acG>acC p.T98T NM_017813.4 NP_060283.3 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 98 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) CTCCCTCGCGCGTCTTCCCCT 0.657000 11 18 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144997430 144997430 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:144997430G>A ENST00000322810.4 - 31 7247 c.7078C>T c.(7078-7080)Cgc>Tgc p.R2360C PLEC_ENST00000354958.2_Missense_Mutation_p.R2201C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2209C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2250C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2227C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2223C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2246C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2223C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2191C NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2360 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ACCTGGCTGCGCTGGCGTGCG 0.652000 5 32 0 0 1 0 0 NPAT 4863 broad.mit.edu 37 11 108057231 108057231 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:108057231G>A ENST00000278612.8 - 8 809 c.704C>T c.(703-705)cCa>cTa p.P235L NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 235 Interaction with MIZF. positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) AAAAGCGTTTGGATCTTGGAA 0.328000 29 44 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48801538 48801538 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:48801538C>A ENST00000315396.7 - 11 1871 c.1189G>T c.(1189-1191)Ggg>Tgg p.G397W NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 397 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) GTCTTGACCCCAAGGAGGTCA 0.602000 12 71 0.00010058 0.000109263 1 1 0 C11orf84 144097 broad.mit.edu 37 11 63594606 63594606 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:63594606G>T ENST00000294244.4 + 6 1440 c.1141G>T c.(1141-1143)Gtg>Ttg p.V381L NM_138471.1 NP_612480.1 Q9BUA3 CK084_HUMAN chromosome 11 open reading frame 84 381 endometrium(3)|kidney(1)|lung(3)|skin(1) 8 AGGGAATGGAGTGTAAATTCT 0.587000 19 21 5.35267e-07 6.20539e-07 1 1 0 TRPM2 7226 broad.mit.edu 37 21 45784046 45784046 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr21:45784046G>T ENST00000397928.1 + 3 749 c.304G>T c.(304-306)Gct>Tct p.A102S TRPM2_ENST00000300481.9_Missense_Mutation_p.A102S|TRPM2_ENST00000300482.5_Missense_Mutation_p.A102S|TRPM2_ENST00000397932.2_Missense_Mutation_p.A102S NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 102 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CTTGGAGGAGGCTACCAAGCC 0.587000 4 45 0.00909568 0.0093911 1 1 0 MIR520H 574493 broad.mit.edu 37 19 54245850 54245850 + RNA SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr19:54245850G>C ENST00000385126.1 + 0 85 NR_030215.1 GTTACTGTTTGGGAAAAGCAG 0.403000 13 47 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32029263 32029263 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr6:32029263C>A ENST00000375244.3 - 21 7604 c.7403G>T c.(7402-7404)gGc>gTc p.G2468V TNXB_ENST00000375247.2_Missense_Mutation_p.G2468V P22105 TENX_HUMAN tenascin XB 2528 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AGGCTCCAGGCCCCCCACGGT 0.687000 59 43 3.53049e-34 5.82627e-34 1 1 0 PDE6B 5158 broad.mit.edu 37 4 647648 647648 + Translation_Start_Site SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:647648T>A ENST00000429163.2 + 0 148 RP11-1191J2.2_ENST00000468356.1_RNA|RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000496514.1_Missense_Mutation_p.L240Q|PDE6B_ENST00000255622.6_Missense_Mutation_p.L240Q NM_001145292.1 NP_001138764.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CAGGTGCTGCTGTGGTCGGCC 0.622000 3 44 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103432 53103432 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:53103432T>C ENST00000408890.4 + 1 84 c.68T>C c.(67-69)cTg>cCg p.L23P NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 23 p.L23R(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GAACCCCTGCTGCAAGGCCCC 0.711000 9 16 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237780595 237780595 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:237780595C>A ENST00000366574.2 + 38 6042 c.5725C>A c.(5725-5727)Ctg>Atg p.L1909M RYR2_ENST00000542537.1_Missense_Mutation_p.L1893M|RYR2_ENST00000360064.6_Missense_Mutation_p.L1907M NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1909 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GATGTGCCTACTGCTTCAGTA 0.388000 3 23 0.004672 0.00487373 1 1 0 CCDC108 255101 broad.mit.edu 37 2 219895442 219895442 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:219895442T>A ENST00000341552.5 - 9 1213 c.1130A>T c.(1129-1131)gAg>gTg p.E377V CCDC108_ENST00000453220.1_Missense_Mutation_p.E377V|CCDC108_ENST00000410037.1_Missense_Mutation_p.E312V|CCDC108_ENST00000441968.1_Missense_Mutation_p.E377V|CCDC108_ENST00000409865.3_Missense_Mutation_p.E366V NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 377 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GATCTGCCTCTCCGAGGTGCA 0.602000 13 43 0 0 1 0 0 ASIC4 55515 broad.mit.edu 37 2 220379409 220379409 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:220379409G>C ENST00000358078.4 + 1 358 c.344G>C c.(343-345)gGc>gCc p.G115A AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000347842.3_Missense_Mutation_p.G115A Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 115 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity GAGGGACAGGGCAGGGAGGCT 0.612000 5 33 0 0 1 0 0 HTR6 3362 broad.mit.edu 37 1 19992542 19992542 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:19992542G>T ENST00000289753.1 + 1 763 c.296G>T c.(295-297)tGc>tTc p.C99F NM_000871.1 NP_000862.1 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled 99 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) CGCGGCCTCTGCCTGCTCTGG 0.667000 20 43 1.56452e-12 2.12832e-12 1 1 0 TRAV8-6 28680 broad.mit.edu 37 14 22446888 22446888 + RNA SNP C C T rs2075483 by1000genomes TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr14:22446888C>T ENST00000390443.3 + 0 190 CCGCCCAGCTCAAGGTCCTGC 0.532000 OREG0022573 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 84 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83933226 83933226 + Silent SNP T T C rs138172246 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr15:83933226T>C ENST00000345382.2 - 4 862 c.777A>G c.(775-777)tcA>tcG p.S259S BNC1_ENST00000569704.1_Silent_p.S252S|RP11-382A20.4_ENST00000565495.1_RNA NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 259 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 GTTCGGGCAATGACCCTATCA 0.502000 15 66 0 0 1 0 0 LHFPL4 375323 broad.mit.edu 37 3 9594069 9594069 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:9594069C>A ENST00000287585.6 - 2 580 c.295G>T c.(295-297)Gtg>Ttg p.V99L NM_198560.2 NP_940962.1 Q7Z7J7 LHPL4_HUMAN lipoma HMGIC fusion partner-like 4 99 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1) 10 Medulloblastoma(99;0.227) GAGAGCAGCACGAAGAAGGCG 0.632000 17 34 3.52763e-06 4.02017e-06 1 1 0 SORL1 6653 broad.mit.edu 37 11 121489536 121489536 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:121489536G>T ENST00000260197.7 + 42 5787 c.5658G>T c.(5656-5658)aaG>aaT p.K1886N SORL1_ENST00000532694.1_Missense_Mutation_p.K732N|SORL1_ENST00000525532.1_Missense_Mutation_p.K830N|SORL1_ENST00000527934.1_Missense_Mutation_p.K501N|SORL1_ENST00000534286.1_Missense_Mutation_p.K796N NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1886 Fibronectin type-III 4. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GCAACCCGAAGAGCTTGACTA 0.443000 116 141 9.06123e-46 1.52877e-45 1 1 0 CEP70 80321 broad.mit.edu 37 3 138244343 138244343 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:138244343C>T ENST00000264982.3 - 11 1199 c.933G>A c.(931-933)aaG>aaA p.K311K CEP70_ENST00000542237.1_Silent_p.K291K|CEP70_ENST00000489254.1_Silent_p.K159K|CEP70_ENST00000484888.1_Silent_p.K311K|CEP70_ENST00000481834.1_Silent_p.K311K NM_024491.2 NP_077817.2 Q8NHQ1 CEP70_HUMAN centrosomal protein 70kDa 311 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 TGACGTTTTTCTTAAGGGCTT 0.229000 7 42 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940853 144940853 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:144940853G>C ENST00000525985.1 - 2 6640 c.6569C>G c.(6568-6570)gCc>gGc p.A2190G P58107 EPIPL_HUMAN epiplakin 1 2190 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGTGATTATGGCTGAGCTGAG 0.542000 26 287 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50139753 50139753 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr20:50139753G>A ENST00000371564.3 - 2 1246 c.1027C>T c.(1027-1029)Cgc>Tgc p.R343C NFATC2_ENST00000396009.3_Missense_Mutation_p.R343C|NFATC2_ENST00000414705.1_Missense_Mutation_p.R323C NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 343 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TAGATGTGGCGAGGCAGGCCG 0.682000 44 75 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178418879 178418879 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:178418879G>A ENST00000231188.5 - 2 888 c.710C>T c.(709-711)tCc>tTc p.S237F GRM6_ENST00000517717.1_Missense_Mutation_p.S237F NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 237 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) AGCCTCTCGGGAGATCTGAAC 0.622000 9 31 0 0 1 0 0 CHRNA2 1135 broad.mit.edu 37 8 27320915 27320915 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:27320915C>T ENST00000407991.1 - 6 1653 c.1045G>A c.(1045-1047)Gtg>Atg p.V349M CHRNA2_ENST00000240132.2_Missense_Mutation_p.V334M|CHRNA2_ENST00000520933.2_Missense_Mutation_p.V349M NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 349 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) ACATTGAGCACGAAGACGGTG 0.627000 14 80 0 0 1 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55065337 55065337 + RNA SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:55065337G>T ENST00000526016.1 - 0 371 NR_038174.2 TCACTTACCCGGCGTTCCTCA 0.483000 9 33 5.68852e-11 7.48555e-11 1 1 0 GLDN 342035 broad.mit.edu 37 15 51689763 51689763 + Missense_Mutation SNP G G T rs143383924 byFrequency TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr15:51689763G>T ENST00000335449.6 + 6 841 c.785G>T c.(784-786)cGg>cTg p.R262L GLDN_ENST00000396399.2_Missense_Mutation_p.R138L NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 262 Pro-rich. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) AAAGGCCCTCGGCAGCCAAGC 0.642000 5 29 0.014758 0.0150571 1 1 0 EFHB 151651 broad.mit.edu 37 3 19975305 19975305 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:19975305C>A ENST00000295824.9 - 1 367 c.206G>T c.(205-207)gGg>gTg p.G69V EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 69 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 CATTTCAAGCCCCTTGCTCAA 0.458000 34 79 1.62565e-12 2.2065e-12 1 1 0 RB1 5925 broad.mit.edu 37 13 48947629 48947629 + Splice_Site SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr13:48947629G>T ENST00000267163.4 + 12 1353 c.e12+1 NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 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.?(23)|p.0?(15) 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) CTATTTTAACGTAAGCCATAT 0.279000 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) 28 53 1.04121e-07 1.23554e-07 1 1 0 TENM3 55714 broad.mit.edu 37 4 183714045 183714045 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr4:183714045G>T ENST00000511685.1 + 26 6343 c.6220G>T c.(6220-6222)Gta>Tta p.V2074L TENM3_ENST00000406950.2_Missense_Mutation_p.V2074L teneurin transmembrane protein 3 TTCTACAGCTGTAATGACCTA 0.358000 18 25 1.02788e-11 1.37051e-11 1 1 0 FZD1 8321 broad.mit.edu 37 7 90895895 90895895 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:90895895G>T ENST00000287934.2 + 1 2113 c.1700G>T c.(1699-1701)cGc>cTc p.R567L NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 567 autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CAGTGGGAACGCAGCTGGGTG 0.667000 16 33 1.15088e-07 1.34977e-07 1 1 0 ZNF569 148266 broad.mit.edu 37 19 37904008 37904008 + Nonsense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:37904008C>A ENST00000316950.6 - 6 2109 c.1552G>T c.(1552-1554)Gga>Tga p.G518* ZNF569_ENST00000392149.2_Nonsense_Mutation_p.G518*|ZNF569_ENST00000392150.2_Nonsense_Mutation_p.G359* NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 518 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGTTTCTCTCCAGTATGAACT 0.368000 41 71 1.30998e-17 1.97152e-17 1 1 0 ZNF638 27332 broad.mit.edu 37 2 71633387 71633387 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:71633387A>T ENST00000409544.1 + 19 3760 c.3130A>T c.(3130-3132)Aac>Tac p.N1044Y ZNF638_ENST00000355812.3_Missense_Mutation_p.N1044Y|ZNF638_ENST00000264447.4_Missense_Mutation_p.N1044Y NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1044 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 AAGTAATAGAAACAAGGTAAC 0.353000 8 52 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21894003 21894003 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:21894003G>C ENST00000328843.6 + 69 11184 c.11153G>C c.(11152-11154)aGa>aCa p.R3718T DNAH11_ENST00000409508.3_Missense_Mutation_p.R3711T Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3718 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GTGGCAGCAAGAGCATCTCTT 0.378000 Kartagener syndrome 14 23 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64167308 64167308 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:64167308T>C ENST00000395391.1 + 4 2001 c.626T>C c.(625-627)aTt>aCt p.I209T ZNF107_ENST00000423627.1_Missense_Mutation_p.I209T|ZNF107_ENST00000344930.3_Missense_Mutation_p.I209T Q9UII5 ZN107_HUMAN zinc finger protein 107 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) CATAAAATAATTCATACTGGA 0.373000 4 64 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142569468 142569468 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:142569468G>C ENST00000359396.3 - 15 2415 c.2170C>G c.(2170-2172)Cag>Gag p.Q724E NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 724 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) AGTCAGATCTGATATTCCCAG 0.522000 15 53 0 0 1 0 0 ASB5 140458 broad.mit.edu 37 4 177143572 177143572 + Splice_Site SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:177143572C>A ENST00000296525.3 - 3 390 c.e3-1 ASB5_ENST00000512254.1_Splice_Site|ASB5_ENST00000511879.1_Splice_Site NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) CATTATAACCCTAAATGTGGC 0.393000 4 45 0.014758 0.0150327 1 1 0 PCDHB11 56125 broad.mit.edu 37 5 140579376 140579376 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:140579376A>G ENST00000354757.3 + 1 29 c.29A>G c.(28-30)cAg>cGg p.Q10R PCDHB11_ENST00000536699.1_5'UTR NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 10 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.Q10L(1) NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCACTCAGCAGATAAGGCAA 0.507000 18 39 0 0 1 0 0 LONP2 83752 broad.mit.edu 37 16 48292536 48292536 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr16:48292536A>G ENST00000285737.4 + 4 701 c.608A>G c.(607-609)gAt>gGt p.D203G LONP2_ENST00000535754.1_Missense_Mutation_p.D159G NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 203 Lon. misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TAGATTTTAGATGCTGTGAGC 0.398000 15 29 0 0 1 0 0 PDE8B 8622 broad.mit.edu 37 5 76621413 76621413 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:76621413G>T ENST00000264917.5 + 3 494 c.449G>T c.(448-450)tGg>tTg p.W150L PDE8B_ENST00000333194.4_Missense_Mutation_p.W150L|PDE8B_ENST00000342343.4_Missense_Mutation_p.W130L|PDE8B_ENST00000346042.3_Missense_Mutation_p.W150L|PDE8B_ENST00000340978.3_Missense_Mutation_p.W150L NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 150 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) GGCTTCTGGTGGGCCTGCGAC 0.413000 19 101 1.33834e-09 1.68552e-09 1 1 0 C9orf3 84909 broad.mit.edu 37 9 97717496 97717496 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr9:97717496G>T ENST00000375315.2 + 7 1699 c.1699G>T c.(1699-1701)Gga>Tga p.G567* C9orf3_ENST00000297979.5_Nonsense_Mutation_p.G468* NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 567 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) AAGTGACTCGGGAGCATCTGT 0.373000 17 25 1.67942e-08 2.06328e-08 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113249468 113249468 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:113249468C>A ENST00000297405.5 - 67 10822 c.10578G>T c.(10576-10578)ggG>ggT p.G3526G CSMD3_ENST00000352409.3_Silent_p.G3456G|CSMD3_ENST00000343508.3_Silent_p.G3486G|CSMD3_ENST00000455883.2_Silent_p.G3357G NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3526 integral to membrane|plasma membrane 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 CGTTAACTCTCCCAGTGGAAG 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 35 99 8.73648e-17 1.28906e-16 1 1 0 DMBX1 127343 broad.mit.edu 37 1 46977961 46977961 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:46977961T>A ENST00000371956.4 + 4 959 c.944T>A c.(943-945)cTg>cAg p.L315Q DMBX1_ENST00000360032.3_Missense_Mutation_p.L310Q NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 315 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) CTGGGCTCACTGCACTGCCAG 0.682000 22 39 0 0 1 0 0 CAPS2 84698 broad.mit.edu 37 12 75706659 75706659 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:75706659C>G ENST00000409445.3 - 8 881 c.685G>C c.(685-687)Gca>Cca p.A229P CAPS2_ENST00000393284.3_5'UTR|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.A179P NM_032606.3 NP_115995.2 Q9BXY5 CAYP2_HUMAN calcyphosine 2 229 calcium ion binding endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 ACTTGCTCTGCAACAATCTGT 0.343000 18 33 0 0 1 0 0 MATN2 4147 broad.mit.edu 37 8 98943569 98943569 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:98943569G>T ENST00000254898.5 + 3 762 c.531G>T c.(529-531)gtG>gtT p.V177V MATN2_ENST00000520016.1_Silent_p.V177V|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Silent_p.V177V|MATN2_ENST00000521689.1_Silent_p.V177V NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 177 VWFA 1. proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) AGGACTCCGTGGCCGAGGTGG 0.577000 11 37 4.68919e-08 5.62329e-08 1 1 0 FAM175A 84142 broad.mit.edu 37 4 84393381 84393381 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:84393381G>A ENST00000321945.7 - 4 384 c.276C>T c.(274-276)gtC>gtT p.V92V FAM175A_ENST00000505489.1_5'UTR|FAM175A_ENST00000506553.1_Silent_p.V43V NM_139076.2 NP_620775.2 Q6UWZ7 F175A_HUMAN family with sequence similarity 175, member A 92 MPN-like. chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation BRCA1-A complex polyubiquitin binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 13 ATACCTTTTTGACATTTGATA 0.284000 4 0 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30706075 30706075 + Silent SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:30706075A>G ENST00000256246.2 - 1 533 c.459T>C c.(457-459)ggT>ggC p.G153G NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 153 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AGGAAAAATTACCTTGGTCCT 0.453000 39 92 0 0 1 0 0 ZNF345 25850 broad.mit.edu 37 19 37367788 37367788 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:37367788A>T ENST00000529555.1 + 2 844 c.56A>T c.(55-57)gAa>gTa p.E19V ZNF345_ENST00000420450.1_Missense_Mutation_p.E19V|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.E19V|ZNF345_ENST00000432005.2_Intron Q14585 ZN345_HUMAN zinc finger protein 345 19 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding p.E19G(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGTGATTGGGAATGTAAAAAC 0.368000 42 81 0 0 1 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819926 50819926 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:50819926C>T ENST00000374115.3 + 1 1580 c.1140C>T c.(1138-1140)ttC>ttT p.F380F CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 380 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity p.F380F(1) endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 GCCGCTCCTTCGCGCCGCTAG 0.677000 7 25 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63726726 63726726 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:63726726C>A ENST00000421025.1 + 5 984 c.715C>A c.(715-717)Ccc>Acc p.P239T ZNF679_ENST00000255746.4_Missense_Mutation_p.P239T NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 TGGAGAGAAACCCTACAGATG 0.408000 8 31 5.18039e-06 5.89527e-06 1 1 0 CLEC6A 93978 broad.mit.edu 37 12 8628779 8628779 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:8628779C>A ENST00000382073.3 + 5 614 c.428C>A c.(427-429)cCa>cAa p.P143Q NM_001007033.1 NP_001007034.1 Q6EIG7 CLC6A_HUMAN C-type lectin domain family 6, member A 143 C-type lectin. defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1)|large_intestine(2)|lung(7) 10 Lung SC(5;0.184) ctttcagacccacaaggtaat 0.383000 16 86 1.99824e-07 2.33128e-07 1 1 0 NCDN 23154 broad.mit.edu 37 1 36026118 36026118 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:36026118C>A ENST00000373243.2 + 3 749 c.366C>A c.(364-366)gcC>gcA p.A122A NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000356090.4_Silent_p.A122A|NCDN_ENST00000373253.3_Silent_p.A105A NM_014284.2 NP_055099.1 Q9UBB6 NCDN_HUMAN neurochondrin 122 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AACTGGCCGCCCATCCCCAAG 0.627000 33 165 8.4185e-14 1.18134e-13 1 1 0 ACSM2B 348158 broad.mit.edu 37 16 20554325 20554325 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr16:20554325C>T ENST00000329697.6 - 12 1588 c.1420G>A c.(1420-1422)Gga>Aga p.G474R ACSM2B_ENST00000565232.1_Missense_Mutation_p.G474R|ACSM2B_ENST00000565322.1_Missense_Mutation_p.G395R|ACSM2B_ENST00000567001.1_Missense_Mutation_p.G474R NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 474 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TCCGAGGGTCCAATCCGGTAC 0.567000 9 105 0 0 1 0 0 STX11 8676 broad.mit.edu 37 6 144508475 144508475 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr6:144508475G>A ENST00000367568.4 + 2 894 c.711G>A c.(709-711)aaG>aaA p.K237K NM_003764.3 NP_003755.2 O75558 STX11_HUMAN syntaxin 11 237 t-SNARE coiled-coil homology. cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) TGGTGGAGAAGCAGGCCGACA 0.632000 Familial Hemophagocytic Lymphohistiocytosis 24 10 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94046494 94046494 + Splice_Site SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr14:94046494G>A ENST00000553484.1 + 19 2587 c.e19-1 UNC79_ENST00000393151.2_Splice_Site|UNC79_ENST00000256339.4_Splice_Site|UNC79_ENST00000555664.1_Splice_Site Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ATGTCTTTCAGATGGAGTTAC 0.398000 25 31 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33559860 33559860 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:33559860A>T ENST00000228567.3 - 3 1237 c.941T>A c.(940-942)cTa>cAa p.L314Q SYT10_ENST00000535526.1_Missense_Mutation_p.L133Q NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 314 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) ACTGAAATGTAGTTTTCGGTT 0.358000 31 51 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102376422 102376422 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr6:102376422C>A ENST00000369138.1 + 13 2490 c.2000C>A c.(1999-2001)cCt>cAt p.P667H GRIK2_ENST00000421544.1_Missense_Mutation_p.P667H|GRIK2_ENST00000318991.6_Missense_Mutation_p.P667H|GRIK2_ENST00000413795.1_Missense_Mutation_p.P667H|GRIK2_ENST00000369134.4_Missense_Mutation_p.P618H|GRIK2_ENST00000369137.3_Missense_Mutation_p.P591H NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 667 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) atggaatcccctattgactct 0.423000 37 28 4.65686e-17 6.93919e-17 1 1 0 AFP 174 broad.mit.edu 37 4 74308073 74308073 + Nonsense_Mutation SNP G G A rs121912685 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:74308073G>A ENST00000395792.2 + 5 643 c.543G>A c.(541-543)tgG>tgA p.W181* AFP_ENST00000226359.2_Nonsense_Mutation_p.W181* NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 181 Albumin 1. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTCTTCTTTGGGCTGCTCGCT 0.373000 Alpha-Fetoprotein, Hereditary Persistence of 15 51 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56483287 56483287 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr6:56483287T>C ENST00000370765.6 - 23 5652 c.5545A>G c.(5545-5547)Atg>Gtg p.M1849V DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1264 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGTTGGTCCATTTTTTGCTTC 0.408000 23 103 0 0 1 0 0 C6orf106 64771 broad.mit.edu 37 6 34614531 34614531 + Nonsense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr6:34614531C>A ENST00000374023.3 - 3 601 c.358G>T c.(358-360)Gga>Tga p.G120* C6orf106_ENST00000374026.3_Intron|C6orf106_ENST00000374021.1_Nonsense_Mutation_p.G46* NM_024294.2 NP_077270.1 Q9H6K1 CF106_HUMAN chromosome 6 open reading frame 106 120 endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 AATTGGTCTCCCCCGACATAT 0.517000 83 105 2.00703e-41 3.35619e-41 1 1 0 MUC2 4583 broad.mit.edu 37 11 1099771 1099771 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:1099771G>T ENST00000441003.2 + 40 7395 c.7368G>T c.(7366-7368)gtG>gtT p.V2456V NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4818 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TAGGCTGTGTGGGACCTGACA 0.572000 26 40 2.44723e-14 3.47461e-14 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113276039 113276039 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:113276039C>A ENST00000297405.5 - 61 9935 c.9691G>T c.(9691-9693)Gtt>Ttt p.V3231F CSMD3_ENST00000352409.3_Missense_Mutation_p.V3161F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3191F|CSMD3_ENST00000455883.2_Missense_Mutation_p.V3062F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3231 Sushi 25. integral to membrane|plasma membrane 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 GGGCAGGTAACAGCTGCAATT 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 18 44 1.67942e-08 2.06328e-08 1 1 0 KDM6A 7403 broad.mit.edu 37 X 44929567 44929567 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chrX:44929567A>G ENST00000377967.4 + 17 2708 c.2667A>G c.(2665-2667)atA>atG p.I889M KDM6A_ENST00000543216.1_Missense_Mutation_p.I810M|KDM6A_ENST00000536777.1_Missense_Mutation_p.I844M|KDM6A_ENST00000382899.4_Missense_Mutation_p.I896M NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 889 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 CTGTGTCCATATACCCCAGCT 0.438000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 14 6 0 0 1 0 0 SERPINE1 5054 broad.mit.edu 37 7 100779054 100779054 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:100779054G>T ENST00000223095.4 + 7 1216 c.1059G>T c.(1057-1059)gaG>gaT p.E353D SERPINE1_ENST00000445463.2_Missense_Mutation_p.E338D NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 353 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) AGGTGAACGAGAGTGGCACGG 0.592000 9 38 1.12685e-05 1.27034e-05 1 1 0 KDM2A 22992 broad.mit.edu 37 11 67020928 67020928 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:67020928G>A ENST00000529006.2 + 19 3383 c.2937G>A c.(2935-2937)ctG>ctA p.L979L KDM2A_ENST00000530342.1_Silent_p.L540L|KDM2A_ENST00000308783.5_Silent_p.L437L|KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000526258.1_3'UTR NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 979 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 TTGCAGGACTGAAAGACCTCC 0.517000 63 126 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134073595 134073595 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:134073595G>T ENST00000264360.4 + 1 3126 c.2300G>T c.(2299-2301)gGt>gTt p.G767V NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 767 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GGTGGCGGAGGTTCGACCTGC 0.587000 7 30 1.06961e-07 1.26753e-07 1 1 0 CNTN5 53942 broad.mit.edu 37 11 99932018 99932018 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:99932018C>G ENST00000524871.1 + 10 1345 c.1055C>G c.(1054-1056)gCg>gGg p.A352G CNTN5_ENST00000418526.2_Missense_Mutation_p.A278G|CNTN5_ENST00000527185.1_Missense_Mutation_p.A352G|CNTN5_ENST00000279463.3_Missense_Mutation_p.A352G|CNTN5_ENST00000528682.1_Missense_Mutation_p.A352G NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 352 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding p.A352V(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AAATCTCAGGCGGTGCTGGAA 0.433000 8 113 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558992 140558992 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:140558992G>T ENST00000239444.2 + 1 1622 c.1377G>T c.(1375-1377)ctG>ctT p.L459L NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 459 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTACACCCTGTTCGTCCGCG 0.612000 26 125 2.08457e-15 3.00938e-15 1 1 0 ZNF264 9422 broad.mit.edu 37 19 57723702 57723702 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:57723702T>A ENST00000263095.6 + 4 1651 c.1237T>A c.(1237-1239)Tac>Aac p.Y413N ZNF264_ENST00000536056.1_Missense_Mutation_p.Y413N NM_003417.4 NP_003408.1 O43296 ZN264_HUMAN zinc finger protein 264 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 27 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) CCACCGATCCTACCTCAAGAG 0.522000 17 69 0 0 1 0 0 TRIM3 10612 broad.mit.edu 37 11 6477605 6477605 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:6477605G>T ENST00000525074.1 - 6 1745 c.1351C>A c.(1351-1353)Cgt>Agt p.R451S TRIM3_ENST00000537602.1_Missense_Mutation_p.R373S|TRIM3_ENST00000536344.1_Missense_Mutation_p.R332S|TRIM3_ENST00000359518.3_Missense_Mutation_p.R451S|TRIM3_ENST00000345851.3_Missense_Mutation_p.R451S|TRIM3_ENST00000529058.1_Intron NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 451 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGCCTACGCACTGCCTTC 0.642000 19 46 1.56452e-12 2.12606e-12 1 1 0 PRB1 5542 broad.mit.edu 37 12 11506889 11506889 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:11506889G>T ENST00000500254.2 - 3 185 c.148C>A c.(148-150)Ccc>Acc p.P50T PRB1_ENST00000546254.1_Missense_Mutation_p.P50T|PRB1_ENST00000545626.1_Missense_Mutation_p.P50T NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 233 extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) GGAGGTGGGGGGCCCTGGGGC 0.567000 103 60 1.26289e-39 2.10598e-39 1 1 0 IP6K3 117283 broad.mit.edu 37 6 33703157 33703157 + Nonsense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr6:33703157T>A ENST00000451316.1 - 3 632 c.97A>T c.(97-99)Aag>Tag p.K33* IP6K3_ENST00000293756.4_Nonsense_Mutation_p.K33* NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 33 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 TCGTCATACTTCATCACGCTC 0.617000 5 37 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5530472 5530472 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:5530472G>C ENST00000311659.4 - 2 464 c.317C>G c.(316-318)tCt>tGt p.S106C HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 106 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTAGGGACAGAGGCAGCTGG 0.607000 18 44 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70461988 70461988 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:70461988G>A ENST00000503640.1 - 3 1031 c.976C>T c.(976-978)Ctt>Ttt p.L326F UGT2A2_ENST00000457664.2_Missense_Mutation_p.L335F|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000514019.1_Intron|UGT2A1_ENST00000502343.1_Intron|UGT2A1_ENST00000512704.1_Intron NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 326 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 ATCTGGGCAAGGGCTGAGGCA 0.428000 14 43 0 0 1 0 0 ZNF773 374928 broad.mit.edu 37 19 58018104 58018104 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:58018104C>T ENST00000282292.4 + 4 781 c.641C>T c.(640-642)aCt>aTt p.T214I ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.T213I|ZNF773_ENST00000593916.1_Intron NM_198542.1 NP_940944.1 Q6PK81 ZN773_HUMAN zinc finger protein 773 214 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) AGACTGCACACTGGGGAAAAG 0.418000 45 58 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90857638 90857638 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:90857638C>A ENST00000394980.1 + 7 3126 c.2807C>A c.(2806-2808)aCa>aAa p.T936K MMRN1_ENST00000264790.2_Missense_Mutation_p.T936K|MMRN1_ENST00000508372.1_Missense_Mutation_p.T678K|MMRN1_ENST00000394981.1_Intron Q13201 MMRN1_HUMAN multimerin 1 936 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) AATGCTTCTACAAGTGTGTCA 0.373000 27 60 2.79863e-10 3.63098e-10 1 1 0 BMP6 654 broad.mit.edu 37 6 7845549 7845549 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr6:7845549C>A ENST00000283147.6 + 2 1000 c.841C>A c.(841-843)Cag>Aag p.Q281K NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 281 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) TCAAGTCTTACAGGAGCATCA 0.483000 12 56 0.000978159 0.00103671 1 1 0 TFAP2D 83741 broad.mit.edu 37 6 50683039 50683039 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr6:50683039G>A ENST00000008391.3 + 2 478 c.250G>A c.(250-252)Gcc>Acc p.A84T NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 84 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) CAGCCACCCGGCCGTCACCCC 0.592000 46 31 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56972069 56972069 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:56972069A>G ENST00000591790.1 - 3 1577 c.149T>C c.(148-150)cTg>cCg p.L50P ZNF667_ENST00000504904.3_Missense_Mutation_p.L50P|ZNF667_ENST00000342634.3_Missense_Mutation_p.L143P|ZNF667_ENST00000292069.6_Missense_Mutation_p.L50P Q5HYK9 ZN667_HUMAN zinc finger protein 667 50 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) AAGCGAGACCAGGTTCCGGTA 0.517000 20 50 0 0 1 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643137 37643137 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:37643137C>G ENST00000356958.4 - 5 1922 c.1664G>C c.(1663-1665)tGt>tCt p.C555S ZNF585A_ENST00000392157.2_Missense_Mutation_p.C500S|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.C500S Q6P3V2 Z585A_HUMAN zinc finger protein 585A 555 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGCTTTCCCACATTCGTGGCA 0.398000 30 45 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108371675 108371675 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:108371675C>T ENST00000263054.6 - 22 3034 c.3027G>A c.(3025-3027)ctG>ctA p.L1009L SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Silent_p.L544L|SORCS1_ENST00000344440.6_Silent_p.L1009L NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 1009 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TCACTTCCACCAGGGATTTTT 0.483000 7 29 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185798420 185798420 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:185798420C>A ENST00000302277.6 + 3 940 c.346C>A c.(346-348)Cgc>Agc p.R116S NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 116 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GGCACTCCAACGCCTGCACAA 0.398000 15 36 6.31663e-08 7.51504e-08 1 1 0 COL21A1 81578 broad.mit.edu 37 6 56035587 56035587 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr6:56035587C>A ENST00000244728.5 - 5 1283 c.886G>T c.(886-888)Gat>Tat p.D296Y COL21A1_ENST00000535941.1_Missense_Mutation_p.D296Y|COL21A1_ENST00000370819.1_Missense_Mutation_p.D296Y NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 296 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CTCCATAAATCCCAAATTTTC 0.328000 11 3 3.86212e-05 4.28176e-05 1 1 0 PDE6B 5158 broad.mit.edu 37 4 647649 647649 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:647649G>A ENST00000255622.6 + 4 763 c.720G>A c.(718-720)ctG>ctA p.L240L PDE6B_ENST00000429163.2_5'UTR|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000496514.1_Silent_p.L240L NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 240 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 AGGTGCTGCTGTGGTCGGCCA 0.622000 3 45 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106976822 106976822 + Silent SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:106976822A>T ENST00000369701.3 + 19 2903 c.2676A>T c.(2674-2676)acA>acT p.T892T SORCS3_ENST00000369699.4_Silent_p.T178T NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 892 PKD. integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TCCAGGTGACAGCCTATGCAG 0.527000 13 34 0 0 1 0 0 TYR 7299 broad.mit.edu 37 11 89028371 89028371 + Nonsense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:89028371C>G ENST00000263321.5 + 5 1929 c.1427C>G c.(1426-1428)tCa>tGa p.S476* NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 476 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) CGGATCTGGTCATGGCTCCTT 0.498000 23 46 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573455 140573455 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:140573455G>T ENST00000239446.4 + 1 1514 c.1330G>T c.(1330-1332)Gtc>Ttc p.V444F NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 444 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCTCCGACGTCAATGACAA 0.587000 23 70 1.03484e-13 1.44877e-13 1 1 0 MIR154 406946 broad.mit.edu 37 14 101526156 101526156 + RNA SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr14:101526156G>T ENST00000385243.1 + 0 65 NR_029704.1 ATACACGGTTGACCTATTTTT 0.507000 38 39 2.05212e-20 3.17577e-20 1 1 0 MUC16 94025 broad.mit.edu 37 19 9047471 9047471 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:9047471G>T ENST00000397910.4 - 5 34363 c.34160C>A c.(34159-34161)gCc>gAc p.A11387D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11389 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATCTGAAGTGGCTTCTGCCCC 0.473000 33 53 1.08312e-15 1.5674e-15 1 1 0 ABCA6 23460 broad.mit.edu 37 17 67133539 67133539 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr17:67133539C>T ENST00000284425.2 - 3 373 c.199G>A c.(199-201)Gta>Ata p.V67I ABCA6_ENST00000590645.1_Missense_Mutation_p.V67I NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 67 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) AATTTATCTACCCTTCCCAGA 0.388000 49 30 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57181664 57181664 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:57181664G>T ENST00000504228.1 + 6 2101 c.1996G>T c.(1996-1998)Gca>Tca p.A666S KIAA1211_ENST00000264229.6_Missense_Mutation_p.A666S|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A659S Q6ZU35 K1211_HUMAN KIAA1211 666 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) GTCCGCACTCGCAGAATGGGC 0.682000 14 27 7.93312e-07 9.18411e-07 1 1 0 FIBCD1 84929 broad.mit.edu 37 9 133799182 133799182 + Silent SNP C C A rs114210057 byFrequency TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr9:133799182C>A ENST00000372338.4 - 4 1040 c.798G>T c.(796-798)ccG>ccT p.P266P FIBCD1_ENST00000448616.1_Silent_p.P266P|FIBCD1_ENST00000372337.2_Silent_p.P108P|FIBCD1_ENST00000253018.4_Silent_p.P108P NM_032843.4 NP_116232.3 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 266 Fibrinogen C-terminal. signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) GGAAGCCGGCCGGGTAGTGGG 0.692000 14 24 4.93089e-13 6.85542e-13 1 1 0 TMEM57 55219 broad.mit.edu 37 1 25785233 25785233 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:25785233G>A ENST00000374343.4 + 6 1183 c.1004G>A c.(1003-1005)aGt>aAt p.S335N TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000470035.1_3'UTR NM_018202.4 NP_060672.2 Q8N5G2 MACOI_HUMAN transmembrane protein 57 335 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) TCACCTCGAAGTCATAGCGCC 0.423000 26 180 0 0 1 0 0 LOC643733 643733 broad.mit.edu 37 11 104774251 104774251 + RNA SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:104774251C>A ENST00000532510.1 - 0 3285 TGGACTGTTGCCTCCGGACTT 0.423000 3 22 0.004672 0.00486599 1 1 0 EHMT1 79813 broad.mit.edu 37 9 140711949 140711949 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr9:140711949G>T ENST00000460843.1 + 24 3460 c.3433G>T c.(3433-3435)Gac>Tac p.D1145Y NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1145 SET. DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GTCCCTGCAGGACATCCCACC 0.607000 31 34 8.16721e-17 1.211e-16 1 1 0 CYP3A4 1576 broad.mit.edu 37 7 99377624 99377624 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:99377624G>A ENST00000336411.2 - 2 339 c.156C>T c.(154-156)tcC>tcT p.S52S CYP3A4_ENST00000354593.2_Intron NM_001202855.2|NM_017460.5 NP_001189784.1|NP_059488.2 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 52 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) CCTTATGGTAGGACAAAATAT 0.423000 7 37 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238283226 238283226 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:238283226C>A ENST00000295550.4 - 8 3960 c.3508G>T c.(3508-3510)Gct>Tct p.A1170S COL6A3_ENST00000392003.2_Missense_Mutation_p.A763S|COL6A3_ENST00000409809.1_Missense_Mutation_p.A964S|COL6A3_ENST00000472056.1_Missense_Mutation_p.A563S|COL6A3_ENST00000392004.3_Missense_Mutation_p.A964S|COL6A3_ENST00000347401.3_Missense_Mutation_p.A969S|COL6A3_ENST00000353578.4_Missense_Mutation_p.A964S|COL6A3_ENST00000346358.4_Missense_Mutation_p.A970S NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1170 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GTGATGTCAGCGTTCCCGATG 0.607000 22 42 6.44725e-10 8.24044e-10 1 1 0 ALS2CL 259173 broad.mit.edu 37 3 46730923 46730923 + Missense_Mutation SNP T T G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:46730923T>G ENST00000318962.4 - 2 91 c.8A>C c.(7-9)aAc>aCc p.N3T ALS2CL_ENST00000415953.1_Missense_Mutation_p.N3T NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 3 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) CTCCTCAGGGTTGCACATGGC 0.637000 7 8 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247013698 247013698 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:247013698C>T ENST00000366508.1 - 33 5851 c.5715G>A c.(5713-5715)agG>agA p.R1905R AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.R1879R|AHCTF1_ENST00000391829.2_Silent_p.R1870R Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1870 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TTCTAGGAGTCCTTTTTGTAA 0.328000 38 40 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 472913 472913 + Silent SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr20:472913T>C ENST00000217244.3 - 9 981 c.606A>G c.(604-606)ctA>ctG p.L202L CSNK2A1_ENST00000349736.5_Silent_p.L202L|CSNK2A1_ENST00000400227.3_Silent_p.L202L|CSNK2A1_ENST00000400217.1_Silent_p.L66L|CSNK2A1_ENST00000460062.1_5'UTR NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 202 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) AGTCTACAAGTAGCTCAGGAC 0.398000 19 34 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73544146 73544146 + Missense_Mutation SNP G G A rs111033491 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:73544146G>A ENST00000224721.6 + 41 5491 c.5486G>A c.(5485-5487)cGt>cAt p.R1829H NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1824 Cadherin 17. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 ATCTGTGCCCGTGACCGGGGG 0.617000 8 33 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7618902 7618902 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:7618902C>A ENST00000256861.6 - 10 1570 c.1492G>T c.(1492-1494)Gcc>Tcc p.A498S ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.A280S|ITIH5_ENST00000397145.2_Missense_Mutation_p.A498S|ITIH5_ENST00000397146.2_Missense_Mutation_p.A498S|ITIH5_ENST00000298441.6_Missense_Mutation_p.A284S NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 498 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 GTCTTGGTGGCCTGCACCACT 0.587000 17 34 3.52763e-06 4.02967e-06 1 1 0 USH2A 7399 broad.mit.edu 37 1 216498862 216498862 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:216498862G>A ENST00000366943.2 - 6 1314 c.928C>T c.(928-930)Cgg>Tgg p.R310W USH2A_ENST00000307340.3_Missense_Mutation_p.R310W|USH2A_ENST00000366942.3_Missense_Mutation_p.R310W O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 310 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 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) GGGTGGACCCGCGGGTGGCTG 0.532000 HNSCC(13;0.011) 14 62 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32339229 32339229 + Silent SNP A A C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr13:32339229A>C ENST00000298386.2 + 4 446 c.375A>C c.(373-375)gtA>gtC p.V125V RXFP2_ENST00000380314.1_Silent_p.V125V NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 125 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TGGAATGTGTAAATGGTGACT 0.333000 14 49 0 0 1 0 0 CD200R1 131450 broad.mit.edu 37 3 112648250 112648250 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:112648250C>A ENST00000471858.1 - 3 470 c.238G>T c.(238-240)Ggc>Tgc p.G80C CD200R1_ENST00000440122.2_Missense_Mutation_p.G103C|CD200R1_ENST00000295863.4_Missense_Mutation_p.G58C|CD200R1_ENST00000490004.1_Missense_Mutation_p.G80C|CD200R1_ENST00000308611.3_Missense_Mutation_p.G103C NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 80 Ig-like V-type. interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 GAAGGCTGGCCTCTCAGGATT 0.428000 22 84 7.41877e-09 9.18951e-09 1 1 0 NPAT 4863 broad.mit.edu 37 11 108043050 108043050 + Silent SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:108043050T>A ENST00000278612.8 - 13 2766 c.2661A>T c.(2659-2661)gtA>gtT p.V887V NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 887 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) GCAACACCACTACATTAGACT 0.448000 53 135 0 0 1 0 0 LGR4 55366 broad.mit.edu 37 11 27390103 27390103 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:27390103C>A ENST00000379214.4 - 18 2610 c.2167G>T c.(2167-2169)Gtt>Ttt p.V723F LGR4_ENST00000389858.4_Missense_Mutation_p.V699F NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 723 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 GTGTAGATAACGGCCATTAAT 0.388000 47 60 1.8453e-21 2.8779e-21 1 1 0 KCNV1 27012 broad.mit.edu 37 8 110980758 110980758 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:110980758G>T ENST00000524391.1 - 4 2094 c.1062C>A c.(1060-1062)tcC>tcA p.S354S KCNV1_ENST00000297404.1_Silent_p.S354S Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 354 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) AGATTCCCACGGATAGAAATA 0.468000 26 47 1.64293e-13 2.28946e-13 1 1 0 MAP4 4134 broad.mit.edu 37 3 47960230 47960230 + Nonsense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:47960230C>A ENST00000426837.2 - 7 769 c.682G>T c.(682-684)Gaa>Taa p.E228* MAP4_ENST00000395734.3_Nonsense_Mutation_p.E211*|MAP4_ENST00000360240.6_Nonsense_Mutation_p.E211*|MAP4_ENST00000383737.4_Nonsense_Mutation_p.E211* P27816 MAP4_HUMAN microtubule-associated protein 4 211 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGAGGAGGTTCTGCAACAGCC 0.443000 22 44 5.26018e-13 7.2796e-13 1 1 0 PTPRD 5789 broad.mit.edu 37 9 8376715 8376715 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr9:8376715G>T ENST00000381196.4 - 35 4941 c.4398C>A c.(4396-4398)gaC>gaA p.D1466E PTPRD_ENST00000356435.5_Missense_Mutation_p.D1466E|PTPRD_ENST00000355233.5_Missense_Mutation_p.D1060E|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1444E|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1466E|PTPRD_ENST00000537002.1_Missense_Mutation_p.D1056E|PTPRD_ENST00000397617.3_Missense_Mutation_p.D1059E|PTPRD_ENST00000397606.3_Missense_Mutation_p.D1059E|PTPRD_ENST00000397611.3_Missense_Mutation_p.D1056E|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1453E|PTPRD_ENST00000486161.1_Missense_Mutation_p.D1059E NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1466 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCCAATACTGGTCACACTTCA 0.443000 TSP Lung(15;0.13) 18 23 6.49762e-13 8.93052e-13 1 1 0 KALRN 8997 broad.mit.edu 37 3 124437978 124437978 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:124437978G>T ENST00000360013.3 + 60 8749 c.8622G>T c.(8620-8622)ctG>ctT p.L2874L KALRN_ENST00000428018.2_Silent_p.L1145L|KALRN_ENST00000291478.4_Silent_p.L1177L NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2873 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 ATGTCATGCTGAGTGGGGTCT 0.532000 17 46 3.52763e-06 4.02967e-06 1 1 0 PGAM4 441531 broad.mit.edu 37 X 77224974 77224974 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chrX:77224974G>C ENST00000458128.1 - 1 161 c.162C>G c.(160-162)atC>atG p.I54M ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 54 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 AGGTGAGGCAGATGTCAAACT 0.617000 69 24 0 0 1 0 0 TMEM192 201931 broad.mit.edu 37 4 166033914 166033914 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:166033914C>A ENST00000306480.5 - 1 157 c.12G>T c.(10-12)ggG>ggT p.G4G TMEM192_ENST00000506087.1_Intron NM_001100389.1 NP_001093859.1 Q8IY95 TM192_HUMAN transmembrane protein 192 4 Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0926) CCATCCTGCCCCCCGCCGCCA 0.706000 10 11 0.000442599 0.000473259 1 1 0 FCRL3 115352 broad.mit.edu 37 1 157660142 157660142 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:157660142G>T ENST00000368184.3 - 9 1884 c.1593C>A c.(1591-1593)aaC>aaA p.N531K FCRL3_ENST00000368186.5_Missense_Mutation_p.N531K|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 531 Ig-like C2-type 6. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) TCAGAGAGAGGTTGAAGGATG 0.532000 21 80 4.96729e-08 5.9214e-08 1 1 0 DDX1 1653 broad.mit.edu 37 2 15747309 15747309 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:15747309G>C ENST00000381341.2 + 14 1217 c.828G>C c.(826-828)caG>caC p.Q276H DDX1_ENST00000233084.3_Missense_Mutation_p.Q276H Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 276 Helicase ATP-binding.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) GTAATGCACAGGTGACACAAA 0.353000 32 62 0 0 1 0 0 OR5K3 403277 broad.mit.edu 37 3 98110083 98110083 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:98110083C>A ENST00000383695.1 + 1 574 c.574C>A c.(574-576)Cct>Act p.P192T RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005516.1 NP_001005516.1 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, member 3 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 TTGTATTAACCCTTATATCAA 0.299000 18 66 5.01169e-05 5.52571e-05 1 1 0 CDH18 1016 broad.mit.edu 37 5 19544072 19544072 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:19544072G>T ENST00000507958.1 - 11 2286 c.1296C>A c.(1294-1296)aaC>aaA p.N432K CDH18_ENST00000506372.1_Missense_Mutation_p.N432K|CDH18_ENST00000274170.4_Missense_Mutation_p.N432K|CDH18_ENST00000502796.1_Missense_Mutation_p.N432K|CDH18_ENST00000382275.1_Missense_Mutation_p.N432K|CDH18_ENST00000511273.1_Missense_Mutation_p.N432K Q13634 CAD18_HUMAN cadherin 18, type 2 432 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) TGGCATCAATGTTGAAAAATC 0.353000 26 59 9.57634e-11 1.25598e-10 1 1 0 TPSB2 64499 broad.mit.edu 37 16 1279674 1279674 + RNA SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr16:1279674C>A ENST00000430512.2 - 0 177 TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000339687.6_RNA NM_024164.5 NP_077078.5 P20231 TRYB2_HUMAN tryptase beta 2 (gene/pseudogene) proteolysis extracellular region protein binding|serine-type endopeptidase activity lung(1)|upper_aerodigestive_tract(1) 2 Hepatocellular(780;0.00369) CCTGCCAGGGCCACTTGCTCC 0.697000 6 35 0.0293803 0.029726 1 1 0 ANKRD33 341405 broad.mit.edu 37 12 52284470 52284470 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:52284470T>A ENST00000301190.6 + 5 967 c.740T>A c.(739-741)cTg>cAg p.L247Q ANKRD33_ENST00000340970.4_Missense_Mutation_p.L122Q|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.L53Q NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 122 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) CGGCAGCTGCTGAGGCGGCCC 0.677000 9 21 0 0 1 0 0 CEP120 153241 broad.mit.edu 37 5 122718566 122718566 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:122718566C>A ENST00000306467.5 - 13 2182 c.1878G>T c.(1876-1878)caG>caT p.Q626H CEP120_ENST00000328236.5_Missense_Mutation_p.Q626H|CEP120_ENST00000306481.6_Missense_Mutation_p.Q600H Q8N960 CE120_HUMAN centrosomal protein 120kDa 626 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 ACGGCTTTTGCTGTACGGCAG 0.393000 18 46 6.94344e-10 8.85583e-10 1 1 0 DNAJB11 51726 broad.mit.edu 37 3 186299189 186299189 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:186299189G>T ENST00000439351.1 + 6 1415 c.486G>T c.(484-486)caG>caT p.Q162H DNAJB11_ENST00000265028.3_Missense_Mutation_p.Q162H Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 162 protein folding endoplasmic reticulum lumen heat shock protein binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) TGGCAAGGCAGGCTCCTGGCA 0.512000 7 43 0.0293803 0.029726 1 1 0 TENM2 57451 broad.mit.edu 37 5 167674518 167674518 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:167674518C>T ENST00000519204.1 + 26 6329 c.6211C>T c.(6211-6213)Ctg>Ttg p.L2071L TENM2_ENST00000403607.2_Silent_p.L2016L|TENM2_ENST00000520394.1_Silent_p.L1953L|TENM2_ENST00000518659.1_Silent_p.L2192L|TENM2_ENST00000545108.1_Silent_p.L2191L teneurin transmembrane protein 2 GGAGCTAAAACTGGGGCCCTA 0.572000 12 24 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108388547 108388547 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:108388547G>C ENST00000361582.3 + 22 2673 c.2443G>C c.(2443-2445)Gct>Cct p.A815P DZIP3_ENST00000463306.1_Missense_Mutation_p.A815P NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 815 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 TCAAATCCATGCTAAAGATAA 0.343000 12 36 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55626470 55626470 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:55626470A>T ENST00000373965.2 - 28 4064 c.3670T>A c.(3670-3672)Tac>Aac p.Y1224N PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.Y1222N|PCDH15_ENST00000395438.1_Missense_Mutation_p.Y1217N|PCDH15_ENST00000395433.1_Missense_Mutation_p.Y1195N|PCDH15_ENST00000409834.1_Missense_Mutation_p.Y828N|PCDH15_ENST00000320301.6_Missense_Mutation_p.Y1217N|PCDH15_ENST00000361849.3_Missense_Mutation_p.Y1217N|PCDH15_ENST00000395430.1_Missense_Mutation_p.Y1217N|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.Y1146N|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.Y1180N|PCDH15_ENST00000395445.1_Missense_Mutation_p.Y1224N NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1217 Cadherin 11. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AACTTGAAGTAGGATCTCCTC 0.398000 HNSCC(58;0.16) 9 45 0 0 1 0 0 ENG 2022 broad.mit.edu 37 9 130586703 130586703 + Silent SNP G G T rs45439096 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr9:130586703G>T ENST00000344849.3 - 8 1294 c.1014C>A c.(1012-1014)ccC>ccA p.P338P ENG_ENST00000373203.4_Silent_p.P338P|ENG_ENST00000480266.1_5'UTR P17813 EGLN_HUMAN endoglin 338 Ser/Thr-rich. artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 GGATCGGTGCGGGTGAGGTCT 0.587000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 11 22 4.68919e-08 5.62329e-08 1 1 0 PEG3 5178 broad.mit.edu 37 19 57328491 57328491 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:57328491G>T ENST00000326441.9 - 10 1682 c.1319C>A c.(1318-1320)aCc>aAc p.T440N PEG3_ENST00000593695.1_Missense_Mutation_p.T314N|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.T440N|PEG3_ENST00000598410.1_Missense_Mutation_p.T316N|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 440 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTGTGACTCGGTAAAGGAGGG 0.498000 47 129 2.77807e-22 4.3552e-22 1 1 0 FSCB 84075 broad.mit.edu 37 14 44974065 44974065 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr14:44974065G>T ENST00000340446.4 - 1 2417 c.2126C>A c.(2125-2127)gCa>gAa p.A709E NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 709 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) GGCCTCTTCTGCAGGGACATC 0.537000 20 23 4.96729e-08 5.9214e-08 1 1 0 REXO1 57455 broad.mit.edu 37 19 1827786 1827786 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:1827786C>A ENST00000170168.4 - 2 1096 c.1002G>T c.(1000-1002)ctG>ctT p.L334L REXO1_ENST00000587524.1_5'UTR NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 334 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGTCTCCCGCAGGCCGCCCC 0.726000 6 4 0.00116845 0.00123188 1 1 0 LGALS4 3960 broad.mit.edu 37 19 39292721 39292721 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:39292721C>T ENST00000307751.4 - 9 1213 c.736G>A c.(736-738)Gtg>Atg p.V246M NM_006149.3 NP_006140.1 P56470 LEG4_HUMAN lectin, galactoside-binding, soluble, 4 246 Galectin 2. cell adhesion cytosol|plasma membrane sugar binding NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) TTCCGGACCACGGTACCGTTG 0.557000 31 60 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103119905 103119905 + Splice_Site SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:103119905A>G ENST00000295269.4 + 3 1177 c.e3-1 NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 TTTTTTGCCTAGGTCTTATAC 0.338000 4 21 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158581118 158581118 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:158581118C>G ENST00000368148.3 - 52 7376 c.7196G>C c.(7195-7197)cGg>cCg p.R2399P SPTA1_ENST00000368147.3_Missense_Mutation_p.R2396P NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2399 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GCTTCGACCCCGTGGGTCCAT 0.443000 48 50 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78329134 78329134 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:78329134G>T ENST00000255189.3 - 8 1319 c.1291C>A c.(1291-1293)Cgc>Agc p.R431S DMGDH_ENST00000380311.4_Missense_Mutation_p.R230S|DMGDH_ENST00000540686.1_Missense_Mutation_p.R51S NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 431 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TTGCCATAGCGATTAGGATCC 0.423000 38 63 8.73648e-17 1.28906e-16 1 1 0 VCAN 1462 broad.mit.edu 37 5 82836456 82836456 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:82836456T>C ENST00000265077.3 + 8 8199 c.7634T>C c.(7633-7635)aTa>aCa p.I2545T VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.I1558T|VCAN_ENST00000502527.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2545 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AATATTATCATAGACCTGGAC 0.378000 21 76 0 0 1 0 0 CD1B 910 broad.mit.edu 37 1 158298716 158298716 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:158298716C>A ENST00000368168.3 - 5 1082 c.975G>T c.(973-975)agG>agT p.R325S NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 325 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding p.R325R(1) breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) CTCACCGGCGCCTCATATACC 0.383000 8 37 0.27861 0.279074 1 1 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253728 32253728 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr21:32253728C>A ENST00000332378.4 - 1 146 c.116G>T c.(115-117)gGc>gTc p.G39V NM_175858.2 NP_787054.1 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 39 keratin filament structural molecule activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 CAAACAGATGCCGCCCAGGCA 0.572000 17 28 2.35188e-11 3.11172e-11 1 1 0 WDFY3 23001 broad.mit.edu 37 4 85731139 85731139 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:85731139T>A ENST00000322366.6 - 14 2653 c.2246A>T c.(2245-2247)gAg>gTg p.E749V WDFY3_ENST00000295888.4_Missense_Mutation_p.E749V|WDFY3-AS1_ENST00000510449.1_RNA Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 749 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TACATCTTCCTCTAAAAGTCT 0.398000 38 86 0 0 1 0 0 KCTD10 83892 broad.mit.edu 37 12 109893983 109893983 + Silent SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:109893983C>G ENST00000228495.6 - 6 944 c.663G>C c.(661-663)cgG>cgC p.R221R KCTD10_ENST00000540411.1_Silent_p.R195R|KCTD10_ENST00000540089.1_Silent_p.R40R|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Silent_p.R40R NM_031954.3 NP_114160.1 Q9H3F6 BACD3_HUMAN potassium channel tetramerization domain containing 10 221 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 10 CAGCAATCTTCCGGCCCTGAC 0.478000 10 76 0 0 1 0 0 OVCH1 341350 broad.mit.edu 37 12 29627993 29627993 + Splice_Site SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:29627993C>A ENST00000318184.5 - 14 1600 c.e14+1 OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TTTATACTCACCTGAGGGCAA 0.348000 3 11 0.004672 0.00486599 1 1 0 FAM47A 158724 broad.mit.edu 37 X 34149551 34149551 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chrX:34149551C>T ENST00000346193.3 - 1 896 c.845G>A c.(844-846)gGc>gAc p.G282D NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 282 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CTTCTCCCGGCCCTCACAAGG 0.582000 19 15 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55087389 55087389 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:55087389C>A ENST00000251377.3 + 7 1201 c.1068C>A c.(1066-1068)acC>acA p.T356T LILRA2_ENST00000251376.3_Silent_p.T356T|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Silent_p.T344T|LILRA2_ENST00000391738.3_Silent_p.T356T leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) TCCTTCTGACCAAGGAGGGGG 0.612000 24 58 4.16121e-05 4.60487e-05 1 1 0 TULP3 7289 broad.mit.edu 37 12 3018726 3018726 + Nonsense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:3018726C>T ENST00000448120.2 + 2 124 c.73C>T c.(73-75)Cag>Tag p.Q25* TULP3_ENST00000397132.2_Nonsense_Mutation_p.Q25* NM_003324.4 NP_003315.2 O75386 TULP3_HUMAN tubby like protein 3 25 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GAAGATGCGACAGGCTAAGCT 0.378000 41 180 0 0 1 0 0 OXCT1 5019 broad.mit.edu 37 5 41762287 41762287 + Nonsense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:41762287C>A ENST00000196371.5 - 14 1424 c.1264G>T c.(1264-1266)Gga>Tga p.G422* OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000512084.1_Nonsense_Mutation_p.G25*|OXCT1_ENST00000510634.1_Nonsense_Mutation_p.G25*|OXCT1_ENST00000509987.1_Nonsense_Mutation_p.G236* NM_000436.3 NP_000427.1 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 422 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2) 28 Succinic acid(DB00139) CCTCCCATTCCTTTCACCATC 0.393000 28 137 2.61193e-14 3.69972e-14 1 1 0 ARHGAP4 393 broad.mit.edu 37 X 153184454 153184454 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chrX:153184454C>T ENST00000370028.3 - 8 1041 c.984G>A c.(982-984)acG>acA p.T328T ARHGAP4_ENST00000537206.1_Silent_p.T265T|ARHGAP4_ENST00000370016.1_Silent_p.T267T|ARHGAP4_ENST00000350060.5_Silent_p.T288T|ARHGAP4_ENST00000393721.1_Intron NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 288 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCTCAGCGGCCGTGTAGCTCC 0.642000 37 12 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248367063 248367063 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:248367063G>T ENST00000456743.1 + 1 732 c.694G>T c.(694-696)Gag>Tag p.E232* NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E232K(1) endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGGATCTGGAGAGGGTCGTCG 0.448000 10 271 2.27111e-07 2.6445e-07 1 1 0 CCT6P1 643253 broad.mit.edu 37 7 65219610 65219610 + RNA SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:65219610G>C ENST00000442266.1 + 0 282 CCTAATCATTGGAGAGCTGCT 0.413000 21 51 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196887415 196887415 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:196887415A>G ENST00000367416.2 + 10 1750 c.1613A>G c.(1612-1614)tAt>tGt p.Y538C CFHR4_ENST00000367418.1_Missense_Mutation_p.Y292C|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.Y292C NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 ATAAAATATTATGCAAAAACA 0.299000 30 86 0 0 1 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227333230 227333230 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:227333230G>A ENST00000366769.3 - 8 2394 c.1103C>T c.(1102-1104)aCa>aTa p.T368I CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T368I|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T368I|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T368I|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T368I|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T368I|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T368I NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 368 AGC-kinase C-terminal. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) AAAATTCGATGTATCTGTTGG 0.343000 19 97 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 116887422 116887422 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:116887422A>G ENST00000355044.3 + 4 683 c.557A>G c.(556-558)tAt>tGt p.Y186C ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.Y186C NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 186 CUB. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) ACATCTGGCTATGCACTGTTA 0.318000 6 16 0 0 1 0 0 ARID5B 84159 broad.mit.edu 37 10 63662049 63662049 + Silent SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:63662049G>C ENST00000279873.7 + 2 563 c.153G>C c.(151-153)ccG>ccC p.P51P NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 51 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CAAAGGATCCGATTTGCATAG 0.458000 13 46 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131797653 131797653 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:131797653C>A ENST00000286355.5 - 16 5221 c.3129G>T c.(3127-3129)gtG>gtT p.V1043V ADCY8_ENST00000377928.3_Silent_p.V912V NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 1043 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) ACAGGCCTGACACGGCCATGT 0.502000 HNSCC(32;0.087) 10 66 2.17888e-05 2.43807e-05 1 1 0 GLIPR1 11010 broad.mit.edu 37 12 75875806 75875806 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:75875806G>C ENST00000266659.3 + 2 568 c.367G>C c.(367-369)Gac>Cac p.D123H NM_006851.2 NP_006842.2 P48060 GLIP1_HUMAN GLI pathogenesis-related 1 123 cellular lipid metabolic process extracellular region|integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 14 CGAAATCCAGGACTATGACTT 0.443000 60 73 0 0 1 0 0 KRT16P3 644945 broad.mit.edu 37 17 20405887 20405887 + RNA SNP C C T rs147457236 by1000genomes TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr17:20405887C>T ENST00000580113.1 - 0 976 GCTGCTGTGCCGGGTCCTTCA 0.577000 3 46 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21751848 21751848 + Nonstop_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:21751848A>T ENST00000382254.1 - 15 3469 c.2383T>A c.(2383-2385)Taa>Aaa p.*795K CDH12_ENST00000522262.1_Nonstop_Mutation_p.*755K|CDH12_ENST00000504376.2_Nonstop_Mutation_p.*795K|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 0 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 CGACTCCCTTAAGTGACTTTA 0.413000 HNSCC(59;0.17) 36 93 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784198 9784198 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:9784198G>T ENST00000304374.2 + 1 941 c.545G>T c.(544-546)aGg>aTg p.R182M NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 182 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) AACTGGCACAGGGACCAGGCG 0.617000 18 48 1.33834e-09 1.68552e-09 1 1 0 TRPS1 7227 broad.mit.edu 37 8 116616637 116616637 + Missense_Mutation SNP T T G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:116616637T>G ENST00000395715.3 - 4 2136 c.1559A>C c.(1558-1560)aAg>aCg p.K520T TRPS1_ENST00000520276.1_Missense_Mutation_p.K511T|TRPS1_ENST00000220888.5_Missense_Mutation_p.K507T|TRPS1_ENST00000519674.1_Missense_Mutation_p.K507T|TRPS1_ENST00000519076.1_Intron NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 507 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GAAGTCCTTCTTTTTAGCCCC 0.453000 Langer-Giedion syndrome 32 124 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123811050 123811050 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:123811050C>A ENST00000307033.2 + 1 801 c.727C>A c.(727-729)Cac>Aac p.H243N NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CTGTGCCTCTCACATTGCTGT 0.537000 37 200 1.36161e-19 2.08573e-19 1 1 0 HDAC9 9734 broad.mit.edu 37 7 18625005 18625005 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:18625005C>A ENST00000406451.3 + 3 274 c.124C>A c.(124-126)Cgt>Agt p.R42S HDAC9_ENST00000428307.2_Missense_Mutation_p.R42S|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84S|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42S|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42S|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000432645.2_Missense_Mutation_p.R42S|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42S|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11S|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70S|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11S NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 42 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) CCCTGTTGTCCGTGAGAAGCA 0.493000 38 88 1.836e-18 2.77707e-18 1 1 0 PCDHB2 56133 broad.mit.edu 37 5 140475710 140475710 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:140475710G>T ENST00000194155.4 + 1 1484 c.1336G>T c.(1336-1338)Gtc>Ttc p.V446F NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 446 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCTCCGACGTCAATGACAA 0.602000 14 154 3.62473e-10 4.66258e-10 1 1 0 ZFC3H1 196441 broad.mit.edu 37 12 72004858 72004858 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:72004858C>A ENST00000378743.3 - 33 6107 c.5749G>T c.(5749-5751)Gtt>Ttt p.V1917F NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1917 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CCCTTTAGAACAATCTCAGCA 0.303000 47 141 1.38658e-30 2.256e-30 1 1 0 LRRFIP2 9209 broad.mit.edu 37 3 37095392 37095392 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:37095392G>A ENST00000421307.1 - 29 2538 c.2116C>T c.(2116-2118)Cgg>Tgg p.R706W LRRFIP2_ENST00000396428.2_Missense_Mutation_p.R488W|MLH1_ENST00000536378.1_Intron|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.R706W|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.R385W|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.R409W|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.R409W NM_006309.2 NP_006300.1 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting protein 2 706 Wnt receptor signaling pathway LRR domain binding p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 TTCTCCAGCCGCTTGGCCAGG 0.542000 14 87 0 0 1 0 0 C3orf56 285311 broad.mit.edu 37 3 126915629 126915629 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:126915629G>T ENST00000398112.1 + 2 341 c.101G>T c.(100-102)tGg>tTg p.W34L NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) TCAACCCCCTGGGTGGCCATG 0.612000 5 18 0.014758 0.0150327 1 1 0 MYO7B 4648 broad.mit.edu 37 2 128351131 128351131 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:128351131A>T ENST00000389524.4 + 18 2209 c.2156A>T c.(2155-2157)aAg>aTg p.K719M MYO7B_ENST00000428314.1_Missense_Mutation_p.K719M|MYO7B_ENST00000409816.2_Missense_Mutation_p.K719M Q6PIF6 MYO7B_HUMAN myosin VIIB 719 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CTGCAAGGCAAGCTCCGCCAG 0.612000 27 27 0 0 1 0 0 RGS5 8490 broad.mit.edu 37 1 163131739 163131739 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:163131739C>A ENST00000313961.5 - 3 460 c.183G>T c.(181-183)tgG>tgT p.W61C RGS5_ENST00000367903.3_Missense_Mutation_p.W81C|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000527988.1_Intron|RGS5_ENST00000534288.1_5'UTR|RGS5_ENST00000530507.1_Missense_Mutation_p.W61C NM_001254749.1|NM_003617.3 NP_001241678.1|NP_003608.1 O15539 RGS5_HUMAN regulator of G-protein signaling 5 61 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 LUSC - Lung squamous cell carcinoma(543;0.187) GGGAATCACGCCACTGCAGGG 0.413000 4 46 0.00909568 0.00937603 1 1 0 ASXL3 80816 broad.mit.edu 37 18 31324356 31324356 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr18:31324356C>G ENST00000269197.5 + 12 4544 c.4544C>G c.(4543-4545)gCg>gGg p.A1515G NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1515 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CAGCCCGTGGCGTGTCCTCAG 0.542000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 68 0 0 1 0 0 LENG1 79165 broad.mit.edu 37 19 54659539 54659539 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:54659539G>A ENST00000222224.3 - 4 901 c.715C>T c.(715-717)Cgg>Tgg p.R239W NM_024316.1 NP_077292.1 Q96BZ8 LENG1_HUMAN leukocyte receptor cluster (LRC) member 1 239 breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1) 8 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CGCCGCCGCCGGTCATCCGTC 0.677000 4 15 0 0 1 0 0 P2RX7 5027 broad.mit.edu 37 12 121622337 121622337 + Missense_Mutation SNP T T G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:121622337T>G ENST00000328963.5 + 12 1464 c.1010T>G c.(1009-1011)aTc>aGc p.I337S P2RX7_ENST00000535250.1_Missense_Mutation_p.I417S|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000546057.1_Missense_Mutation_p.I507S|P2RX7_ENST00000541446.1_Missense_Mutation_p.I218S A8K2Z0 A8K2Z0_HUMAN purinergic receptor P2X, ligand-gated ion channel, 7 507 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GGGGCCTGCATCACCACCTCA 0.622000 4 24 0 0 1 0 0 OSBPL10 114884 broad.mit.edu 37 3 31774867 31774867 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:31774867G>C ENST00000396556.2 - 6 1099 c.977C>G c.(976-978)tCc>tGc p.S326C OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Missense_Mutation_p.S262C NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 326 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) CTGCTCTGTGGAATGTGACTT 0.423000 33 100 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56243628 56243628 + Silent SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:56243628T>A ENST00000332836.2 - 2 1596 c.1569A>T c.(1567-1569)atA>atT p.I523I NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 523 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) GGCATTGGGTTATTTCCTGCT 0.398000 32 95 0 0 1 0 0 RTN4 57142 broad.mit.edu 37 2 55253825 55253825 + Silent SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:55253825T>C ENST00000337526.6 - 3 1653 c.1410A>G c.(1408-1410)gcA>gcG p.A470A RTN4_ENST00000357376.3_Silent_p.A264A|RTN4_ENST00000354474.6_Silent_p.A238A|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000404909.1_Silent_p.A264A|RTN4_ENST00000405240.1_Silent_p.A264A|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Silent_p.A264A|RTN4_ENST00000357732.4_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 470 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 TCTCAGTTGCTGCTGGGTTAA 0.388000 65 97 0 0 1 0 0 BPIFB2 80341 broad.mit.edu 37 20 31601647 31601647 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr20:31601647G>T ENST00000170150.3 + 5 535 c.340G>T c.(340-342)Gtg>Ttg p.V114L NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 114 extracellular region lipid binding GACGCTGCCTGTGGAACTGCT 0.627000 18 33 4.75885e-15 6.85365e-15 1 1 0 HHIPL2 79802 broad.mit.edu 37 1 222717137 222717137 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:222717137C>A ENST00000343410.6 - 2 774 c.716G>T c.(715-717)gGa>gTa p.G239V NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 239 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) CCACACCACTCCTACCTGCTC 0.612000 35 37 8.4185e-14 1.18134e-13 1 1 0 BNIPL 149428 broad.mit.edu 37 1 151010080 151010080 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:151010080G>T ENST00000368931.3 + 2 235 c.79G>T c.(79-81)Gcc>Tcc p.A27S BNIPL_ENST00000295294.7_5'UTR NM_138278.3 NP_612122.2 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein like 27 apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate cytosol|nucleus identical protein binding autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1) 10 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ACTAGGAGCAGCCCTGAGACA 0.512000 3 11 0.004672 0.00486599 1 1 0 OR6N1 128372 broad.mit.edu 37 1 158735719 158735719 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:158735719A>G ENST00000335094.2 - 1 773 c.754T>C c.(754-756)Tat>Cat p.Y252H NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) ATGCTCCCATAGAAGATGAGA 0.537000 63 110 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128561257 128561257 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr6:128561257C>A ENST00000368227.3 - 5 982 c.616G>T c.(616-618)Gtg>Ttg p.V206L PTPRK_ENST00000368210.3_Missense_Mutation_p.V206L|PTPRK_ENST00000368215.3_Missense_Mutation_p.V206L|PTPRK_ENST00000368213.5_Missense_Mutation_p.V206L|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.V206L|PTPRK_ENST00000368207.3_Missense_Mutation_p.V206L|PTPRK_ENST00000532331.1_Missense_Mutation_p.V206L Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 206 Ig-like C2-type. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CCTGCATTCACCTCTACATCC 0.433000 12 17 0.00185496 0.00194884 1 1 0 TGM3 7053 broad.mit.edu 37 20 2320589 2320589 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr20:2320589G>T ENST00000381458.5 + 12 1953 c.1890G>T c.(1888-1890)ctG>ctT p.L630L NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 630 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity p.L630fs*5(1) breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) ACTGCGTGCTGATGGTGGAGG 0.647000 5 8 0.014758 0.0150327 1 1 0 CCDC112 153733 broad.mit.edu 37 5 114607027 114607027 + Silent SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:114607027G>C ENST00000379611.5 - 7 1502 c.1215C>G c.(1213-1215)acC>acG p.T405T CCDC112_ENST00000512261.1_Silent_p.T322T|CCDC112_ENST00000506442.1_Silent_p.T322T|CCDC112_ENST00000395557.4_Silent_p.T322T NM_001040440.2 NP_001035530.1 Q8NEF3 CC112_HUMAN coiled-coil domain containing 112 322 endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1) 20 all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06) TCTTCTGCTGGGTATAACTTT 0.358000 24 94 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123813921 123813921 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:123813921C>T ENST00000321252.2 - 1 659 c.625G>A c.(625-627)Ggc>Agc p.G209S NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GCCAGTGAGCCCAGTAACACC 0.547000 19 76 0 0 1 0 0 GRIA4 2893 broad.mit.edu 37 11 105732770 105732770 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:105732770A>G ENST00000393127.2 + 5 954 c.508A>G c.(508-510)Att>Gtt p.I170V GRIA4_ENST00000525187.1_Missense_Mutation_p.I170V|GRIA4_ENST00000428631.2_Missense_Mutation_p.I170V|GRIA4_ENST00000530497.1_Missense_Mutation_p.I170V|GRIA4_ENST00000282499.5_Missense_Mutation_p.I170V|GRIA4_ENST00000393125.2_Missense_Mutation_p.I170V NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 170 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) ACTCCAAGCTATTATGGAAAA 0.368000 18 63 0 0 1 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070069 141070069 + RNA SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr9:141070069C>T ENST00000503395.1 + 0 1149 GGTACGTGCCCCGCGCTGTGC 0.711000 3 47 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29725152 29725152 + Splice_Site SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:29725152C>G ENST00000256062.5 - 9 1568 c.e9-1 TMTC1_ENST00000381224.2_Splice_Site|TMTC1_ENST00000539277.1_Splice_Site|TMTC1_ENST00000319685.8_Splice_Site|TMTC1_ENST00000552618.1_Intron|TMTC1_ENST00000551659.1_Splice_Site NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) AACTCCAGACCTAAAATGAAT 0.358000 13 57 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179596793 179596793 + Splice_Site SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:179596793C>T ENST00000589042.1 - 57 17127 c.16903_splice c.e57+1 p.E5635_splice TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site_p.E4391_splice|TTN_ENST00000591111.1_Splice_Site_p.E5318_splice|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5318 Ig-like 37. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAACACAAACCTTTGACTATT 0.453000 57 118 0 0 1 0 0 OR10AD1 121275 broad.mit.edu 37 12 48596967 48596967 + Missense_Mutation SNP G G T rs139314602 byFrequency TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:48596967G>T ENST00000310248.2 - 1 203 c.109C>A c.(109-111)Ctc>Atc p.L37I NM_001004134.1 NP_001004134.1 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, member 1 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1) 9 GCCATGGTGAGGCTGTAGAGG 0.532000 5 53 0.000602214 0.000642789 1 1 0 ABCA10 10349 broad.mit.edu 37 17 67170797 67170797 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr17:67170797T>A ENST00000269081.4 - 25 3908 c.2999A>T c.(2998-3000)tAc>tTc p.Y1000F ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_Intron NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 1000 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) AAATATGAAGTAGTAAATTAA 0.368000 51 46 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49722300 49722300 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:49722300C>A ENST00000449682.2 - 15 2001 c.1640G>T c.(1639-1641)gGc>gTc p.G547V AC099668.5_ENST00000563780.1_RNA NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 533 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TACCTCATAGCCCGTGAGAGG 0.582000 5 42 0.014758 0.0150327 1 1 0 CD300E 342510 broad.mit.edu 37 17 72610148 72610148 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr17:72610148G>A ENST00000392619.1 - 3 529 c.494C>T c.(493-495)aCa>aTa p.T165I CD300E_ENST00000426295.2_Missense_Mutation_p.T179I|CD300E_ENST00000328630.3_Missense_Mutation_p.T138I NM_181449.2 NP_852114.2 Q496F6 CLM2_HUMAN CD300e molecule 138 integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 GGCTGGATGTGTGGTCCTCCT 0.562000 19 13 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158487537 158487537 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr6:158487537G>T ENST00000355585.4 + 12 1662 c.1587G>T c.(1585-1587)cgG>cgT p.R529R SYNJ2_ENST00000367122.2_Silent_p.R529R|SYNJ2_ENST00000367121.3_Silent_p.R529R|SYNJ2_ENST00000449859.2_Silent_p.R457R NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 529 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) ATTTCAAGCGGATCCGGATTG 0.537000 46 28 2.37825e-27 3.82809e-27 1 1 0 SGIP1 84251 broad.mit.edu 37 1 67205172 67205172 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:67205172T>C ENST00000371037.4 + 22 2263 c.2186T>C c.(2185-2187)aTc>aCc p.I729T SGIP1_ENST00000371035.3_Missense_Mutation_p.I519T|SGIP1_ENST00000371036.3_Missense_Mutation_p.I531T|SGIP1_ENST00000371039.1_Missense_Mutation_p.I532T|SGIP1_ENST00000237247.6_Missense_Mutation_p.I760T|SGIP1_ENST00000435165.2_Missense_Mutation_p.I234T NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 729 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 CTGGTCCCCATCGACGGAGGA 0.532000 12 33 0 0 1 0 0 RHCG 51458 broad.mit.edu 37 15 90020392 90020392 + Silent SNP G G C rs147663877 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr15:90020392G>C ENST00000268122.4 - 8 1226 c.1158C>G c.(1156-1158)acC>acG p.T386T RHCG_ENST00000544600.1_Silent_p.T386T NM_016321.1 NP_057405.1 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 386 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) GTGTTCTTGCGGTCCAGTCCC 0.567000 32 55 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834434 101834434 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:101834434G>T ENST00000506729.1 - 1 286 c.115C>A c.(115-117)Ccg>Acg p.P39T SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P39T|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P39T|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P39T|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P39T Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 39 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GAGGACTTCGGGGTTCCCTTG 0.597000 88 128 1.3466e-33 2.22097e-33 1 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37431000 37431000 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:37431000C>G ENST00000374660.1 + 7 1106 c.1007C>G c.(1006-1008)cCt>cGt p.P336R ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P336R|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P336R Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 392 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.P336R(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GAAGACACACCTAGGGAAATT 0.428000 14 72 0 0 1 0 0 CNGA4 1262 broad.mit.edu 37 11 6263054 6263054 + Silent SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:6263054T>A ENST00000533426.1 + 5 769 c.618T>A c.(616-618)ggT>ggA p.G206G CNGA4_ENST00000379936.2_Intron Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 564 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGGGTGGGGTAGGGGGGAAC 0.532000 36 32 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30991502 30991502 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr16:30991502G>T ENST00000262519.8 + 14 5081 c.4395G>T c.(4393-4395)tgG>tgT p.W1465C NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1465 Interaction with ASH2L, RBBP5 and WDR5. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 ACACTCACTGGGTCCATCACA 0.632000 10 11 2.17888e-05 2.43807e-05 1 1 0 POU6F2 11281 broad.mit.edu 37 7 39379567 39379567 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:39379567C>A ENST00000518318.2 + 5 880 c.838C>A c.(838-840)Cca>Aca p.P280T POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.P280T|POU6F2_ENST00000559001.1_Missense_Mutation_p.P272T P78424 PO6F2_HUMAN POU class 6 homeobox 2 280 Gln-rich.|Pro-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 TAGTCAGTCTCCAGGACATGG 0.612000 18 45 7.45023e-12 9.98894e-12 1 1 0 POM121L12 285877 broad.mit.edu 37 7 53103433 53103433 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:53103433G>T ENST00000408890.4 + 1 85 c.69G>T c.(67-69)ctG>ctT p.L23L NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 23 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 AACCCCTGCTGCAAGGCCCCG 0.711000 9 16 0.0477658 0.0482466 1 1 0 SLC25A2 83884 broad.mit.edu 37 5 140683432 140683432 + Translation_Start_Site SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:140683432T>C ENST00000239451.4 - 1 180 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_031947.2 NP_114153.1 Q9BXI2 ORNT2_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 1 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) CCGGACTTCATGTTCGCTCAC 0.632000 14 18 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109475613 109475613 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr13:109475613C>A ENST00000356711.2 + 9 1144 c.1018C>A c.(1018-1020)Ctg>Atg p.L340M MYO16_ENST00000251041.5_Missense_Mutation_p.L340M|MYO16_ENST00000357550.2_Missense_Mutation_p.L340M NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 340 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TCTTCCCGTACTGTCGAGTAA 0.433000 47 36 1.00953e-15 1.46443e-15 1 1 0 RAP1GAP 5909 broad.mit.edu 37 1 21926000 21926000 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:21926000T>C ENST00000542643.2 - 23 2143 c.1841A>G c.(1840-1842)gAg>gGg p.E614G RAP1GAP_ENST00000374763.2_Missense_Mutation_p.E673G|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.E588G|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.E652G|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.E619G NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 588 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) GCCTGTGTCCTCTCCGTCCAC 0.657000 10 61 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 391044 391044 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:391044C>T ENST00000256509.2 + 10 1493 c.851C>T c.(850-852)cCa>cTa p.P284L CHL1_ENST00000397491.2_Missense_Mutation_p.P268L NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 268 Ig-like C2-type 3. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) ttttGCAGGCCAACTCCACAG 0.343000 22 49 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55782795 55782795 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:55782795C>G ENST00000373965.2 - 20 2798 c.2404G>C c.(2404-2406)Gca>Cca p.A802P PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.A800P|PCDH15_ENST00000395438.1_Missense_Mutation_p.A795P|PCDH15_ENST00000395433.1_Missense_Mutation_p.A773P|PCDH15_ENST00000409834.1_Missense_Mutation_p.A406P|PCDH15_ENST00000320301.6_Missense_Mutation_p.A795P|PCDH15_ENST00000361849.3_Missense_Mutation_p.A795P|PCDH15_ENST00000395430.1_Missense_Mutation_p.A795P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A724P|PCDH15_ENST00000373955.1_Missense_Mutation_p.A795P|PCDH15_ENST00000395432.2_Missense_Mutation_p.A758P|PCDH15_ENST00000395445.1_Missense_Mutation_p.A802P NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 795 Cadherin 7. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GGGTGTACTGCTCCATCTGTT 0.428000 HNSCC(58;0.16) 24 59 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50765733 50765733 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:50765733G>T ENST00000404971.1 - 11 3260 c.1921C>A c.(1921-1923)Cct>Act p.P641T NRXN1_ENST00000405472.3_Missense_Mutation_p.P593T|NRXN1_ENST00000401669.2_Missense_Mutation_p.P601T|NRXN1_ENST00000406316.2_Missense_Mutation_p.P601T|NRXN1_ENST00000406859.3_Missense_Mutation_p.P601T|NRXN1_ENST00000402717.3_Missense_Mutation_p.P593T|NRXN1_ENST00000331040.5_5'UTR NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 601 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CTCTCACCAGGAGCAGTGTAG 0.483000 13 64 5.50884e-06 6.25721e-06 1 1 0 C2orf57 165100 broad.mit.edu 37 2 232457722 232457722 + Silent SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:232457722A>T ENST00000313965.2 + 1 148 c.60A>T c.(58-60)ccA>ccT p.P20P NM_152614.2 NP_689827.2 Q53QW1 CB057_HUMAN chromosome 2 open reading frame 57 20 endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 19 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) AGGACAGCCCAGCAGGAGAGC 0.617000 21 54 0 0 1 0 0 HCST 10870 broad.mit.edu 37 19 36394674 36394674 + Splice_Site SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:36394674G>A ENST00000246551.4 + 3 224 c.109_splice c.e3-1 p.G37_splice HCST_ENST00000437550.2_Splice_Site_p.G37_splice Q9UBK5 HCST_HUMAN hematopoietic cell signal transducer 37 regulation of immune response integral to membrane|plasma membrane lung(4) 4 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CACTCTCCAGGCTCTTGTTCC 0.667000 8 28 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197404183 197404183 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:197404183A>G ENST00000367397.1 + 5 2191 c.1333A>G c.(1333-1335)Agc>Ggc p.S445G CRB1_ENST00000535699.1_Missense_Mutation_p.S1040G|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.S952G|CRB1_ENST00000367400.3_Missense_Mutation_p.S1064G|CRB1_ENST00000544212.1_Missense_Mutation_p.S545G P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1064 EGF-like 11. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTTTGTGACCAGCACAATTGC 0.468000 30 97 0 0 1 0 0 OR2T1 26696 broad.mit.edu 37 1 248570230 248570230 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:248570230C>A ENST00000366474.1 + 1 935 c.935C>A c.(934-936)cCa>cAa p.P312Q NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TACATGCTGCCACATTCTTAC 0.517000 64 73 5.5144e-22 8.62252e-22 1 1 0 KCNB2 9312 broad.mit.edu 37 8 73850036 73850036 + Silent SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:73850036T>C ENST00000523207.1 + 3 3034 c.2446T>C c.(2446-2448)Tta>Cta p.L816L NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 816 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CGAAGACTTCTTAGAGCTCCC 0.517000 36 56 0 0 1 0 0 BCL2L1 598 broad.mit.edu 37 20 30309575 30309575 + Silent SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr20:30309575T>C ENST00000307677.4 - 2 857 c.447A>G c.(445-447)gcA>gcG p.A149A BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000376062.2_Silent_p.A149A|BCL2L1_ENST00000420653.1_Silent_p.A149A NM_138578.1 NP_612815.1 Q07817 B2CL1_HUMAN BCL2-like 1 149 induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) CCACGCACAGTGCCCCGCCGA 0.537000 63 160 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884783 24884783 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr14:24884783G>T ENST00000382554.3 + 9 4146 c.3828G>T c.(3826-3828)caG>caT p.Q1276H NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1276 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CCCTCCTCCAGGGCCTGCTGG 0.632000 37 31 1.42033e-22 2.23248e-22 1 1 0 SERF2 10169 broad.mit.edu 37 15 44085915 44085915 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr15:44085915G>T ENST00000381359.1 + 5 1053 c.124G>T c.(124-126)Gag>Tag p.E42* SERF2_ENST00000402131.1_Nonsense_Mutation_p.E28*|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409960.2_Silent_p.R86R|SERF2_ENST00000409614.1_Nonsense_Mutation_p.E28*|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000403425.1_Nonsense_Mutation_p.E28*|SERF2_ENST00000594896.1_Intron|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000249786.4_Nonsense_Mutation_p.E42*|SERF2_ENST00000339624.5_Silent_p.R49R NM_001199877.1 NP_001186806.1 P84101 SERF2_HUMAN small EDRK-rich factor 2 42 cytosol|nucleus lung(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) CAGGGACTCGGAGATCATGCA 0.537000 30 61 1.2476e-16 1.83632e-16 1 1 0 SLC32A1 140679 broad.mit.edu 37 20 37353530 37353530 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr20:37353530C>A ENST00000217420.1 + 1 426 c.163C>A c.(163-165)Cgc>Agc p.R55S NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 55 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CTTTGAGCACCGCCAGGGCCT 0.647000 12 22 1.08611e-07 1.28455e-07 1 1 0 ADAM2 2515 broad.mit.edu 37 8 39679175 39679175 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:39679175A>G ENST00000265708.4 - 5 377 c.274T>C c.(274-276)Tgc>Cgc p.C92R ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Missense_Mutation_p.C92R|ADAM2_ENST00000347580.4_Missense_Mutation_p.C92R|ADAM2_ENST00000521880.1_Missense_Mutation_p.C92R NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 92 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TGGTAGTGGCAGAAATTCTGA 0.303000 9 28 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580183 140580183 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:140580183A>G ENST00000354757.3 + 1 836 c.836A>G c.(835-837)tAt>tGt p.Y279C PCDHB11_ENST00000536699.1_5'UTR NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 279 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAATATGCTATACCTTTTCC 0.378000 38 165 0 0 1 0 0 FAM13C 220965 broad.mit.edu 37 10 61022232 61022232 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:61022232C>G ENST00000373867.3 - 11 1414 c.949G>C c.(949-951)Gag>Cag p.E317Q FAM13C_ENST00000422313.2_Missense_Mutation_p.E400Q|FAM13C_ENST00000373868.2_Missense_Mutation_p.E400Q|FAM13C_ENST00000435852.2_Missense_Mutation_p.E400Q|FAM13C_ENST00000442566.3_Missense_Mutation_p.E421Q|FAM13C_ENST00000468840.2_Missense_Mutation_p.E317Q|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000277705.6_Missense_Mutation_p.E421Q NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 400 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TCTCTTCTCTCCTTCAGGCAT 0.532000 12 45 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44859700 44859700 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr15:44859700T>A ENST00000261866.7 - 36 6692 c.6676A>T c.(6676-6678)Agc>Tgc p.S2226C SPG11_ENST00000535302.2_Missense_Mutation_p.S2113C|SPG11_ENST00000427534.2_Missense_Mutation_p.S2226C NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 2226 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CGGCACATGCTGAAGCACAGG 0.552000 22 33 0 0 1 0 0 CEBPG 1054 broad.mit.edu 37 19 33870449 33870449 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:33870449G>T ENST00000284000.3 + 2 966 c.304G>T c.(304-306)Gaa>Taa p.E102* NM_001252296.1|NM_001806.3 NP_001239225.1|NP_001797.1 P53567 CEBPG_HUMAN CCAAT/enhancer binding protein (C/EBP), gamma 102 Leucine-zipper. B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2) 7 Esophageal squamous(110;0.137) AGAAGAGAATGAACGGTTGGA 0.433000 18 27 1.99824e-07 2.33128e-07 1 1 0 PCDHGA4 56111 broad.mit.edu 37 5 140737010 140737010 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:140737010C>A ENST00000571252.1 + 1 2243 c.2243C>A c.(2242-2244)gCt>gAt p.A748D PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGGTTCGGGCTTTCCTGCAG 0.612000 40 46 1.66425e-11 2.21165e-11 1 1 0 LEPREL2 10536 broad.mit.edu 37 12 6938928 6938928 + RNA SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:6938928G>A ENST00000251761.8 + 0 531 LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA NM_014262.3 NP_055077.2 leprecan-like 2 breast(1)|cervix(1)|endometrium(2)|lung(6) 10 GGCACCCAGAGTGTGTGTCTG 0.647000 OREG0021637 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 31 0 0 1 0 0 ETV6 2120 broad.mit.edu 37 12 12022774 12022774 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:12022774G>T ENST00000396373.4 + 5 1154 c.880G>T c.(880-882)Gag>Tag p.E294* NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 294 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CAGGCTCTCCGAGGACGGGCT 0.587000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 68 67 1.1794e-34 1.95593e-34 1 1 0 C8A 731 broad.mit.edu 37 1 57372451 57372451 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:57372451G>T ENST00000361249.3 + 8 1304 c.1208G>T c.(1207-1209)gGa>gTa p.G403V NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 403 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 AAAAAATTTGGAGGTGGCAAA 0.403000 23 111 9.95505e-16 1.44757e-15 1 1 0 RTDR1 27156 broad.mit.edu 37 22 23401822 23401822 + Missense_Mutation SNP G G T rs145071477 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr22:23401822G>T ENST00000216036.4 - 7 1061 c.865C>A c.(865-867)Cgc>Agc p.R289S NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 289 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) GCATTCAGGCGCGCTATGGTC 0.657000 25 79 3.01185e-09 3.7539e-09 1 1 0 LRGUK 136332 broad.mit.edu 37 7 133932320 133932320 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:133932320A>G ENST00000285928.2 + 17 2065 c.1996A>G c.(1996-1998)Ata>Gta p.I666V NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 666 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 AAGAGATTCTATACACAGACA 0.378000 14 54 0 0 1 0 0 SOX30 11063 broad.mit.edu 37 5 157078207 157078207 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:157078207C>G ENST00000265007.6 - 1 1221 c.880G>C c.(880-882)Gtg>Ctg p.V294L SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.V294L NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 294 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTAGTAGGCACTGGTGTCAGG 0.547000 19 76 0 0 1 0 0 ANAPC4 29945 broad.mit.edu 37 4 25395985 25395985 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:25395985G>C ENST00000315368.3 + 12 1072 c.930G>C c.(928-930)tgG>tgC p.W310C ANAPC4_ENST00000510092.1_Missense_Mutation_p.W310C NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 310 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) TGCTATTATGGGGGAAAGCAA 0.303000 11 27 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115405668 115405668 + Silent SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:115405668T>C ENST00000369358.4 - 11 1270 c.1026A>G c.(1024-1026)aaA>aaG p.K342K NRAP_ENST00000369360.3_Silent_p.K342K|NRAP_ENST00000359988.3_Silent_p.K342K|NRAP_ENST00000360478.3_Silent_p.K342K Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 342 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GTGCAGCGCCTTTCATCTTAT 0.458000 13 54 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50856618 50856618 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:50856618C>T ENST00000395562.2 + 10 1570 c.1101C>T c.(1099-1101)gtC>gtT p.V367V CHAT_ENST00000351556.3_Silent_p.V331V|CHAT_ENST00000337653.2_Silent_p.V449V|CHAT_ENST00000395559.2_Silent_p.V331V|CHAT_ENST00000455728.2_Silent_p.V331V|CHAT_ENST00000339797.1_Silent_p.V331V NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 449 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) ATGGCATCGTCCTGGTGCAGT 0.602000 5 8 0 0 1 0 0 GMCL1 64395 broad.mit.edu 37 2 70092042 70092042 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:70092042A>G ENST00000282570.3 + 11 1404 c.1153A>G c.(1153-1155)Atc>Gtc p.I385V NM_178439.3 NP_848526.1 Q96IK5 GMCL1_HUMAN germ cell-less, spermatogenesis associated 1 385 cell differentiation|multicellular organismal development|spermatogenesis nuclear matrix endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 15 GCCTCAAGAAATCAATAAAGA 0.313000 12 49 0 0 1 0 0 USP17L2 377630 broad.mit.edu 37 8 11994828 11994828 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:11994828T>A ENST00000333796.3 - 1 1758 c.1442A>T c.(1441-1443)gAa>gTa p.E481V FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 481 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 GCTTTGCTGTTCAGGATGATG 0.512000 7 94 0 0 1 0 0 AASDH 132949 broad.mit.edu 37 4 57215643 57215643 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:57215643C>A ENST00000205214.6 - 11 2454 c.2274G>T c.(2272-2274)agG>agT p.R758S AASDH_ENST00000434343.2_Missense_Mutation_p.R273S|AASDH_ENST00000451613.1_Missense_Mutation_p.R758S|AASDH_ENST00000502617.1_Missense_Mutation_p.R758S|AASDH_ENST00000602986.1_Missense_Mutation_p.R605S|AASDH_ENST00000513376.1_Missense_Mutation_p.R658S NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 758 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) CTGACCTCCACCTCACATGTA 0.438000 38 75 6.90743e-12 9.30262e-12 1 1 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338633 13338633 + RNA SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:13338633G>A ENST00000602906.1 + 0 448 kidney(3)|lung(1) 4 TATTGGTAGGGGTACCAAAGT 0.478000 35 49 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35616947 35616947 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:35616947C>A ENST00000287272.2 + 13 2086 c.2066C>A c.(2065-2067)cCc>cAc p.P689H UNC5D_ENST00000420357.1_Missense_Mutation_p.P691H|UNC5D_ENST00000404895.2_Missense_Mutation_p.P758H|UNC5D_ENST00000416672.1_Missense_Mutation_p.P763H|UNC5D_ENST00000453357.2_Missense_Mutation_p.P753H|UNC5D_ENST00000449677.1_Missense_Mutation_p.P334H Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 758 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CTTGATATTCCCCCATTCCTC 0.448000 26 170 2.79863e-10 3.63098e-10 1 1 0 PCDHB12 56124 broad.mit.edu 37 5 140588594 140588594 + Missense_Mutation SNP T T G rs113934136 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:140588594T>G ENST00000239450.2 + 1 304 c.115T>G c.(115-117)Ttg>Gtg p.L39V PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 39 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GATGGAGGAATTGCAGAGCGG 0.517000 12 89 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31355345 31355345 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr15:31355345G>T ENST00000542188.1 - 7 1305 c.992C>A c.(991-993)gCg>gAg p.A331E TRPM1_ENST00000397795.2_Missense_Mutation_p.A292E|TRPM1_ENST00000256552.6_Missense_Mutation_p.A314E NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 292 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GTACTTGTGCGCAAAGGACAG 0.547000 15 46 3.27435e-08 3.95815e-08 1 1 0 TNR 7143 broad.mit.edu 37 1 175360538 175360538 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:175360538C>A ENST00000367674.1 - 7 2101 c.1393G>T c.(1393-1395)Gat>Tat p.D465Y TNR_ENST00000263525.2_Missense_Mutation_p.D465Y NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 465 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GACGTAACATCGCTGGGGACC 0.527000 7 26 8.12818e-05 8.88052e-05 1 1 0 PKD2 5311 broad.mit.edu 37 4 88959523 88959523 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:88959523C>T ENST00000237596.2 + 4 1030 c.964C>T c.(964-966)Cgg>Tgg p.R322W NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 322 R -> Q (in ADPKD2).|R -> W (in ADPKD2). basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) TCCACGAATACGGCAACTCCG 0.478000 33 49 0 0 1 0 0 EIF3B 8662 broad.mit.edu 37 7 2415130 2415130 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:2415130G>T ENST00000360876.4 + 14 2052 c.1996G>T c.(1996-1998)Gtc>Ttc p.V666F EIF3B_ENST00000397011.2_Missense_Mutation_p.V666F NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 666 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) TGGGCGCTACGTCGTCACCTC 0.567000 27 70 4.59853e-10 5.90259e-10 1 1 0 PPAPDC1A 196051 broad.mit.edu 37 10 122334658 122334658 + Missense_Mutation SNP T T G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:122334658T>G ENST00000398250.1 + 6 813 c.461T>G c.(460-462)cTt>cGt p.L154R PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.L154R|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.L144R|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.L91R NM_001030059.1 NP_001025230.1 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 154 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) TTTTCGGGCCTTGGCTTCACG 0.597000 6 63 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113529268 113529268 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:113529268C>G ENST00000297405.5 - 28 4995 c.4751G>C c.(4750-4752)tGt>tCt p.C1584S CSMD3_ENST00000352409.3_Missense_Mutation_p.C1584S|CSMD3_ENST00000343508.3_Missense_Mutation_p.C1544S|CSMD3_ENST00000455883.2_Missense_Mutation_p.C1480S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1584 Sushi 8. integral to membrane|plasma membrane 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 CATACCTATACAGACTGGTGG 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 23 62 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158590105 158590105 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:158590105G>A ENST00000368148.3 - 44 6452 c.6272C>T c.(6271-6273)tCc>tTc p.S2091F SPTA1_ENST00000368147.3_Missense_Mutation_p.S2088F NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2091 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CCTAGCCAGGGAGGCCAAGAA 0.493000 44 56 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154055960 154055960 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:154055960A>T ENST00000389740.2 - 4 1823 c.1724T>A c.(1723-1725)gTa>gAa p.V575E NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 575 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TTCTGCGCTTACCTCATAGGT 0.463000 67 124 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177133768 177133768 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:177133768C>A ENST00000367654.2 - 1 58 c.45G>T c.(43-45)ggG>ggT p.G15G ASTN1_ENST00000361833.2_Silent_p.G15G|ASTN1_ENST00000424564.2_Silent_p.G15G|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.G15G O14525 ASTN1_HUMAN astrotactin 1 15 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CCGCCGCCGGCCCCCAGCAGC 0.697000 10 10 1.76689e-08 2.15318e-08 1 1 0 KCNH7 90134 broad.mit.edu 37 2 163241264 163241264 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:163241264C>A ENST00000332142.5 - 13 2995 c.2896G>T c.(2896-2898)Gat>Tat p.D966Y NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 966 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TCTTCAAAATCGAGCCCAGAT 0.438000 68 102 1.02487e-32 1.67655e-32 1 1 0 FAM135A 57579 broad.mit.edu 37 6 71234983 71234983 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr6:71234983A>T ENST00000418814.2 + 15 2810 c.2196A>T c.(2194-2196)ttA>ttT p.L732F FAM135A_ENST00000457062.2_Missense_Mutation_p.L519F|FAM135A_ENST00000505868.1_Missense_Mutation_p.L732F|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Missense_Mutation_p.L536F|FAM135A_ENST00000370479.3_Missense_Mutation_p.L519F NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 732 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 TAACTAAATTACGAAGTAATC 0.318000 21 66 0 0 1 0 0 HNRNPF 3185 broad.mit.edu 37 10 43882805 43882805 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:43882805T>C ENST00000443950.2 - 3 1014 c.528A>G c.(526-528)atA>atG p.I176M HNRNPF_ENST00000337970.3_Missense_Mutation_p.I176M|HNRNPF_ENST00000356053.3_Missense_Mutation_p.I176M|HNRNPF_ENST00000544000.1_Missense_Mutation_p.I176M|HNRNPF_ENST00000357065.4_Missense_Mutation_p.I176M NM_001098208.1 NP_001091678.1 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 176 RRM 2. regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding p.I176M(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1) 19 ACCTGTGCCCTATCCTCTCCT 0.552000 26 73 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924844 188924844 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:188924844C>G ENST00000326866.4 + 4 1291 c.883C>G c.(883-885)Cac>Gac p.H295D ZFP42_ENST00000509524.1_Missense_Mutation_p.H295D NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 295 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) CCTGAAAGCCCACATCCTAAC 0.463000 17 24 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36897927 36897927 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:36897927C>G ENST00000429976.2 - 12 3401 c.3154G>C c.(3154-3156)Gtt>Ctt p.V1052L TRANK1_ENST00000428977.2_Missense_Mutation_p.V502L|TRANK1_ENST00000301807.6_Missense_Mutation_p.V502L O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1052 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding p.V502I(2)|p.V1052I(1) NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TCCCAGTAAACGTGGAATTTC 0.532000 8 32 0 0 1 0 0 UBE2I 7329 broad.mit.edu 37 16 1370587 1370587 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr16:1370587G>T ENST00000402301.1 + 5 518 c.482G>T c.(481-483)cGg>cTg p.R161L UBE2I_ENST00000397515.2_Intron|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000355803.4_Intron|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000566587.1_Intron|UBE2I_ENST00000403747.2_Intron|UBE2I_ENST00000397514.3_Intron|UBE2I_ENST00000406620.1_Intron|UBE2I_ENST00000325437.5_Intron P63279 UBC9_HUMAN ubiquitin-conjugating enzyme E2I 39 cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation cytoplasm|PML body|synaptonemal complex ATP binding|enzyme binding|ubiquitin-protein ligase activity breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 5 Hepatocellular(780;0.00369) CTGGCAGGACGGGAGTGGAGG 0.662000 4 21 1.02788e-11 1.369e-11 1 1 0 PCDH15 65217 broad.mit.edu 37 10 55582052 55582052 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:55582052G>A ENST00000361849.3 - 34 5834 c.5440C>T c.(5440-5442)Cct>Tct p.P1814S PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1789S|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1812S|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1809S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1743S|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1772S|PCDH15_ENST00000395445.1_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1812 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ggaaatggaggtagaagaggt 0.507000 HNSCC(58;0.16) 3 33 0 0 1 0 0 PLK3 1263 broad.mit.edu 37 1 45269868 45269868 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:45269868T>A ENST00000372201.4 + 11 1531 c.1292T>A c.(1291-1293)gTg>gAg p.V431E PLK3_ENST00000465443.1_3'UTR NM_004073.2 NP_004064.2 Q9H4B4 PLK3_HUMAN polo-like kinase 3 431 membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) GCCACAGTAGTGGAGTCAGCC 0.562000 27 58 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128863450 128863450 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:128863450C>A ENST00000274487.4 + 5 1223 c.1078C>A c.(1078-1080)Ctt>Att p.L360I CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 360 Peptidase M12B. L -> I (in a breast cancer sample; somatic mutation). proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.L360I(2) NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GGTATTTAACCTTTTCCAACA 0.313000 27 42 3.73808e-20 5.77007e-20 1 1 0 PCDH10 57575 broad.mit.edu 37 4 134075509 134075509 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:134075509C>T ENST00000264360.4 + 2 3505 c.2679C>T c.(2677-2679)cgC>cgT p.R893R NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 893 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R893R(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ACAGACCTCGCCGAGTTAACA 0.358000 7 21 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137642728 137642728 + Splice_Site SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr9:137642728G>T ENST00000371817.3 + 13 2076 c.1662_splice c.e13+1 p.R554_splice NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 554 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGCAGGCCAGGGTGAGTACTG 0.642000 4 14 0.00024832 0.000266944 1 1 0 FAM171B 165215 broad.mit.edu 37 2 187626732 187626732 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:187626732C>T ENST00000304698.5 + 8 1866 c.1663C>T c.(1663-1665)Cat>Tat p.H555Y NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 555 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GGAACAATTACATACTGCTAA 0.443000 19 48 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2523057 2523057 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:2523057A>T ENST00000288709.6 - 23 2392 c.2152T>A c.(2152-2154)Tac>Aac p.Y718N MMEL1_ENST00000378412.3_Missense_Mutation_p.Y727N|MMEL1_ENST00000502556.1_Missense_Mutation_p.Y570N NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 727 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) TCGGGCCGGTAGGACCCGCAC 0.637000 18 57 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30133047 30133047 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr14:30133047T>C ENST00000331968.5 - 4 783 c.554A>G c.(553-555)cAt>cGt p.H185R PRKD1_ENST00000415220.2_Missense_Mutation_p.H185R NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 185 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) ACATCTCTTATGGTAATTCAG 0.378000 46 53 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41751562 41751562 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr22:41751562G>T ENST00000352645.4 + 18 2381 c.2124G>T c.(2122-2124)gaG>gaT p.E708D ZC3H7B_ENST00000351589.4_Missense_Mutation_p.E708D NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 724 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 AGGTGGTGGAGCCTGACAAGG 0.622000 16 21 3.41278e-10 4.41827e-10 1 1 0 FCGR2B 2213 broad.mit.edu 37 1 161642892 161642892 + Missense_Mutation SNP A A C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:161642892A>C ENST00000367962.4 + 4 646 c.519A>C c.(517-519)aaA>aaC p.K173N FCGR2B_ENST00000367961.4_Missense_Mutation_p.K166N|FCGR2B_ENST00000358671.5_Missense_Mutation_p.K173N|FCGR2B_ENST00000428605.2_Missense_Mutation_p.K173N|FCGR2B_ENST00000367960.5_Missense_Mutation_p.K166N|FCGR2B_ENST00000403078.3_Missense_Mutation_p.K173N|FCGR2B_ENST00000236937.9_Missense_Mutation_p.K173N|RP11-25K21.1_ENST00000453111.1_RNA P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) 173 Ig-like C2-type 2. immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AATCCAAGAAATTTTCCCGTT 0.498000 T ? ALL 10 70 0 0 1 0 0 FAM167A 83648 broad.mit.edu 37 8 11301839 11301839 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:11301839G>T ENST00000284486.4 - 2 620 c.82C>A c.(82-84)Cgg>Agg p.R28R FAM167A_ENST00000534308.1_Silent_p.R28R|FAM167A_ENST00000528897.1_Silent_p.R28R NM_053279.2 NP_444509.2 Q96KS9 F167A_HUMAN family with sequence similarity 167, member A 28 breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1) 9 TTCAGGCTCCGGAGGTGGTCA 0.647000 19 111 4.96729e-08 5.9214e-08 1 1 0 ASPHD2 57168 broad.mit.edu 37 22 26830398 26830398 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr22:26830398G>T ENST00000215906.5 + 2 1255 c.817G>T c.(817-819)Gtg>Ttg p.V273L NM_020437.4 NP_065170.2 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 273 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 16 GTGCATCTCTGTGCTGAGCCC 0.552000 53 56 2.0833e-19 3.18311e-19 1 1 0 PIWIL1 9271 broad.mit.edu 37 12 130831129 130831129 + Splice_Site SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:130831129G>T ENST00000245255.3 + 5 803 c.531_splice c.e5+1 p.K177_splice NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 177 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) TACAGCAAAAGGTTATTTGGG 0.413000 23 31 1.10513e-12 1.50859e-12 1 1 0 FABP12 646486 broad.mit.edu 37 8 82441685 82441685 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:82441685G>T ENST00000360464.4 - 2 296 c.234C>A c.(232-234)ggC>ggA p.G78G RP11-257P3.3_ENST00000523380.1_RNA NM_001105281.1 NP_001098751.1 A6NFH5 FBP12_HUMAN fatty acid binding protein 12 78 lipid binding|transporter activity large_intestine(1)|lung(3) 4 TTGTTTTGTGGCCACCTGGCG 0.388000 39 91 5.04308e-16 7.35093e-16 1 1 0 TNFSF10 8743 broad.mit.edu 37 3 172232740 172232740 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:172232740C>A ENST00000241261.2 - 2 303 c.181G>T c.(181-183)Gat>Tat p.D61Y TNFSF10_ENST00000420541.2_Missense_Mutation_p.D61Y NM_003810.3 NP_003801.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 61 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding p.D61N(1) breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TAACTGTCATCTTCTTTTAAG 0.418000 53 81 5.39261e-20 8.28151e-20 1 1 0 MN1 4330 broad.mit.edu 37 22 28193502 28193502 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr22:28193502C>G ENST00000302326.4 - 1 3984 c.3030G>C c.(3028-3030)tgG>tgC p.W1010C NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 1010 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 CCCCCTTCCCCCAGGATGGCG 0.692000 T ETV6 """AML, meningioma""" 20 28 0 0 1 0 0 WDR20 91833 broad.mit.edu 37 14 102675783 102675783 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr14:102675783C>T ENST00000335263.5 + 3 1356 c.1276C>T c.(1276-1278)Ccg>Tcg p.P426S WDR20_ENST00000499851.2_Missense_Mutation_p.P169S|WDR20_ENST00000454394.2_Missense_Mutation_p.P457S|WDR20_ENST00000424963.2_Missense_Mutation_p.P302S|WDR20_ENST00000556807.1_Missense_Mutation_p.P365S|WDR20_ENST00000556511.2_Missense_Mutation_p.P365S|WDR20_ENST00000342702.3_Missense_Mutation_p.P426S|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000545563.1_Missense_Mutation_p.P253S NM_181291.2 NP_851808.1 Q8TBZ3 WDR20_HUMAN WD repeat domain 20 426 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 GAACTCTGTGCCGCCTCCTCT 0.552000 OREG0022939 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 33 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181690944 181690944 + Silent SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:181690944C>G ENST00000526775.1 + 16 2172 c.2007C>G c.(2005-2007)tcC>tcG p.S669S CACNA1E_ENST00000367570.1_Silent_p.S669S|CACNA1E_ENST00000358338.5_Silent_p.S620S|CACNA1E_ENST00000357570.5_Silent_p.S620S|CACNA1E_ENST00000367573.2_Silent_p.S669S|CACNA1E_ENST00000360108.3_Silent_p.S669S|CACNA1E_ENST00000367567.4_Silent_p.S276S NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 669 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GGATCCGCTCCCAGGGTGGGG 0.512000 22 107 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119434506 119434506 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:119434506G>C ENST00000273390.5 + 6 675 c.598G>C c.(598-600)Gtt>Ctt p.V200L MAATS1_ENST00000463700.1_Missense_Mutation_p.V200L NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 GGATGCTGACGTTCAAACAGA 0.463000 53 116 0 0 1 0 0 IGHG4 3503 broad.mit.edu 37 14 106090834 106090834 + RNA SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr14:106090834G>A ENST00000390543.2 - 0 962 GAGACAGGGAGAGGCTCTTCT 0.622000 4 78 0 0 1 0 0 KIF3A 11127 broad.mit.edu 37 5 132037881 132037881 + Missense_Mutation SNP A A C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:132037881A>C ENST00000378746.4 - 13 1919 c.1701T>G c.(1699-1701)caT>caG p.H567Q KIF3A_ENST00000487055.1_5'UTR|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.H594Q|KIF3A_ENST00000378735.1_Missense_Mutation_p.H570Q NM_007054.5 NP_008985.3 Q9Y496 KIF3A_HUMAN kinesin family member 3A 567 blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTTCCCTCTGATGTTCTTGTT 0.393000 8 40 0 0 1 0 0 FGFR4 2264 broad.mit.edu 37 5 176522578 176522578 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:176522578C>A ENST00000292408.4 + 13 1920 c.1675C>A c.(1675-1677)Cgg>Agg p.R559R FGFR4_ENST00000292410.3_Silent_p.R519R|FGFR4_ENST00000393648.2_Silent_p.R491R|FGFR4_ENST00000393637.1_Silent_p.R519R|FGFR4_ENST00000502906.1_Silent_p.R559R NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 559 Protein kinase. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) GGGAAACCTGCGGGAGTTCCT 0.701000 TSP Lung(9;0.080) 5 14 0.0215528 0.0219168 1 1 0 OR8B12 219858 broad.mit.edu 37 11 124413323 124413323 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:124413323G>T ENST00000306842.2 - 1 252 c.228C>A c.(226-228)atC>atA p.I76I NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) TTTTGGGAGTGATGGTAGTGG 0.428000 30 60 2.65835e-16 3.89373e-16 1 1 0 MFAP3L 9848 broad.mit.edu 37 4 170912590 170912590 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:170912590G>C ENST00000361618.3 - 3 1476 c.1169C>G c.(1168-1170)gCc>gGc p.A390G RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.A287G NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 390 integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) TGGCTCTGTGGCTTCCAGGTA 0.478000 33 62 0 0 1 0 0 ZNF33A 7581 broad.mit.edu 37 10 38343493 38343493 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:38343493G>T ENST00000374618.3 + 5 619 c.441G>T c.(439-441)atG>atT p.M147I ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.M146I|ZNF33A_ENST00000432900.2_Missense_Mutation_p.M153I|ZNF33A_ENST00000458705.2_Missense_Mutation_p.M146I NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 146 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 CATGTGGAATGAGTTTCAACA 0.323000 17 58 3.52763e-06 4.02967e-06 1 1 0 TMEM159 57146 broad.mit.edu 37 16 21181851 21181851 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr16:21181851G>C ENST00000233047.4 + 3 658 c.190G>C c.(190-192)Gtt>Ctt p.V64L TMEM159_ENST00000451578.2_Missense_Mutation_p.V88L|TMEM159_ENST00000572599.1_Missense_Mutation_p.V64L|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000261388.3_Missense_Mutation_p.V64L|TMEM159_ENST00000572258.1_Missense_Mutation_p.V64L Q96B96 TM159_HUMAN transmembrane protein 159 64 integral to membrane large_intestine(3)|lung(2)|ovary(1) 6 GBM - Glioblastoma multiforme(48;0.0972) CATGTCGGCCGTTCCTGTTGG 0.537000 49 83 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1077668 1077668 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:1077668C>G ENST00000441003.2 + 3 445 c.418C>G c.(418-420)Cgc>Ggc p.R140G MUC2_ENST00000359061.5_Missense_Mutation_p.R140G NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 140 VWFD 1. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) AGTCTACTCCCGCGCCGGCCT 0.667000 5 12 0 0 1 0 0 SFSWAP 6433 broad.mit.edu 37 12 132199366 132199366 + Splice_Site SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:132199366G>T ENST00000261674.4 + 3 529 c.e3-1 SFSWAP_ENST00000541286.1_Splice_Site NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 TTTTATTCAAGAGGAAGAATA 0.373000 15 24 2.31682e-05 2.58762e-05 1 1 0 CCT6A 908 broad.mit.edu 37 7 56126391 56126391 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:56126391G>T ENST00000275603.4 + 8 1183 c.964G>T c.(964-966)Gag>Tag p.E322* CCT6A_ENST00000540286.1_Nonsense_Mutation_p.E291*|CCT6A_ENST00000335503.3_Nonsense_Mutation_p.E277* NM_001762.3 NP_001753.1 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A (zeta 1) 322 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 15 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GAGAAATATGGAGAGGTATCC 0.328000 11 39 4.3838e-07 5.09469e-07 1 1 0 RAB2A 5862 broad.mit.edu 37 8 61504476 61504476 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:61504476A>G ENST00000262646.7 + 6 773 c.422A>G c.(421-423)cAt>cGt p.H141R RAB2A_ENST00000529579.1_Intron|RAB2A_ENST00000531289.1_Missense_Mutation_p.H117R|RAB2A_ENST00000530071.1_3'UTR NM_002865.2 NP_002856.1 P61019 RAB2A_HUMAN RAB2A, member RAS oncogene family 141 ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome GDP binding|GTP binding|GTPase activity endometrium(1)|large_intestine(1)|lung(4) 6 BRCA - Breast invasive adenocarcinoma(89;0.0805) GCACGAGAACATGGACTCATC 0.348000 28 74 0 0 1 0 0 CSTL1 128817 broad.mit.edu 37 20 23420981 23420981 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr20:23420981A>G ENST00000347397.1 + 2 323 c.77A>G c.(76-78)cAa>cGa p.Q26R CSTL1_ENST00000246020.2_Missense_Mutation_p.Q26R|CSTL1_ENST00000472140.1_3'UTR NM_138283.1 NP_612140.1 Q9H114 CST1L_HUMAN cystatin-like 1 26 extracellular region cysteine-type endopeptidase inhibitor activity breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1) 14 Colorectal(13;0.0993)|Lung NSC(19;0.235) GGTCACTTCCAAAGGTGGGAG 0.507000 20 55 0 0 1 0 0 PCDHGC3 5098 broad.mit.edu 37 5 140857205 140857205 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:140857205C>A ENST00000308177.3 + 1 1626 c.1522C>A c.(1522-1524)Cgc>Agc p.R508S PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTAGTGGGTCGCTATTTCAC 0.488000 11 70 3.86212e-05 4.28176e-05 1 1 0 PIPSL 266971 broad.mit.edu 37 10 95719896 95719896 + RNA SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:95719896C>T ENST00000480546.1 - 0 1401 NR_002319.2 CTGGAGCCTGCTCGCTGAGAG 0.502000 10 49 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57164480 57164480 + Nonsense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:57164480C>T ENST00000504228.1 + 2 190 c.85C>T c.(85-87)Cag>Tag p.Q29* KIAA1211_ENST00000264229.6_Nonsense_Mutation_p.Q29*|KIAA1211_ENST00000541073.1_Silent_p.H14H Q6ZU35 K1211_HUMAN KIAA1211 29 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) AGCAATGTCACAGGACAACAT 0.478000 27 22 0 0 1 0 0 KLK6 5653 broad.mit.edu 37 19 51466764 51466764 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:51466764C>A ENST00000376851.3 - 4 678 c.239G>T c.(238-240)aGg>aTg p.R80M KLK6_ENST00000424910.2_Missense_Mutation_p.G28W|KLK6_ENST00000391808.1_De_novo_Start_InFrame|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.R80M|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000594641.1_Missense_Mutation_p.R80M NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 80 Peptidase S1. Cleavage; by autolysis. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) GGAACTCTCCCTTTGCCGAAG 0.582000 4 57 1.76689e-08 2.15318e-08 1 1 0 GABRG2 2566 broad.mit.edu 37 5 161520839 161520839 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:161520839C>A ENST00000356592.3 + 2 573 c.113C>A c.(112-114)aCt>aAt p.T38N GABRG2_ENST00000361925.4_Missense_Mutation_p.T38N|GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000414552.2_Missense_Mutation_p.T38N NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 38 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|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CTTAGCTTCACTAGCCAGAAA 0.363000 11 50 4.68919e-08 5.62329e-08 1 1 0 HOXA10 3206 broad.mit.edu 37 7 27213351 27213351 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:27213351G>A ENST00000283921.4 - 1 574 c.575C>T c.(574-576)cCg>cTg p.P192L RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000396344.4_Intron|RP1-170O19.20_ENST00000470747.4_Intron NM_018951.3 NP_061824.3 P31260 HXA10_HUMAN homeobox A10 192 P -> R (in Ref. 1; CAB86198). spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 9 CGGGCCCCGCGGGAAGGGAGC 0.682000 4 2 0 0 1 0 0 SLC35F6 54978 broad.mit.edu 37 2 27001203 27001203 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:27001203G>T ENST00000344420.5 + 6 1002 c.940G>T c.(940-942)Gcc>Tcc p.A314S SLC35F6_ENST00000416475.2_Missense_Mutation_p.A231S|CENPA_ENST00000475662.1_Intron NM_017877.3 NP_060347.2 solute carrier family 35, member F6 GGGCTGGGAGGCCTTCCATGC 0.617000 30 70 2.80507e-11 3.70319e-11 1 1 0 MZT2B 80097 broad.mit.edu 37 2 130948088 130948088 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:130948088G>A ENST00000281871.6 + 3 721 c.366G>A c.(364-366)gcG>gcA p.A122A MZT2B_ENST00000409255.1_Silent_p.A182A NM_025029.3 NP_079305.2 Q6NZ67 MZT2B_HUMAN mitotic spindle organizing protein 2B 122 centrosome|gamma-tubulin ring complex|spindle protein binding lung(1) 1 TGGCCCTGGCGGAACGCAGCA 0.657000 14 20 0 0 1 0 0 OR4C46 119749 broad.mit.edu 37 11 51515674 51515674 + Missense_Mutation SNP G G T rs143619747 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:51515674G>T ENST00000328188.1 + 1 393 c.393G>T c.(391-393)atG>atT p.M131I NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 TGCACTATATGACTATCATGA 0.478000 54 113 5.08636e-23 8.01568e-23 1 1 0 PLBD2 196463 broad.mit.edu 37 12 113824843 113824843 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:113824843G>A ENST00000280800.3 + 10 1419 c.1388G>A c.(1387-1389)cGg>cAg p.R463Q PLBD2_ENST00000545182.2_Missense_Mutation_p.R431Q NM_173542.3 NP_775813.2 Q8NHP8 PLBL2_HUMAN phospholipase B domain containing 2 463 lipid catabolic process lysosomal lumen hydrolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 CAGATCTTCCGGCGGAACCAG 0.602000 13 83 0 0 1 0 0 MAEL 84944 broad.mit.edu 37 1 166961995 166961995 + Missense_Mutation SNP G G C rs113109340 byFrequency TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:166961995G>C ENST00000367872.4 + 4 642 c.398G>C c.(397-399)cGc>cCc p.R133P MAEL_ENST00000367870.2_Missense_Mutation_p.R102P|MAEL_ENST00000491055.1_3'UTR NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 133 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 TGTGAACAGCGCTTCCTCCCT 0.368000 39 61 0 0 1 0 0 TEAD2 8463 broad.mit.edu 37 19 49854623 49854623 + Splice_Site SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:49854623C>T ENST00000377214.4 - 6 899 c.e6-1 TEAD2_ENST00000593945.1_Splice_Site|TEAD2_ENST00000539846.1_Splice_Site|TEAD2_ENST00000311227.2_Splice_Site|TEAD2_ENST00000601519.1_Splice_Site|TEAD2_ENST00000598810.1_Splice_Site|TEAD2_ENST00000598397.1_Splice_Site Q15562 TEAD2_HUMAN TEA domain family member 2 hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) TGGCTTCACACTGAGGGAAAA 0.527000 4 16 0 0 1 0 0 CD40 958 broad.mit.edu 37 20 44750496 44750496 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr20:44750496A>T ENST00000372285.3 + 2 161 c.89A>T c.(88-90)cAg>cTg p.Q30L CD40_ENST00000372276.3_Missense_Mutation_p.Q30L|CD40_ENST00000489304.1_3'UTR NM_001250.4 NP_001241.1 P25942 TNR5_HUMAN CD40 molecule, TNF receptor superfamily member 5 30 B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly CD40 receptor complex|extracellular region enzyme binding|receptor activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Myeloproliferative disorder(115;0.0122) Simvastatin(DB00641) AGAGAAAAACAGTACCTAATA 0.483000 Immune Deficiency with Hyper-IgM 30 62 0 0 1 0 0 C9orf170 401535 broad.mit.edu 37 9 89763778 89763778 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr9:89763778G>A ENST00000375941.2 + 1 220 c.133G>A c.(133-135)Gcc>Acc p.A45T NM_001001709.2 NP_001001709.1 A2RU37 CI170_HUMAN chromosome 9 open reading frame 170 45 large_intestine(3)|lung(2)|prostate(1) 6 GGGAGGCCTGGCCTCCTGCTC 0.602000 14 21 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46067503 46067503 + Silent SNP A A C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:46067503A>C ENST00000295452.4 - 4 587 c.420T>G c.(418-420)gtT>gtG p.V140V NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 140 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) AAATTTTTCCAACCATATTAC 0.343000 7 51 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885901 88885901 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:88885901C>T ENST00000319675.3 - 1 395 c.299G>A c.(298-300)gGc>gAc p.G100D NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 100 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GGTGATGATGCCGTACTTGGA 0.547000 39 92 0 0 1 0 0 DVL1 1855 broad.mit.edu 37 1 1278086 1278086 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:1278086C>A ENST00000378888.5 - 2 507 c.223G>T c.(223-225)Ggc>Tgc p.G75C DVL1_ENST00000378891.5_Missense_Mutation_p.G75C O14640 DVL1_HUMAN dishevelled segment polarity protein 1 75 DIX. canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ACCACGCGGCCGTTGAAGCAG 0.657000 18 20 6.49762e-13 8.93052e-13 1 1 0 TTC12 54970 broad.mit.edu 37 11 113234603 113234603 + Silent SNP G G T rs34940277 byFrequency TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:113234603G>T ENST00000393020.1 + 20 2175 c.1770G>T c.(1768-1770)acG>acT p.T590T TTC12_ENST00000483239.2_Silent_p.T596T|TTC12_ENST00000314756.3_Silent_p.T590T|TTC12_ENST00000529221.1_Silent_p.T590T Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 590 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) CTATCTGCACGAATAGTTATC 0.388000 21 26 1.87028e-06 2.15692e-06 1 1 0 KIZ-AS1 101929591 broad.mit.edu 37 20 21195337 21195337 + RNA SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr20:21195337A>G ENST00000591761.1 - 0 119 RP4-777D9.2_ENST00000433213.2_RNA|PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000443753.1_RNA CAAGGGAACAAGGTAACTATT 0.403000 14 32 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204971852 204971852 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:204971852G>A ENST00000367172.4 + 29 3914 c.3586G>A c.(3586-3588)Gtc>Atc p.V1196I NFASC_ENST00000360049.4_Intron|NFASC_ENST00000401399.1_Missense_Mutation_p.V1089I|NFASC_ENST00000338586.6_Missense_Mutation_p.V1073I|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.V1181I|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367170.4_Missense_Mutation_p.V1117I|NFASC_ENST00000339876.6_Missense_Mutation_p.V1089I O94856 NFASC_HUMAN neurofascin 1196 Fibronectin type-III 5. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CAGCAGTACCGTCATCACCTT 0.557000 3 45 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55979502 55979502 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:55979502G>T ENST00000263923.4 - 7 1240 c.945C>A c.(943-945)acC>acA p.T315T NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 315 Ig-like C2-type 3. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TGTTCTTCTTGGTCATCAGCC 0.418000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 20 92 7.45023e-12 9.98894e-12 1 1 0 PER2 8864 broad.mit.edu 37 2 239164312 239164312 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:239164312T>A ENST00000254657.3 - 18 2585 c.2306A>T c.(2305-2307)cAg>cTg p.Q769L PER2_ENST00000254658.3_3'UTR NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 769 CSNK1E binding domain (By similarity). circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) TTCACTTGGCTGCCCCTTGGA 0.408000 49 157 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44856266 44856266 + Splice_Site SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr20:44856266C>T ENST00000372262.3 - 3 951 c.550_splice c.e3-1 p.G184_splice CDH22_ENST00000537909.1_Splice_Site_p.G184_splice NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 184 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CACCGACGTGCCTGGGCCCGG 0.682000 8 13 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72432719 72432719 + Splice_Site SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:72432719A>G ENST00000340595.3 + 22 3260 c.e22-1 SLC4A4_ENST00000351898.6_Splice_Site|SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000264485.5_Splice_Site NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TTTATTTTCCAGGAGAAAGAT 0.353000 13 40 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74091115 74091115 + Silent SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr18:74091115T>A ENST00000443185.2 - 4 3272 c.2955A>T c.(2953-2955)ccA>ccT p.P985P ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 985 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) TTGCAGGAGGTGGACCCTGAG 0.662000 7 18 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38897386 38897386 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr6:38897386C>G ENST00000359357.3 + 73 10821 c.10567C>G c.(10567-10569)Cca>Gca p.P3523A DNAH8_ENST00000449981.2_Missense_Mutation_p.P3740A|DNAH8_ENST00000441566.1_Missense_Mutation_p.P3487A|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000453417.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGAGCTGGATCCAGCCTTGGA 0.383000 19 83 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75186957 75186957 + Splice_Site SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:75186957C>A ENST00000336926.6 - 16 1608 c.e16+1 HIP1_ENST00000434438.2_Splice_Site NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GTCCCACTCACCTTCCGCTGG 0.592000 T PDGFRB CMML 45 137 4.44401e-20 6.84219e-20 1 1 0 CABIN1 23523 broad.mit.edu 37 22 24447324 24447324 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr22:24447324G>T ENST00000398319.2 + 8 1079 c.694G>T c.(694-696)Gag>Tag p.E232* CABIN1_ENST00000405822.2_Intron|CABIN1_ENST00000263119.5_Nonsense_Mutation_p.E232* NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 232 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GAGTGCAGCTGAGACACAGGC 0.478000 20 44 6.33239e-15 9.05486e-15 1 1 0 OR4A16 81327 broad.mit.edu 37 11 55111539 55111539 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:55111539G>C ENST00000314721.2 + 1 913 c.863G>C c.(862-864)aGa>aCa p.R288T NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 TACTCGTTGAGACAATCAGAG 0.313000 12 45 0 0 1 0 0 OSBPL5 114879 broad.mit.edu 37 11 3111787 3111787 + Splice_Site SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:3111787C>A ENST00000263650.7 - 20 2558 c.e20+1 OSBPL5_ENST00000348039.5_Splice_Site|OSBPL5_ENST00000542243.1_Splice_Site|OSBPL5_ENST00000478260.1_Splice_Site|OSBPL5_ENST00000389989.3_Splice_Site|OSBPL5_ENST00000525498.1_Splice_Site NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) AGGGGGCTCACCAGGGACAAA 0.662000 29 24 1.68575e-08 2.06685e-08 1 1 0 ZSCAN4 201516 broad.mit.edu 37 19 58187610 58187610 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:58187610G>C ENST00000318203.5 + 3 794 c.97G>C c.(97-99)Gtt>Ctt p.V33L NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 33 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGGACCTGCTGTTCAGAGAGA 0.383000 26 61 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78737817 78737817 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:78737817C>A ENST00000436010.2 - 7 2031 c.1034G>T c.(1033-1035)tGg>tTg p.W345L ROBO1_ENST00000467549.1_Missense_Mutation_p.W348L|ROBO1_ENST00000495273.1_Missense_Mutation_p.W348L|ROBO1_ENST00000464233.1_Missense_Mutation_p.W384L Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 384 Ig-like C2-type 3. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TTCTCTCCTCCAGAAAATAGC 0.408000 4 7 0.00024832 0.000266944 1 1 0 MEIS3 56917 broad.mit.edu 37 19 47912374 47912374 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:47912374C>G ENST00000331559.5 - 8 1230 c.789G>C c.(787-789)tgG>tgC p.W263C MEIS3_ENST00000561096.1_Missense_Mutation_p.W368C|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000559524.1_Missense_Mutation_p.W280C|MEIS3_ENST00000561293.1_Missense_Mutation_p.W280C|MEIS3_ENST00000441740.2_Missense_Mutation_p.W263C|MEIS3_ENST00000558555.1_Missense_Mutation_p.W280C NM_020160.2 NP_064545.1 Q99687 MEIS3_HUMAN Meis homeobox 3 280 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2) 20 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) GCTGGAACAACCAGGCTCGCA 0.592000 22 69 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145111105 145111105 + Nonsense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:145111105C>A ENST00000426825.1 - 15 2122 c.2041G>T c.(2041-2043)Gag>Tag p.E681* OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 681 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) TAGCCCAGCTCTGCCAGCAGG 0.642000 9 72 0.000673444 0.000716278 1 1 0 LAMB1 3912 broad.mit.edu 37 7 107642164 107642164 + Nonsense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:107642164G>A ENST00000393561.1 - 1 308 c.124C>T c.(124-126)Cga>Tga p.R42* LAMB1_ENST00000222399.6_Nonsense_Mutation_p.R18*|LAMB1_ENST00000393560.1_Nonsense_Mutation_p.R18* P07942 LAMB1_HUMAN laminin, beta 1 18 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCGCGCACTCGGGCTCTGCAC 0.642000 5 9 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53959230 53959230 + RNA SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:53959230G>T ENST00000454407.1 + 0 1922 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ATTCATACTGGAGAGAAACCA 0.408000 32 78 9.65021e-13 1.32333e-12 1 1 0 PRSS55 203074 broad.mit.edu 37 8 10390478 10390478 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:10390478G>C ENST00000328655.3 + 4 701 c.661G>C c.(661-663)Gag>Cag p.E221Q PRSS55_ENST00000522210.1_Missense_Mutation_p.E221Q|PRSS51_ENST00000523024.1_RNA NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 221 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 GGACTGGGAGGAGTGTTCAAA 0.478000 21 55 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769170 247769170 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:247769170G>A ENST00000320002.2 + 1 315 c.283G>A c.(283-285)Ggt>Agt p.G95S RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GATCACTTACGGTGGTTGTGT 0.473000 45 261 0 0 1 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33110700 33110700 + Silent SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr13:33110700T>C ENST00000267068.3 - 2 629 c.465A>G c.(463-465)caA>caG p.Q155Q N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000446957.2_Silent_p.Q155Q|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Intron NM_014887.2 NP_055702.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 155 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) GTTTCTCTTTTTGTCCTCCTC 0.338000 52 60 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78452838 78452838 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:78452838C>T ENST00000397909.2 + 12 2752 c.2579C>T c.(2578-2580)gCa>gTa p.A860V RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000266692.7_Missense_Mutation_p.A860V|NAV3_ENST00000228327.6_Missense_Mutation_p.A860V|NAV3_ENST00000536525.2_Missense_Mutation_p.A860V Q8IVL0 NAV3_HUMAN neuron navigator 3 860 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CCAGACACAGCAACTTCCCGG 0.413000 HNSCC(70;0.22) 26 57 0 0 1 0 0 DUSP26 78986 broad.mit.edu 37 8 33449548 33449548 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:33449548G>T ENST00000256261.4 - 4 1136 c.619C>A c.(619-621)Cag>Aag p.Q207K DUSP26_ENST00000523956.1_Missense_Mutation_p.Q207K NM_024025.1 NP_076930.1 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 (putative) 207 Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) TCCAGACCCTGCCGCAGCCTG 0.657000 6 32 2.0095e-06 2.31304e-06 1 1 0 ADAM32 203102 broad.mit.edu 37 8 39103643 39103643 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:39103643G>A ENST00000379907.4 + 17 1987 c.1860G>A c.(1858-1860)aaG>aaA p.K620K ADAM32_ENST00000519315.1_Silent_p.K514K|ADAM32_ENST00000437682.2_Silent_p.K521K NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 620 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) GGATAATTAAGGCTTCAGCAC 0.373000 10 65 0 0 1 0 0 ZNF233 353355 broad.mit.edu 37 19 44778629 44778629 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:44778629T>A ENST00000391958.2 + 5 1943 c.1816T>A c.(1816-1818)Tat>Aat p.Y606N ZNF233_ENST00000334152.1_Missense_Mutation_p.Y588N|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 606 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) CTGGAACTCATATCTTCATGT 0.443000 47 100 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13230969 13230969 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:13230969G>T ENST00000378694.1 + 9 1379 c.1304G>T c.(1303-1305)gGa>gTa p.G435V MCM10_ENST00000484800.2_Missense_Mutation_p.G436V|MCM10_ENST00000378714.3_Missense_Mutation_p.G435V Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 436 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 ACCTTCTCTGGAGGACGAATT 0.532000 24 63 1.64293e-13 2.28946e-13 1 1 0 GPR83 10888 broad.mit.edu 37 11 94113874 94113874 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:94113874T>A ENST00000243673.2 - 4 884 c.713A>T c.(712-714)tAc>tTc p.Y238F GPR83_ENST00000539203.2_Missense_Mutation_p.Y196F NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 238 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CAAGTCCAGGTACTTCCAGAA 0.577000 11 46 0 0 1 0 0 CAPN15 6650 broad.mit.edu 37 16 601625 601625 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr16:601625G>A ENST00000219611.2 + 9 2669 c.2306G>A c.(2305-2307)aGt>aAt p.S769N LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 CACGGCAGCAGTGAGGGTGTC 0.682000 31 43 0 0 1 0 0 EGLN2 112398 broad.mit.edu 37 19 41307019 41307019 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:41307019A>G ENST00000593726.1 + 1 1570 c.542A>G c.(541-543)tAt>tGt p.Y181C EGLN2_ENST00000303961.4_Missense_Mutation_p.Y181C|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Missense_Mutation_p.Y181C Q96KS0 EGLN2_HUMAN egl-9 family hypoxia-inducible factor 2 181 cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia cytoplasm|nucleus ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Vitamin C(DB00126) GCCCTGGACTATATCGTGCCC 0.672000 41 91 0 0 1 0 0 BANF1 8815 broad.mit.edu 37 11 65770766 65770766 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:65770766G>T ENST00000312175.2 + 2 553 c.45G>T c.(43-45)atG>atT p.M15I BANF1_ENST00000445560.2_Missense_Mutation_p.M15I|BANF1_ENST00000527348.1_Missense_Mutation_p.M15I|BANF1_ENST00000533166.1_Missense_Mutation_p.M15I|BANF1_ENST00000524628.1_Intron NM_001143985.1|NM_003860.3 NP_001137457.1|NP_003851.1 O75531 BAF_HUMAN barrier to autointegration factor 1 15 initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus chromosome|cytosol|nucleoplasm DNA binding large_intestine(2)|prostate(1) 3 CAGAGCCCATGGGGGAGAAGC 0.547000 12 27 2.80697e-09 3.51309e-09 1 1 0 NTNG2 84628 broad.mit.edu 37 9 135042385 135042385 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr9:135042385C>T ENST00000393229.3 + 2 943 c.167C>T c.(166-168)cCc>cTc p.P56L NTNG2_ENST00000360670.3_Missense_Mutation_p.P56L|NTNG2_ENST00000372179.3_Missense_Mutation_p.P56L|NTNG2_ENST00000393228.4_Missense_Mutation_p.P56L NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 56 Laminin N-terminal. axonogenesis anchored to plasma membrane central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) AAGGTGGAGCCCTCAGGCATC 0.582000 29 42 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62845321 62845321 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:62845321C>A ENST00000512091.1 + 17 3389 c.2642C>A c.(2641-2643)aCg>aAg p.T881K LPHN3_ENST00000514591.1_Missense_Mutation_p.T881K|LPHN3_ENST00000514996.1_Missense_Mutation_p.T881K|LPHN3_ENST00000504896.1_Missense_Mutation_p.T881K|LPHN3_ENST00000511324.1_Missense_Mutation_p.T949K|LPHN3_ENST00000509896.1_Missense_Mutation_p.T949K|LPHN3_ENST00000507625.1_Missense_Mutation_p.T949K|LPHN3_ENST00000506720.1_Missense_Mutation_p.T949K|LPHN3_ENST00000514157.1_Missense_Mutation_p.T881K|LPHN3_ENST00000506700.1_Missense_Mutation_p.T881K|LPHN3_ENST00000508946.1_Missense_Mutation_p.T881K|LPHN3_ENST00000545650.1_Missense_Mutation_p.T881K|LPHN3_ENST00000506746.1_Missense_Mutation_p.T949K|LPHN3_ENST00000508693.1_Missense_Mutation_p.T949K|LPHN3_ENST00000507164.1_Missense_Mutation_p.T949K Q9HAR2 LPHN3_HUMAN latrophilin 3 868 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.T881M(3) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GATGTGATCACGTGGGTTGGA 0.448000 74 133 7.62465e-47 1.28934e-46 1 1 0 PTPN13 5783 broad.mit.edu 37 4 87692376 87692376 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:87692376C>G ENST00000436978.1 + 31 5351 c.4871C>G c.(4870-4872)tCt>tGt p.S1624C PTPN13_ENST00000427191.2_Missense_Mutation_p.S1600C|PTPN13_ENST00000411767.2_Missense_Mutation_p.S1619C|PTPN13_ENST00000511467.1_Missense_Mutation_p.S1624C|PTPN13_ENST00000316707.6_Missense_Mutation_p.S1428C NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1619 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) AAAGACTCTTCTCAGCCATCA 0.413000 4 10 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78350072 78350072 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:78350072T>C ENST00000255189.3 - 4 503 c.475A>G c.(475-477)Aca>Gca p.T159A DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 159 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TACTGTTCTGTTGCATGCCAG 0.398000 31 50 0 0 1 0 0 SPANXD 64648 broad.mit.edu 37 X 140785627 140785627 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chrX:140785627T>C ENST00000370515.3 - 2 622 c.289A>G c.(289-291)Aag>Gag p.K97E NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 SPANX family, member D breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) TCTTGCTACTTTGCAGGTATT 0.458000 73 39 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48575090 48575090 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr18:48575090A>G ENST00000342988.3 + 3 822 c.284A>G c.(283-285)tAt>tGt p.Y95C RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.Y95C|SMAD4_ENST00000452201.2_Missense_Mutation_p.Y95C|SMAD4_ENST00000398417.2_Missense_Mutation_p.Y95C NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 95 MH1. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(4)|p.Y95S(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CATGTGATCTATGCCCGTCTC 0.368000 26 16 0 0 1 0 0 PRSS48 345062 broad.mit.edu 37 4 152212286 152212286 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:152212286C>A ENST00000455694.2 + 5 670 c.668C>A c.(667-669)cCt>cAt p.P223H SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.P80H NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 223 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 TCTGGAGGGCCTCTGTCGTGT 0.418000 8 41 0.000157383 0.000170098 1 1 0 DLGAP3 58512 broad.mit.edu 37 1 35365814 35365814 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:35365814G>A ENST00000373347.1 - 4 1436 c.1168C>T c.(1168-1170)Cgc>Tgc p.R390C DLGAP3_ENST00000235180.4_Missense_Mutation_p.R390C O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 390 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) CGCATCCTGCGGCAGGGGATC 0.627000 39 90 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885745 88885745 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:88885745G>T ENST00000319675.3 - 1 551 c.455C>A c.(454-456)aCt>aAt p.T152N NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 152 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 ACAGCTTGGAGTATCTGCAAG 0.552000 32 68 1.13719e-10 1.48824e-10 1 1 0 DMBT1 1755 broad.mit.edu 37 10 124350194 124350194 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:124350194G>T ENST00000338354.3 + 18 2227 c.2121G>T c.(2119-2121)cgG>cgT p.R707R DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Silent_p.R697R|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Silent_p.R697R|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368909.3_Silent_p.R707R Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 707 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCCAGTCCCGGTCGACGCCCA 0.517000 39 261 5.20837e-25 8.31681e-25 1 1 0 CNTN5 53942 broad.mit.edu 37 11 99872827 99872827 + Silent SNP T T G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:99872827T>G ENST00000524871.1 + 9 1229 c.939T>G c.(937-939)gcT>gcG p.A313A CNTN5_ENST00000418526.2_Silent_p.A239A|CNTN5_ENST00000527185.1_Silent_p.A313A|CNTN5_ENST00000279463.3_Silent_p.A313A|CNTN5_ENST00000528682.1_Silent_p.A313A NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 313 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TTACAGCTGCTAAAGGAACAA 0.338000 4 6 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248309335 248309335 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:248309335G>A ENST00000366476.1 + 1 886 c.886G>A c.(886-888)Gag>Aag p.E296K NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CCGCAACAAGGAGGTGACCAG 0.473000 54 53 0 0 1 0 0 SCAPER 49855 broad.mit.edu 37 15 76763649 76763649 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr15:76763649G>A ENST00000538941.2 - 25 3183 c.2244C>T c.(2242-2244)taC>taT p.Y748Y SCAPER_ENST00000563290.1_Silent_p.Y994Y|SCAPER_ENST00000324767.7_Silent_p.Y994Y NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 993 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 AGGTGAGGTTGTAAACATTGA 0.353000 6 19 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104924380 104924380 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:104924380G>C ENST00000507740.1 + 4 1452 c.1216G>C c.(1216-1218)Gga>Cga p.G406R RIMS2_ENST00000262231.10_Missense_Mutation_p.G453R|RIMS2_ENST00000406091.3_Missense_Mutation_p.G598R|RIMS2_ENST00000436393.2_Missense_Mutation_p.G376R NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 676 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TCGAGATTCAGGAGCAATGCT 0.378000 HNSCC(12;0.0054) 24 66 0 0 1 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962511 69962511 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:69962511G>T ENST00000305231.7 + 1 319 c.273G>T c.(271-273)atG>atT p.M91I UGT2B7_ENST00000508661.1_Missense_Mutation_p.M91I|UGT2B7_ENST00000509763.1_Intron NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 91 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ATTTCATCATGCAACAGATTA 0.333000 11 50 0.00829132 0.00860582 1 1 0 DRD5 1816 broad.mit.edu 37 4 9784199 9784199 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:9784199G>T ENST00000304374.2 + 1 942 c.546G>T c.(544-546)agG>agT p.R182S NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 182 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) ACTGGCACAGGGACCAGGCGG 0.617000 18 49 1.33834e-09 1.68552e-09 1 1 0 TRPS1 7227 broad.mit.edu 37 8 116616668 116616668 + Nonsense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:116616668T>A ENST00000395715.3 - 4 2105 c.1528A>T c.(1528-1530)Aag>Tag p.K510* TRPS1_ENST00000520276.1_Nonsense_Mutation_p.K501*|TRPS1_ENST00000220888.5_Nonsense_Mutation_p.K497*|TRPS1_ENST00000519674.1_Nonsense_Mutation_p.K497*|TRPS1_ENST00000519076.1_Intron NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 497 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TTGTCTGTCTTGGTCATTGTC 0.448000 Langer-Giedion syndrome 49 99 0 0 1 0 0 ZNF763 284390 broad.mit.edu 37 19 12089450 12089450 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:12089450T>A ENST00000343949.5 + 4 875 c.720T>A c.(718-720)ttT>ttA p.F240L ZNF763_ENST00000590798.1_Missense_Mutation_p.F257L|ZNF763_ENST00000358987.3_Missense_Mutation_p.F237L|ZNF763_ENST00000538752.1_Missense_Mutation_p.F257L|ZNF763_ENST00000545530.1_Missense_Mutation_p.F115L NM_001012753.1 NP_001012771.1 zinc finger protein 763 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9) 15 TTAAATCCTTTAGTTATTCTG 0.378000 27 31 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40080634 40080634 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr20:40080634C>T ENST00000373233.3 - 22 3532 c.3355G>A c.(3355-3357)Ggc>Agc p.G1119S CHD6_ENST00000309279.7_Missense_Mutation_p.G602S NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1119 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TTGAATCGGCCATGAGTCAGG 0.552000 18 37 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45353208 45353208 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:45353208C>A ENST00000303230.4 - 5 1428 c.1371G>T c.(1369-1371)ctG>ctT p.L457L NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 457 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.L457L(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TTACCTCTCTCAGAGGATCAT 0.343000 11 89 4.68919e-08 5.62329e-08 1 1 0 RND1 27289 broad.mit.edu 37 12 49255801 49255801 + Silent SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:49255801T>A ENST00000309739.5 - 3 439 c.309A>T c.(307-309)gcA>gcT p.A103A NM_014470.3 NP_055285.1 Q92730 RND1_HUMAN Rho family GTPase 1 103 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1) 10 CCTTCTTGAGTGCGCTGTCCA 0.468000 20 31 0 0 1 0 0 CRX 1406 broad.mit.edu 37 19 48339650 48339650 + Splice_Site SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:48339650A>T ENST00000221996.7 + 3 457 c.252_splice c.e3+1 p.Q84_splice TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Splice_Site_p.Q84_splice NM_000554.4 NP_000545.1 O43186 CRX_HUMAN cone-rod homeobox 84 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) TCCAGGGTTCAGGTGGGGTGG 0.597000 19 33 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27537122 27537122 + RNA SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:27537122C>T ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA CCATTGCTGTCTGAGGCTGCC 0.473000 37 92 0 0 1 0 0 ZKSCAN8 7745 broad.mit.edu 37 6 28116464 28116464 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr6:28116464G>T ENST00000330236.6 + 2 463 c.279G>T c.(277-279)ctG>ctT p.L93L ZKSCAN8_ENST00000457389.2_Silent_p.L93L NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2 NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2 zinc finger with KRAB and SCAN domains 8 TCCTGGAGCTGCTGGTGCTGG 0.542000 28 35 2.79863e-10 3.63098e-10 1 1 0 TOP2B 7155 broad.mit.edu 37 3 25640955 25640955 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:25640955C>A ENST00000435706.2 - 35 4867 c.4666G>T c.(4666-4668)Ggc>Tgc p.G1556C TOP2B_ENST00000264331.4_Missense_Mutation_p.G1561C|TOP2B_ENST00000542520.1_Missense_Mutation_p.G413C|TOP2B_ENST00000540199.1_Missense_Mutation_p.G413C Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 1561 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 GTTTTCCTGCCAGGGTTATAA 0.393000 8 18 0.00621372 0.00646055 1 1 0 PASD1 139135 broad.mit.edu 37 X 150832662 150832662 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chrX:150832662G>A ENST00000370357.4 + 11 1158 c.913G>A c.(913-915)Gag>Aag p.E305K NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 305 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) AGTGGACCTGGAGTTCTCGGT 0.577000 42 18 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77406722 77406722 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr15:77406722C>G ENST00000560626.2 - 7 5492 c.5017G>C c.(5017-5019)Gat>Cat p.D1673H PEAK1_ENST00000312493.4_Missense_Mutation_p.D1673H Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1673 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding TGGAAGAGATCTTCGCGGGGG 0.562000 32 57 0 0 1 0 0 UPK1B 7348 broad.mit.edu 37 3 118905627 118905627 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:118905627C>A ENST00000264234.3 + 2 188 c.39C>A c.(37-39)ggC>ggA p.G13G RP11-484M3.5_ENST00000490594.1_Intron|UPK1B_ENST00000460625.1_Silent_p.G13G|UPK1B_ENST00000497685.1_Intron NM_006952.3 NP_008883.2 O75841 UPK1B_HUMAN uroplakin 1B 13 epithelial cell differentiation integral to membrane structural molecule activity breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 14 GBM - Glioblastoma multiforme(114;0.222) GCTTCCAGGGCCTGCTGATTT 0.383000 26 49 4.7796e-09 5.94488e-09 1 1 0 ZNF516 9658 broad.mit.edu 37 18 74091117 74091117 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr18:74091117G>A ENST00000443185.2 - 4 3270 c.2953C>T c.(2953-2955)Cca>Tca p.P985S ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 985 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GCAGGAGGTGGACCCTGAGGC 0.657000 7 20 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138978706 138978706 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:138978706C>T ENST00000288561.8 + 17 3973 c.3724C>T c.(3724-3726)Cac>Tac p.H1242Y UBN2_ENST00000473989.2_Missense_Mutation_p.H1325Y NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 1325 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 TCTGCCTGCACACTTACAGCA 0.433000 27 38 0 0 1 0 0 UPK3A 7380 broad.mit.edu 37 22 45689186 45689186 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr22:45689186C>A ENST00000216211.4 + 5 728 c.696C>A c.(694-696)ctC>ctA p.L232L UPK3A_ENST00000396082.2_Silent_p.L111L NM_006953.3 NP_008884.1 O75631 UPK3A_HUMAN uroplakin 3A 232 epithelial cell differentiation endoplasmic reticulum membrane|integral to membrane kidney(1)|large_intestine(1)|lung(2)|skin(1) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CCATTGCCCTCAGCCTCGTGT 0.627000 7 49 0.00448238 0.00470103 1 1 0 PRDM9 56979 broad.mit.edu 37 5 23524578 23524578 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:23524578C>A ENST00000296682.3 + 10 1268 c.1086C>A c.(1084-1086)ggC>ggA p.G362G NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 362 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 ATGAATACGGCCAGGAACTGG 0.512000 HNSCC(3;0.000094) 33 61 2.42023e-17 3.62433e-17 1 1 0 CYP26A1 1592 broad.mit.edu 37 10 94834545 94834545 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:94834545C>A ENST00000371531.1 + 3 595 c.217C>A c.(217-219)Cgg>Agg p.R73R CYP26A1_ENST00000394139.1_Silent_p.R73R|CYP26A1_ENST00000224356.4_Silent_p.R142R NM_057157.2 NP_476498.1 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, polypeptide 1 142 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Colorectal(252;0.122) GGTGATTATGCGGGCCTTCAG 0.657000 7 19 8.12818e-05 8.88052e-05 1 1 0 PCDHA1 56147 broad.mit.edu 37 5 140166533 140166533 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:140166533C>G ENST00000504120.2 + 1 658 c.658C>G c.(658-660)Ccg>Gcg p.P220A PCDHA1_ENST00000378133.3_Missense_Mutation_p.P220A|PCDHA1_ENST00000394633.3_Missense_Mutation_p.P220A NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGGGCAAACCGGAGCTGCA 0.453000 34 64 0 0 1 0 0 CTAGE1 64693 broad.mit.edu 37 18 19996076 19996076 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr18:19996076G>A ENST00000391403.2 - 1 1802 c.1699C>T c.(1699-1701)Ccg>Tcg p.P567S NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 567 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) TGTTCCCACGGAGGTGCCAGG 0.488000 165 50 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237942060 237942060 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:237942060A>T ENST00000366574.2 + 88 12187 c.11870A>T c.(11869-11871)aAg>aTg p.K3957M RYR2_ENST00000360064.6_Missense_Mutation_p.K3963M|RYR2_ENST00000542537.1_Missense_Mutation_p.K3941M NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3957 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATGCAGATGAAGCTGTCGCAG 0.448000 17 31 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115963186 115963186 + Missense_Mutation SNP G G T rs138005760 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:115963186G>T ENST00000251864.2 + 8 994 c.841G>T c.(841-843)Gtg>Ttg p.V281L TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369280.1_Missense_Mutation_p.V281L|TDRD1_ENST00000369282.1_Missense_Mutation_p.V281L|TDRD1_ENST00000369281.2_Missense_Mutation_p.V281L NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 281 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GGACTTCTACGTGCAGTTATA 0.348000 12 55 0.00010058 0.000109294 1 1 0 ZNF648 127665 broad.mit.edu 37 1 182026493 182026493 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:182026493C>A ENST00000339948.3 - 2 860 c.653G>T c.(652-654)aGc>aTc p.S218I NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 GGCAGCCAGGCTGGCTGGGGT 0.667000 12 13 5.16669e-11 6.80601e-11 1 1 0 DEFA5 1670 broad.mit.edu 37 8 6914088 6914088 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:6914088G>T ENST00000330590.2 - 1 168 c.132C>A c.(130-132)atC>atA p.I44I NM_021010.1 NP_066290.1 Q01523 DEF5_HUMAN defensin, alpha 5, Paneth cell-specific 44 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space NS(1)|lung(4)|skin(1)|stomach(1) 7 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CTGCAAAGGAGATAGCAAGGT 0.498000 27 104 2.79863e-10 3.63098e-10 1 1 0 OR2A2 442361 broad.mit.edu 37 7 143807143 143807143 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:143807143G>T ENST00000408979.2 + 1 537 c.468G>T c.(466-468)ctG>ctT p.L156L NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) CCCTGTCCCTGGTACATGAAA 0.542000 41 41 3.38236e-24 5.38672e-24 1 1 0 OR2L8 391190 broad.mit.edu 37 1 248113083 248113083 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:248113083C>T ENST00000357191.3 + 1 924 c.924C>T c.(922-924)tgC>tgT p.C308C OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) AGAGAATCTGCTCTGTGAAAA 0.448000 7 73 0 0 1 0 0 SLFN12L 100506736 broad.mit.edu 37 17 33806361 33806361 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr17:33806361G>T ENST00000260908.7 - 2 985 c.868C>A c.(868-870)Cct>Act p.P290T SLFN12L_ENST00000449046.1_Missense_Mutation_p.P321T|SLFN12L_ENST00000361112.4_Missense_Mutation_p.P319T NM_001195790.1 NP_001182719.1 Q6IEE8 SN12L_HUMAN schlafen family member 12-like 322 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 TGATGCACAGGCAGTTTCCCA 0.363000 9 5 1.12685e-05 1.27034e-05 1 1 0 BTD 686 broad.mit.edu 37 3 15686094 15686094 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:15686094C>T ENST00000383778.4 + 4 1029 c.671C>T c.(670-672)aCa>aTa p.T224I BTD_ENST00000303498.5_Missense_Mutation_p.T244I|BTD_ENST00000449107.1_Missense_Mutation_p.T246I|BTD_ENST00000437172.1_Missense_Mutation_p.T246I P43251 BTD_HUMAN biotinidase 244 CN hydrolase. central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 18 GGCATCTTCACATGCTTTGAT 0.468000 45 71 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225729344 225729344 + Nonsense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:225729344T>A ENST00000409592.3 - 13 1623 c.1510A>T c.(1510-1512)Aaa>Taa p.K504* DOCK10_ENST00000258390.7_Nonsense_Mutation_p.K510* Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 510 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TTTTCGATTTTGGCCACCAAA 0.363000 19 34 0 0 1 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100492147 100492147 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:100492147C>A ENST00000279907.7 - 5 723 c.511G>T c.(511-513)Gat>Tat p.D171Y UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.D171Y NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 171 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 CTCTGTGGATCCTGAATACGA 0.348000 32 64 1.61788e-16 2.37552e-16 1 1 0 C3AR1 719 broad.mit.edu 37 12 8211766 8211766 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:8211766G>C ENST00000307637.4 - 2 1219 c.1016C>G c.(1015-1017)aCt>aGt p.T339S NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 339 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) CACTAGCCTAGTGATCGTTAT 0.488000 5 144 0 0 1 0 0 HRG 3273 broad.mit.edu 37 3 186389478 186389478 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:186389478G>A ENST00000232003.4 + 4 538 c.458G>A c.(457-459)cGc>cAc p.R153H NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 153 Cystatin 2. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) GATACTGAGCGCTACAGAAAA 0.453000 33 30 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116616666 116616666 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:116616666C>A ENST00000395715.3 - 4 2107 c.1530G>T c.(1528-1530)aaG>aaT p.K510N TRPS1_ENST00000520276.1_Missense_Mutation_p.K501N|TRPS1_ENST00000220888.5_Missense_Mutation_p.K497N|TRPS1_ENST00000519674.1_Missense_Mutation_p.K497N|TRPS1_ENST00000519076.1_Intron NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 497 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TCTTGTCTGTCTTGGTCATTG 0.453000 Langer-Giedion syndrome 49 97 6.18754e-15 8.86881e-15 1 1 0 ABL1 25 broad.mit.edu 37 9 133760658 133760658 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr9:133760658G>T ENST00000318560.5 + 11 3362 c.2981G>T c.(2980-2982)gGg>gTg p.G994V NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 994 F-actin-binding.|Pro-rich. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GCCCTGGCAGGGGACCAGCCG 0.667000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 18 75 1.99824e-07 2.33128e-07 1 1 0 OR51D1 390038 broad.mit.edu 37 11 4661210 4661210 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:4661210G>A ENST00000357605.2 + 1 266 c.190G>A c.(190-192)Gtg>Atg p.V64M NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CATCATTCGTGTGGAGAGGCG 0.532000 22 83 0 0 1 0 0 AGFG2 3268 broad.mit.edu 37 7 100151103 100151103 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:100151103G>T ENST00000300176.4 + 4 687 c.565G>T c.(565-567)Gct>Tct p.A189S AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 189 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TCTCTCAGTTGCTGCCTCCAC 0.547000 23 60 1.10513e-12 1.50859e-12 1 1 0 XPO1 7514 broad.mit.edu 37 2 61721088 61721088 + Nonsense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:61721088C>A ENST00000401558.2 - 12 1913 c.1186G>T c.(1186-1188)Gga>Tga p.G396* XPO1_ENST00000406957.1_Nonsense_Mutation_p.G396*|XPO1_ENST00000404992.2_Nonsense_Mutation_p.G396* NM_003400.3 NP_003391.1 O14980 XPO1_HUMAN exportin 1 (CRM1 homolog, yeast) 396 Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export. intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) TGTTGACTTCCAGAAAGCAAC 0.408000 Mis CLL 64 117 1.72039e-30 2.79158e-30 1 1 0 CARD18 59082 broad.mit.edu 37 11 105009794 105009794 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:105009794G>A ENST00000530950.1 - 2 18 c.19C>T c.(19-21)Cgt>Tgt p.R7C CARD18_ENST00000526823.1_5'UTR|CARD18_ENST00000532895.1_5'UTR NM_021571.3 NP_067546.1 P57730 CAR18_HUMAN caspase recruitment domain family, member 18 7 CARD. inflammatory response|regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity central_nervous_system(1)|ovary(1) 2 CTCTTTTTACGCAAGAGTTGG 0.373000 16 54 0 0 1 0 0 PER2 8864 broad.mit.edu 37 2 239185819 239185819 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:239185819G>T ENST00000254657.3 - 3 525 c.246C>A c.(244-246)agC>agA p.S82R PER2_ENST00000440245.1_Missense_Mutation_p.S82R|PER2_ENST00000254658.3_Missense_Mutation_p.S82R|PER2_ENST00000355768.2_Missense_Mutation_p.S82R NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 82 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CCATCATCAGGCTAAAGGTAT 0.383000 79 172 2.51111e-31 4.09671e-31 1 1 0 LRRC57 255252 broad.mit.edu 37 15 42839596 42839596 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr15:42839596G>C ENST00000323443.2 - 3 722 c.355C>G c.(355-357)Caa>Gaa p.Q119E LRRC57_ENST00000563454.1_Missense_Mutation_p.Q119E|LRRC57_ENST00000397130.3_Missense_Mutation_p.Q119E Q8N9N7 LRC57_HUMAN leucine rich repeat containing 57 119 breast(1)|kidney(1)|lung(5)|prostate(1) 8 all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262) GBM - Glioblastoma multiforme(94;6.87e-07) GCTCCCAGTTGGTTCCCAGAG 0.502000 24 29 0 0 1 0 0 DAZAP1 26528 broad.mit.edu 37 19 1430307 1430307 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:1430307G>A ENST00000336761.6 + 10 1022 c.817G>A c.(817-819)Ggc>Agc p.G273S DAZAP1_ENST00000233078.4_Missense_Mutation_p.G273S NM_170711.1 NP_733829.1 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 273 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCTCCTGGAGGCTTTCCCCC 0.672000 11 5 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45566354 45566354 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr18:45566354C>A ENST00000588982.1 - 3 1626 c.1125G>T c.(1123-1125)ggG>ggT p.G375G ZBTB7C_ENST00000590800.1_Silent_p.G375G|ZBTB7C_ENST00000332053.2_Silent_p.G375G|ZBTB7C_ENST00000586438.1_Silent_p.G375G|ZBTB7C_ENST00000535628.2_Silent_p.G375G A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 375 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GCTTCCCGGCCCCCATGATGA 0.637000 31 38 4.3181e-19 6.54785e-19 1 1 0 TAAR9 134860 broad.mit.edu 37 6 132859982 132859982 + RNA SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr6:132859982C>A ENST00000434551.1 + 0 554 NM_175057.3 NP_778227.3 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 (gene/pseudogene) plasma membrane G-protein coupled receptor activity Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) GTTGCTCTAACCTGTGTAGGA 0.418000 75 45 1.7488e-33 2.8686e-33 1 1 0 FBXO32 114907 broad.mit.edu 37 8 124546959 124546959 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:124546959C>T ENST00000517956.1 - 2 403 c.212G>A c.(211-213)aGc>aAc p.S71N FBXO32_ENST00000443022.2_Missense_Mutation_p.S71N NM_058229.3|NM_148177.2 NP_478136.1|NP_680482.1 Q969P5 FBX32_HUMAN F-box protein 32 71 p.S71T(1) autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1) 21 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TTTGGTTTTGCTATTCAGCAT 0.358000 15 57 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814834 106814834 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:106814834C>A ENST00000407775.2 + 8 2774 c.2524C>A c.(2524-2526)Cgg>Agg p.R842R RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.R573R|ZFPM2_ENST00000517361.1_Silent_p.R710R|ZFPM2_ENST00000520492.1_Silent_p.R710R|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 842 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TCAGTCTGAGCGGACGACCAC 0.463000 7 16 1 1 1 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144892528 144892528 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:144892528C>T ENST00000369359.4 - 25 3326 c.3288G>A c.(3286-3288)gaG>gaA p.E1096E PDE4DIP_ENST00000369351.3_Silent_p.E959E|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369349.3_Silent_p.E959E|PDE4DIP_ENST00000530740.1_Silent_p.E1096E|PDE4DIP_ENST00000313431.9_Silent_p.E1122E|PDE4DIP_ENST00000369354.3_Silent_p.E959E|PDE4DIP_ENST00000313382.9_Silent_p.E1025E|PDE4DIP_ENST00000369356.4_Silent_p.E959E Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 959 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTGCAGCCTCCTCCTCAATAC 0.517000 T PDGFRB MPD 22 133 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21467011 21467011 + Silent SNP G G A rs143903868 byFrequency TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:21467011G>A ENST00000281523.2 - 6 1343 c.825C>T c.(823-825)caC>caT p.H275H NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 275 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 CCGAGTTGACGTGCACATCAC 0.433000 16 67 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168114087 168114087 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:168114087A>G ENST00000519560.1 - 30 3630 c.3211T>C c.(3211-3213)Tgt>Cgt p.C1071R SLIT3_ENST00000404867.3_Missense_Mutation_p.C1071R|SLIT3_ENST00000332966.8_Missense_Mutation_p.C1078R NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1071 EGF-like 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTGTCTCACAGAGCTTCCCG 0.597000 9 27 0 0 1 0 0 GPNMB 10457 broad.mit.edu 37 7 23309710 23309710 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:23309710T>C ENST00000258733.4 + 9 1640 c.1345T>C c.(1345-1347)Tct>Cct p.S449P GPNMB_ENST00000381990.2_Missense_Mutation_p.S461P|GPNMB_ENST00000453162.2_Missense_Mutation_p.S403P|GPNMB_ENST00000539136.1_Missense_Mutation_p.S350P Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 461 negative regulation of cell proliferation melanosome breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) CTTCAATGGGTCTGGGACGTA 0.527000 4 82 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28360587 28360587 + Silent SNP C C T rs142882696 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr15:28360587C>T ENST00000261609.7 - 89 13818 c.13710G>A c.(13708-13710)gcG>gcA p.A4570A NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4570 HECT. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CACTGAGGTCCGCGATGGTGA 0.627000 4 20 0 0 1 0 0 SVOP 55530 broad.mit.edu 37 12 109306360 109306360 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:109306360C>T ENST00000299134.5 - 14 1401 c.1402G>A c.(1402-1404)Gaa>Aaa p.E468K NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 ACCGTGCATTCCTCGGCCGAC 0.622000 100 139 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197112909 197112909 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:197112909T>C ENST00000367409.4 - 3 729 c.473A>G c.(472-474)aAa>aGa p.K158R ASPM_ENST00000294732.7_Missense_Mutation_p.K158R NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 158 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GGCTGAAATTTTCTTCTTTTT 0.308000 7 66 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54305211 54305211 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr15:54305211G>T ENST00000545554.1 + 1 111 c.111G>T c.(109-111)caG>caT p.Q37H UNC13C_ENST00000537900.1_Missense_Mutation_p.Q37H|UNC13C_ENST00000260323.11_Missense_Mutation_p.Q37H Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 37 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGTATCGTCAGCAGAAAAAGG 0.348000 13 61 7.03913e-09 8.73723e-09 1 1 0 TBKBP1 9755 broad.mit.edu 37 17 45774121 45774121 + Silent SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr17:45774121G>C ENST00000361722.3 + 2 1119 c.270G>C c.(268-270)ctG>ctC p.L90L NM_014726.2 NP_055541.1 A7MCY6 TBKB1_HUMAN TBK1 binding protein 1 90 innate immune response endometrium(5)|kidney(1)|lung(1) 7 GCTTTTCTCTGTATGAAATCA 0.592000 19 14 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12856094 12856094 + Silent SNP T T G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:12856094T>G ENST00000332296.7 + 4 1477 c.1374T>G c.(1372-1374)ccT>ccG p.P458P PRAMEF1_ENST00000400814.3_Silent_p.P213P NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 458 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCCCCTGCCCTTCCTGTGGCT 0.562000 6 137 0 0 1 0 0 POGZ 23126 broad.mit.edu 37 1 151378855 151378855 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:151378855T>C ENST00000271715.2 - 19 2970 c.2656A>G c.(2656-2658)Act>Gct p.T886A POGZ_ENST00000392723.1_Missense_Mutation_p.T833A|POGZ_ENST00000409503.1_Missense_Mutation_p.T877A|POGZ_ENST00000361398.3_Missense_Mutation_p.T833A|POGZ_ENST00000368863.2_Missense_Mutation_p.T791A|POGZ_ENST00000540984.1_Missense_Mutation_p.T248A|POGZ_ENST00000531094.1_Missense_Mutation_p.T824A|POGZ_ENST00000491586.1_Missense_Mutation_p.T842A NM_001194937.1|NM_015100.3 NP_001181866.1|NP_055915.2 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 886 Pro-rich. cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GATTTCACAGTGGCAGCTTTG 0.577000 26 67 0 0 1 0 0 CDCA7L 55536 broad.mit.edu 37 7 21947876 21947876 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:21947876C>T ENST00000406877.3 - 4 832 c.553G>A c.(553-555)Gac>Aac p.D185N CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.D139N|CDCA7L_ENST00000356195.5_Missense_Mutation_p.D151N NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 185 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 TGTCTACAGTCTTTCTTTCTT 0.433000 19 41 0 0 1 0 0 KTN1 3895 broad.mit.edu 37 14 56101365 56101365 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr14:56101365A>T ENST00000416613.1 + 8 1522 c.1450A>T c.(1450-1452)Act>Tct p.T484S KTN1_ENST00000395309.3_Missense_Mutation_p.T484S|KTN1_ENST00000395311.1_Missense_Mutation_p.T484S|KTN1_ENST00000395308.1_Missense_Mutation_p.T484S|KTN1_ENST00000438792.2_Missense_Mutation_p.T484S|KTN1_ENST00000395314.3_Missense_Mutation_p.T484S|KTN1_ENST00000413890.2_Missense_Mutation_p.T484S Q86UP2 KTN1_HUMAN kinectin 1 (kinesin receptor) 484 microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 GCAAGCAGCTACTCAGTTGAA 0.408000 T RET papillary thryoid 20 13 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138442438 138442438 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:138442438C>G ENST00000344876.4 - 4 3539 c.3153G>C c.(3151-3153)caG>caC p.Q1051H PCDH18_ENST00000412923.2_Missense_Mutation_p.Q1050H|PCDH18_ENST00000511115.1_Missense_Mutation_p.Q231H|PCDH18_ENST00000507846.1_Missense_Mutation_p.Q830H|PCDH18_ENST00000510305.1_Missense_Mutation_p.Q262H NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 1051 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CCGCTACCCCCTGTGGGTAAC 0.562000 11 40 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363758 22363758 + Missense_Mutation SNP T T G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:22363758T>G ENST00000397121.2 - 3 1078 c.761A>C c.(760-762)aAa>aCa p.K254T NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 254 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTCTTCACATTTGTAGGGTTT 0.388000 8 108 0 0 1 0 0 GLS 2744 broad.mit.edu 37 2 191827619 191827619 + Silent SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:191827619C>G ENST00000320717.3 + 18 2175 c.1917C>G c.(1915-1917)ctC>ctG p.L639L GLS_ENST00000409428.1_Silent_p.L144L NM_014905.4 NP_055720.3 O94925 GLSK_HUMAN glutaminase 639 cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TTAAAATTCTCCAAGAATACC 0.428000 23 45 0 0 1 0 0 HOXB2 3212 broad.mit.edu 37 17 46621003 46621003 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr17:46621003C>G ENST00000330070.4 - 2 1665 c.498G>C c.(496-498)aaG>aaC p.K166N HOXB-AS1_ENST00000504972.3_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 166 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 GGCACAGGTACTTATTAAAGT 0.622000 13 39 0 0 1 0 0 OR6B2 389090 broad.mit.edu 37 2 240969641 240969641 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:240969641A>T ENST00000402971.2 - 1 265 c.206T>A c.(205-207)cTg>cAg p.L69Q NM_001005853.1 NP_001005853.1 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, member 2 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) CCAGATCTCCAGGAAAGACAT 0.557000 37 79 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161022062 161022062 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr6:161022062G>T ENST00000447678.1 - 20 3134 c.3014C>A c.(3013-3015)cCc>cAc p.P1005H LPA_ENST00000316300.5_Missense_Mutation_p.P1005H NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3513 Kringle 9. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CCTGACACTGGGATCTGTTGT 0.488000 39 38 3.93418e-24 6.23257e-24 1 1 0 ZNF626 199777 broad.mit.edu 37 19 20807917 20807917 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:20807917G>T ENST00000601440.1 - 4 912 c.766C>A c.(766-768)Ccc>Acc p.P256T CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 CACTTGTAGGGTTTCTCTCCA 0.388000 11 61 0.000673444 0.000716278 1 1 0 FAM173B 134145 broad.mit.edu 37 5 10227733 10227733 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:10227733T>A ENST00000280330.8 - 6 636 c.30A>T c.(28-30)gaA>gaT p.E10D FAM173B_ENST00000511437.1_Missense_Mutation_p.E174D|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.E157D Q6P4H8 F173B_HUMAN family with sequence similarity 173, member B 174 integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 16 CAAGTTCACGTTCAAGTTTCT 0.468000 23 33 0 0 1 0 0 TNPO2 30000 broad.mit.edu 37 19 12813732 12813732 + Splice_Site SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:12813732C>A ENST00000425528.1 - 21 2567 c.2209_splice c.e21-1 p.G737_splice TNPO2_ENST00000588216.1_Splice_Site_p.G737_splice|TNPO2_ENST00000450764.2_Splice_Site_p.G737_splice|TNPO2_ENST00000592287.1_Splice_Site_p.G737_splice|TNPO2_ENST00000356861.5_Splice_Site_p.G737_splice|TNPO2_ENST00000441499.1_Splice_Site_p.G737_splice O14787 TNPO2_HUMAN transportin 2 737 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CATCTCTGCCCCTGGGGGAGC 0.612000 46 45 5.2432e-18 7.9108e-18 1 1 0 XPO1 7514 broad.mit.edu 37 2 61721087 61721087 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:61721087C>A ENST00000401558.2 - 12 1914 c.1187G>T c.(1186-1188)gGa>gTa p.G396V XPO1_ENST00000406957.1_Missense_Mutation_p.G396V|XPO1_ENST00000404992.2_Missense_Mutation_p.G396V NM_003400.3 NP_003391.1 O14980 XPO1_HUMAN exportin 1 (CRM1 homolog, yeast) 396 Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export. intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) ATGTTGACTTCCAGAAAGCAA 0.413000 Mis CLL 62 119 5.82218e-30 9.42191e-30 1 1 0 PCDHA6 56142 broad.mit.edu 37 5 140209794 140209794 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:140209794G>A ENST00000529310.1 + 1 2232 c.2118G>A c.(2116-2118)gcG>gcA p.A706A PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATCTGCGCGGTATCCAGCC 0.697000 9 78 0 0 1 0 0 KLHL22 84861 broad.mit.edu 37 22 20819798 20819798 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr22:20819798G>A ENST00000328879.4 - 4 615 c.459C>T c.(457-459)ctC>ctT p.L153L KLHL22_ENST00000440659.2_Silent_p.L10L NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 153 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GGTAGACATCGAGAATGTTCT 0.498000 36 60 0 0 1 0 0 MMP8 4317 broad.mit.edu 37 11 102593161 102593161 + Splice_Site SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:102593161T>A ENST00000236826.3 - 2 444 c.347_splice c.e2+1 p.R116_splice NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) 116 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) AGATATCACCTGTAGGTCAAG 0.458000 13 37 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125081669 125081669 + Nonsense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:125081669A>T ENST00000522917.1 + 29 3993 c.3787A>T c.(3787-3789)Aag>Tag p.K1263* FER1L6_ENST00000399018.1_Nonsense_Mutation_p.K1263*|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1263 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CAAAATGCTCAAGAAGAAACC 0.468000 9 56 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346862 48346862 + Missense_Mutation SNP G G A rs149944761 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:48346862G>A ENST00000319856.4 + 1 391 c.370G>A c.(370-372)Gct>Act p.A124T NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 GTGCTGCATGGCTCAGCTCTT 0.453000 48 284 0 0 1 0 0 GRP 2922 broad.mit.edu 37 18 56892962 56892962 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr18:56892962C>A ENST00000256857.2 + 2 476 c.378C>A c.(376-378)ggC>ggA p.G126G GRP_ENST00000529320.2_Intron|GRP_ENST00000420468.2_Silent_p.G126G NM_001012512.1|NM_002091.3 NP_001012530.1|NP_002082.2 P07492 GRP_HUMAN gastrin-releasing peptide 126 neuropeptide signaling pathway extracellular space neuropeptide hormone activity large_intestine(1)|lung(3) 4 Colorectal(73;0.0946) GTTCAAAAGGCAAAGGTAAAA 0.478000 86 63 1.51188e-25 2.42061e-25 1 1 0 DPP6 1804 broad.mit.edu 37 7 154564564 154564564 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:154564564G>A ENST00000404039.1 + 10 1443 c.856G>A c.(856-858)Gag>Aag p.E286K DPP6_ENST00000377770.3_Missense_Mutation_p.E350K|DPP6_ENST00000332007.3_Missense_Mutation_p.E288K|DPP6_ENST00000427557.1_Missense_Mutation_p.E243K NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 350 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GGCTGGAAGTGAGAACCCCAG 0.498000 8 12 0 0 1 0 0 MURC 347273 broad.mit.edu 37 9 103340802 103340802 + Missense_Mutation SNP A A C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr9:103340802A>C ENST00000307584.5 + 1 442 c.377A>C c.(376-378)aAg>aCg p.K126T NM_001018116.1 NP_001018126.1 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 126 cell differentiation|muscle organ development|transcription, DNA-dependent endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1) 16 Acute lymphoblastic leukemia(62;0.0461) GAAATAATGAAGAAAAACAAA 0.373000 26 27 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121890960 121890960 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:121890960C>A ENST00000377069.4 - 13 2235 c.1829G>T c.(1828-1830)cGc>cTc p.R610L KDM2B_ENST00000377071.4_Missense_Mutation_p.R641L|KDM2B_ENST00000542973.1_Missense_Mutation_p.R9L|KDM2B_ENST00000536437.1_Missense_Mutation_p.R524L NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 641 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CTGCTTCATGCGCCCGGGGCC 0.706000 6 11 0.0293803 0.029726 1 1 0 CDK15 65061 broad.mit.edu 37 2 202700438 202700438 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:202700438C>A ENST00000450471.2 + 8 889 c.803C>A c.(802-804)cCt>cAt p.P268H CDK15_ENST00000260967.2_Missense_Mutation_p.P217H|CDK15_ENST00000374598.4_Missense_Mutation_p.P268H|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000410091.3_Missense_Mutation_p.P217H|CDK15_ENST00000434439.1_Missense_Mutation_p.P268H NM_001261435.1 NP_001248364.1 Q96Q40 CDK15_HUMAN cyclin-dependent kinase 15 268 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1) 26 Adenosine triphosphate(DB00171) TACCGGCCCCCTGATGCTTTG 0.522000 12 37 0.000978159 0.00103671 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11540016 11540016 + Nonsense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr17:11540016C>A ENST00000262442.3 + 9 1769 c.1701C>A c.(1699-1701)taC>taA p.Y567* DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Y567* NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 567 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTGATAAATACCTGGTCCTCA 0.458000 37 26 3.93418e-24 6.23257e-24 1 1 0 INPP5D 3635 broad.mit.edu 37 2 234106868 234106868 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:234106868G>T ENST00000359570.5 + 27 2785 c.2785G>T c.(2785-2787)Gcc>Tcc p.A929S INPP5D_ENST00000450745.1_Missense_Mutation_p.A693S|INPP5D_ENST00000455936.2_Missense_Mutation_p.A693S Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 941 Pro-rich. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GCAGCCCACAGCCTGGAGCTA 0.637000 7 42 0.000274275 0.000293796 1 1 0 OR4A16 81327 broad.mit.edu 37 11 55110891 55110891 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:55110891C>A ENST00000314721.2 + 1 265 c.215C>A c.(214-216)tCc>tAc p.S72Y NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S72Y(1) NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 GCCATATATTCCACTGCCATG 0.443000 66 161 1.55545e-33 2.55841e-33 1 1 0 ABAT 18 broad.mit.edu 37 16 8868885 8868885 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr16:8868885T>C ENST00000396600.2 + 13 2031 c.1093T>C c.(1093-1095)Ttc>Ctc p.F365L ABAT_ENST00000425191.2_Missense_Mutation_p.F365L|ABAT_ENST00000569156.1_Missense_Mutation_p.F365L|ABAT_ENST00000567812.1_Missense_Mutation_p.F380L|ABAT_ENST00000268251.8_Missense_Mutation_p.F365L NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 365 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) TGGGGGCTTCTTCCACAAGGA 0.557000 4 67 0 0 1 0 0 TNFSF10 8743 broad.mit.edu 37 3 172232725 172232725 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:172232725C>T ENST00000241261.2 - 2 318 c.196G>A c.(196-198)Gac>Aac p.D66N TNFSF10_ENST00000420541.2_Missense_Mutation_p.D66N NM_003810.3 NP_003801.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 66 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TCATTGGGGTCCCAATAACTG 0.448000 44 69 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145156268 145156268 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:145156268C>A ENST00000558170.2 - 8 3670 c.2486G>T c.(2485-2487)aGt>aTt p.S829I ZEB2_ENST00000409487.3_Missense_Mutation_p.S829I|ZEB2_ENST00000303660.4_Missense_Mutation_p.S829I|ZEB2_ENST00000539609.3_Missense_Mutation_p.S805I NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 829 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) GGCTATAATACTTTTGGGTTC 0.398000 46 76 1.44828e-35 2.40847e-35 1 1 0 ST18 9705 broad.mit.edu 37 8 53092835 53092835 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:53092835C>A ENST00000276480.7 - 9 807 c.124G>T c.(124-126)Gct>Tct p.A42S NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 42 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGATCTTCAGCTGTTCTCTTC 0.438000 39 96 3.09479e-21 4.80171e-21 1 1 0 OR9Q1 219956 broad.mit.edu 37 11 57947239 57947239 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:57947239G>C ENST00000335397.3 + 3 639 c.323G>C c.(322-324)gGt>gCt p.G108A NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) ACCTTCTTTGGTTCCATCGAC 0.557000 22 87 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560848 44560848 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr18:44560848G>T ENST00000332567.4 - 1 1140 c.788C>A c.(787-789)cCa>cAa p.P263Q KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 263 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGGCATCCTTGGGGTTTCCTC 0.607000 21 43 0.000132079 0.000143264 1 1 0 CLASRP 11129 broad.mit.edu 37 19 45561077 45561077 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:45561077G>A ENST00000544944.2 + 6 1226 c.534G>A c.(532-534)gcG>gcA p.A178A CLASRP_ENST00000391953.4_Silent_p.A116A|CLASRP_ENST00000221455.3_Silent_p.A178A Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 178 mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 TAGAGAAGGCGGCAGAAAAGC 0.612000 30 53 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144874726 144874726 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:144874726C>T ENST00000369359.4 - 33 5328 c.5290G>A c.(5290-5292)Gag>Aag p.E1764K PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1764K|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1628K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1584K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1628K Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1628 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.E1628*(2) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGTGTGTACTCGCTGACTATG 0.527000 T PDGFRB MPD 47 357 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 169708 169708 + Splice_Site SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:169708G>T ENST00000283426.6 + 12 2711 c.e12+1 NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CCTGAGACACGTAAGTGCAGG 0.657000 25 68 5.45024e-15 7.83065e-15 1 1 0 ARAP3 64411 broad.mit.edu 37 5 141046008 141046008 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:141046008C>A ENST00000239440.4 - 17 2620 c.2555G>T c.(2554-2556)cGg>cTg p.R852L ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R754L|ARAP3_ENST00000513878.1_Missense_Mutation_p.R514L NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 852 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CTGTAGCCGCCGCAGATGCAC 0.622000 6 8 3.59834e-05 4.01148e-05 1 1 0 DKK2 27123 broad.mit.edu 37 4 107845814 107845814 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:107845814G>T ENST00000285311.3 - 3 1122 c.417C>A c.(415-417)atC>atA p.I139I DKK2_ENST00000510463.1_Silent_p.I93I|DKK2_ENST00000513208.1_Silent_p.I39I NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 139 multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) CCAGAGCCGGGATGTGAGGGG 0.428000 24 91 2.21704e-12 2.99923e-12 1 1 0 COL5A2 1290 broad.mit.edu 37 2 189936804 189936804 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:189936804G>A ENST00000374866.3 - 18 1394 c.1120C>T c.(1120-1122)Cca>Tca p.P374S NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 374 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GAAGAGCCTGGTATCCCAAGA 0.348000 7 17 0 0 1 0 0 FAM198B 51313 broad.mit.edu 37 4 159091958 159091958 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:159091958G>T ENST00000296530.8 - 2 1191 c.570C>A c.(568-570)gcC>gcA p.A190A FAM198B_ENST00000592057.1_Silent_p.A190A|FAM198B_ENST00000393807.5_Silent_p.A190A|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000585682.1_Silent_p.A190A|FAM198B_ENST00000589306.1_Intron NM_016613.6 NP_057697.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 190 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 CTGGGCCCCCGGCTCGCACTC 0.612000 OREG0016378 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 19 0.00185496 0.00194884 1 1 0 CAD 790 broad.mit.edu 37 2 27465789 27465789 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:27465789A>G ENST00000264705.4 + 42 6590 c.6428A>G c.(6427-6429)tAc>tGc p.Y2143C CAD_ENST00000403525.1_Missense_Mutation_p.Y2080C NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 2143 ATCase (Aspartate transcarbamylase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GATGTGCTCTACATGACTCGA 0.582000 18 25 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34671710 34671710 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:34671710C>A ENST00000374789.3 - 9 1482 c.1157G>T c.(1156-1158)aGc>aTc p.S386I PARD3_ENST00000374776.1_Missense_Mutation_p.S386I|PARD3_ENST00000545260.1_Missense_Mutation_p.S342I|PARD3_ENST00000346874.4_Missense_Mutation_p.S386I|PARD3_ENST00000340077.5_Missense_Mutation_p.S386I|PARD3_ENST00000374790.3_Missense_Mutation_p.S342I|PARD3_ENST00000374794.3_Missense_Mutation_p.S342I|PARD3_ENST00000374773.1_Missense_Mutation_p.S386I|PARD3_ENST00000544292.1_Missense_Mutation_p.S116I|PARD3_ENST00000350537.4_Missense_Mutation_p.S386I|PARD3_ENST00000374788.3_Missense_Mutation_p.S386I|PARD3_ENST00000545693.1_Missense_Mutation_p.S386I NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 386 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) AATATACTGGCTGTCAGGGCT 0.478000 14 72 3.27435e-08 3.95815e-08 1 1 0 TECTA 7007 broad.mit.edu 37 11 120984388 120984388 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:120984388G>T ENST00000392793.1 + 6 1022 c.751G>T c.(751-753)Gga>Tga p.G251* TECTA_ENST00000264037.2_Nonsense_Mutation_p.G251* O75443 TECTA_HUMAN tectorin alpha 251 NIDO. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TAAAGTTGATGGAAAGGAAAT 0.502000 16 36 1.15088e-07 1.35054e-07 1 1 0 ZNF37A 7587 broad.mit.edu 37 10 38407051 38407051 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:38407051G>T ENST00000351773.3 + 8 1802 c.972G>T c.(970-972)gaG>gaT p.E324D ZNF37A_ENST00000361085.4_Missense_Mutation_p.E324D NM_001007094.2 NP_001007095.1 P17032 ZN37A_HUMAN zinc finger protein 37A 324 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 ATACAGGGGAGAGACCTTATG 0.413000 26 57 3.08376e-08 3.74279e-08 1 1 0 C9 735 broad.mit.edu 37 5 39342272 39342272 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:39342272C>A ENST00000263408.4 - 2 199 c.104G>T c.(103-105)aGt>aTt p.S35I C9_ENST00000509186.1_5'UTR NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 35 complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TGCAGAGCCACTGCTTTCTGT 0.428000 32 34 5.60225e-13 7.73522e-13 1 1 0 TAF4B 6875 broad.mit.edu 37 18 23866407 23866407 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr18:23866407G>A ENST00000269142.5 + 7 2532 c.1534G>A c.(1534-1536)Ggc>Agc p.G512S TAF4B_ENST00000578121.1_Missense_Mutation_p.G512S|TAF4B_ENST00000400466.2_Missense_Mutation_p.G512S NM_005640.1 NP_005631.1 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa 512 Required for interaction with P65/RELA. transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1) 29 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) TGCCCAGCCGGGCCCTGTCCT 0.443000 29 227 0 0 1 0 0 RGS5 8490 broad.mit.edu 37 1 163131740 163131740 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:163131740C>A ENST00000313961.5 - 3 459 c.182G>T c.(181-183)tGg>tTg p.W61L RGS5_ENST00000367903.3_Missense_Mutation_p.W81L|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000527988.1_Intron|RGS5_ENST00000534288.1_5'UTR|RGS5_ENST00000530507.1_Missense_Mutation_p.W61L NM_001254749.1|NM_003617.3 NP_001241678.1|NP_003608.1 O15539 RGS5_HUMAN regulator of G-protein signaling 5 61 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 LUSC - Lung squamous cell carcinoma(543;0.187) GGAATCACGCCACTGCAGGGC 0.418000 4 45 0.00909568 0.00937603 1 1 0 CDH2 1000 broad.mit.edu 37 18 25570298 25570298 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr18:25570298G>T ENST00000269141.3 - 10 1784 c.1361C>A c.(1360-1362)aCa>aAa p.T454K CDH2_ENST00000399380.3_Missense_Mutation_p.T423K NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 454 Cadherin 3. T -> A (in dbSNP:rs17857112). adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CATCCTATTTGTTTCAAAGTC 0.408000 71 57 5.61366e-43 9.41343e-43 1 1 0 GNB3 2784 broad.mit.edu 37 12 6953051 6953051 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:6953051C>T ENST00000229264.3 + 9 1013 c.608C>T c.(607-609)gCc>gTc p.A203V GNB3_ENST00000435982.2_Missense_Mutation_p.A202V NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 203 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 ATTTCGGGGGCCTGTGATGCC 0.562000 18 115 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 100994546 100994546 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:100994546T>A ENST00000193391.7 - 6 814 c.627A>T c.(625-627)gaA>gaT p.E209D NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 209 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CTGAGGCACCTTCATAGGCGT 0.428000 20 50 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16672859 16672859 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:16672859G>A ENST00000513610.1 - 37 5702 c.5248C>T c.(5248-5250)Cac>Tac p.H1750Y MYO10_ENST00000505695.1_Missense_Mutation_p.H1089Y|MYO10_ENST00000515803.1_Missense_Mutation_p.H1089Y|MYO10_ENST00000274203.9_Missense_Mutation_p.H1107Y|MYO10_ENST00000427430.2_Missense_Mutation_p.H1107Y NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1750 FERM. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 TTGTCGACGTGGCCGTTGTAT 0.493000 5 47 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3614103 3614103 + RNA SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr16:3614103G>C ENST00000301749.7 - 0 1240 NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CGGTCCACCAGGCCCCCTGGG 0.592000 18 25 0 0 1 0 0 OR13A1 79290 broad.mit.edu 37 10 45799453 45799453 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:45799453G>A ENST00000553795.1 - 4 726 c.418C>T c.(418-420)Cgg>Tgg p.R140W OR13A1_ENST00000374401.2_Missense_Mutation_p.R140W|OR13A1_ENST00000536058.1_Missense_Mutation_p.R140W NM_001004297.2 NP_001004297.2 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, member 1 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 GCTGCGTACCGGTCATAGGCC 0.617000 10 19 0 0 1 0 0 OR11H12 440153 broad.mit.edu 37 14 19378050 19378050 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr14:19378050G>A ENST00000550708.1 + 1 529 c.457G>A c.(457-459)Ggg>Agg p.G153R NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G153W(1) NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TATCATGACTGGGCATCTCTG 0.483000 13 259 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89401853 89401853 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr15:89401853A>T ENST00000439576.2 + 12 6411 c.6037A>T c.(6037-6039)Aat>Tat p.N2013Y ACAN_ENST00000561243.1_Missense_Mutation_p.N2013Y|ACAN_ENST00000352105.7_Missense_Mutation_p.N2013Y|ACAN_ENST00000559004.1_Missense_Mutation_p.N2013Y NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2013 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CAGCACCACCAATGTAAGTGG 0.522000 8 46 0 0 1 0 0 MRS2 57380 broad.mit.edu 37 6 24423246 24423246 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr6:24423246G>T ENST00000378386.3 + 10 1282 c.1189G>T c.(1189-1191)Gga>Tga p.G397* MRS2_ENST00000535061.1_Nonsense_Mutation_p.G347*|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000543597.1_Nonsense_Mutation_p.G106*|MRS2_ENST00000443868.2_Nonsense_Mutation_p.G400*|MRS2_ENST00000378353.1_Nonsense_Mutation_p.G397* NM_020662.2 NP_065713.1 Q9HD23 MRS2_HUMAN MRS2 magnesium transporter 397 ion transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 TTCATTCCTTGGACGACAGCT 0.473000 58 70 3.84483e-29 6.20534e-29 1 1 0 OR8A1 390275 broad.mit.edu 37 11 124440003 124440003 + Silent SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:124440003C>G ENST00000284287.3 + 1 111 c.39C>G c.(37-39)ccC>ccG p.P13P NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) GCAGGCCTCCCACCCAGAGGA 0.522000 19 41 0 0 1 0 0 CCT5 22948 broad.mit.edu 37 5 10254823 10254823 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:10254823G>T ENST00000280326.4 + 3 624 c.204G>T c.(202-204)gtG>gtT p.V68V CCT5_ENST00000503026.1_Silent_p.V47V|CCT5_ENST00000506600.1_Intron|CCT5_ENST00000515390.1_Intron|CCT5_ENST00000515676.1_Silent_p.V30V NM_012073.3 NP_036205.1 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 68 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2) 26 ATGGAGATGTGACTGTAACTA 0.408000 45 84 2.00842e-17 3.01513e-17 1 1 0 FPGS 2356 broad.mit.edu 37 9 130569891 130569891 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr9:130569891C>G ENST00000373245.1 + 8 718 c.668C>G c.(667-669)tCt>tGt p.S223C FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373225.3_Missense_Mutation_p.S173C|FPGS_ENST00000393706.2_Missense_Mutation_p.S197C|FPGS_ENST00000373247.2_Missense_Mutation_p.S223C Q05932 FOLC_HUMAN folylpolyglutamate synthase 223 folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process cytosol|mitochondrial matrix ATP binding|tetrahydrofolylpolyglutamate synthase activity endometrium(2)|kidney(1)|lung(3)|ovary(1) 7 L-Glutamic Acid(DB00142) GGAGTCTCCTCTCTTGGCATC 0.632000 12 19 0 0 1 0 0 SEC14L3 266629 broad.mit.edu 37 22 30860810 30860810 + Nonsense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr22:30860810C>A ENST00000403066.1 - 9 767 c.484G>T c.(484-486)Gga>Tga p.G162* SEC14L3_ENST00000415957.2_Nonsense_Mutation_p.G162*|SEC14L3_ENST00000402286.1_Nonsense_Mutation_p.G144*|SEC14L3_ENST00000215812.4_Nonsense_Mutation_p.G221*|SEC14L3_ENST00000539629.1_Nonsense_Mutation_p.G162*|SEC14L3_ENST00000540910.1_Nonsense_Mutation_p.G144*|SEC14L3_ENST00000401751.1_Nonsense_Mutation_p.G162* Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 221 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) TACTTACTTCCCAACACAATA 0.468000 37 71 4.00102e-26 6.42297e-26 1 1 0 FSIP2 401024 broad.mit.edu 37 2 186673452 186673452 + Silent SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:186673452A>T ENST00000343098.5 + 17 19686 c.19686A>T c.(19684-19686)acA>acT p.T6562T FSIP2_ENST00000424728.1_Silent_p.T6473T NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TTAACTCAACAATTTCAAATG 0.313000 21 48 0 0 1 0 0 SKIV2L 6499 broad.mit.edu 37 6 31934831 31934831 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr6:31934831G>A ENST00000375394.2 + 20 2504 c.2391G>A c.(2389-2391)gaG>gaA p.E797E SKIV2L_ENST00000544581.1_Silent_p.E604E NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 797 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 GAGCTTTGGAGGAGCCTGACA 0.587000 43 33 0 0 1 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65157744 65157744 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr15:65157744C>T ENST00000323544.4 + 6 1258 c.1130C>T c.(1129-1131)cCc>cTc p.P377L AC069368.3_ENST00000437723.1_Intron NM_001195059.1|NM_025201.4 NP_001181988.1|NP_079477.2 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O member 2 377 Pro-rich. NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 GCACTGCCCCCCTGGGACCTG 0.622000 17 34 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163279797 163279797 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:163279797T>A ENST00000328032.4 - 8 2393 c.2182A>T c.(2182-2184)Ata>Tta p.I728L KCNH7_ENST00000332142.5_Intron NM_173162.2 NP_775185.1 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 0 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) ATTTTGGCTATCACTATAATG 0.418000 16 90 0 0 1 0 0 MIR1324 100302212 broad.mit.edu 37 3 75679997 75679997 + RNA SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:75679997C>A ENST00000408868.1 + 0 84 NR_031714.1 TATGCACTTTCCTGGAGGCTC 0.512000 4 55 0.014758 0.0150327 1 1 0 DHX58 79132 broad.mit.edu 37 17 40255747 40255747 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr17:40255747G>T ENST00000251642.3 - 12 1855 c.1633C>A c.(1633-1635)Cag>Aag p.Q545K NM_024119.2 NP_077024.2 Q96C10 DHX58_HUMAN DEXH (Asp-Glu-X-His) box polypeptide 58 545 innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GGGAACTGCTGCCGCTGGTTC 0.662000 13 47 9.31168e-06 1.05567e-05 1 1 0 CUTC 51076 broad.mit.edu 37 10 101503044 101503044 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:101503044G>T ENST00000370476.5 + 4 457 c.328G>T c.(328-330)Ggt>Tgt p.G110C CUTC_ENST00000493385.1_3'UTR NM_015960.2 NP_057044.2 Q9NTM9 CUTC_HUMAN cutC copper transporter 110 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) CAAGCTTTATGGTGCTGATGG 0.428000 23 94 6.44725e-10 8.24044e-10 1 1 0 SLC2A3 6515 broad.mit.edu 37 12 8074210 8074210 + Nonsense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:8074210G>C ENST00000075120.7 - 10 1530 c.1290C>G c.(1288-1290)taC>taG p.Y430* NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 430 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) TAATAAAAACGTAGGCTCCTA 0.403000 24 66 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201470324 201470324 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:201470324C>A ENST00000374700.2 + 10 1121 c.880C>A c.(880-882)Ctg>Atg p.L294M NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 294 FAD-binding PCMH-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) AATTGAAGAACTGAGTGTTGT 0.343000 14 65 0.000219431 0.000236734 1 1 0 G6PC 2538 broad.mit.edu 37 17 41063082 41063082 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr17:41063082T>C ENST00000253801.2 + 5 792 c.713T>C c.(712-714)cTg>cCg p.L238P G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR NM_000151.3 NP_000142.2 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 238 gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) CTGTGGACTCTGGAGAAAGCC 0.532000 39 21 0 0 1 0 0 MRGPRD 116512 broad.mit.edu 37 11 68747859 68747859 + Silent SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:68747859C>G ENST00000309106.3 - 1 596 c.597G>C c.(595-597)ctG>ctC p.L199L NM_198923.2 NP_944605.2 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 199 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CAAAGAGGGTCAGGCTGGACA 0.592000 18 28 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605231 140605231 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:140605231G>A ENST00000239449.4 + 1 2154 c.2154G>A c.(2152-2154)agG>agA p.R718R PCDHB14_ENST00000515856.2_Silent_p.R565R NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 718 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGGAGCAGGGCGGCCTCGG 0.672000 33 123 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21119496 21119496 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr22:21119496C>A ENST00000255882.6 - 21 2552 c.2466G>T c.(2464-2466)ggG>ggT p.G822G PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000572273.1_Silent_p.G764G NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 764 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TTTCACAGACCCCCTCGTACC 0.502000 52 124 1.21353e-23 1.91745e-23 1 1 0 SPATA8 145946 broad.mit.edu 37 15 97326909 97326909 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr15:97326909G>T ENST00000328504.3 + 1 291 c.24G>T c.(22-24)ggG>ggT p.G8G SPATA8_ENST00000558553.1_Intron NM_173499.3 NP_775770.1 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 8 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) GGATGTCAGGGGCCCAGGACA 0.557000 17 28 5.26018e-13 7.2796e-13 1 1 0 MZT2B 80097 broad.mit.edu 37 2 130948089 130948089 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:130948089G>T ENST00000281871.6 + 3 722 c.367G>T c.(367-369)Gaa>Taa p.E123* MZT2B_ENST00000409255.1_Nonsense_Mutation_p.E183* NM_025029.3 NP_079305.2 Q6NZ67 MZT2B_HUMAN mitotic spindle organizing protein 2B 123 centrosome|gamma-tubulin ring complex|spindle protein binding lung(1) 1 GGCCCTGGCGGAACGCAGCAG 0.657000 16 19 1.15088e-07 1.35054e-07 1 1 0 TIPRL 261726 broad.mit.edu 37 1 168148409 168148409 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:168148409G>T ENST00000367833.2 + 1 239 c.94G>T c.(94-96)Gat>Tat p.D32Y TIPRL_ENST00000367830.3_Missense_Mutation_p.D32Y NM_152902.3 NP_690866.1 O75663 TIPRL_HUMAN TIP41, TOR signaling pathway regulator-like (S. cerevisiae) 32 DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity cytoplasm protein binding breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1) 6 all_hematologic(923;0.215) GAAGTCGGCGGATGTGGAGAA 0.652000 18 23 1.67942e-08 2.06328e-08 1 1 0 SLC17A3 10786 broad.mit.edu 37 6 25850032 25850032 + Splice_Site SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr6:25850032C>A ENST00000397060.4 - 10 1381 c.e10+1 SLC17A3_ENST00000361703.6_Splice_Site|SLC17A3_ENST00000360657.3_Splice_Site NM_001098486.1 NP_001091956.1 O00476 NPT4_HUMAN solute carrier family 17 (organic anion transporter), member 3 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 CAGAGTCCTACCTTGGAGCAA 0.413000 14 83 1.5842e-08 1.95829e-08 1 1 0 ABCB1 5243 broad.mit.edu 37 7 87150137 87150137 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:87150137T>A ENST00000265724.3 - 23 3158 c.2741A>T c.(2740-2742)cAg>cTg p.Q914L ABCB1_ENST00000543898.1_Missense_Mutation_p.Q850L|ABCB1_ENST00000488737.2_5'UTR NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 914 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTCAAACTTCTGCTCCTGAGT 0.413000 26 52 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29346913 29346913 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr15:29346913A>G ENST00000558402.1 + 5 1425 c.826A>G c.(826-828)Agg>Ggg p.R276G APBA2_ENST00000411764.1_Missense_Mutation_p.R276G|APBA2_ENST00000561069.1_Missense_Mutation_p.R276G|APBA2_ENST00000558330.1_Missense_Mutation_p.R276G|APBA2_ENST00000558259.1_Missense_Mutation_p.R276G Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 276 nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CAGCCCCAGCAGGCACGAGGC 0.677000 5 16 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164564 139164564 + Silent SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:139164564A>G ENST00000395297.1 - 13 2324 c.2154T>C c.(2152-2154)gtT>gtC p.V718V NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 718 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CATGTCTTCGAACAAACGGGT 0.562000 HNSCC(54;0.14) 22 38 0 0 1 0 0 SLC6A14 11254 broad.mit.edu 37 X 115584235 115584235 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chrX:115584235G>A ENST00000371900.4 + 9 1301 c.1213G>A c.(1213-1215)Ggt>Agt p.G405S NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 405 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) ACTCCCAGGTGGTCCATTTTG 0.363000 19 29 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101374870 101374870 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:101374870T>C ENST00000344327.3 - 2 1254 c.830A>G c.(829-831)tAt>tGt p.Y277C TRPC6_ENST00000532133.1_Missense_Mutation_p.Y277C|TRPC6_ENST00000348423.4_Missense_Mutation_p.Y277C|TRPC6_ENST00000360497.4_Missense_Mutation_p.Y277C NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 277 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CAGGCCTTTATAGGCATTAAT 0.448000 23 180 0 0 1 0 0 RHPN1 114822 broad.mit.edu 37 8 144464083 144464083 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:144464083C>T ENST00000289013.6 + 14 1843 c.1742C>T c.(1741-1743)gCg>gTg p.A581V NM_052924.2 NP_443156.2 Q8TCX5 RHPN1_HUMAN rhophilin, Rho GTPase binding protein 1 606 PDZ. signal transduction intracellular endometrium(1)|large_intestine(1)|lung(7) 9 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) GCGGGAGAGGCGGGCGCCAGC 0.672000 3 19 0 0 1 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143913130 143913130 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:143913130T>A ENST00000409869.1 + 3 248 c.71T>A c.(70-72)gTg>gAg p.V24E ARHGAP15_ENST00000295095.6_Missense_Mutation_p.V24E Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 24 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) ACAGGAGCTGTGCAAATGAGA 0.423000 22 30 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70587496 70587496 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:70587496G>T ENST00000310961.5 + 27 4832 c.4414G>T c.(4414-4416)Gaa>Taa p.E1472* LRRC7_ENST00000035383.5_Nonsense_Mutation_p.E1514*|LRRC7_ENST00000415775.2_Nonsense_Mutation_p.E798* Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1514 PDZ. centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TATGGAACATGAAAAAGCTGT 0.318000 36 60 3.76114e-14 5.31503e-14 1 1 0 SIGLEC7 27036 broad.mit.edu 37 19 51656387 51656387 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:51656387G>A ENST00000317643.6 + 7 1358 c.1289G>A c.(1288-1290)gGg>gAg p.G430E SIGLEC7_ENST00000600577.1_3'UTR|CTD-3187F8.14_ENST00000600074.1_RNA|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.G337E NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 430 cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) CACTCCTCAGGGGAGGAAAGA 0.542000 53 109 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31355344 31355344 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr15:31355344C>T ENST00000542188.1 - 7 1306 c.993G>A c.(991-993)gcG>gcA p.A331A TRPM1_ENST00000397795.2_Silent_p.A292A|TRPM1_ENST00000256552.6_Silent_p.A314A NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 292 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) AGTACTTGTGCGCAAAGGACA 0.547000 15 41 0 0 1 0 0 FARSA 2193 broad.mit.edu 37 19 13041496 13041496 + Missense_Mutation SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:13041496C>G ENST00000588025.1 - 3 475 c.335G>C c.(334-336)cGg>cCg p.R112P FARSA_ENST00000314606.4_Missense_Mutation_p.R72P|FARSA_ENST00000423140.2_Missense_Mutation_p.R72P|CTC-425F1.2_ENST00000592636.1_RNA Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 72 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 20 L-Phenylalanine(DB00120) GCTGCCCTCCCGGGCAATCTC 0.627000 4 29 0 0 1 0 0 DKK1 22943 broad.mit.edu 37 10 54074344 54074344 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:54074344C>A ENST00000373970.3 + 1 289 c.150C>A c.(148-150)ggC>ggA p.G50G NM_012242.2 NP_036374.1 O94907 DKK1_HUMAN dickkopf WNT signaling pathway inhibitor 1 50 negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 16 CACCGCTGGGCGGCGCTGCGG 0.647000 OREG0020191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 29 0.00010058 0.000109294 1 1 0 DSG3 1830 broad.mit.edu 37 18 29039000 29039000 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr18:29039000C>A ENST00000257189.4 + 5 460 c.377C>A c.(376-378)aCa>aAa p.T126K NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 126 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding p.T126K(1) breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TCCTAGATCACATGTCGGGCT 0.363000 31 32 2.70662e-09 3.40164e-09 1 1 0 LCE3B 353143 broad.mit.edu 37 1 152586355 152586355 + Silent SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:152586355A>G ENST00000335633.1 + 1 69 c.69A>G c.(67-69)ccA>ccG p.P23P NM_178433.1 NP_848520.1 Q5TA77 LCE3B_HUMAN late cornified envelope 3B 23 Cys-rich. keratinization large_intestine(1)|lung(2)|prostate(1) 4 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367) AGTGCCCCCCAAAGAGCTCAG 0.632000 39 43 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4810267 4810267 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:4810267A>T ENST00000354582.6 + 45 6103 c.5753A>T c.(5752-5754)aAa>aTa p.K1918I ITPR1_ENST00000423119.2_Missense_Mutation_p.K1885I|ITPR1_ENST00000357086.4_Missense_Mutation_p.K1885I|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.K1918I|ITPR1_ENST00000456211.2_Missense_Mutation_p.K1870I|ITPR1_ENST00000302640.8_Missense_Mutation_p.K1918I Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1933 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GCCACCAGGAAAGCCTTCACC 0.587000 8 77 0 0 1 0 0 PRSS38 339501 broad.mit.edu 37 1 228033808 228033808 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:228033808A>G ENST00000366757.3 + 5 904 c.880A>G c.(880-882)Atc>Gtc p.I294V NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 294 proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 TAACATAGAAATCACGCCCAC 0.557000 15 62 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 32949131 32949131 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:32949131T>C ENST00000340811.4 - 11 2377 c.2269A>G c.(2269-2271)Aac>Gac p.N757D PKP2_ENST00000070846.6_Missense_Mutation_p.N801D NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 801 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGGATTATGTTGTTCAATGTG 0.458000 22 49 0 0 1 0 0 ASB5 140458 broad.mit.edu 37 4 177143571 177143571 + Splice_Site SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:177143571C>A ENST00000296525.3 - 3 390 c.276_splice c.e3-1 p.G93_splice ASB5_ENST00000512254.1_Splice_Site_p.G40_splice|ASB5_ENST00000511879.1_5'UTR NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 93 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) ACATTATAACCCTAAATGTGG 0.398000 4 46 0.014758 0.0150327 1 1 0 TMCO3 55002 broad.mit.edu 37 13 114150319 114150319 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr13:114150319C>T ENST00000434316.2 + 2 782 c.423C>T c.(421-423)gcC>gcT p.A141A TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Silent_p.A141A NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 141 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) GCCTGGAGGCCCTGAGAGAGG 0.567000 6 9 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52322092 52322092 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:52322092G>T ENST00000356297.4 - 17 2192 c.2092C>A c.(2092-2094)Cgc>Agc p.R698S PXDNL_ENST00000543296.1_Missense_Mutation_p.R698S NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 698 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTGAGGGAGCGCGGGGACACC 0.607000 7 27 1.12685e-05 1.27034e-05 1 1 0 LALBA 3906 broad.mit.edu 37 12 48962359 48962359 + Silent SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:48962359G>A ENST00000549817.1 - 3 354 c.309C>T c.(307-309)gaC>gaT p.D103D LALBA_ENST00000301046.2_Silent_p.D103D P00709 LALBA_HUMAN lactalbumin, alpha- 103 cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction extracellular space calcium ion binding|lactose synthase activity large_intestine(1)|stomach(2) 3 CATCAGTAATGTCATCATCCA 0.433000 16 94 0 0 1 0 0 TMEM59L 25789 broad.mit.edu 37 19 18731233 18731233 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:18731233C>A ENST00000600490.1 + 9 1101 c.916C>A c.(916-918)Cag>Aag p.Q306K TMEM59L_ENST00000262817.3_Missense_Mutation_p.Q306K Q9UK28 TM59L_HUMAN transmembrane protein 59-like 306 Golgi membrane|integral to membrane|membrane fraction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2) 13 GACCCTGGAGCAGCACAAGGG 0.642000 5 28 0.184627 0.185243 1 1 0 TRPM4 54795 broad.mit.edu 37 19 49671869 49671869 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:49671869C>T ENST00000252826.5 + 6 798 c.672C>T c.(670-672)ccC>ccT p.P224P TRPM4_ENST00000427978.2_Silent_p.P224P|TRPM4_ENST00000355712.5_5'UTR NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 224 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) TCCAGTTTCCCCTGGACTACA 0.652000 12 32 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579312 7579312 + Splice_Site SNP C C A rs55863639 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr17:7579312C>A ENST00000420246.2 - 4 507 c.375_splice c.e4+1 p.T125_splice TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 125 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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) GGCAACTGACCGTGCAAGTCA 0.537000 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) 36 40 2.75727e-19 4.19161e-19 1 1 0 CLEC4G 339390 broad.mit.edu 37 19 7794707 7794707 + Splice_Site SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:7794707C>T ENST00000328853.5 - 8 811 c.743_splice c.e8+1 p.S248_splice NM_001244856.1|NM_198492.3 NP_001231785.1|NP_940894.1 Q6UXB4 CLC4G_HUMAN C-type lectin domain family 4, member G 248 C-type lectin. integral to membrane protein binding|sugar binding breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1) 6 TTTCCCTCACCTGAAGCTGAG 0.622000 24 21 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9459603 9459603 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr20:9459603C>A ENST00000378501.2 + 36 3547 c.3532C>A c.(3532-3534)Cga>Aga p.R1178R PLCB4_ENST00000414679.2_Silent_p.A1177A|PLCB4_ENST00000378493.1_Silent_p.A1165A|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.R1178R|PLCB4_ENST00000378473.3_Silent_p.A1177A|PLCB4_ENST00000278655.4_Silent_p.A1165A NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 0 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AATTGGAAGCCGAGATGGACC 0.443000 6 24 8.12818e-05 8.88052e-05 1 1 0 ZNF10 7556 broad.mit.edu 37 12 133732504 133732504 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:133732504C>T ENST00000248211.6 + 5 894 c.672C>T c.(670-672)caC>caT p.H224H ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Intron|ZNF10_ENST00000426665.2_Silent_p.H224H NM_015394.4 NP_056209.2 P21506 ZNF10_HUMAN zinc finger protein 10 224 Missing (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) AAAACATTCACCTTATTCAGT 0.348000 11 50 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94046493 94046493 + Splice_Site SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr14:94046493A>T ENST00000553484.1 + 19 2587 c.e19-1 UNC79_ENST00000393151.2_Splice_Site|UNC79_ENST00000256339.4_Splice_Site|UNC79_ENST00000555664.1_Splice_Site Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GATGTCTTTCAGATGGAGTTA 0.398000 25 31 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174781 150174781 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:150174781G>T ENST00000307271.3 + 5 2485 c.1911G>T c.(1909-1911)caG>caT p.Q637H NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 637 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CCCATACACAGGAGAACGTCA 0.423000 32 76 4.66903e-05 5.15735e-05 1 1 0 CATSPER3 347732 broad.mit.edu 37 5 134345148 134345148 + Nonsense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:134345148C>T ENST00000282611.6 + 6 990 c.904C>T c.(904-906)Cag>Tag p.Q302* NM_178019.2 NP_821138.1 Q86XQ3 CTSR3_HUMAN cation channel, sperm associated 3 302 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCAGCGGCAGCAGGAGGAGAT 0.562000 12 63 0 0 1 0 0 FAF1 11124 broad.mit.edu 37 1 51005287 51005287 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:51005287T>C ENST00000396153.2 - 14 1833 c.1382A>G c.(1381-1383)aAt>aGt p.N461S FAF1_ENST00000371778.4_Missense_Mutation_p.N461S|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Missense_Mutation_p.N219S NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 461 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.0?(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) CAACACTTCATTAGATGATCG 0.398000 9 33 0 0 1 0 0 KLK6 5653 broad.mit.edu 37 19 51466763 51466763 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:51466763C>A ENST00000376851.3 - 4 679 c.240G>T c.(238-240)agG>agT p.R80S KLK6_ENST00000424910.2_Missense_Mutation_p.G28V|KLK6_ENST00000391808.1_5'UTR|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.R80S|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000594641.1_Missense_Mutation_p.R80S NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 80 Peptidase S1. Cleavage; by autolysis. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) GGGAACTCTCCCTTTGCCGAA 0.582000 4 57 1.76689e-08 2.15318e-08 1 1 0 GPR112 139378 broad.mit.edu 37 X 135405179 135405179 + Nonsense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chrX:135405179G>T ENST00000394143.1 + 5 604 c.313G>T c.(313-315)Gga>Tga p.G105* GPR112_ENST00000287534.4_Nonsense_Mutation_p.G42*|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Nonsense_Mutation_p.G105* NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 105 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ATACAGATTGGGAAAGACCTT 0.438000 70 44 5.61366e-43 9.41343e-43 1 1 0 COL24A1 255631 broad.mit.edu 37 1 86377098 86377098 + Nonsense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:86377098C>A ENST00000370571.2 - 25 2947 c.2581G>T c.(2581-2583)Gga>Tga p.G861* COL24A1_ENST00000436319.1_Nonsense_Mutation_p.G861* NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 861 Collagen-like 6. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CCAACTTCTCCAGGTAAGCCA 0.343000 37 70 9.88483e-10 1.25541e-09 1 1 0 SPEG 10290 broad.mit.edu 37 2 220333962 220333962 + Silent SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:220333962G>T ENST00000312358.7 + 13 3708 c.3576G>T c.(3574-3576)cgG>cgT p.R1192R SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1192 Ig-like 6. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) ACTTCCTGCGGCCACTGCAGG 0.627000 9 24 0.000274275 0.000293796 1 1 0 KLHL22 84861 broad.mit.edu 37 22 20819800 20819800 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr22:20819800G>C ENST00000328879.4 - 4 613 c.457C>G c.(457-459)Ctc>Gtc p.L153V KLHL22_ENST00000440659.2_Missense_Mutation_p.L10V NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 153 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TAGACATCGAGAATGTTCTCT 0.502000 36 60 0 0 1 0 0 PPP1R16A 84988 broad.mit.edu 37 8 145725977 145725977 + Silent SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:145725977C>A ENST00000292539.4 + 7 1730 c.813C>A c.(811-813)gcC>gcA p.A271A PPP1R16A_ENST00000435887.1_Silent_p.A271A Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory subunit 16A 271 plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CGCTGCACGCCGCGGCCTACT 0.721000 10 15 2.80697e-09 3.51309e-09 1 1 0 PDGFRB 5159 broad.mit.edu 37 5 149505025 149505025 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:149505025C>A ENST00000261799.4 - 12 2259 c.1790G>T c.(1789-1791)cGg>cTg p.R597L NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 597 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity p.R597Q(1) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) AAGCTGGTCCCGCGGCAGCTC 0.597000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 6 35 0.00116845 0.00123188 1 1 0 KEAP1 9817 broad.mit.edu 37 19 10602767 10602767 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:10602767C>A ENST00000171111.5 - 3 1358 c.811G>T c.(811-813)Gtg>Ttg p.V271L KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.V271L NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 271 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TGGCAGCGCACGGCCCGCAGC 0.617000 24 25 1.1804e-14 1.68388e-14 1 1 0 FAT1 2195 broad.mit.edu 37 4 187525712 187525712 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:187525712C>A ENST00000441802.2 - 18 10576 c.10367G>T c.(10366-10368)gGc>gTc p.G3456V NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3456 Cadherin 32. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CACGCTGAAGCCCACTGGCTT 0.398000 HNSCC(5;0.00058) 4 15 0.00909568 0.00937603 1 1 0 TM2D3 80213 broad.mit.edu 37 15 102191914 102191914 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr15:102191914C>A ENST00000333202.3 - 2 159 c.154G>T c.(154-156)Gtt>Ttt p.V52F TM2D3_ENST00000559107.1_Missense_Mutation_p.V52F|TM2D3_ENST00000347970.3_Intron|TM2D3_ENST00000428002.2_Intron NM_078474.2 NP_510883.2 Q9BRN9 TM2D3_HUMAN TM2 domain containing 3 52 integral to membrane central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1) 10 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GCCCTGGGAACTACTGTGAAT 0.388000 24 110 3.01185e-09 3.7539e-09 1 1 0 PTPRT 11122 broad.mit.edu 37 20 40790168 40790168 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr20:40790168C>A ENST00000373198.3 - 18 2807 c.2572G>T c.(2572-2574)Ggg>Tgg p.G858W PTPRT_ENST00000373193.3_Missense_Mutation_p.G839W|PTPRT_ENST00000356100.2_Missense_Mutation_p.G845W|PTPRT_ENST00000373201.1_Missense_Mutation_p.G826W|PTPRT_ENST00000373184.1_Missense_Mutation_p.G826W|PTPRT_ENST00000373187.1_Missense_Mutation_p.G836W|PTPRT_ENST00000373190.1_Missense_Mutation_p.G835W NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 836 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.S856fs*21(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GAAAGCTCCCCGCGGCTGCCA 0.592000 25 55 7.87624e-14 1.11042e-13 1 1 0 VWA3B 200403 broad.mit.edu 37 2 98744862 98744862 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:98744862C>A ENST00000477737.1 + 6 1067 c.863C>A c.(862-864)aCc>aAc p.T288N VWA3B_ENST00000435344.1_Missense_Mutation_p.T288N|VWA3B_ENST00000451075.2_Missense_Mutation_p.T138N NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 288 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 AGTGCCAAGACCCACAGCAGG 0.522000 21 30 3.62473e-10 4.66258e-10 1 1 0 COPA 1314 broad.mit.edu 37 1 160283840 160283840 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:160283840T>A ENST00000241704.7 - 9 1011 c.782A>T c.(781-783)cAa>cTa p.Q261L COPA_ENST00000368069.3_Missense_Mutation_p.Q261L NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 261 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GATCAACTCTTGGCGAGGGTG 0.463000 30 29 0 0 1 0 0 HIST3H3 8290 broad.mit.edu 37 1 228612708 228612708 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:228612708C>T ENST00000366696.1 - 1 318 c.319G>A c.(319-321)Gac>Aac p.D107N NM_003493.2 NP_003484.1 Q16695 H31T_HUMAN histone cluster 3, H3 107 nucleosome assembly|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(1)|lung(2)|prostate(2)|skin(1) 6 Prostate(94;0.0724) AGGTTGGTGTCCTCAAACAGC 0.617000 15 77 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26446316 26446316 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:26446316G>C ENST00000265944.5 + 26 3037 c.2871G>C c.(2869-2871)gaG>gaC p.E957D MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 957 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CAAATAGTGAGCGTCAGGCAA 0.398000 19 46 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57573272 57573272 + Silent SNP C C T rs141892093 byFrequency TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:57573272C>T ENST00000243077.3 + 29 5365 c.4899C>T c.(4897-4899)gaC>gaT p.D1633D NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1633 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ACTGGTCTGACGTGCGGACAC 0.592000 18 46 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48232097 48232097 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr16:48232097C>T ENST00000394747.1 - 15 2521 c.2172G>A c.(2170-2172)ggG>ggA p.G724G ABCC11_ENST00000537808.1_Silent_p.G724G|ABCC11_ENST00000394748.1_Silent_p.G724G|ABCC11_ENST00000353782.5_Silent_p.G724G|ABCC11_ENST00000356608.2_Silent_p.G724G NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 724 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GGGCATATTTCCCCTTTTTCT 0.473000 36 38 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12725670 12725670 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chrX:12725670T>A ENST00000380682.1 + 13 1876 c.1370T>A c.(1369-1371)cTg>cAg p.L457Q NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 457 FERM. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 AAAACCAATCTGGTGGCTCTT 0.512000 46 34 0 0 1 0 0 REXO1 57455 broad.mit.edu 37 19 1827787 1827787 + Missense_Mutation SNP A A G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:1827787A>G ENST00000170168.4 - 2 1095 c.1001T>C c.(1000-1002)cTg>cCg p.L334P REXO1_ENST00000587524.1_5'UTR NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 334 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTCTCCCGCAGGCCGCCCCC 0.726000 6 4 0 0 1 0 0 IL3RA 3563 broad.mit.edu 37 X 1471285 1471285 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chrX:1471285G>A ENST00000331035.4 + 6 851 c.502G>A c.(502-504)Gat>Aat p.D168N IL3RA_ENST00000381469.2_Missense_Mutation_p.D90N NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 168 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GTGTCGTTTCGATGACATCTC 0.557000 68 79 0 0 1 0 0 CLEC2L 154790 broad.mit.edu 37 7 139225158 139225158 + Missense_Mutation SNP A A T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:139225158A>T ENST00000422142.2 + 3 429 c.357A>T c.(355-357)agA>agT p.R119S NM_001080511.2 NP_001073980.2 P0C7M8 CLC2L_HUMAN C-type lectin domain family 2, member L 119 C-type lectin. integral to membrane sugar binding NS(1)|endometrium(1)|kidney(2)|lung(1) 5 Melanoma(164;0.233) AGGAACCCAGAGACTGGAACA 0.602000 4 11 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141812830 141812830 + Splice_Site SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:141812830T>A ENST00000389484.3 - 10 2380 c.e10-2 NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.?(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGCTTCTGACTACAACAAATA 0.398000 TSP Lung(27;0.18) 14 35 0 0 1 0 0 HRASLS 57110 broad.mit.edu 37 3 192973578 192973578 + Splice_Site SNP G G T rs149064282 byFrequency TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:192973578G>T ENST00000264735.2 + 2 548 c.454_splice c.e2+1 p.D152_splice HRASLS_ENST00000602513.1_Splice_Site_p.D47_splice NM_020386.4 NP_065119.2 Q9HDD0 HRSL1_HUMAN HRAS-like suppressor 47 breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 10 all_cancers(143;9.1e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000159) AGCACCTGTAGGTGAGGTTTA 0.448000 54 57 3.73128e-16 5.45202e-16 1 1 0 KIAA1462 57608 broad.mit.edu 37 10 30318686 30318686 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:30318686G>T ENST00000375377.1 - 3 492 c.391C>A c.(391-393)Cac>Aac p.H131N NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 131 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 AGGTTTTCGTGCTCCCTCGGC 0.607000 27 112 7.92952e-12 1.06079e-11 1 1 0 SYMPK 8189 broad.mit.edu 37 19 46332379 46332379 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:46332379C>T ENST00000245934.7 - 14 2078 c.1834G>A c.(1834-1836)Gtg>Atg p.V612M NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 612 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CGGGCCCGCACATCCTCCAGG 0.637000 37 51 0 0 1 0 0 IMPAD1 54928 broad.mit.edu 37 8 57905851 57905851 + Silent SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:57905851C>G ENST00000262644.4 - 1 552 c.294G>C c.(292-294)acG>acC p.T98T NM_017813.4 NP_060283.3 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 98 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) CTCCCTCGCGCGTCTTCCCCT 0.657000 11 18 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144997430 144997430 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:144997430G>A ENST00000322810.4 - 31 7247 c.7078C>T c.(7078-7080)Cgc>Tgc p.R2360C PLEC_ENST00000398774.2_Missense_Mutation_p.R2191C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2223C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2227C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2246C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2223C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2250C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2201C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2209C NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2360 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ACCTGGCTGCGCTGGCGTGCG 0.652000 5 32 0 0 1 0 0 NPAT 4863 broad.mit.edu 37 11 108057231 108057231 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:108057231G>A ENST00000278612.8 - 8 809 c.704C>T c.(703-705)cCa>cTa p.P235L NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 235 Interaction with MIZF. positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) AAAAGCGTTTGGATCTTGGAA 0.328000 29 44 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48801538 48801538 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:48801538C>A ENST00000315396.7 - 11 1871 c.1189G>T c.(1189-1191)Ggg>Tgg p.G397W NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 397 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) GTCTTGACCCCAAGGAGGTCA 0.602000 12 71 0.00010058 0.000109294 1 1 0 C11orf84 144097 broad.mit.edu 37 11 63594606 63594606 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:63594606G>T ENST00000294244.4 + 6 1440 c.1141G>T c.(1141-1143)Gtg>Ttg p.V381L NM_138471.1 NP_612480.1 Q9BUA3 CK084_HUMAN chromosome 11 open reading frame 84 381 endometrium(3)|kidney(1)|lung(3)|skin(1) 8 AGGGAATGGAGTGTAAATTCT 0.587000 19 21 5.35267e-07 6.20868e-07 1 1 0 TRPM2 7226 broad.mit.edu 37 21 45784046 45784046 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr21:45784046G>T ENST00000397928.1 + 3 749 c.304G>T c.(304-306)Gct>Tct p.A102S TRPM2_ENST00000300482.5_Missense_Mutation_p.A102S|TRPM2_ENST00000397932.2_Missense_Mutation_p.A102S|TRPM2_ENST00000300481.9_Missense_Mutation_p.A102S NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 102 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CTTGGAGGAGGCTACCAAGCC 0.587000 4 45 0.00909568 0.00937603 1 1 0 MIR520H 574493 broad.mit.edu 37 19 54245850 54245850 + RNA SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr19:54245850G>C ENST00000385126.1 + 0 85 NR_030215.1 GTTACTGTTTGGGAAAAGCAG 0.403000 13 47 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32029263 32029263 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr6:32029263C>A ENST00000375244.3 - 21 7604 c.7403G>T c.(7402-7404)gGc>gTc p.G2468V TNXB_ENST00000375247.2_Missense_Mutation_p.G2468V P22105 TENX_HUMAN tenascin XB 2528 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AGGCTCCAGGCCCCCCACGGT 0.687000 59 43 3.53049e-34 5.83888e-34 1 1 0 PDE6B 5158 broad.mit.edu 37 4 647648 647648 + Translation_Start_Site SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:647648T>A ENST00000429163.2 + 0 148 PDE6B_ENST00000255622.6_Missense_Mutation_p.L240Q|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000496514.1_Missense_Mutation_p.L240Q NM_001145292.1 NP_001138764.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CAGGTGCTGCTGTGGTCGGCC 0.622000 3 44 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103432 53103432 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:53103432T>C ENST00000408890.4 + 1 84 c.68T>C c.(67-69)cTg>cCg p.L23P NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 23 p.L23R(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GAACCCCTGCTGCAAGGCCCC 0.711000 9 16 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237780595 237780595 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:237780595C>A ENST00000366574.2 + 38 6042 c.5725C>A c.(5725-5727)Ctg>Atg p.L1909M RYR2_ENST00000360064.6_Missense_Mutation_p.L1907M|RYR2_ENST00000542537.1_Missense_Mutation_p.L1893M NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1909 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GATGTGCCTACTGCTTCAGTA 0.388000 3 23 0.004672 0.00486599 1 1 0 CCDC108 255101 broad.mit.edu 37 2 219895442 219895442 + Missense_Mutation SNP T T A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:219895442T>A ENST00000341552.5 - 9 1213 c.1130A>T c.(1129-1131)gAg>gTg p.E377V CCDC108_ENST00000409865.3_Missense_Mutation_p.E366V|CCDC108_ENST00000453220.1_Missense_Mutation_p.E377V|CCDC108_ENST00000441968.1_Missense_Mutation_p.E377V|CCDC108_ENST00000410037.1_Missense_Mutation_p.E312V NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 377 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GATCTGCCTCTCCGAGGTGCA 0.602000 13 43 0 0 1 0 0 ASIC4 55515 broad.mit.edu 37 2 220379409 220379409 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:220379409G>C ENST00000358078.4 + 1 358 c.344G>C c.(343-345)gGc>gCc p.G115A ASIC4_ENST00000347842.3_Missense_Mutation_p.G115A|AC053503.11_ENST00000429882.1_RNA Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 115 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity GAGGGACAGGGCAGGGAGGCT 0.612000 5 33 0 0 1 0 0 HTR6 3362 broad.mit.edu 37 1 19992542 19992542 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:19992542G>T ENST00000289753.1 + 1 763 c.296G>T c.(295-297)tGc>tTc p.C99F NM_000871.1 NP_000862.1 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled 99 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) CGCGGCCTCTGCCTGCTCTGG 0.667000 20 43 1.56452e-12 2.12606e-12 1 1 0 TRAV8-6 28680 broad.mit.edu 37 14 22446888 22446888 + RNA SNP C C T rs2075483 by1000genomes TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr14:22446888C>T ENST00000390443.3 + 0 190 CCGCCCAGCTCAAGGTCCTGC 0.532000 OREG0022573 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 84 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83933226 83933226 + Silent SNP T T C rs138172246 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr15:83933226T>C ENST00000345382.2 - 4 862 c.777A>G c.(775-777)tcA>tcG p.S259S RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.S252S NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 259 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 GTTCGGGCAATGACCCTATCA 0.502000 15 66 0 0 1 0 0 LHFPL4 375323 broad.mit.edu 37 3 9594069 9594069 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:9594069C>A ENST00000287585.6 - 2 580 c.295G>T c.(295-297)Gtg>Ttg p.V99L NM_198560.2 NP_940962.1 Q7Z7J7 LHPL4_HUMAN lipoma HMGIC fusion partner-like 4 99 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1) 10 Medulloblastoma(99;0.227) GAGAGCAGCACGAAGAAGGCG 0.632000 17 34 3.52763e-06 4.02967e-06 1 1 0 SORL1 6653 broad.mit.edu 37 11 121489536 121489536 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:121489536G>T ENST00000260197.7 + 42 5787 c.5658G>T c.(5656-5658)aaG>aaT p.K1886N SORL1_ENST00000534286.1_Missense_Mutation_p.K796N|SORL1_ENST00000527934.1_Missense_Mutation_p.K501N|SORL1_ENST00000532694.1_Missense_Mutation_p.K732N|SORL1_ENST00000525532.1_Missense_Mutation_p.K830N NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1886 Fibronectin type-III 4. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GCAACCCGAAGAGCTTGACTA 0.443000 116 141 9.06123e-46 1.52797e-45 1 1 0 CEP70 80321 broad.mit.edu 37 3 138244343 138244343 + Silent SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:138244343C>T ENST00000264982.3 - 11 1199 c.933G>A c.(931-933)aaG>aaA p.K311K CEP70_ENST00000489254.1_Silent_p.K159K|CEP70_ENST00000484888.1_Silent_p.K311K|CEP70_ENST00000481834.1_Silent_p.K311K|CEP70_ENST00000542237.1_Silent_p.K291K NM_024491.2 NP_077817.2 Q8NHQ1 CEP70_HUMAN centrosomal protein 70kDa 311 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 TGACGTTTTTCTTAAGGGCTT 0.229000 7 42 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940853 144940853 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:144940853G>C ENST00000525985.1 - 2 6640 c.6569C>G c.(6568-6570)gCc>gGc p.A2190G P58107 EPIPL_HUMAN epiplakin 1 2190 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGTGATTATGGCTGAGCTGAG 0.542000 26 287 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50139753 50139753 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr20:50139753G>A ENST00000371564.3 - 2 1246 c.1027C>T c.(1027-1029)Cgc>Tgc p.R343C NFATC2_ENST00000414705.1_Missense_Mutation_p.R323C|NFATC2_ENST00000396009.3_Missense_Mutation_p.R343C NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 343 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TAGATGTGGCGAGGCAGGCCG 0.682000 44 75 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178418879 178418879 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:178418879G>A ENST00000231188.5 - 2 888 c.710C>T c.(709-711)tCc>tTc p.S237F GRM6_ENST00000517717.1_Missense_Mutation_p.S237F NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 237 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) AGCCTCTCGGGAGATCTGAAC 0.622000 9 31 0 0 1 0 0 CHRNA2 1135 broad.mit.edu 37 8 27320915 27320915 + Missense_Mutation SNP C C T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:27320915C>T ENST00000407991.1 - 6 1653 c.1045G>A c.(1045-1047)Gtg>Atg p.V349M CHRNA2_ENST00000520933.2_Missense_Mutation_p.V349M|CHRNA2_ENST00000240132.2_Missense_Mutation_p.V334M NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 349 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) ACATTGAGCACGAAGACGGTG 0.627000 14 80 0 0 1 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55065337 55065337 + RNA SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:55065337G>T ENST00000526016.1 - 0 371 NR_038174.2 TCACTTACCCGGCGTTCCTCA 0.483000 9 33 5.68852e-11 7.47706e-11 1 1 0 GLDN 342035 broad.mit.edu 37 15 51689763 51689763 + Missense_Mutation SNP G G T rs143383924 byFrequency TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr15:51689763G>T ENST00000335449.6 + 6 841 c.785G>T c.(784-786)cGg>cTg p.R262L GLDN_ENST00000396399.2_Missense_Mutation_p.R138L NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 262 Pro-rich. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) AAAGGCCCTCGGCAGCCAAGC 0.642000 5 29 0.014758 0.0150327 1 1 0 EFHB 151651 broad.mit.edu 37 3 19975305 19975305 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:19975305C>A ENST00000295824.9 - 1 367 c.206G>T c.(205-207)gGg>gTg p.G69V EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 69 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 CATTTCAAGCCCCTTGCTCAA 0.458000 34 79 1.62565e-12 2.20414e-12 1 1 0 RB1 5925 broad.mit.edu 37 13 48947629 48947629 + Splice_Site SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr13:48947629G>T ENST00000267163.4 + 12 1353 c.e12+1 NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 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.?(23)|p.0?(15) 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) CTATTTTAACGTAAGCCATAT 0.279000 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) 28 53 1.04121e-07 1.23631e-07 1 1 0 TENM3 55714 broad.mit.edu 37 4 183714045 183714045 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr4:183714045G>T ENST00000511685.1 + 26 6343 c.6220G>T c.(6220-6222)Gta>Tta p.V2074L TENM3_ENST00000406950.2_Missense_Mutation_p.V2074L teneurin transmembrane protein 3 TTCTACAGCTGTAATGACCTA 0.358000 18 25 1.02788e-11 1.369e-11 1 1 0 FZD1 8321 broad.mit.edu 37 7 90895895 90895895 + Missense_Mutation SNP G G T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:90895895G>T ENST00000287934.2 + 1 2113 c.1700G>T c.(1699-1701)cGc>cTc p.R567L NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 567 autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CAGTGGGAACGCAGCTGGGTG 0.667000 16 33 1.15088e-07 1.35054e-07 1 1 0 GJA8 2703 broad.mit.edu 37 1 147380710 147380710 + Frame_Shift_Del DEL T T - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:147380710delT ENST00000240986.4 + 2 681 c.628delT c.(628-630)tgfs p.L210fs GJA8_ENST00000369235.1_Frame_Shift_Del_p.L210fs NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 210 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CCTGTTCATGTTGTCTGTGGC 0.602 27 91 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152084417 152084418 + In_Frame_Ins INS - - CTC TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:152084417_152084418insCTC ENST00000368804.1 - 2 1274_1275 c.1275_1276insGAG c.(1273-1278)ctggcg>ctGAGggcg p.425_426LA>LRA NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 425 8 X 6 AA tandem repeats of R-R-E-Q-Q-L.|9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) tgctcGCGCCTCAGCTGCTGCT 0.693 7 47 --- --- --- --- RPS10P7 376693 broad.mit.edu 37 1 201489731 201489731 + RNA DEL G G - rs4915234 by1000genomes TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:201489731delG ENST00000441932.1 + 0 1901 RP11-134G8.7_ENST00000454651.1_RNA NR_026667.1 AAAAAaaaaagaaagaaagct 0.423 3 5 --- --- --- --- PLXNA2 5362 broad.mit.edu 37 1 208201379 208201383 + Frame_Shift_Del DEL GAGTA GAGTA - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr1:208201379_208201383delGAGTA ENST00000367033.3 - 31 6317_6321 c.5560_5564delTACTC c.(5560-5565)cfs p.YS1854fs PLXNA2_ENST00000483048.1_5'UTR NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1854 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GCTGACATAGGAGTAGATCTCATTG 0.556 47 73 --- --- --- --- AQP12A 375318 broad.mit.edu 37 2 241631786 241631786 + Frame_Shift_Del DEL G G - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr2:241631786delG ENST00000429564.1 + 2 518 c.455delG c.(454-456)acfs p.S153fs AQP12A_ENST00000337801.4_Frame_Shift_Del_p.S141fs Q8IXF9 AQ12A_HUMAN aquaporin 12A 141 integral to membrane transporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(7) 14 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) CAGAGCTGCAGCTCGGCCCTG 0.692 2 4 --- --- --- --- OR5K3 403277 broad.mit.edu 37 3 98109624 98109625 + Frame_Shift_Ins INS - - T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:98109624_98109625insT ENST00000383695.1 + 1 115_116 c.115_116insT c.(115-117)ggtfs p.G39fs RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005516.1 NP_001005516.1 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, member 3 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 TCTGATCACCATGGTGGGGAAC 0.416 88 217 --- --- --- --- NEK11 79858 broad.mit.edu 37 3 130852765 130852766 + Frame_Shift_Del DEL GA GA - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr3:130852765_130852766delGA ENST00000383366.4 + 7 905_906 c.612_613delGA c.(610-615)ctaafs p.LK204fs NEK11_ENST00000429253.2_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000507910.1_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000356918.4_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000510688.1_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000510769.1_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000412440.2_Frame_Shift_Del_p.LK56fs|NEK11_ENST00000511262.1_Frame_Shift_Del_p.LK204fs NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 204 Protein kinase. cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 CTGAGGCTCTGAAACACCAAGG 0.446 11 96 --- --- --- --- LNPEP 4012 broad.mit.edu 37 5 96314964 96314964 + Frame_Shift_Del DEL C C - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:96314964delC ENST00000231368.5 + 2 834 c.142delC c.(142-144)ccfs p.P48fs LNPEP_ENST00000395770.3_Frame_Shift_Del_p.P34fs NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase 48 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) GGAATATGAGCCCCGGGGTTC 0.498 18 69 --- --- --- --- PCDHGB3 56102 broad.mit.edu 37 5 140751138 140751138 + Frame_Shift_Del DEL A A - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr5:140751138delA ENST00000576222.1 + 1 1308 c.1177delA c.(1177-1179)aafs p.K393fs PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCCCCTTTAAAATCGTTCA 0.458 10 38 --- --- --- --- HOXA3 3200 broad.mit.edu 37 7 27148281 27148282 + Frame_Shift_Del DEL GC GC - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:27148281_27148282delGC ENST00000396352.4 - 3 783_784 c.584_585delGC c.(583-585)cfs p.R195fs HOXA3_ENST00000317201.2_Frame_Shift_Del_p.R195fs|HOXA-AS2_ENST00000518088.1_RNA NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 195 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 TGTAGGCCGTGCGCGCGCGCTT 0.683 28 65 --- --- --- --- AMPH 273 broad.mit.edu 37 7 38433710 38433710 + Frame_Shift_Del DEL G G - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:38433710delG ENST00000356264.2 - 18 1718 c.1503delC c.(1501-1503)gcfs p.A501fs AMPH_ENST00000325590.5_Frame_Shift_Del_p.A459fs|AMPH_ENST00000428293.2_Frame_Shift_Del_p.A459fs|AMPH_ENST00000471913.1_5'UTR NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 501 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 CTCCTTCCCCGGCAGGGACAG 0.577 42 109 --- --- --- --- GRM8 2918 broad.mit.edu 37 7 126882938 126882938 + Frame_Shift_Del DEL A A - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:126882938delA ENST00000339582.2 - 2 1129 c.321delT c.(319-321)tcfs p.S107fs GRM8_ENST00000358373.3_Frame_Shift_Del_p.S107fs|GRM8_ENST00000444921.2_Frame_Shift_Del_p.S107fs|GRM8_ENST00000405249.1_Frame_Shift_Del_p.S107fs O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 107 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AGGTGTCCCTAGAGCACGTGT 0.478 HNSCC(24;0.065) 24 60 --- --- --- --- FAM115C 285966 broad.mit.edu 37 7 143417404 143417405 + Frame_Shift_Del DEL CT CT - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr7:143417404_143417405delCT ENST00000441159.2 + 3 1318_1319 c.1252_1253delCT c.(1252-1254)cfs p.L418fs FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs A6NFQ2 F115C_HUMAN family with sequence similarity 115, member C 418 endometrium(2)|large_intestine(4)|lung(2)|prostate(1) 9 CCGCAAGGCGCTCTCTCAATTC 0.530 5 2 --- --- --- --- LRRCC1 85444 broad.mit.edu 37 8 86021877 86021878 + Frame_Shift_Ins INS - - T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr8:86021877_86021878insT ENST00000414626.2 + 1 981_982 c.92_93insT c.(91-93)ctgfs p.L31fs LRRCC1_ENST00000360375.3_Frame_Shift_Ins_p.L51fs Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 51 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 GTCAATCTTCATTGCAATAACA 0.282 13 24 --- --- --- --- ABL1 25 broad.mit.edu 37 9 133759490 133759492 + In_Frame_Del DEL AAG AAG - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr9:133759490_133759492delAAG ENST00000318560.5 + 11 2194_2196 c.1813_1815delAAG c.(1813-1815)del p.K609del NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 609 Poly-Lys. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CGCCTTGATCAAGAAGAAGAAGA 0.616 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 10 136 --- --- --- --- ITPRIP 85450 broad.mit.edu 37 10 106075158 106075159 + Frame_Shift_Ins INS - - G rs3802671 by1000genomes TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr10:106075158_106075159insG ENST00000278071.2 - 3 1103_1104 c.651_652insC c.(649-654)ccagccfs p.A218fs ITPRIP_ENST00000337478.1_Frame_Shift_Ins_p.A218fs|ITPRIP_ENST00000358187.2_Frame_Shift_Ins_p.A218fs NM_033397.2 NP_203755.1 Q8IWB1 IPRI_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein 218 plasma membrane breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 CGGTAGGGCTCGGGGGGTGTGA 0.644 8 33 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6662746 6662748 + In_Frame_Del DEL CAG CAG - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:6662746_6662748delCAG ENST00000299441.3 - 2 508_510 c.97_99delCTG c.(97-99)del p.L33del NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 33 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L33_G34insL(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCCAGCCCCcagcagcagcagc 0.635 3 3 --- --- --- --- SF1 7536 broad.mit.edu 37 11 64536718 64536718 + Frame_Shift_Del DEL C C - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr11:64536718delC ENST00000377390.3 - 7 1093 c.756delG c.(754-756)ggfs p.G252fs SF1_ENST00000422298.2_Frame_Shift_Del_p.G137fs|SF1_ENST00000433274.2_Frame_Shift_Del_p.G226fs|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000377394.3_Frame_Shift_Del_p.G252fs|SF1_ENST00000377387.1_Frame_Shift_Del_p.G377fs|SF1_ENST00000334944.5_Frame_Shift_Del_p.G252fs|SF1_ENST00000227503.9_Frame_Shift_Del_p.G252fs NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 252 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 CCCGAAGGGTCCCATTTAAGC 0.463 47 86 --- --- --- --- KIF5A 3798 broad.mit.edu 37 12 57970143 57970143 + Frame_Shift_Del DEL C C - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr12:57970143delC ENST00000455537.2 + 19 2454 c.2180delC c.(2179-2181)acfs p.T727fs KIF5A_ENST00000286452.5_Frame_Shift_Del_p.T638fs NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 727 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 AAGCAGAAGACCATTGATGAG 0.597 16 26 --- --- --- --- AQP9 366 broad.mit.edu 37 15 58476198 58476199 + Frame_Shift_Ins INS - - T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr15:58476198_58476199insT ENST00000219919.4 + 6 1122_1123 c.752_753insT c.(751-753)cttfs p.L251fs AQP9_ENST00000536493.1_Frame_Shift_Ins_p.L251fs|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Frame_Shift_Ins_p.L186fs NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 251 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) GTAGTGGGCCCTTTGGTTGGTG 0.441 38 160 --- --- --- --- CCDC78 124093 broad.mit.edu 37 16 773872 773872 + Frame_Shift_Del DEL C C - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr16:773872delC ENST00000293889.6 - 11 1223 c.1118delG c.(1117-1119)gafs p.G373fs NM_001031737.2 NP_001026907.2 A2IDD5 CCD78_HUMAN coiled-coil domain containing 78 373 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3) 9 Hepatocellular(780;0.0218) CTCTGATGTTCCCCCCTGGGA 0.642 4 6 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 4 5 --- --- --- --- DNAH9 1770 broad.mit.edu 37 17 11515094 11515094 + Frame_Shift_Del DEL G G - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr17:11515094delG ENST00000262442.3 + 4 969 c.901delG c.(901-903)cafs p.A302fs DNAH9_ENST00000579828.1_Frame_Shift_Del_p.A301fs|DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Frame_Shift_Del_p.A302fs NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 302 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGATGTTGTTGCAGGTGAGGA 0.463 32 31 --- --- --- --- ZHX3 23051 broad.mit.edu 37 20 39832375 39832376 + Frame_Shift_Ins INS - - G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr20:39832375_39832376insG ENST00000309060.3 - 4 1596_1597 c.1181_1182insC c.(1180-1182)cctfs p.P394fs ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Frame_Shift_Ins_p.P394fs|ZHX3_ENST00000432768.2_Frame_Shift_Ins_p.P394fs|ZHX3_ENST00000540170.1_Frame_Shift_Ins_p.P394fs|ZHX3_ENST00000560361.1_Frame_Shift_Ins_p.P394fs|ZHX3_ENST00000559234.1_Frame_Shift_Ins_p.P394fs Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 394 Required for homodimerization and interaction with NFYA.|Required for repressor activity. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) TGGCGACGAGTGGGGTATTTAG 0.554 35 69 --- --- --- --- ANKRD20A18P 391269 broad.mit.edu 37 21 15441192 15441193 + RNA INS - - T rs148464975 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr21:15441192_15441193insT ENST00000428809.1 + 0 177 TGTATTTTGAATTCTTGGAATT 0.361 7 99 --- --- --- --- MX2 4600 broad.mit.edu 37 21 42775222 42775222 + Frame_Shift_Del DEL G G - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chr21:42775222delG ENST00000330714.3 + 12 1786 c.1602delG c.(1600-1602)gtfs p.V534fs NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 534 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) TCATTAACGTGGCCAAAAAAC 0.383 10 36 --- --- --- --- MAGEB1 4112 broad.mit.edu 37 X 30269243 30269243 + Frame_Shift_Del DEL G G - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chrX:30269243delG ENST00000378981.3 + 4 954 c.633delG c.(631-633)aafs p.K211fs MAGEB1_ENST00000397548.2_Frame_Shift_Del_p.K211fs|MAGEB1_ENST00000397550.1_Frame_Shift_Del_p.K211fs NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 211 MAGE. NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 TCTTCTTAAAGGGCAACTCTG 0.478 16 6 --- --- --- --- FTX 100302692 broad.mit.edu 37 X 73506653 73506654 + RNA INS - - A rs149262205 TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 94563be5-dde7-4c55-bc6e-14f2a1243839 g.chrX:73506653_73506654insA ENST00000429124.1 - 0 174 acctgtcccttaaaaaaaaaaa 0.455 3 2 --- --- --- --- GJA8 2703 broad.mit.edu 37 1 147380710 147380710 + Frame_Shift_Del DEL T T - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:147380710delT ENST00000240986.4 + 2 681 c.628delT c.(628-630)tgfs p.L210fs GJA8_ENST00000369235.1_Frame_Shift_Del_p.L210fs NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 210 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CCTGTTCATGTTGTCTGTGGC 0.602 27 91 --- --- --- --- RPS10P7 376693 broad.mit.edu 37 1 201489731 201489731 + RNA DEL G G - rs4915234 by1000genomes TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:201489731delG ENST00000441932.1 + 0 1901 RP11-134G8.7_ENST00000454651.1_RNA NR_026667.1 AAAAAaaaaagaaagaaagct 0.423 3 5 --- --- --- --- PLXNA2 5362 broad.mit.edu 37 1 208201379 208201383 + Frame_Shift_Del DEL GAGTA GAGTA - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr1:208201379_208201383delGAGTA ENST00000367033.3 - 31 6317_6321 c.5560_5564delTACTC c.(5560-5565)cfs p.YS1854fs PLXNA2_ENST00000483048.1_5'UTR NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1854 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GCTGACATAGGAGTAGATCTCATTG 0.556 47 73 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710017 38710019 + RNA DEL AAT AAT - rs2005502 by1000genomes TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr2:38710017_38710019delAAT ENST00000417039.1 - 0 696 TTCTTtaaaaaataaataaataa 0.246 4 2 --- --- --- --- OR5K3 403277 broad.mit.edu 37 3 98109624 98109625 + Frame_Shift_Ins INS - - T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:98109624_98109625insT ENST00000383695.1 + 1 115_116 c.115_116insT c.(115-117)ggtfs p.G39fs RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005516.1 NP_001005516.1 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, member 3 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 TCTGATCACCATGGTGGGGAAC 0.416 88 217 --- --- --- --- NEK11 79858 broad.mit.edu 37 3 130852765 130852766 + Frame_Shift_Del DEL GA GA - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr3:130852765_130852766delGA ENST00000383366.4 + 7 905_906 c.612_613delGA c.(610-615)ctaafs p.LK204fs NEK11_ENST00000510688.1_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000507910.1_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000510769.1_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000511262.1_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000356918.4_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000429253.2_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000412440.2_Frame_Shift_Del_p.LK56fs NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 204 Protein kinase. cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 CTGAGGCTCTGAAACACCAAGG 0.446 11 96 --- --- --- --- LNPEP 4012 broad.mit.edu 37 5 96314964 96314964 + Frame_Shift_Del DEL C C - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:96314964delC ENST00000231368.5 + 2 834 c.142delC c.(142-144)ccfs p.P48fs LNPEP_ENST00000395770.3_Frame_Shift_Del_p.P34fs NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase 48 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) GGAATATGAGCCCCGGGGTTC 0.498 18 69 --- --- --- --- PCDHGB3 56102 broad.mit.edu 37 5 140751138 140751138 + Frame_Shift_Del DEL A A - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr5:140751138delA ENST00000576222.1 + 1 1308 c.1177delA c.(1177-1179)aafs p.K393fs PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCCCCTTTAAAATCGTTCA 0.458 10 38 --- --- --- --- AMPH 273 broad.mit.edu 37 7 38433710 38433710 + Frame_Shift_Del DEL G G - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:38433710delG ENST00000356264.2 - 18 1718 c.1503delC c.(1501-1503)gcfs p.A501fs AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000325590.5_Frame_Shift_Del_p.A459fs|AMPH_ENST00000428293.2_Frame_Shift_Del_p.A459fs NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 501 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 CTCCTTCCCCGGCAGGGACAG 0.577 42 109 --- --- --- --- GRM8 2918 broad.mit.edu 37 7 126882938 126882938 + Frame_Shift_Del DEL A A - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr7:126882938delA ENST00000339582.2 - 2 1129 c.321delT c.(319-321)tcfs p.S107fs GRM8_ENST00000358373.3_Frame_Shift_Del_p.S107fs|GRM8_ENST00000444921.2_Frame_Shift_Del_p.S107fs|GRM8_ENST00000405249.1_Frame_Shift_Del_p.S107fs O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 107 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AGGTGTCCCTAGAGCACGTGT 0.478 HNSCC(24;0.065) 24 60 --- --- --- --- LRRCC1 85444 broad.mit.edu 37 8 86021877 86021878 + Frame_Shift_Ins INS - - T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr8:86021877_86021878insT ENST00000414626.2 + 1 981_982 c.92_93insT c.(91-93)ctgfs p.L31fs LRRCC1_ENST00000360375.3_Frame_Shift_Ins_p.L51fs Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 51 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 GTCAATCTTCATTGCAATAACA 0.282 13 24 --- --- --- --- ITPRIP 85450 broad.mit.edu 37 10 106075158 106075159 + Frame_Shift_Ins INS - - G rs3802671 by1000genomes TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr10:106075158_106075159insG ENST00000278071.2 - 3 1103_1104 c.651_652insC c.(649-654)ccagccfs p.A218fs ITPRIP_ENST00000337478.1_Frame_Shift_Ins_p.A218fs|ITPRIP_ENST00000358187.2_Frame_Shift_Ins_p.A218fs NM_033397.2 NP_203755.1 Q8IWB1 IPRI_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein 218 plasma membrane breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 CGGTAGGGCTCGGGGGGTGTGA 0.644 8 33 --- --- --- --- SF1 7536 broad.mit.edu 37 11 64536718 64536718 + Frame_Shift_Del DEL C C - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr11:64536718delC ENST00000377390.3 - 7 1093 c.756delG c.(754-756)ggfs p.G252fs SF1_ENST00000433274.2_Frame_Shift_Del_p.G226fs|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000422298.2_Frame_Shift_Del_p.G137fs|SF1_ENST00000377387.1_Frame_Shift_Del_p.G377fs|SF1_ENST00000377394.3_Frame_Shift_Del_p.G252fs|SF1_ENST00000334944.5_Frame_Shift_Del_p.G252fs|SF1_ENST00000227503.9_Frame_Shift_Del_p.G252fs NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 252 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 CCCGAAGGGTCCCATTTAAGC 0.463 47 86 --- --- --- --- KIF5A 3798 broad.mit.edu 37 12 57970143 57970143 + Frame_Shift_Del DEL C C - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr12:57970143delC ENST00000455537.2 + 19 2454 c.2180delC c.(2179-2181)acfs p.T727fs KIF5A_ENST00000286452.5_Frame_Shift_Del_p.T638fs NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 727 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 AAGCAGAAGACCATTGATGAG 0.597 16 26 --- --- --- --- AQP9 366 broad.mit.edu 37 15 58476198 58476199 + Frame_Shift_Ins INS - - T TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr15:58476198_58476199insT ENST00000219919.4 + 6 1122_1123 c.752_753insT c.(751-753)cttfs p.L251fs AQP9_ENST00000536493.1_Frame_Shift_Ins_p.L251fs|AQP9_ENST00000558772.1_Frame_Shift_Ins_p.L186fs|ALDH1A2_ENST00000558231.1_Intron NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 251 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) GTAGTGGGCCCTTTGGTTGGTG 0.441 38 160 --- --- --- --- CCDC78 124093 broad.mit.edu 37 16 773872 773872 + Frame_Shift_Del DEL C C - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr16:773872delC ENST00000293889.6 - 11 1223 c.1118delG c.(1117-1119)gafs p.G373fs NM_001031737.2 NP_001026907.2 A2IDD5 CCD78_HUMAN coiled-coil domain containing 78 373 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3) 9 Hepatocellular(780;0.0218) CTCTGATGTTCCCCCCTGGGA 0.642 4 6 --- --- --- --- DNAH9 1770 broad.mit.edu 37 17 11515094 11515094 + Frame_Shift_Del DEL G G - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr17:11515094delG ENST00000262442.3 + 4 969 c.901delG c.(901-903)cafs p.A302fs DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000579828.1_Frame_Shift_Del_p.A301fs|DNAH9_ENST00000454412.2_Frame_Shift_Del_p.A302fs NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 302 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGATGTTGTTGCAGGTGAGGA 0.463 32 31 --- --- --- --- KRT16P4 339244 broad.mit.edu 37 17 18366522 18366523 + RNA DEL GG GG - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr17:18366522_18366523delGG ENST00000580052.1 + 0 172 CAACCCTACTGGGAGGGGCGGG 0.500 6 10 --- --- --- --- MX2 4600 broad.mit.edu 37 21 42775222 42775222 + Frame_Shift_Del DEL G G - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chr21:42775222delG ENST00000330714.3 + 12 1786 c.1602delG c.(1600-1602)gtfs p.V534fs NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 534 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) TCATTAACGTGGCCAAAAAAC 0.383 10 36 --- --- --- --- MAGEB1 4112 broad.mit.edu 37 X 30269243 30269243 + Frame_Shift_Del DEL G G - TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d19ad71-e908-4847-8b5f-c76c63216b53 1d6d5b95-d173-4726-aa7b-a8ce975a7b2d g.chrX:30269243delG ENST00000378981.3 + 4 954 c.633delG c.(631-633)aafs p.K211fs MAGEB1_ENST00000397548.2_Frame_Shift_Del_p.K211fs|MAGEB1_ENST00000397550.1_Frame_Shift_Del_p.K211fs NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 211 MAGE. NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 TCTTCTTAAAGGGCAACTCTG 0.478 16 6 --- --- --- ---