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 SV2C 22987 broad.mit.edu 37 5 75427843 75427843 + Missense_Mutation SNP G G C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr5:75427843G>C ENST00000502798.2 + 2 710 c.268G>C c.(268-270)Gag>Cag p.E90Q SV2C_ENST00000322285.7_Missense_Mutation_p.E90Q NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 90 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.E90K(1) NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TGAGATCTATGAGGGGGAGTA 0.552000 9 16 0 0 0.000274275 0 0 WSB2 55884 broad.mit.edu 37 12 118472108 118472108 + Nonsense_Mutation SNP T T A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr12:118472108T>A ENST00000315436.3 - 9 1249 c.1108A>T c.(1108-1110)Aag>Tag p.K370* WSB2_ENST00000544233.1_Nonsense_Mutation_p.K160*|WSB2_ENST00000441406.2_Nonsense_Mutation_p.K387*|WSB2_ENST00000542304.1_Nonsense_Mutation_p.K145*|WSB2_ENST00000535496.1_Nonsense_Mutation_p.K372* NM_001278557.1|NM_018639.3 NP_001265486.1|NP_061109.1 Q9NYS7 WSB2_HUMAN WD repeat and SOCS box containing 2 370 SOCS box. intracellular signal transduction breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CATAAGTGCTTCAGTGAGGAC 0.478000 20 73 0 0 0.00121646 0 0 ZNF432 9668 broad.mit.edu 37 19 52538162 52538162 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr19:52538162C>G ENST00000594154.1 - 5 982 c.770G>C c.(769-771)aGa>aCa p.R257T ZNF432_ENST00000221315.5_Missense_Mutation_p.R257T O94892 ZN432_HUMAN zinc finger protein 432 257 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) AGATTTCTCTCTTTTATGAAT 0.378000 42 82 0 0 0.000509022 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140768963 140768963 + Silent SNP C C A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr5:140768963C>A ENST00000519479.1 + 1 1512 c.1512C>A c.(1510-1512)tcC>tcA p.S504S PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTACGTGTCCATAAGCGCGG 0.647000 4 62 0.000602214 0.00426227 0.000602214 1 0 CDC42BPB 9578 broad.mit.edu 37 14 103438301 103438301 + Silent SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr14:103438301G>A ENST00000361246.2 - 13 2127 c.1839C>T c.(1837-1839)gaC>gaT p.D613D NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 613 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) GCCGCATGGCGTCCACCTTCT 0.572000 21 66 0 0 0.00121646 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49965915 49965915 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr19:49965915G>A ENST00000293350.4 + 8 1164 c.1001G>A c.(1000-1002)cGa>cAa p.R334Q ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R283Q|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R171Q|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R169Q NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 334 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) CGGAGTGGCCGAGGGCTGGAT 0.672000 14 64 0 0 0.000151284 0 0 CANX 821 broad.mit.edu 37 5 179137026 179137026 + Missense_Mutation SNP G G C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr5:179137026G>C ENST00000247461.4 + 7 881 c.681G>C c.(679-681)aaG>aaC p.K227N CANX_ENST00000415618.2_Missense_Mutation_p.K262N|CANX_ENST00000503126.1_3'UTR|CANX_ENST00000504734.1_Missense_Mutation_p.K227N|CANX_ENST00000512607.2_Missense_Mutation_p.K119N|CANX_ENST00000452673.2_Missense_Mutation_p.K227N NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 227 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGATCTGAAGACCTATTTTA 0.358000 15 72 0 0 0.000422831 0 0 EIF3L 51386 broad.mit.edu 37 22 38259032 38259032 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr22:38259032C>T ENST00000412331.2 + 6 1074 c.492C>T c.(490-492)ttC>ttT p.F164F EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Silent_p.F66F|EIF3L_ENST00000381683.6_Intron NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 164 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GCAATCTCTTCAACTACATTC 0.368000 119 44 0 0 0.000781405 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102514236 102514236 + Silent SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr14:102514236G>A ENST00000360184.4 + 73 13253 c.13089G>A c.(13087-13089)aaG>aaA p.K4363K RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 4363 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CTGAGAAGAAGACGAGGACAG 0.602000 11 37 0 0 0.000673444 0 0 BPTF 2186 broad.mit.edu 37 17 65850547 65850547 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr17:65850547G>A ENST00000321892.4 + 2 1166 c.1105G>A c.(1105-1107)Gat>Aat p.D369N BPTF_ENST00000335221.5_Missense_Mutation_p.D369N|BPTF_ENST00000424123.3_Missense_Mutation_p.D230N|BPTF_ENST00000306378.6_Missense_Mutation_p.D369N Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 369 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GTTTCTAGTCGATCAGTTTCT 0.418000 36 166 0 0 0.000692331 0 0 FTSJ3 117246 broad.mit.edu 37 17 61902286 61902286 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr17:61902286C>T ENST00000427159.2 - 9 1360 c.715G>A c.(715-717)Gaa>Aaa p.E239K NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 239 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCATAGCCTTCAGCCTTAGGA 0.557000 6 29 0 0 0.00116845 0 0 MIXL1 83881 broad.mit.edu 37 1 226413494 226413494 + Missense_Mutation SNP C C A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:226413494C>A ENST00000366810.5 + 2 744 c.680C>A c.(679-681)tCt>tAt p.S227Y MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Missense_Mutation_p.S235Y Q9H2W2 MIXL1_HUMAN Mix paired-like homeobox 227 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.109) CACATCTTTTCTGCCTTTGGT 0.473000 28 122 9.39395e-14 7.17088e-13 0.00106085 1 0 TULP2 7288 broad.mit.edu 37 19 49391423 49391423 + Silent SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr19:49391423G>A ENST00000221399.3 - 8 876 c.732C>T c.(730-732)ggC>ggT p.G244G NM_003323.2 NP_003314.2 O00295 TULP2_HUMAN tubby like protein 2 244 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) TGCCACCCTCGCCTTTCAGGG 0.587000 13 59 0 0 0.000308642 0 0 BAG5 9529 broad.mit.edu 37 14 104027432 104027432 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr14:104027432C>G ENST00000445922.2 - 2 316 c.70G>C c.(70-72)Gaa>Caa p.E24Q RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000337322.4_Missense_Mutation_p.E65Q|BAG5_ENST00000299204.4_Missense_Mutation_p.E24Q NM_004873.3 NP_004864.1 Q9UL15 BAG5_HUMAN BCL2-associated athanogene 5 24 BAG 1. apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly inclusion body|perinuclear region of cytoplasm chaperone binding|ubiquitin protein ligase binding endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 24 Melanoma(154;0.155) Epithelial(46;0.144) ACTTGCTGTTCTACACTTTTT 0.373000 27 36 0 0 0.00106085 0 0 VAV2 7410 broad.mit.edu 37 9 136633664 136633664 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr9:136633664C>T ENST00000371851.1 - 27 2784 c.2459G>A c.(2458-2460)cGa>cAa p.R820Q VAV2_ENST00000371850.3_Missense_Mutation_p.R830Q|VAV2_ENST00000406606.3_Missense_Mutation_p.R791Q P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 830 SH3 2. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) CCTCATATCTCGGGCGGCAAA 0.632000 20 27 0 0 0.000958276 0 0 UGT1A6 54578 broad.mit.edu 37 2 234680956 234680956 + Silent SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr2:234680956G>A ENST00000305139.6 + 5 1489 c.1350G>A c.(1348-1350)ccG>ccA p.P450P UGT1A1_ENST00000608381.1_Silent_p.P452P|UGT1A4_ENST00000373409.3_Silent_p.P452P|UGT1A9_ENST00000354728.4_Silent_p.P448P|UGT1A1_ENST00000609637.1_Silent_p.P448P|UGT1A10_ENST00000344644.5_Silent_p.P448P|UGT1A1_ENST00000373450.4_Silent_p.P448P|UGT1A1_ENST00000608383.1_Silent_p.P451P|UGT1A6_ENST00000373424.1_Silent_p.P183P|UGT1A8_ENST00000305208.5_Silent_p.P451P|UGT1A5_ENST00000373414.3_Silent_p.P452P|UGT1A1_ENST00000609767.1_Silent_p.P452P|UGT1A7_ENST00000373426.3_Silent_p.P448P|UGT1A3_ENST00000482026.1_Silent_p.P452P NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) AGGACCGCCCGGTGGAGCCGC 0.582000 11 55 0 0 0.000978159 0 0 CCDC40 55036 broad.mit.edu 37 17 78059903 78059903 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr17:78059903C>T ENST00000397545.4 + 14 2364 c.2337C>T c.(2335-2337)cgC>cgT p.R779R CCDC40_ENST00000374877.3_Silent_p.R779R NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 779 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CCTGGCTGCGCCTGCAGCAGG 0.602000 11 45 0 0 0.000978159 0 0 BTN3A1 11119 broad.mit.edu 37 6 26409783 26409783 + Silent SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr6:26409783G>A ENST00000289361.6 + 5 1106 c.738G>A c.(736-738)caG>caA p.Q246Q BTN3A1_ENST00000425234.2_Silent_p.Q246Q|BTN3A1_ENST00000476549.2_Silent_p.Q246Q|BTN3A1_ENST00000414912.2_Silent_p.Q194Q NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 246 lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 GGAGCGCCCAGAGGTGGATCG 0.627000 27 52 0 0 0.00127121 0 0 ALG14 199857 broad.mit.edu 37 1 95492794 95492794 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:95492794C>T ENST00000370205.5 - 3 357 c.311G>A c.(310-312)cGa>cAa p.R104Q NM_144988.3 NP_659425.1 Q96F25 ALG14_HUMAN ALG14, UDP-N-acetylglucosaminyltransferase subunit dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|large_intestine(1)|lung(2)|pancreas(1) 6 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.0615)|Epithelial(280;0.139) TCTTGGAATTCGGTGAATGTA 0.443000 7 39 0 0 0.000157383 0 0 SNRPA 6626 broad.mit.edu 37 19 41268831 41268831 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr19:41268831C>T ENST00000243563.3 + 4 1002 c.452C>T c.(451-453)cCc>cTc p.P151L NM_004596.4 NP_004587.1 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 151 Pro-rich. nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) ACTCAGGCGCCCCGCATTATG 0.657000 5 28 0 0 0.000602214 0 0 DLGAP1 9229 broad.mit.edu 37 18 3879204 3879204 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr18:3879204G>A ENST00000315677.3 - 4 1460 c.865C>T c.(865-867)Cgg>Tgg p.R289W DLGAP1_ENST00000584874.1_Missense_Mutation_p.R289W|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R289W|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R289W NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 289 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) TAAACCTCCCGGGCCCGGCTC 0.632000 37 50 0 0 0.000692331 0 0 AATF 26574 broad.mit.edu 37 17 35376310 35376310 + Nonsense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr17:35376310C>T ENST00000225402.5 + 9 1656 c.1405C>T c.(1405-1407)Cga>Tga p.R469* NM_012138.3 NP_036270.1 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor 469 RB1 and SP1 binding. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2) 18 Breast(25;0.00607) CTAGCTCCTTCGAGAACTCAT 0.438000 12 53 0 0 0.00136819 0 0 FGGY 55277 broad.mit.edu 37 1 60125954 60125954 + Missense_Mutation SNP C C G rs76295402 TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:60125954C>G ENST00000371218.4 + 13 1541 c.1357C>G c.(1357-1359)Caa>Gaa p.Q453E FGGY_ENST00000371212.1_Missense_Mutation_p.Q341E|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371210.1_Missense_Mutation_p.Q130E|FGGY_ENST00000303721.7_Missense_Mutation_p.Q429E NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 429 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) GGCCACAGTTCAAGCCATTGC 0.453000 9 32 0 0 0.000274275 0 0 ARID1A 8289 broad.mit.edu 37 1 27099321 27099321 + Silent SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:27099321G>A ENST00000324856.7 + 14 3929 c.3558G>A c.(3556-3558)ggG>ggA p.G1186G ARID1A_ENST00000457599.2_Silent_p.G1186G|ARID1A_ENST00000374152.2_Silent_p.G803G NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1186 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ATTCAGTTGGGATCCAGGATG 0.463000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 7 9 0 0 8.12818e-05 0 0 ZNF827 152485 broad.mit.edu 37 4 146824297 146824297 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr4:146824297C>G ENST00000508784.1 - 2 341 c.114G>C c.(112-114)gaG>gaC p.E38D ZNF827_ENST00000379448.4_Missense_Mutation_p.E38D|ZNF827_ENST00000513320.1_Intron Q17R98 ZN827_HUMAN zinc finger protein 827 38 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) CTGACGGAGTCTCTGAAGAGT 0.522000 19 46 0 0 0.00074312 0 0 LRCH4 4034 broad.mit.edu 37 7 100175355 100175355 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr7:100175355C>G ENST00000310300.6 - 9 1100 c.1048G>C c.(1048-1050)Gac>Cac p.D350H LRCH4_ENST00000497245.1_5'UTR NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 350 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGCACAGGGTCTCCGTCCGCT 0.652000 17 69 0 0 0.000566183 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6064064 6064064 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr4:6064064G>A ENST00000409021.3 - 10 1984 c.1535C>T c.(1534-1536)aCg>aTg p.T512M JAKMIP1_ENST00000409831.1_Missense_Mutation_p.T512M|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.T347M|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.T327M|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.T512M NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 512 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding p.T512M(1) NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGCGTCCAGCGTGCCTCCCAC 0.677000 20 58 0 0 0.000229342 0 0 COL14A1 7373 broad.mit.edu 37 8 121309768 121309768 + Missense_Mutation SNP G G C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr8:121309768G>C ENST00000297848.3 + 35 4525 c.4255G>C c.(4255-4257)Gat>Cat p.D1419H COL14A1_ENST00000247781.3_Missense_Mutation_p.D1324H|COL14A1_ENST00000309791.4_Missense_Mutation_p.D1419H NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1419 Nonhelical region (NC4).|TSP N-terminal. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) ACAGATGTTTGATATTGTTTG 0.264000 7 26 0 0 0.000274275 0 0 RAB40AL 282808 broad.mit.edu 37 X 102192352 102192352 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chrX:102192352G>A ENST00000218249.5 + 1 153 c.106G>A c.(106-108)Gac>Aac p.D36N NM_001031834.1 NP_001027004.1 P0C0E4 RB40L_HUMAN RAB40A, member RAS oncogene family-like 36 protein transport|small GTPase mediated signal transduction mitochondrion|plasma membrane GTP binding endometrium(4)|large_intestine(2)|lung(3)|ovary(3) 12 GAGCCTGCAGGACGGCACGGC 0.652000 26 38 0 0 0.000586117 0 0 LYVE1 10894 broad.mit.edu 37 11 10580771 10580771 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr11:10580771C>G ENST00000256178.3 - 6 1014 c.856G>C c.(856-858)Gag>Cag p.E286Q MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000529598.1_Missense_Mutation_p.E182Q|MRVI1-AS1_ENST00000529979.1_RNA NM_006691.3 NP_006682.2 Q9Y5Y7 LYVE1_HUMAN lymphatic vessel endothelial hyaluronan receptor 1 286 anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport integral to plasma membrane|membrane fraction central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609) TTGGCCTTCTCCTCCTTTACT 0.408000 23 59 0 0 0.000229342 0 0 ADCK4 79934 broad.mit.edu 37 19 41215975 41215975 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr19:41215975C>T ENST00000324464.3 - 5 657 c.356G>A c.(355-357)cGt>cAt p.R119H ADCK4_ENST00000450541.1_Missense_Mutation_p.R119H|ADCK4_ENST00000243583.6_Missense_Mutation_p.R119H NM_024876.3 NP_079152.3 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 119 integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) TGACTGCAGACGACCTCCTGG 0.572000 12 32 0 0 0.000978159 0 0 PTPN13 5783 broad.mit.edu 37 4 87689034 87689034 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr4:87689034C>T ENST00000436978.1 + 28 4889 c.4409C>T c.(4408-4410)cCa>cTa p.P1470L PTPN13_ENST00000316707.6_Missense_Mutation_p.P1274L|PTPN13_ENST00000511467.1_Missense_Mutation_p.P1470L|PTPN13_ENST00000427191.2_Missense_Mutation_p.P1446L|PTPN13_ENST00000411767.2_Missense_Mutation_p.P1465L 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) 1465 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) CCGGTAACCCCACAGTGTACC 0.408000 3 4 0 0 6.4e-05 0 0 PET112 5188 broad.mit.edu 37 4 152624955 152624955 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr4:152624955G>A ENST00000512306.1 - 8 1057 c.1055C>T c.(1054-1056)gCg>gTg p.A352V PET112_ENST00000263985.6_Intron|PET112_ENST00000515812.1_Intron O75879 GATB_HUMAN PET112 homolog (yeast) 0 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTTGAAATACGCCCCAGCCCC 0.393000 18 28 0 0 0.000958276 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 23003287 23003287 + Silent SNP A A G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr8:23003287A>G ENST00000312584.3 - 5 724 c.630T>C c.(628-630)taT>taC p.Y210Y NM_003840.4 NP_003831.2 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 210 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) TAAGGTAGTGATAGGGAGAGG 0.458000 22 29 0 0 0.000295444 0 0 ACOT7 11332 broad.mit.edu 37 1 6393576 6393576 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:6393576C>T ENST00000361521.4 - 4 1462 c.471G>A c.(469-471)ctG>ctA p.L157L ACOT7_ENST00000377855.2_Silent_p.L167L|ACOT7_ENST00000541130.1_Silent_p.L137L|ACOT7_ENST00000377845.3_Silent_p.L137L|ACOT7_ENST00000377842.3_Silent_p.L116L|ACOT7_ENST00000545482.1_Silent_p.L52L|ACOT7_ENST00000608083.1_Silent_p.L125L NM_007274.3 NP_009205.3 O00154 BACH_HUMAN acyl-CoA thioesterase 7 167 mitochondrion|nucleus carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1) 16 Ovarian(185;0.0634)|all_lung(157;0.175) all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481) CCACATTCTTCAGCGACAGGG 0.542000 9 44 0 0 0.000673444 0 0 MDN1 23195 broad.mit.edu 37 6 90368362 90368362 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr6:90368362C>T ENST00000369393.3 - 89 15103 c.14988G>A c.(14986-14988)gaG>gaA p.E4996E MDN1_ENST00000428876.1_Silent_p.E4996E Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4996 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CAGGGCCATTCTCTCCACCTT 0.478000 27 70 0 0 0.000878237 0 0 FUS 2521 broad.mit.edu 37 16 31195709 31195709 + Missense_Mutation SNP G G C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr16:31195709G>C ENST00000254108.7 + 5 620 c.515G>C c.(514-516)gGa>gCa p.G172A FUS_ENST00000568685.1_Missense_Mutation_p.G172A|FUS_ENST00000380244.3_Missense_Mutation_p.G171A NM_001170634.1|NM_001170937.1|NM_004960.3 NP_001164105.1|NP_001164408.1|NP_004951.1 P35637 FUS_HUMAN fused in sarcoma 172 Gly-rich. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158) breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1) 22 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) ggtggaggtggaggtggaggt 0.483000 T """DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1""" """liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma""" 9 40 0 0 0.000274275 0 0 MROH9 80133 broad.mit.edu 37 1 170967299 170967299 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:170967299C>G ENST00000367759.4 + 15 1634 c.1480C>G c.(1480-1482)Ctc>Gtc p.L494V MROH9_ENST00000367758.3_Missense_Mutation_p.L494V NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 TTACAGAACTCTCAGTGAATA 0.398000 11 89 0 0 0.00136819 0 0 DUSP28 285193 broad.mit.edu 37 2 241500749 241500749 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr2:241500749G>A ENST00000405954.1 + 2 779 c.396G>A c.(394-396)atG>atA p.M132I DUSP28_ENST00000343217.2_Missense_Mutation_p.M132I Q4G0W2 DUS28_HUMAN dual specificity phosphatase 28 132 Tyrosine-protein phosphatase. protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity lung(2)|upper_aerodigestive_tract(1) 3 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311) GTTTGCAGATGGTGAAGAGCG 0.632000 16 24 0 0 0.000308642 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 5 124 0 0 0.00116845 0 0 LOC645752 645752 broad.mit.edu 37 15 78215340 78215340 + RNA SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr15:78215340C>T ENST00000567226.1 - 0 237 ACTGCTAGTTCTTGGTACTGG 0.502000 12 73 0 0 0.00136819 0 0 LPAR3 23566 broad.mit.edu 37 1 85331465 85331465 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:85331465C>G ENST00000440886.1 - 1 377 c.339G>C c.(337-339)ttG>ttC p.L113F LPAR3_ENST00000370611.3_Missense_Mutation_p.L113F|LPAR3_ENST00000491034.1_5'UTR Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 113 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 GGGAAGCAGTCAAGCTACTGT 0.498000 63 203 0 0 0.000781405 0 0 FBXO2 26232 broad.mit.edu 37 1 11708841 11708841 + Silent SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:11708841G>A ENST00000354287.4 - 6 1142 c.801C>T c.(799-801)gtC>gtT p.V267V NM_012168.5 NP_036300.2 Q9UK22 FBX2_HUMAN F-box protein 2 267 FBA. glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex sugar binding|ubiquitin-protein ligase activity kidney(1)|large_intestine(1)|lung(4) 6 Ovarian(185;0.249) Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649) GCTCGAAGCGGACGAAGCGGA 0.672000 15 112 0 0 0.00152264 0 0 CLTA 1211 broad.mit.edu 37 9 36209262 36209262 + Splice_Site SNP A A G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr9:36209262A>G ENST00000433436.2 + 5 686 c.e5-1 CLTA_ENST00000466396.1_Splice_Site|CLTA_ENST00000242285.6_Splice_Site|CLTA_ENST00000540080.1_Intron|CLTA_ENST00000538225.1_Intron|CLTA_ENST00000470744.1_Intron|CLTA_ENST00000396603.2_Splice_Site|CLTA_ENST00000345519.5_Intron NM_007096.3 NP_009027.1 P09496 CLCA_HUMAN clathrin, light chain A axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol structural molecule activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1) 6 STAD - Stomach adenocarcinoma(86;0.228) CTTGCTGTCTAGGGTGGCAGA 0.413000 7 27 0 0 0.000274275 0 0 OR4M1 441670 broad.mit.edu 37 14 20248638 20248638 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr14:20248638C>T ENST00000315957.4 + 1 238 c.157C>T c.(157-159)Cct>Tct p.P53S NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CAGGCTAGACCCTCATCTGAC 0.413000 84 481 0 0 0.000781405 0 0 FTSJ3 117246 broad.mit.edu 37 17 61901258 61901258 + Silent SNP C C T rs141059832 TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr17:61901258C>T ENST00000427159.2 - 13 1854 c.1209G>A c.(1207-1209)ctG>ctA p.L403L NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 403 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GATCCATCTTCAGCTCCACAC 0.577000 12 86 0 0 0.000978159 0 0 TTLL3 26140 broad.mit.edu 37 3 9854767 9854767 + Translation_Start_Site SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr3:9854767G>A ENST00000397241.1 + 0 405 ARPC4-TTLL3_ENST00000397256.1_Silent_p.A157A|TTLL3_ENST00000547186.1_Silent_p.A63A|RP11-266J6.2_ENST00000602768.1_RNA|TTLL3_ENST00000426895.4_Silent_p.A206A Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) ATAGCTCAGCGATGGGTGACA 0.587000 10 25 0 0 0.000673444 0 0 ARNT 405 broad.mit.edu 37 1 150818775 150818775 + Missense_Mutation SNP T T C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:150818775T>C ENST00000358595.5 - 4 391 c.191A>G c.(190-192)gAt>gGt p.D64G ARNT_ENST00000354396.2_Missense_Mutation_p.D64G|ARNT_ENST00000515192.1_Missense_Mutation_p.D55G|ARNT_ENST00000505755.1_Missense_Mutation_p.D64G NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 64 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) CATCTGATCATCATCACACCT 0.333000 T ETV6 AML 15 36 0 0 0.000566183 0 0 RANBP2 5903 broad.mit.edu 37 2 109371692 109371692 + Missense_Mutation SNP T T C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr2:109371692T>C ENST00000283195.6 + 17 2569 c.2443T>C c.(2443-2445)Tgc>Cgc p.C815R NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 815 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GAAAATGATTTGCCAACAAGT 0.348000 4 153 0 0 0.00024832 0 0 GBF1 8729 broad.mit.edu 37 10 104119115 104119115 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr10:104119115C>T ENST00000369983.3 + 11 1360 c.1100C>T c.(1099-1101)tCt>tTt p.S367F GBF1_ENST00000476019.1_3'UTR NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 367 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) GCCGACCACTCTGACTCTGCC 0.557000 13 30 0 0 0.000151284 0 0 CTNND1 1500 broad.mit.edu 37 11 57575682 57575682 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr11:57575682C>T ENST00000524630.1 + 12 2504 c.1991C>T c.(1990-1992)tCa>tTa p.S664L CTNND1_ENST00000529873.1_Missense_Mutation_p.S610L|CTNND1_ENST00000533667.1_Missense_Mutation_p.S341L|CTNND1_ENST00000361796.4_Missense_Mutation_p.S664L|CTNND1_ENST00000529919.1_Missense_Mutation_p.S670L|CTNND1_ENST00000532844.1_Missense_Mutation_p.S616L|CTNND1_ENST00000361391.6_Missense_Mutation_p.S664L|CTNND1_ENST00000532463.1_Missense_Mutation_p.S563L|CTNND1_ENST00000526772.1_Missense_Mutation_p.S341L|CTNND1_ENST00000530094.1_Missense_Mutation_p.S563L|CTNND1_ENST00000428599.2_Missense_Mutation_p.S664L|CTNND1_ENST00000415361.2_Missense_Mutation_p.S569L|CTNND1_ENST00000526357.1_Missense_Mutation_p.S610L|CTNND1_ENST00000358694.6_Missense_Mutation_p.S664L|CTNND1_ENST00000532649.1_Missense_Mutation_p.S610L|CTNND1_ENST00000525902.1_Missense_Mutation_p.S347L|CTNND1_ENST00000529526.1_Missense_Mutation_p.S610L|CTNND1_ENST00000532787.1_Missense_Mutation_p.S563L|CTNND1_ENST00000534579.1_Missense_Mutation_p.S610L|CTNND1_ENST00000399050.4_Missense_Mutation_p.S670L|CTNND1_ENST00000360682.6_Missense_Mutation_p.S670L|CTNND1_ENST00000532245.1_Missense_Mutation_p.S563L|CTNND1_ENST00000526938.1_Missense_Mutation_p.S670L|CTNND1_ENST00000530748.1_Missense_Mutation_p.S616L|CTNND1_ENST00000529986.1_Missense_Mutation_p.S563L|CTNND1_ENST00000399039.4_Missense_Mutation_p.S670L|CTNND1_ENST00000528232.1_Missense_Mutation_p.S569L|CTNND1_ENST00000361332.4_Missense_Mutation_p.S664L|CTNND1_ENST00000527467.1_Missense_Mutation_p.S347L|CTNND1_ENST00000531014.1_Missense_Mutation_p.S341L|CTNND1_ENST00000426142.2_Missense_Mutation_p.S563L|CTNND1_ENST00000528621.1_Missense_Mutation_p.S610L O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 670 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) ATATACATCTCACTTCTTAAG 0.483000 7 44 0 0 8.12818e-05 0 0 PPARG 5468 broad.mit.edu 37 3 12434122 12434122 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr3:12434122C>T ENST00000397026.2 + 6 807 c.424C>T c.(424-426)Cgg>Tgg p.R142W PPARG_ENST00000309576.6_Missense_Mutation_p.R136W|PPARG_ENST00000397012.2_Missense_Mutation_p.R136W|PPARG_ENST00000397015.2_Missense_Mutation_p.R136W|PPARG_ENST00000539812.1_Missense_Mutation_p.R134W|PPARG_ENST00000397000.1_Missense_Mutation_p.R136W|PPARG_ENST00000397010.2_Missense_Mutation_p.R136W|PPARG_ENST00000287820.6_Missense_Mutation_p.R164W P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 164 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) GGGTTTCTTCCGGAGAACAAT 0.388000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 9 38 0 0 0.000978159 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626903 108626903 + Silent SNP C C A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr2:108626903C>A ENST00000264047.2 + 9 1605 c.1329C>A c.(1327-1329)ctC>ctA p.L443L SLC5A7_ENST00000540517.1_Silent_p.L338L|SLC5A7_ENST00000409059.1_Silent_p.L443L NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 443 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TTTCTGGCCTCTTCCTGAGAA 0.448000 19 46 1.33834e-09 1.00582e-08 0.000958276 1 0 RMND1 55005 broad.mit.edu 37 6 151757629 151757629 + Nonsense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr6:151757629G>A ENST00000367303.4 - 3 687 c.565C>T c.(565-567)Caa>Taa p.Q189* RMND1_ENST00000336451.3_5'UTR|RMND1_ENST00000491268.1_5'UTR NM_017909.2 NP_060379.2 Q9NWS8 RMND1_HUMAN required for meiotic nuclear division 1 homolog (S. cerevisiae) 189 central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.146) OV - Ovarian serous cystadenocarcinoma(155;6.8e-11) GCCAGATCTTGAGACAGATTT 0.443000 17 44 0 0 0.000566183 0 0 PCLO 27445 broad.mit.edu 37 7 82784516 82784516 + Missense_Mutation SNP G G C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr7:82784516G>C ENST00000333891.9 - 2 1778 c.1441C>G c.(1441-1443)Cct>Gct p.P481A PCLO_ENST00000423517.2_Missense_Mutation_p.P481A NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTGTTGAGGTGGGGGCTTT 0.597000 17 51 0 0 0.00121646 0 0 RGS18 64407 broad.mit.edu 37 1 192153520 192153520 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:192153520C>G ENST00000367460.3 + 5 725 c.544C>G c.(544-546)Cag>Gag p.Q182E NM_130782.2 NP_570138.1 Q9NS28 RGS18_HUMAN regulator of G-protein signaling 18 182 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CAGAGTGTATCAGCTCATGGA 0.403000 9 75 0 0 0.000274275 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65713200 65713200 + RNA SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr11:65713200G>A ENST00000608857.1 + 0 54 TSGA10IP_ENST00000532620.1_RNA NM_152762.2 NP_689975.2 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein endometrium(2)|kidney(3)|lung(9) 14 TTAGGACCCCGTCGGTGTGAC 0.612000 12 34 0 0 0.00136819 0 0 PCDH12 51294 broad.mit.edu 37 5 141336347 141336347 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr5:141336347G>A ENST00000231484.3 - 1 2280 c.1070C>T c.(1069-1071)gCc>gTc p.A357V NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 357 Cadherin 4. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCTGGGAGGCCCATGTGAC 0.507000 18 44 0 0 0.00121646 0 0 KIAA1456 57604 broad.mit.edu 37 8 12879451 12879451 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr8:12879451C>T ENST00000524591.2 + 5 1752 c.1263C>T c.(1261-1263)tgC>tgT p.C421C KIAA1456_ENST00000447063.2_Intron NM_001099677.1|NM_020844.2 NP_001093147.1|NP_065895.2 Q9P272 K1456_HUMAN KIAA1456 421 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 GGGAGCTCTGCAGTCTGCTCA 0.463000 6 8 0 0 8.12818e-05 0 0 ADCY6 112 broad.mit.edu 37 12 49165690 49165690 + Missense_Mutation SNP G G C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr12:49165690G>C ENST00000307885.4 - 18 3548 c.2854C>G c.(2854-2856)Ctg>Gtg p.L952V ADCY6_ENST00000550422.1_Missense_Mutation_p.L899V|ADCY6_ENST00000357869.3_Missense_Mutation_p.L899V NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 952 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 ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 TCCTTGGGCAGAATGTTATGC 0.577000 8 39 0 0 0.000157383 0 0 CLEC5A 23601 broad.mit.edu 37 7 141643715 141643715 + Silent SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr7:141643715G>A ENST00000546910.1 - 4 385 c.189C>T c.(187-189)acC>acT p.T63T CLEC5A_ENST00000551012.2_Intron|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000438351.1_Intron NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 63 anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) AGCTCCTTGTGGTAATGAAGC 0.418000 20 81 0 0 0.000229342 0 0 CA1 759 broad.mit.edu 37 8 86250639 86250639 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr8:86250639C>G ENST00000523953.1 - 4 1123 c.77G>C c.(76-78)gGa>gCa p.G26A CA1_ENST00000542576.1_Missense_Mutation_p.G26A|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000256119.5_Missense_Mutation_p.G26A|CA1_ENST00000432364.2_Missense_Mutation_p.G26A|CA1_ENST00000522389.1_Intron|CA1_ENST00000523022.1_Missense_Mutation_p.G26A|CA1_ENST00000431316.1_Missense_Mutation_p.G26A P00915 CAH1_HUMAN carbonic anhydrase I 26 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) CTGGTTATTTCCATTGGCAAT 0.418000 27 90 0 0 0.000878237 0 0 FTH1 2495 broad.mit.edu 37 11 61732365 61732365 + Splice_Site SNP T T C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr11:61732365T>C ENST00000273550.7 - 4 622 c.e4-2 FTH1_ENST00000526640.1_Splice_Site|FTH1_ENST00000532601.1_Splice_Site|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron NM_002032.2 NP_002023.2 P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) GTCACACAACTGCAAAACAAT 0.483000 52 42 0 0 0.000781405 0 0 INTS1 26173 broad.mit.edu 37 7 1521019 1521019 + Missense_Mutation SNP G G C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr7:1521019G>C ENST00000389470.4 - 29 4294 c.4295C>G c.(4294-4296)gCc>gGc p.A1432G INTS1_ENST00000404767.3_Missense_Mutation_p.A1270G Q8N201 INT1_HUMAN integrator complex subunit 1 1270 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GGGGTCGTGGGCCACTGCCTG 0.627000 6 30 0 0 0.000157383 0 0 FAM86DP 692099 broad.mit.edu 37 3 75475607 75475607 + RNA SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr3:75475607C>T ENST00000459803.1 - 0 922 NR_024241.1 TCACCTAGCTCGGTGGTGAAC 0.652000 5 62 0 0 0.000673444 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561483 11561483 + Missense_Mutation SNP C C A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:11561483C>A ENST00000294484.6 + 2 572 c.434C>A c.(433-435)tCc>tAc p.S145Y PTCHD2_ENST00000389575.3_Missense_Mutation_p.S145Y NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 145 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GACTTCACCTCCGAGACGCTT 0.657000 18 24 0.000566183 0.00402681 0.000566183 1 0 FTSJ3 117246 broad.mit.edu 37 17 61901285 61901285 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr17:61901285C>T ENST00000427159.2 - 13 1827 c.1182G>A c.(1180-1182)caG>caA p.Q394Q NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 394 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCTGCTTTCTCTGCTCACGCA 0.542000 9 76 0 0 0.000274275 0 0 DGKG 1608 broad.mit.edu 37 3 185985551 185985551 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr3:185985551C>T ENST00000265022.3 - 13 1671 c.1132G>A c.(1132-1134)Gaa>Aaa p.E378K DGKG_ENST00000544847.1_Missense_Mutation_p.E339K|DGKG_ENST00000382164.4_Missense_Mutation_p.E339K|DGKG_ENST00000344484.4_Missense_Mutation_p.E378K NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 378 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) GTTGATAATTCACATTTGCGG 0.517000 10 60 0 0 0.000978159 0 0 CAP2 10486 broad.mit.edu 37 6 17514185 17514185 + Splice_Site SNP A A C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr6:17514185A>C ENST00000229922.2 + 7 1168 c.636A>C c.(634-636)acA>acC p.T212T CAP2_ENST00000378990.2_Splice_Site_p.T186T|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000489374.1_Intron|CAP2_ENST00000465994.1_Intron NM_006366.2 NP_006357.1 P40123 CAP2_HUMAN CAP, adenylate cyclase-associated protein, 2 (yeast) 212 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) GGAGCAAAACAGTGAGTACGA 0.453000 7 103 0 0 0.000274275 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125261893 125261893 + Nonsense_Mutation SNP G G T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr2:125261893G>T ENST00000431078.1 + 8 1448 c.1084G>T c.(1084-1086)Gaa>Taa p.E362* NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 362 cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TTCCTGCTCCGAACCACAGAT 0.453000 22 28 9.86323e-18 7.60878e-17 0.000586117 1 0 PPP1R15B 84919 broad.mit.edu 37 1 204379408 204379408 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:204379408C>T ENST00000367188.4 - 1 1511 c.1132G>A c.(1132-1134)Gaa>Aaa p.E378K RP11-739N20.2_ENST00000443515.1_RNA NM_032833.3 NP_116222.3 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 378 regulation of translation breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) GGGCTCTCTTCTTCCAAAGCA 0.448000 19 69 0 0 0.00074312 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102895249 102895249 + RNA SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr7:102895249G>A ENST00000312132.4 - 0 2595 TTCCATATATGAAGAACAATC 0.328000 5 12 0 0 0.00116845 0 0 EGR2 1959 broad.mit.edu 37 10 64573588 64573588 + Silent SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr10:64573588G>A ENST00000242480.3 - 2 1135 c.810C>T c.(808-810)aaC>aaT p.N270N EGR2_ENST00000411732.1_Silent_p.N220N|EGR2_ENST00000439032.1_Silent_p.N270N NM_000399.3|NM_001136177.1 NP_000390.2|NP_001129649.1 P11161 EGR2_HUMAN early growth response 2 270 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) CCAGGGTAAAGTTACGGATTG 0.657000 7 23 0 0 0.000157383 0 0 CTSB 1508 broad.mit.edu 37 8 11705206 11705206 + Missense_Mutation SNP T T G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr8:11705206T>G ENST00000353047.6 - 7 911 c.658A>C c.(658-660)Aaa>Caa p.K220Q CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000434271.1_Missense_Mutation_p.K220Q|CTSB_ENST00000345125.3_Missense_Mutation_p.K220Q|CTSB_ENST00000531089.1_Missense_Mutation_p.K220Q|CTSB_ENST00000530640.2_Missense_Mutation_p.K220Q|CTSB_ENST00000453527.2_Missense_Mutation_p.K220Q|CTSB_ENST00000534510.1_Missense_Mutation_p.K220Q|CTSB_ENST00000533455.1_Missense_Mutation_p.K220Q NM_001908.3 NP_001899.1 P07858 CATB_HUMAN cathepsin B 220 proteolysis|regulation of apoptosis|regulation of catalytic activity lysosome|melanosome cysteine-type endopeptidase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1) 16 all_epithelial(15;0.205) STAD - Stomach adenocarcinoma(15;0.00546) COAD - Colon adenocarcinoma(149;0.184) TTGTCCTGTTTGTAGGTCGGG 0.652000 18 51 0 0 0.000229342 0 0 UAP1 6675 broad.mit.edu 37 1 162560228 162560228 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:162560228C>T ENST00000271469.3 + 8 1587 c.1285C>T c.(1285-1287)Cat>Tat p.H429Y UAP1_ENST00000367925.1_Missense_Mutation_p.H429Y|UAP1_ENST00000367924.1_Missense_Mutation_p.H429Y|UAP1_ENST00000367926.4_Missense_Mutation_p.H429Y Q16222 UAP1_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1 429 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1) 22 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) GATGTCCCTTCATCATTGCTG 0.448000 13 106 0 0 0.000219431 0 0 TRIM49C 642612 broad.mit.edu 37 11 89768595 89768595 + Missense_Mutation SNP G G T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr11:89768595G>T ENST00000448984.1 + 3 545 c.216G>T c.(214-216)aaG>aaT p.K72N TRIM49C_ENST00000432771.1_Missense_Mutation_p.K72N NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 72 intracellular zinc ion binding endometrium(3)|kidney(1)|lung(4) 8 ATTTGAAGAAGATGGCTTCTC 0.443000 5 16 1.06961e-07 7.83666e-07 0.000157383 1 0 ZFYVE28 57732 broad.mit.edu 37 4 2343228 2343228 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr4:2343228C>T ENST00000290974.2 - 3 634 c.295G>A c.(295-297)Ggc>Agc p.G99S ZFYVE28_ENST00000509171.1_Missense_Mutation_p.G52S|ZFYVE28_ENST00000503000.1_Missense_Mutation_p.G99S|ZFYVE28_ENST00000515169.1_Missense_Mutation_p.G29S|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.G29S|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.G99S NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 99 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 CACAGCTGGCCGGCCAGGTTG 0.622000 8 16 0 0 0.000157383 0 0 FTSJ3 117246 broad.mit.edu 37 17 61897624 61897624 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr17:61897624C>T ENST00000427159.2 - 19 2892 c.2247G>A c.(2245-2247)aaG>aaA p.K749K NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 749 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 CCCTCCTTTTCTTTCTAGCCT 0.552000 18 99 0 0 0.00121646 0 0 NCOA5 57727 broad.mit.edu 37 20 44693810 44693810 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr20:44693810C>G ENST00000290231.6 - 6 851 c.687G>C c.(685-687)ttG>ttC p.L229F NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 229 regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) TAAGGAAGATCAAGTCCACTA 0.483000 50 103 0 0 0.000781405 0 0 STON2 85439 broad.mit.edu 37 14 81744519 81744519 + Missense_Mutation SNP G G C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr14:81744519G>C ENST00000555447.1 - 6 1548 c.1136C>G c.(1135-1137)tCt>tGt p.S379C STON2_ENST00000267540.2_Missense_Mutation_p.S379C NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 379 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) AACAGCATCAGAGTGTGACTG 0.443000 14 36 0 0 0.000151284 0 0 DNAH7 56171 broad.mit.edu 37 2 196722243 196722243 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr2:196722243C>T ENST00000312428.6 - 44 8372 c.8272G>A c.(8272-8274)Gac>Aac p.D2758N NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2758 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GGAATATTGTCCTTGTCATAT 0.388000 16 47 0 0 0.000308642 0 0 ZC3H10 84872 broad.mit.edu 37 12 56515472 56515472 + Nonsense_Mutation SNP G G T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr12:56515472G>T ENST00000257940.2 + 3 1402 c.1126G>T c.(1126-1128)Gga>Tga p.G376* RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA NM_032786.1 NP_116175.1 Q96K80 ZC3HA_HUMAN zinc finger CCCH-type containing 10 376 Pro-rich. nucleic acid binding|zinc ion binding breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 11 OV - Ovarian serous cystadenocarcinoma(18;0.12) AATTGCCCAGGGAATGGCACC 0.602000 10 29 0.000673444 0.00474339 0.000673444 1 0 RB1CC1 9821 broad.mit.edu 37 8 53569704 53569704 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr8:53569704C>T ENST00000025008.5 - 15 3208 c.2685G>A c.(2683-2685)ttG>ttA p.L895L RB1CC1_ENST00000539297.1_Silent_p.L895L|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Silent_p.L895L NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 895 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) ACTCTCCCTTCAATTTTTTAA 0.303000 21 63 0 0 0.00152264 0 0 CDH8 1006 broad.mit.edu 37 16 61689434 61689434 + Missense_Mutation SNP G G C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr16:61689434G>C ENST00000577390.1 - 11 2800 c.1846C>G c.(1846-1848)Cca>Gca p.P616A CDH8_ENST00000577730.1_Missense_Mutation_p.P616A|CDH8_ENST00000299345.6_Missense_Mutation_p.P616A NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 616 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) AGTCCAATTGGAAGGACATAA 0.473000 16 33 0 0 0.000308642 0 0 NOTCH1 4851 broad.mit.edu 37 9 139409805 139409805 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr9:139409805C>T ENST00000277541.6 - 12 2026 c.1951G>A c.(1951-1953)Gac>Aac p.D651N NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 651 EGF-like 17; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTGCCCGAGTCGCAGGGGCTG 0.657000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 22 47 0 0 0.000720815 0 0 FSIP1 161835 broad.mit.edu 37 15 40018923 40018923 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr15:40018923G>A ENST00000350221.3 - 9 1126 c.917C>T c.(916-918)cCa>cTa p.P306L NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 306 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) TCCTTTTACTGGGACCACCCA 0.443000 9 34 0 0 0.000673444 0 0 CCDC18 343099 broad.mit.edu 37 1 93646392 93646392 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:93646392G>A ENST00000557479.1 + 1 473 c.305G>A c.(304-306)cGa>cAa p.R102Q CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000334652.5_5'UTR NM_206886.3 NP_996769.3 Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 0 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) ACTCGAGTGCGAAGCGCGCAG 0.657000 6 33 0 0 0.000157383 0 0 HSPA12B 116835 broad.mit.edu 37 20 3728896 3728896 + Silent SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr20:3728896G>A ENST00000254963.2 + 8 853 c.708G>A c.(706-708)caG>caA p.Q236Q HSPA12B_ENST00000542646.1_Silent_p.Q70Q NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 236 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 ATGCAGAGCAGCTACTCATCG 0.662000 21 107 0 0 0.000229342 0 0 PLXND1 23129 broad.mit.edu 37 3 129285420 129285420 + Nonsense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr3:129285420G>A ENST00000393239.1 - 23 4319 c.4141C>T c.(4141-4143)Cag>Tag p.Q1381* PLXND1_ENST00000324093.4_Nonsense_Mutation_p.Q1381* Q9Y4D7 PLXD1_HUMAN plexin D1 1381 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GAGCTGCCCTGGGAGTTGAGG 0.632000 8 23 0 0 0.000274275 0 0 MUC5B 727897 broad.mit.edu 37 11 1248106 1248106 + Splice_Site SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr11:1248106G>A ENST00000447027.1 + 4 519 c.461G>A c.(460-462)cGg>cAg p.R154Q MUC5B_ENST00000529681.1_Splice_Site_p.R154Q Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 154 VWFD 1. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AATGGGCAGCGGTGAGCCGGC 0.706000 7 5 0 0 8.12818e-05 0 0 SERPINA12 145264 broad.mit.edu 37 14 94962802 94962802 + Missense_Mutation SNP G G C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr14:94962802G>C ENST00000341228.2 - 4 1608 c.813C>G c.(811-813)atC>atG p.I271M SERPINA12_ENST00000556881.1_Missense_Mutation_p.I271M NM_173850.2 NP_776249.1 Q8IW75 SPA12_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 271 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) GAAGGATGAAGATGGCTGTGA 0.468000 22 89 0 0 0.000375601 0 0 GPR4 2828 broad.mit.edu 37 19 46094162 46094162 + Silent SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr19:46094162G>A ENST00000323040.4 - 2 1907 c.963C>T c.(961-963)ctC>ctT p.L321L OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 321 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) TCTCCAGGGTGAGCGAGGCAT 0.667000 8 85 0 0 0.000157383 0 0 GPR26 2849 broad.mit.edu 37 10 125447475 125447475 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr10:125447475C>T ENST00000284674.1 + 3 866 c.813C>T c.(811-813)atC>atT p.I271I NM_153442.3 NP_703143.1 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 271 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) CGGTGCCCATCGGCTCCCACT 0.597000 11 61 0 0 0.00136819 0 0 ENPP6 133121 broad.mit.edu 37 4 185045324 185045324 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr4:185045324C>T ENST00000296741.2 - 3 664 c.523G>A c.(523-525)Gac>Aac p.D175N NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 175 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) TTGAAGGAGTCAAGAGCATCG 0.443000 23 41 0 0 0.000295444 0 0 TTN 7273 broad.mit.edu 37 2 179636044 179636044 + Silent SNP A A G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr2:179636044A>G ENST00000589042.1 - 34 8234 c.8010T>C c.(8008-8010)gaT>gaC p.D2670D TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.D2670D|TTN_ENST00000460472.2_Silent_p.D2624D|TTN_ENST00000342175.6_Silent_p.D2624D|TTN_ENST00000342992.6_Silent_p.D2670D|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Silent_p.D2624D|TTN_ENST00000360870.5_Silent_p.D2670D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2406 Ig-like 15. 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) TTTTGTGGCCATCAGACTCAC 0.448000 10 30 0 0 0.000978159 0 0 RPL12P38 645688 broad.mit.edu 37 17 58511495 58511495 + RNA SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr17:58511495G>A ENST00000588627.1 - 0 1862 CCGATCTTGGGGGCCAGGGCA 0.572000 6 20 0 0 0.00116845 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1846619 1846619 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr8:1846619C>T ENST00000518288.1 + 16 1813 c.1650C>T c.(1648-1650)ccC>ccT p.P550P ARHGEF10_ENST00000349830.3_Silent_p.P526P|ARHGEF10_ENST00000520359.1_Silent_p.P488P|ARHGEF10_ENST00000398564.1_Silent_p.P551P|ARHGEF10_ENST00000262112.6_Silent_p.P551P|ARHGEF10_ENST00000398560.1_Silent_p.P512P O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 551 DH. centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) AGGCCAGCCCCGATCGAACCA 0.647000 5 21 0 0 0.000602214 0 0 GABARAP 11337 broad.mit.edu 37 17 7144702 7144702 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr17:7144702C>T ENST00000302386.5 - 3 686 c.247G>A c.(247-249)Gtc>Atc p.V83I GABARAP_ENST00000577035.1_5'UTR|GABARAP_ENST00000571129.1_5'UTR|GABARAP_ENST00000573928.1_Missense_Mutation_p.V83I|CTD-2545G14.7_ENST00000570760.2_3'UTR|GABARAP_ENST00000571253.1_5'UTR NM_007278.1 NP_009209.1 O95166 GBRAP_HUMAN GABA(A) receptor-associated protein 83 Interaction with GPHN (By similarity). protein targeting|synaptic transmission autophagic vacuole membrane|Golgi membrane|microtubule|plasma membrane beta-tubulin binding|GABA receptor binding breast(1)|lung(2) 3 GGTGGAATGACATTGTTGACA 0.493000 73 157 0 0 0.000781405 0 0 MUC5B 727897 broad.mit.edu 37 11 1272463 1272463 + Missense_Mutation SNP G G C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr11:1272463G>C ENST00000447027.1 + 31 14420 c.14362G>C c.(14362-14364)Gag>Cag p.E4788Q MUC5B_ENST00000529681.1_Missense_Mutation_p.E4785Q Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4785 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTCTACTCCAGAGACCACCCA 0.622000 21 52 0 0 0.00152264 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C rs139671425 by1000genomes TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr17:39240627T>C ENST00000391417.4 + 1 169 c.169T>C c.(169-171)Tct>Cct p.S57P NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.S57P(4) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 GTGCTGCCAGTCTGTGTGCTG 0.667000 5 75 0 0 0.000442599 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6436946 6436946 + Missense_Mutation SNP A A G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr12:6436946A>G ENST00000449001.2 + 14 2595 c.2101A>G c.(2101-2103)Atg>Gtg p.M701V PLEKHG6_ENST00000396988.3_Missense_Mutation_p.M733V|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.M733V|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.M263V NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 733 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 CCTGCGCCCAATGCGGGCTGA 0.652000 14 14 0 0 0.000219431 0 0 SRBD1 55133 broad.mit.edu 37 2 45808903 45808903 + Nonsense_Mutation SNP C C A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr2:45808903C>A ENST00000263736.4 - 6 924 c.862G>T c.(862-864)Gaa>Taa p.E288* NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 288 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) ATCTTCCCTTCCTTCTTAATT 0.323000 6 32 2.0095e-06 1.45764e-05 8.12818e-05 1 0 AASS 10157 broad.mit.edu 37 7 121738825 121738825 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr7:121738825C>G ENST00000393376.1 - 13 1597 c.1502G>C c.(1501-1503)aGa>aCa p.R501T AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.R501T Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 501 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) ATTGCCATCTCTTGATAAATA 0.353000 15 31 0 0 0.000219431 0 0 POLR2C 5432 broad.mit.edu 37 16 57500100 57500100 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr16:57500100C>T ENST00000219252.5 + 4 557 c.219C>T c.(217-219)ctC>ctT p.L73L POLR2C_ENST00000564651.1_3'UTR NM_032940.2 NP_116558.1 P19387 RPB3_HUMAN polymerase (RNA) II (DNA directed) polypeptide C, 33kDa 73 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 10 TAATTCCCCTCATTAGTGATG 0.458000 43 172 0 0 0.000781405 0 0 ELMO3 79767 broad.mit.edu 37 16 67236566 67236566 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr16:67236566C>G ENST00000393997.2 + 15 1651 c.1594C>G c.(1594-1596)Ctg>Gtg p.L532V ELMO3_ENST00000477898.1_Missense_Mutation_p.L366V|ELMO3_ENST00000360833.1_Missense_Mutation_p.L515V NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 479 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) GGCCCGCACTCTGGCCCTGAA 0.657000 16 36 0 0 0.000308642 0 0 TBCCD1 55171 broad.mit.edu 37 3 186272056 186272056 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr3:186272056C>T ENST00000424280.1 - 6 2010 c.1531G>A c.(1531-1533)Gct>Act p.A511T TBCCD1_ENST00000446782.1_Missense_Mutation_p.A415T|TBCCD1_ENST00000479590.1_5'UTR|TBCCD1_ENST00000338733.5_Missense_Mutation_p.A511T NM_001134415.1 NP_001127887.1 Q9NVR7 TBCC1_HUMAN TBCC domain containing 1 511 cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape spindle pole centrosome binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1) 17 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.3e-21) GBM - Glioblastoma multiforme(93;0.0474) GTCAAATGAGCCTCCTTCACA 0.403000 14 85 0 0 0.000422831 0 0 TAS2R16 50833 broad.mit.edu 37 7 122635662 122635662 + Missense_Mutation SNP G G C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr7:122635662G>C ENST00000249284.2 - 1 92 c.27C>G c.(25-27)ttC>ttG p.F9L NM_016945.2 NP_058641.1 Q9NYV7 T2R16_HUMAN taste receptor, type 2, member 16 9 detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TGATCATGAAGAAGACAGTGA 0.448000 9 20 0 0 0.000274275 0 0 LMTK3 114783 broad.mit.edu 37 19 48994458 48994458 + Missense_Mutation SNP G G T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr19:48994458G>T ENST00000600059.1 - 14 4500 c.4273C>A c.(4273-4275)Cca>Aca p.P1425T LMTK3_ENST00000270238.3_Missense_Mutation_p.P1454T lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GGGGGGCCTGGAGGGGGGAGG 0.731000 4 6 1.23904e-05 8.94317e-05 0.000602214 1 0 ACOT12 134526 broad.mit.edu 37 5 80631635 80631635 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr5:80631635C>T ENST00000307624.3 - 12 1242 c.1214G>A c.(1213-1215)cGt>cAt p.R405H ACOT12_ENST00000508234.1_5'UTR NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 405 START. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity p.R405H(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) AGACAAGAGACGATAAGCCAA 0.353000 8 38 0 0 0.000157383 0 0 PRDM1 639 broad.mit.edu 37 6 106553409 106553409 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr6:106553409C>T ENST00000369096.4 + 5 1608 c.1374C>T c.(1372-1374)caC>caT p.H458H PRDM1_ENST00000369089.3_Silent_p.H324H|PRDM1_ENST00000369091.2_Silent_p.H422H NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 458 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) GCCTGCCCCACCCCATGCTCA 0.642000 """D, N, Mis, F, S""" DLBCL 18 32 0 0 0.000958276 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103410783 103410783 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr14:103410783C>T ENST00000361246.2 - 30 4141 c.3853G>A c.(3853-3855)Gag>Aag p.E1285K NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1285 CNH. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.E1285K(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) GGAGCAAGCTCGATCTGGTGT 0.602000 6 14 0 0 0.00116845 0 0 ZNF233 353355 broad.mit.edu 37 19 44777398 44777398 + Silent SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr19:44777398G>A ENST00000391958.2 + 5 712 c.585G>A c.(583-585)caG>caA p.Q195Q ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Intron NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 195 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) AGAATTATCAGAGTAGGTGTC 0.378000 7 48 0 0 8.12818e-05 0 0 ZNF678 339500 broad.mit.edu 37 1 227843393 227843393 + Missense_Mutation SNP G G C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:227843393G>C ENST00000343776.5 + 4 1787 c.1442G>C c.(1441-1443)aGa>aCa p.R481T ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.R536T NM_178549.3 NP_848644.2 F5GXA7 F5GXA7_HUMAN zinc finger protein 678 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) CGTCATAAAAGAATTCATACT 0.353000 10 35 0 0 0.000442599 0 0 USP54 159195 broad.mit.edu 37 10 75289990 75289990 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr10:75289990C>T ENST00000339859.4 - 13 1839 c.1739G>A c.(1738-1740)cGa>cAa p.R580Q USP54_ENST00000428547.1_Missense_Mutation_p.R430Q|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.R580Q|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.R580Q Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 580 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) CAGAGATTCTCGTTTGGGTCT 0.458000 19 40 0 0 0.00074312 0 0 ANKLE2 23141 broad.mit.edu 37 12 133331326 133331326 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr12:133331326G>A ENST00000539605.1 - 1 7073 c.389C>T c.(388-390)gCg>gTg p.A130V ANKLE2_ENST00000357997.5_Missense_Mutation_p.A192V|ANKLE2_ENST00000337516.5_Missense_Mutation_p.A192V Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 192 cytoplasm|integral to membrane|nuclear envelope NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) CTCCTTAGACGCAGTCGCTCC 0.567000 18 46 0 0 0.000958276 0 0 NEU4 129807 broad.mit.edu 37 2 242756213 242756213 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr2:242756213C>T ENST00000391969.2 + 4 1037 c.326C>T c.(325-327)aCg>aTg p.T109M NEU4_ENST00000405370.1_Missense_Mutation_p.T109M|NEU4_ENST00000325935.6_Missense_Mutation_p.T122M|NEU4_ENST00000404257.1_Missense_Mutation_p.T121M|NEU4_ENST00000407683.1_Missense_Mutation_p.T109M NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 109 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) CTGGGCCACACGCCTGAGGCC 0.706000 5 16 0 0 0.000602214 0 0 RP1 6101 broad.mit.edu 37 8 55540458 55540458 + Missense_Mutation SNP G G T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr8:55540458G>T ENST00000220676.1 + 4 4164 c.4016G>T c.(4015-4017)tGc>tTc p.C1339F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1339 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GTCAATGTCTGCAATACCATT 0.383000 20 66 9.7654e-05 0.000701377 0.000958276 1 0 AKAP9 10142 broad.mit.edu 37 7 91623999 91623999 + Missense_Mutation SNP T T C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr7:91623999T>C ENST00000359028.2 + 7 902 c.677T>C c.(676-678)tTa>tCa p.L226S AKAP9_ENST00000358100.2_Missense_Mutation_p.L226S|AKAP9_ENST00000394564.1_Missense_Mutation_p.L214S|AKAP9_ENST00000356239.3_Missense_Mutation_p.L214S Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 226 Gln-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACTGCTAATTTACAACAAGCA 0.313000 T BRAF papillary thyroid 9 17 0 0 0.000442599 0 0 CLTC 1213 broad.mit.edu 37 17 57760459 57760459 + Missense_Mutation SNP C C G rs141313166 TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr17:57760459C>G ENST00000269122.3 + 25 4151 c.3877C>G c.(3877-3879)Cgt>Ggt p.R1293G CLTC_ENST00000393043.1_Missense_Mutation_p.R1293G|CLTC_ENST00000579456.1_Missense_Mutation_p.R230G NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 1293 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TGTTCAGGATCGTGGCTATTT 0.373000 T """ALK, TFE3""" """ALCL, renal """ 18 92 0 0 0.00074312 0 0 SLC6A15 55117 broad.mit.edu 37 12 85255494 85255494 + Missense_Mutation SNP G G C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr12:85255494G>C ENST00000266682.5 - 12 2651 c.2110C>G c.(2110-2112)Ctg>Gtg p.L704V SLC6A15_ENST00000552192.1_Missense_Mutation_p.L597V|SLC6A15_ENST00000309283.7_3'UTR NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 704 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 GCAGTATCCAGAGTTGGGGAT 0.438000 27 96 0 0 0.000878237 0 0 ANKRD55 79722 broad.mit.edu 37 5 55412454 55412454 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr5:55412454G>A ENST00000341048.4 - 9 1104 c.953C>T c.(952-954)tCc>tTc p.S318F ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000434982.2_Missense_Mutation_p.S30F|ANKRD55_ENST00000504958.2_Missense_Mutation_p.S275F NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 317 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) GCTCTCTTGGGAGAGGAGTTT 0.468000 18 80 0 0 0.000375601 0 0 POLR2A 5430 broad.mit.edu 37 17 7417466 7417466 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr17:7417466C>G ENST00000322644.6 + 29 6282 c.5883C>G c.(5881-5883)atC>atG p.I1961M NM_000937.4 NP_000928 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1961 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) GCCCGGCTATCAGCCCGGATG 0.647000 11 22 0 0 0.000978159 0 0 IGHV4-4 28401 broad.mit.edu 37 14 106478456 106478456 + RNA SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr14:106478456C>G ENST00000390596.2 - 0 110 TCAGAGGCACCTCCCATATCC 0.592000 5 47 0 0 8.12818e-05 0 0 FSD2 123722 broad.mit.edu 37 15 83455983 83455983 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr15:83455983C>G ENST00000334574.8 - 2 341 c.160G>C c.(160-162)Gag>Cag p.E54Q FSD2_ENST00000541889.1_Missense_Mutation_p.E54Q A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 54 breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 CCTCTTGACTCATTGGCCATT 0.448000 36 61 0 0 0.00058488 0 0 ARID1A 8289 broad.mit.edu 37 1 27094480 27094480 + Missense_Mutation SNP G G T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:27094480G>T ENST00000324856.7 + 11 3559 c.3188G>T c.(3187-3189)gGa>gTa p.G1063V ARID1A_ENST00000457599.2_Missense_Mutation_p.G1063V|ARID1A_ENST00000374152.2_Missense_Mutation_p.G680V NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1063 ARID. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GAGATTGGTGGATTGACTCAG 0.532000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 20 37 2.4624e-09 1.84111e-08 0.00121646 1 0 ZNF432 9668 broad.mit.edu 37 19 52538328 52538328 + Nonsense_Mutation SNP C C A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr19:52538328C>A ENST00000594154.1 - 5 816 c.604G>T c.(604-606)Gaa>Taa p.E202* ZNF432_ENST00000221315.5_Nonsense_Mutation_p.E202* O94892 ZN432_HUMAN zinc finger protein 432 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) TGGTTTTTTTCTATTTCATGA 0.378000 29 61 1.2476e-16 9.57368e-16 0.00106085 1 0 ZNF646 9726 broad.mit.edu 37 16 31088969 31088969 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr16:31088969C>T ENST00000394979.2 + 1 1747 c.1324C>T c.(1324-1326)Ccc>Tcc p.P442S ZNF646_ENST00000300850.5_Missense_Mutation_p.P442S O15015 ZN646_HUMAN zinc finger protein 646 442 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CCCACCAGCTCCCCTGCTGCT 0.602000 4 26 0 0 0.00116845 0 0 DMBX1 127343 broad.mit.edu 37 1 46978117 46978117 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:46978117G>A ENST00000371956.4 + 4 1115 c.1100G>A c.(1099-1101)cGg>cAg p.R367Q DMBX1_ENST00000360032.3_Missense_Mutation_p.R362Q NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 367 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) CTGCGGCTCCGGGCCAAGCAG 0.637000 15 67 0 0 0.00074312 0 0 STC2 8614 broad.mit.edu 37 5 172745097 172745097 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr5:172745097G>A ENST00000265087.4 - 4 1971 c.662C>T c.(661-663)gCg>gTg p.A221V NM_003714.2 NP_003705.1 O76061 STC2_HUMAN stanniocalcin 2 221 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CTCGGGGGGCGCCGTGGGAGG 0.647000 9 21 0 0 0.000442599 0 0 TMEM26 219623 broad.mit.edu 37 10 63170335 63170335 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr10:63170335C>G ENST00000399298.3 - 6 1220 c.852G>C c.(850-852)caG>caC p.Q284H TMEM26_ENST00000507507.1_5'UTR NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 284 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) ACACCAGCATCTGATTGATCA 0.512000 7 15 0 0 8.12818e-05 0 0 DCHS2 54798 broad.mit.edu 37 4 155312359 155312359 + Missense_Mutation SNP A A G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr4:155312359A>G ENST00000357232.4 - 1 90 c.91T>C c.(91-93)Tat>Cat p.Y31H DCHS2_ENST00000339452.1_Intron NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TACACCTCATATACACAGGCA 0.323000 4 15 0 0 0.000602214 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144994605 144994605 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:144994605C>T ENST00000369359.4 - 4 576 c.538G>A c.(538-540)Gac>Aac p.D180N PDE4DIP_ENST00000369348.3_Missense_Mutation_p.D180N|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.D43N|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.D43N|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.D43N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.D109N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.D180N|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.D43N|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.D43N Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 43 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) TTGTAGATGTCCTCCCGGCTG 0.602000 T PDGFRB MPD 5 119 0 0 0.000602214 0 0 NCOA3 8202 broad.mit.edu 37 20 46265061 46265061 + Nonsense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr20:46265061C>G ENST00000372004.3 + 12 2147 c.1931C>G c.(1930-1932)tCa>tGa p.S644* NCOA3_ENST00000371997.3_Nonsense_Mutation_p.S654*|NCOA3_ENST00000371998.3_Nonsense_Mutation_p.S644*|NCOA3_ENST00000341724.6_Nonsense_Mutation_p.S654* NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 644 Ser-rich. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.S644*(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 CCCCTAGATTCAAGTTGTAAA 0.463000 16 130 0 0 0.00074312 0 0 GABRG2 2566 broad.mit.edu 37 5 161580266 161580266 + Silent SNP G G C rs150727562 TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr5:161580266G>C ENST00000356592.3 + 10 1780 c.1320G>C c.(1318-1320)ggG>ggC p.G440G GABRG2_ENST00000393933.4_Silent_p.G337G|GABRG2_ENST00000414552.2_Silent_p.G480G|GABRG2_ENST00000361925.4_Silent_p.G432G NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 432 Interaction with GABARAP (Potential). 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) GGAGACATGGGAGGATACATA 0.483000 24 56 0 0 0.00047179 0 0 LMAN2 10960 broad.mit.edu 37 5 176778190 176778190 + Missense_Mutation SNP G G C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr5:176778190G>C ENST00000303127.7 - 2 503 c.299C>G c.(298-300)tCt>tGt p.S100C LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Missense_Mutation_p.S100C NM_006816.2 NP_006807.1 Q12907 LMAN2_HUMAN lectin, mannose-binding 2 100 L-type lectin-like. protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane metal ion binding|sugar binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTTCCAGATAGAGCCCTCTTT 0.597000 38 77 0 0 0.00111076 0 0 SFTPA2 729238 broad.mit.edu 37 10 81317242 81317242 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr10:81317242C>G ENST00000372325.2 - 6 554 c.470G>C c.(469-471)aGa>aCa p.R157T SFTPA2_ENST00000372327.5_Missense_Mutation_p.R157T NM_001098668.2 NP_001092138.1 Q8IWL1 SFPA2_HUMAN surfactant protein A2 157 C-type lectin. cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) GCCGCCTGCTCTGGCACATGC 0.522000 Pulmonary Fibrosis, Idiopathic 32 80 0 0 0.000437636 0 0 PTPRS 5802 broad.mit.edu 37 19 5244206 5244206 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr19:5244206G>A ENST00000372412.4 - 11 1512 c.1279C>T c.(1279-1281)Ccg>Tcg p.P427S PTPRS_ENST00000588012.1_Missense_Mutation_p.P413S|PTPRS_ENST00000353284.2_Missense_Mutation_p.P413S|PTPRS_ENST00000587303.1_Missense_Mutation_p.P426S|PTPRS_ENST00000348075.2_Missense_Mutation_p.P413S|PTPRS_ENST00000592099.1_Missense_Mutation_p.P413S|PTPRS_ENST00000357368.4_Missense_Mutation_p.P426S|PTPRS_ENST00000262963.6_Missense_Mutation_p.P422S|PTPRS_ENST00000588552.1_5'UTR Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 426 Fibronectin type-III 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GCGCTGGCCGGGGCCTGCTCG 0.706000 30 72 0 0 0.000409698 0 0 OR2L13 284521 broad.mit.edu 37 1 248262935 248262935 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:248262935C>T ENST00000366478.2 + 3 595 c.258C>T c.(256-258)tcC>tcT p.S86S OR2L13_ENST00000358120.2_Silent_p.S86S NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 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;0.0132) ACTTCCTGTCCGGCCAGAAAG 0.542000 22 105 0 0 0.000295444 0 0 MITF 4286 broad.mit.edu 37 3 69915468 69915468 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr3:69915468C>T ENST00000314589.5 + 1 39 c.27C>T c.(25-27)ttC>ttT p.F9F MITF_ENST00000352241.4_Intron|MITF_ENST00000328528.6_Intron|MITF_ENST00000448226.2_Intron|MITF_ENST00000472437.1_Intron O75030 MITF_HUMAN microphthalmia-associated transcription factor 0 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) TTCAGATGTTCATGCCATGCT 0.428000 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" 20 54 0 0 0.000295444 0 0 BRWD1 54014 broad.mit.edu 37 21 40665770 40665770 + Silent SNP G G C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr21:40665770G>C ENST00000342449.3 - 8 876 c.798C>G c.(796-798)ctC>ctG p.L266L BRWD1_ENST00000380800.3_Silent_p.L266L|BRWD1_ENST00000333229.2_Silent_p.L266L NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 266 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TGTGTCCTTGGAGCACAGCAA 0.388000 9 34 0 0 0.000274275 0 0 SCYL2 55681 broad.mit.edu 37 12 100707302 100707302 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr12:100707302G>A ENST00000360820.2 + 7 1392 c.955G>A c.(955-957)Gat>Aat p.D319N NM_017988.4 NP_060458.3 Q6P3W7 SCYL2_HUMAN SCY1-like 2 (S. cerevisiae) 319 Protein kinase. endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 ACCAGATGCAGATCAAATGAC 0.348000 24 24 0 0 0.000720815 0 0 PCNXL3 399909 broad.mit.edu 37 11 65386063 65386063 + Silent SNP G G C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr11:65386063G>C ENST00000355703.3 + 6 1769 c.1230G>C c.(1228-1230)cgG>cgC p.R410R NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 410 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CCCCTCGACGGCCCCTGCTTG 0.647000 5 14 0 0 8.12818e-05 0 0 ADAM23 8745 broad.mit.edu 37 2 207459493 207459493 + Missense_Mutation SNP A A T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr2:207459493A>T ENST00000264377.3 + 23 2439 c.2111A>T c.(2110-2112)gAt>gTt p.D704V ADAM23_ENST00000374415.3_Missense_Mutation_p.D704V|ADAM23_ENST00000374416.1_Missense_Mutation_p.D704V NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 704 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) GATGATACGGATGTGGGCTAT 0.423000 11 41 0 0 0.000219431 0 0 PTPRC 5788 broad.mit.edu 37 1 198721477 198721477 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:198721477G>A ENST00000367376.2 + 30 3472 c.3301G>A c.(3301-3303)Gtc>Atc p.V1101I PTPRC_ENST00000442510.2_Missense_Mutation_p.V1103I|PTPRC_ENST00000352140.3_Missense_Mutation_p.V1053I|PTPRC_ENST00000594404.1_Missense_Mutation_p.V940I|PTPRC_ENST00000348564.6_Missense_Mutation_p.V942I NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1101 Tyrosine-protein phosphatase 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TACCCTTCGTGTCTTTGAACT 0.368000 12 57 0 0 0.000151284 0 0 ATR 545 broad.mit.edu 37 3 142215271 142215271 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr3:142215271G>A ENST00000350721.4 - 34 5951 c.5830C>T c.(5830-5832)Ctc>Ttc p.L1944F ATR_ENST00000383101.3_Missense_Mutation_p.L1880F NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1944 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity p.L1944F(1) NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GCATTAAGGAGAGCATTGTAG 0.483000 Other conserved DNA damage response genes 10 39 0 0 0.000673444 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100002641 100002641 + Missense_Mutation SNP T T C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr7:100002641T>C ENST00000398027.2 - 13 1493 c.1246A>G c.(1246-1248)Att>Gtt p.I416V ZCWPW1_ENST00000490721.1_Missense_Mutation_p.I296V|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.I417V|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.I296V NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 416 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCCACCTGAATGCTGATCTGT 0.502000 25 76 0 0 0.00106085 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90160848 90160848 + RNA SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr16:90160848C>T ENST00000567960.1 + 0 156 TUBB8P7_ENST00000564451.1_RNA TGCACCACCGCGAGGCCAGCG 0.697000 8 24 0 0 0.000157383 0 0 KRT71 112802 broad.mit.edu 37 12 52940081 52940081 + Silent SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr12:52940081G>A ENST00000267119.5 - 7 1383 c.1314C>T c.(1312-1314)agC>agT p.S438S NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 438 Coil 2.|Rod. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) TGCACTCCTCGCTCTCCAGTA 0.612000 15 45 0 0 0.000566183 0 0 EPHA5 2044 broad.mit.edu 37 4 66230734 66230734 + Splice_Site SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr4:66230734C>T ENST00000273854.3 - 12 2837 c.e12+1 EPHA5_ENST00000432638.2_Splice_Site|EPHA5_ENST00000511294.1_Splice_Site|EPHA5_ENST00000354839.4_Splice_Site NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 ATCATACTTACTTTTGGTCAC 0.338000 TSP Lung(17;0.13) 10 67 0 0 0.000978159 0 0 KALRN 8997 broad.mit.edu 37 3 124165105 124165105 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr3:124165105C>T ENST00000360013.3 + 20 3532 c.3405C>T c.(3403-3405)ttC>ttT p.F1135F KALRN_ENST00000460856.1_Silent_p.F1126F|KALRN_ENST00000240874.3_Silent_p.F1135F NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1135 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 ATGTGGTGTTCGAGCGCAGCG 0.552000 9 19 0 0 0.000673444 0 0 HLA-B 3106 broad.mit.edu 37 6 31323154 31323154 + Missense_Mutation SNP G G T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr6:31323154G>T ENST00000412585.2 - 4 863 c.835C>A c.(835-837)Cag>Aag p.Q279K NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 GTGTATCTCTGCTCTTCTCCA 0.562000 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 12 65 1.08611e-07 7.91773e-07 0.000978159 1 0 ARID1A 8289 broad.mit.edu 37 1 27087464 27087464 + Missense_Mutation SNP C C A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:27087464C>A ENST00000324856.7 + 5 2409 c.2038C>A c.(2038-2040)Cct>Act p.P680T ARID1A_ENST00000457599.2_Missense_Mutation_p.P680T|ARID1A_ENST00000374152.2_Missense_Mutation_p.P297T NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 680 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGCTCAGTCTCCTTTCTCTCC 0.597000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 16 49 9.16793e-09 6.7852e-08 0.000566183 1 0 ZDHHC16 84287 broad.mit.edu 37 10 99212255 99212255 + Nonsense_Mutation SNP C C A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr10:99212255C>A ENST00000393760.1 + 5 871 c.522C>A c.(520-522)tgC>tgA p.C174* ZDHHC16_ENST00000370842.2_Nonsense_Mutation_p.C174*|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000370854.3_Nonsense_Mutation_p.C174*|ZDHHC16_ENST00000345745.5_Nonsense_Mutation_p.C109*|ZDHHC16_ENST00000370846.4_Nonsense_Mutation_p.C174*|ZDHHC16_ENST00000353979.3_Nonsense_Mutation_p.C174*|ZDHHC16_ENST00000352634.4_Nonsense_Mutation_p.C174* NM_198046.1 NP_932163.1 Q969W1 ZDH16_HUMAN zinc finger, DHHC-type containing 16 174 apoptosis endoplasmic reticulum membrane|integral to membrane acyltransferase activity|zinc ion binding kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 14 Colorectal(252;0.0846) Epithelial(162;5.81e-10)|all cancers(201;4.19e-08) GCAGCATCTGCAACAGGTGGG 0.532000 9 22 5.68852e-11 4.31972e-10 0.000274275 1 0 MS4A13 503497 broad.mit.edu 37 11 60296857 60296857 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr11:60296857C>T ENST00000378186.2 + 6 649 c.326C>T c.(325-327)tCa>tTa p.S109L MS4A13_ENST00000527948.1_Intron|MS4A13_ENST00000378185.2_Missense_Mutation_p.S69L|MS4A13_ENST00000437058.2_Missense_Mutation_p.S50L NM_001012417.2 NP_001012417.2 Q5J8X5 M4A13_HUMAN membrane-spanning 4-domains, subfamily A, member 13 109 integral to membrane endometrium(3)|large_intestine(1)|lung(2)|skin(2) 8 AGGGAAGTATCACGTATTTTA 0.378000 7 55 0 0 0.000157383 0 0 SSPO 23145 broad.mit.edu 37 7 149497502 149497502 + RNA SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr7:149497502C>T ENST00000378016.2 + 0 7260 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCGACGGCTCCGACGAGAGGC 0.632000 4 5 0 0 0.000602214 0 0 CACNA1G 8913 broad.mit.edu 37 17 48696225 48696225 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr17:48696225C>T ENST00000352832.5 + 31 5907 c.5535C>T c.(5533-5535)agC>agT p.S1845S CACNA1G_ENST00000515765.1_Silent_p.S1868S|CACNA1G_ENST00000507896.1_Silent_p.S1868S|CACNA1G_ENST00000514079.1_Silent_p.S1886S|CACNA1G_ENST00000507510.2_Silent_p.S1879S|CACNA1G_ENST00000502264.1_Silent_p.S1856S|CACNA1G_ENST00000507609.1_Silent_p.S1872S|CACNA1G_ENST00000513964.1_Silent_p.S1834S|CACNA1G_ENST00000510115.1_Silent_p.S1845S|CACNA1G_ENST00000512389.1_Silent_p.S1868S|CACNA1G_ENST00000358244.5_Silent_p.S1845S|CACNA1G_ENST00000515165.1_Silent_p.S1879S|CACNA1G_ENST00000510366.1_Silent_p.S1827S|CACNA1G_ENST00000442258.2_Silent_p.S1838S|CACNA1G_ENST00000515411.1_Silent_p.S1861S|CACNA1G_ENST00000514717.1_Silent_p.S1822S|CACNA1G_ENST00000354983.4_Silent_p.S1845S|CACNA1G_ENST00000360761.4_Silent_p.S1856S|CACNA1G_ENST00000359106.5_Silent_p.S1879S|CACNA1G_ENST00000505165.1_Silent_p.S1879S|CACNA1G_ENST00000513689.2_Silent_p.S1834S|CACNA1G_ENST00000507336.1_Silent_p.S1868S|CACNA1G_ENST00000429973.2_Silent_p.S1861S|CACNA1G_ENST00000503485.1_Silent_p.S1845S|CACNA1G_ENST00000514181.1_Silent_p.S1854S NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1879 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AGACCCTCAGCCCCCAGCCCC 0.682000 5 24 0 0 0.000602214 0 0 ZNF135 7694 broad.mit.edu 37 19 58572991 58572991 + Missense_Mutation SNP A A G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr19:58572991A>G ENST00000401053.4 + 2 116 c.113A>G c.(112-114)gAg>gGg p.E38G ZNF135_ENST00000511556.1_Missense_Mutation_p.E26G|ZNF135_ENST00000506786.1_5'UTR|ZNF135_ENST00000439855.2_Missense_Mutation_p.E26G|ZNF135_ENST00000359978.6_Missense_Mutation_p.E38G|ZNF135_ENST00000313434.5_Missense_Mutation_p.E26G NM_001164529.1|NM_007134.1 NP_001158001.1|NP_009065.1 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 26 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) TTCAGCCAGGAGGAGTGGGGG 0.592000 22 97 0 0 0.000295444 0 0 VPS8 23355 broad.mit.edu 37 3 184573593 184573593 + Missense_Mutation SNP T T C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr3:184573593T>C ENST00000287546.4 + 13 1301 c.1130T>C c.(1129-1131)gTt>gCt p.V377A VPS8_ENST00000446204.2_Missense_Mutation_p.V375A|VPS8_ENST00000437079.3_Missense_Mutation_p.V377A|VPS8_ENST00000436792.2_Missense_Mutation_p.V375A NM_015303.3 NP_056118.2 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 377 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) GGAGATGTTGTTCATTTTCTA 0.383000 24 95 0 0 0.000375601 0 0 EXOC7 23265 broad.mit.edu 37 17 74080103 74080103 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr17:74080103C>T ENST00000607838.1 - 19 2099 c.2005G>A c.(2005-2007)Ggg>Agg p.G669R EXOC7_ENST00000589210.1_Missense_Mutation_p.G646R|EXOC7_ENST00000467929.2_Missense_Mutation_p.G618R|EXOC7_ENST00000411744.2_Missense_Mutation_p.G638R|EXOC7_ENST00000405575.4_Missense_Mutation_p.G655R|EXOC7_ENST00000335146.7_Missense_Mutation_p.G697R|EXOC7_ENST00000332065.5_Missense_Mutation_p.G615R NM_001145297.2|NM_001145298.2|NM_001145299.2 NP_001138769.1|NP_001138770.1|NP_001138771.1 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 697 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) AGAAAGGCCCCGTAGGTCTCC 0.572000 6 20 0 0 0.00116845 0 0 ACTL8 81569 broad.mit.edu 37 1 18149668 18149668 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:18149668C>T ENST00000375406.1 + 2 381 c.165C>T c.(163-165)atC>atT p.I55I NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 55 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) GCCTGGGCATCGACATTTGCC 0.577000 20 58 0 0 0.00152264 0 0 IL1RAP 3556 broad.mit.edu 37 3 190321956 190321956 + Missense_Mutation SNP T T G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr3:190321956T>G ENST00000412504.2 + 3 356 c.104T>G c.(103-105)aTc>aGc p.I35S IL1RAP_ENST00000072516.3_Missense_Mutation_p.I35S|IL1RAP_ENST00000317757.3_Missense_Mutation_p.I35S|IL1RAP_ENST00000439062.1_Missense_Mutation_p.I35S|IL1RAP_ENST00000447382.1_Missense_Mutation_p.I35S|IL1RAP_ENST00000434491.1_Intron|IL1RAP_ENST00000443369.2_Missense_Mutation_p.I35S|IL1RAP_ENST00000422940.1_Missense_Mutation_p.I35S|IL1RAP_ENST00000422485.1_Missense_Mutation_p.I35S Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein 35 Ig-like C2-type 1. inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) ATGAGGCAAATCCAAGTGTTT 0.453000 8 39 0 0 0.000274275 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62887176 62887176 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr6:62887176C>T ENST00000281156.4 - 2 411 c.133G>A c.(133-135)Gaa>Aaa p.E45K NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 45 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) TTCTTTTCTTCGTCTTCCTTT 0.328000 4 11 0 0 0.00024832 0 0 AMZ2 51321 broad.mit.edu 37 17 66252988 66252988 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr17:66252988G>A ENST00000359904.3 + 7 2093 c.961G>A c.(961-963)Gac>Aac p.D321N AMZ2_ENST00000392720.2_Missense_Mutation_p.D321N|AMZ2_ENST00000577985.1_Missense_Mutation_p.D321N|AMZ2_ENST00000577273.1_3'UTR|AMZ2_ENST00000580753.1_Missense_Mutation_p.D321N|AMZ2_ENST00000577866.1_Missense_Mutation_p.D321N|AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000359783.4_Missense_Mutation_p.D263N NM_016627.4 NP_057711.3 Q86W34 AMZ2_HUMAN archaelysin family metallopeptidase 2 321 metallopeptidase activity|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 9 all_cancers(12;1.12e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) TGAATCTTCTGACACACCTGG 0.443000 7 54 0 0 8.12818e-05 0 0 OR4M1 441670 broad.mit.edu 37 14 20249081 20249081 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr14:20249081C>T ENST00000315957.4 + 1 681 c.600C>T c.(598-600)atC>atT p.I200I NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TAGTGATGATCTGTAGTAGTG 0.478000 83 275 0 0 0.000781405 0 0 FTSJ3 117246 broad.mit.edu 37 17 61902079 61902079 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr17:61902079C>G ENST00000427159.2 - 10 1480 c.835G>C c.(835-837)Gag>Cag p.E279Q NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 279 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 TGTGCCAACTCTTCATCATCT 0.552000 24 125 0 0 0.000586117 0 0 NAPSA 9476 broad.mit.edu 37 19 50863119 50863119 + Splice_Site SNP C C A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr19:50863119C>A ENST00000253719.2 - 6 877 c.669G>T c.(667-669)agG>agT p.R223S NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 223 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) CTTCAGGGTCCCTGCAGGGGC 0.612000 8 63 0.000157383 0.00112483 0.000157383 1 0 NUP98 4928 broad.mit.edu 37 11 3726529 3726529 + Missense_Mutation SNP G G C rs144100440 TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr11:3726529G>C ENST00000324932.7 - 22 3403 c.2983C>G c.(2983-2985)Cgc>Ggc p.R995G NUP98_ENST00000359171.4_Missense_Mutation_p.R995G|NUP98_ENST00000355260.3_Missense_Mutation_p.R995G NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1012 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CGACTGAAGCGTTGATCCAGT 0.433000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 19 23 0 0 0.00121646 0 0 HTT 3064 broad.mit.edu 37 4 3237303 3237303 + Silent SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr4:3237303G>A ENST00000355072.5 + 63 8728 c.8583G>A c.(8581-8583)gtG>gtA p.V2861V NM_002111.6 NP_002102 P42858 HD_HUMAN huntingtin 2861 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TGTGTGGGGTGATGCTGTCTG 0.587000 6 22 0 0 0.00116845 0 0 NOD2 64127 broad.mit.edu 37 16 50756557 50756557 + Silent SNP C C T rs104895451 TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr16:50756557C>T ENST00000300589.2 + 8 2844 c.2739C>T c.(2737-2739)gaC>gaT p.D913D NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 913 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) GAGTGGGTGACGAGGGGGCCC 0.517000 65 257 0 0 0.000781405 0 0 P2RY1 5028 broad.mit.edu 37 3 152553928 152553928 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr3:152553928C>T ENST00000305097.3 + 1 1193 c.357C>T c.(355-357)ttC>ttT p.F119F NM_002563.3 NP_002554.1 P47900 P2RY1_HUMAN purinergic receptor P2Y, G-protein coupled, 1 119 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) ACTGGATCTTCGGGGATGCCA 0.488000 19 41 0 0 0.00152264 0 0 PLEC 5339 broad.mit.edu 37 8 144992844 144992844 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr8:144992844C>T ENST00000322810.4 - 32 11725 c.11556G>A c.(11554-11556)ctG>ctA p.L3852L PLEC_ENST00000354958.2_Silent_p.L3693L|PLEC_ENST00000436759.2_Silent_p.L3742L|PLEC_ENST00000398774.2_Silent_p.L3683L|PLEC_ENST00000345136.3_Silent_p.L3715L|PLEC_ENST00000357649.2_Silent_p.L3719L|PLEC_ENST00000527096.1_Silent_p.L3738L|PLEC_ENST00000354589.3_Silent_p.L3715L|PLEC_ENST00000356346.3_Silent_p.L3701L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3852 Globular 2. 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 CCTCGGCACTCAGCAGCCCTT 0.652000 11 138 0 0 0.000978159 0 0 KCNN3 3782 broad.mit.edu 37 1 154841877 154841877 + Silent SNP G G T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:154841877G>T ENST00000271915.4 - 1 879 c.564C>A c.(562-564)ctC>ctA p.L188L NM_001204087.1|NM_002249.5 NP_001191016.1|NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) TGAGGCGGCTGAGGGGCTTCA 0.652000 18 75 9.16793e-09 6.7852e-08 0.000566183 1 0 FNBP4 23360 broad.mit.edu 37 11 47746078 47746078 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr11:47746078C>T ENST00000263773.5 - 13 2273 c.2261G>A c.(2260-2262)gGa>gAa p.G754E NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 754 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 TTCCTCTGTTCCTGGGGCAGG 0.532000 36 133 0 0 0.000814825 0 0 CEP192 55125 broad.mit.edu 37 18 13114182 13114182 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr18:13114182C>T ENST00000506447.1 + 42 7301 c.7221C>T c.(7219-7221)ctC>ctT p.L2407L CEP192_ENST00000430049.2_Silent_p.L1932L|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Silent_p.L1811L NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 2002 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CGGATTCCCTCATTAAAATAG 0.393000 43 102 0 0 0.000509022 0 0 CPT1B 1375 broad.mit.edu 37 22 51012112 51012112 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr22:51012112C>T ENST00000360719.2 - 10 1140 c.1003G>A c.(1003-1005)Gtg>Atg p.V335M CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000405237.3_Missense_Mutation_p.V335M|CPT1B_ENST00000395650.2_Missense_Mutation_p.V335M|CPT1B_ENST00000312108.7_Missense_Mutation_p.V335M|CPT1B_ENST00000440709.1_Missense_Mutation_p.V335M|CPT1B_ENST00000434492.2_Missense_Mutation_p.V132M|CPT1B_ENST00000457250.1_Missense_Mutation_p.V301M NM_001145135.1|NM_152245.2 NP_001138607.1|NP_689451.1 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B (muscle) 335 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) TAGACAGCCACGTGCCGGCTG 0.617000 8 19 0 0 0.000157383 0 0 ZNF454 285676 broad.mit.edu 37 5 178392140 178392140 + Silent SNP A A G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr5:178392140A>G ENST00000320129.3 + 5 1038 c.735A>G c.(733-735)gaA>gaG p.E245E ZNF454_ENST00000519564.1_Silent_p.E245E NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) AACCCTATGAATGTAAGGAAT 0.428000 14 48 0 0 0.000219431 0 0 SYMPK 8189 broad.mit.edu 37 19 46324658 46324658 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr19:46324658C>G ENST00000245934.7 - 22 3121 c.2877G>C c.(2875-2877)atG>atC p.M959I SYMPK_ENST00000598155.1_5'UTR NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 959 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) TGATGGATTTCATGTCGCACT 0.607000 3 31 0 0 6.4e-05 0 0 SCN3B 55800 broad.mit.edu 37 11 123513204 123513204 + Missense_Mutation SNP C C A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr11:123513204C>A ENST00000392770.2 - 3 1197 c.395G>T c.(394-396)cGg>cTg p.R132L SCN3B_ENST00000530277.1_Missense_Mutation_p.R132L|SCN3B_ENST00000299333.3_Missense_Mutation_p.R132L NM_018400.3 NP_060870.1 Q9NY72 SCN3B_HUMAN sodium channel, voltage-gated, type III, beta subunit 132 Ig-like C2-type. axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2) 26 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) CACAAAGGGCCGATGCGCCTC 0.597000 18 27 6.94344e-10 5.24536e-09 0.00074312 1 0 SUPT6H 6830 broad.mit.edu 37 17 27001424 27001424 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr17:27001424C>T ENST00000314616.6 + 3 516 c.233C>T c.(232-234)tCa>tTa p.S78L SUPT6H_ENST00000347486.4_Missense_Mutation_p.S78L NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 78 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCTGGTGATTCAGAAGATGAT 0.493000 6 13 0 0 0.00116845 0 0 FRG1B 284802 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 4 79 0 0 0.00116845 0 0 PHF3 23469 broad.mit.edu 37 6 64412521 64412521 + Missense_Mutation SNP G G C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr6:64412521G>C ENST00000262043.3 + 10 3563 c.3223G>C c.(3223-3225)Gag>Cag p.E1075Q PHF3_ENST00000393387.1_Missense_Mutation_p.E1075Q Q92576 PHF3_HUMAN PHD finger protein 3 1075 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AGCAGCCATGGAGATTCAGGT 0.368000 18 46 0 0 0.000566183 0 0 LCA5L 150082 broad.mit.edu 37 21 40800279 40800279 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr21:40800279C>G ENST00000358268.2 - 4 669 c.141G>C c.(139-141)aaG>aaC p.K47N LCA5L_ENST00000485895.2_Missense_Mutation_p.K47N|LCA5L_ENST00000288350.3_Missense_Mutation_p.K47N|LCA5L_ENST00000380671.2_Missense_Mutation_p.K47N O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 47 breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 24 Prostate(19;1.2e-06) AATCAACACTCTTATTGGAAG 0.413000 16 70 0 0 0.000566183 0 0 SETX 23064 broad.mit.edu 37 9 135202958 135202958 + Silent SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr9:135202958G>A ENST00000372169.2 - 10 4209 c.4027C>T c.(4027-4029)Ctg>Ttg p.L1343L SETX_ENST00000224140.5_Silent_p.L1343L|SETX_ENST00000393220.1_Silent_p.L1343L Q7Z333 SETX_HUMAN senataxin 1343 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TGACTAGTCAGAAGTTTCTTA 0.358000 12 41 0 0 0.000219431 0 0 FAM120B 84498 broad.mit.edu 37 6 170632213 170632213 + Missense_Mutation SNP A A G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr6:170632213A>G ENST00000476287.1 + 3 1889 c.1781A>G c.(1780-1782)aAc>aGc p.N594S FAM120B_ENST00000540480.1_Missense_Mutation_p.N606S|FAM120B_ENST00000537664.1_Missense_Mutation_p.N617S|FAM120B_ENST00000252510.9_Intron NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 594 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) CTGGTGTACAACATCATGAGC 0.443000 23 21 0 0 0.00047179 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179555574 179555574 + Silent SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr5:179555574G>A ENST00000393371.2 - 4 771 c.475C>T c.(475-477)Ctg>Ttg p.L159L RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000361132.4_Silent_p.L159L|RASGEF1C_ENST00000522500.1_Silent_p.L8L Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 159 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCTGGTGCAGAGCCTGTAGG 0.597000 11 16 0 0 0.000978159 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6859845 6859845 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr18:6859845C>T ENST00000419673.2 + 4 415 c.198C>T c.(196-198)gaC>gaT p.D66D ARHGAP28_ENST00000418986.1_Silent_p.D66D|ARHGAP28_ENST00000314319.3_Silent_p.D66D|ARHGAP28_ENST00000262227.3_Silent_p.D173D|ARHGAP28_ENST00000531294.1_Silent_p.D61D|ARHGAP28_ENST00000532996.1_Silent_p.D48D|ARHGAP28_ENST00000383472.4_Silent_p.D225D|ARHGAP28_ENST00000400091.2_Silent_p.D225D NM_001010000.2 NP_001010000.1 B4DXL2 B4DXL2_HUMAN Rho GTPase activating protein 28 48 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) CCCTGTCTGACGCATCCCAGG 0.423000 50 116 0 0 0.000781405 0 0 CIT 11113 broad.mit.edu 37 12 120142238 120142238 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr12:120142238C>G ENST00000392521.2 - 41 5289 c.5234G>C c.(5233-5235)tGt>tCt p.C1745S CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.C1703S NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1703 CNH. 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) CATGGCTGCACAGATGCAGAG 0.493000 11 31 0 0 0.000673444 0 0 ATP8B1 5205 broad.mit.edu 37 18 55362733 55362733 + Missense_Mutation SNP C C G TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr18:55362733C>G ENST00000536015.1 - 9 849 c.730G>C c.(730-732)Gaa>Caa p.E244Q ATP8B1_ENST00000283684.4_Missense_Mutation_p.E244Q|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA NM_005603.4 NP_005594 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 244 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) TCTGTGATTTCAAGTGACATC 0.313000 15 27 0 0 0.000422831 0 0 ARID1A 8289 broad.mit.edu 37 1 27088659 27088659 + Frame_Shift_Del DEL C C - TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:27088659delC ENST00000324856.7 + 7 2639 c.2268delC c.(2266-2268)aacfs p.N756fs ARID1A_ENST00000457599.2_Frame_Shift_Del_p.N756fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.N373fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 756 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TGCAGAGGAACCCCCAGATGC 0.512 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 16 46 --- --- --- --- PPCS 79717 broad.mit.edu 37 1 42923004 42923014 + Frame_Shift_Del DEL TCTGGGGGCCC TCTGGGGGCCC - TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:42923004_42923014delTCTGGGGGCCC ENST00000372561.3 + 2 602_612 c.595_605delTCTGGGGGCCC c.(595-606)tctgggggcccafs p.SGGP199fs PPCS_ENST00000372562.1_Frame_Shift_Del_p.SGGP26fs|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372556.3_Frame_Shift_Del_p.HLGAH50fs|PPCS_ENST00000455780.1_Frame_Shift_Del_p.SGGP26fs|PPCS_ENST00000372560.3_Frame_Shift_Del_p.SGGP199fs NM_024664.2 NP_078940.2 Q9HAB8 PPCS_HUMAN phosphopantothenoylcysteine synthetase 199 coenzyme biosynthetic process|pantothenate metabolic process cytosol phosphopantothenate--cysteine ligase activity p.G200G(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3) 12 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GATCCAGTCATCTGGGGGCCCACTGCAGGTG 0.483 29 141 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cccfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 2 4 --- --- --- --- CNOT10 25904 broad.mit.edu 37 3 32806176 32806183 + Frame_Shift_Del DEL GGTAAGCG GGTAAGCG - TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr3:32806176_32806183delGGTAAGCG ENST00000328834.5 + 17 2195_2202 c.1879_1886delGGTAAGCG c.(1879-1887)ggtaagcggfs p.GKR627fs CNOT10_ENST00000454516.2_Frame_Shift_Del_p.GKR687fs|CNOT10_ENST00000331889.6_Frame_Shift_Del_p.GKR600fs NM_015442.2 NP_056257.1 Q9H9A5 CNOTA_HUMAN CCR4-NOT transcription complex, subunit 10 627 nuclear-transcribed mRNA poly(A) tail shortening cytosol protein binding p.R629L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3) 23 TTCCCCAGCTGGTAAGCGGGCCCCTCAG 0.553 17 132 --- --- --- --- RXFP3 51289 broad.mit.edu 37 5 33937637 33937637 + Frame_Shift_Del DEL G G - TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr5:33937637delG ENST00000330120.3 + 1 1147 c.792delG c.(790-792)ctgfs p.L264fs NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 264 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 AGTTCTGGCTGGGCCTCTACC 0.627 5 8 --- --- --- --- ANKS1A 23294 broad.mit.edu 37 6 34985261 34985269 + In_Frame_Del DEL AGCAGCAGC AGCAGCAGC - TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr6:34985261_34985269delAGCAGCAGC ENST00000360359.3 + 11 1573_1581 c.1435_1443delAGCAGCAGC c.(1435-1443)agcagcagcdel p.SSS479del ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 479 cytoplasm protein binding p.S479R(1) cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CCACAGGCGGAGCAGCAGCAGCCGGAGCC 0.584 12 42 --- --- --- --- CDKN1A 1026 broad.mit.edu 37 6 36651987 36651988 + Frame_Shift_Ins INS - - T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr6:36651987_36651988insT ENST00000405375.1 + 2 344_345 c.109_110insT c.(109-111)ctafs p.L37fs CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.L37fs|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.L37fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.L71fs NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 37 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 CTGTGATGCGCTAATGGCGGGC 0.663 14 22 --- --- --- --- POLR2J4 84820 broad.mit.edu 37 7 44054564 44054565 + RNA DEL CA CA - TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr7:44054564_44054565delCA ENST00000427076.1 - 0 179 POLR2J4_ENST00000326391.6_RNA|RP5-1165K10.2_ENST00000454572.1_RNA NR_003655.2 CTACCCCCGCCACACACACACA 0.515 2 4 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48947595 48947596 + Frame_Shift_Ins INS - - A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr13:48947595_48947596insA ENST00000267163.4 + 12 1320_1321 c.1182_1183insA c.(1183-1185)caafs p.Q395fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 395 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8)|p.Q395*(3) 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) CAGCAAGTGATCAACCTTCAGA 0.292 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) 19 40 --- --- --- --- SCARNA6 677772 broad.mit.edu 37 16 21598984 21598985 + RNA INS - - T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr16:21598984_21598985insT ENST00000516989.1 + 0 37_38 ccagcagcCCATTTTTTTTTTC 0.366 2 4 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr16:30982809_30982811delTCC ENST00000262519.8 + 13 3813_3815 c.3127_3129delTCC c.(3127-3129)tccdel p.S1058del NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1058 Ser-rich. 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 CAGctcctcatcctcctcctcct 0.547 7 79 --- --- --- --- STRN4 29888 broad.mit.edu 37 19 47241474 47241478 + Frame_Shift_Del DEL TTCAG TTCAG - TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chr19:47241474_47241478delTTCAG ENST00000391910.3 - 3 853_857 c.403_407delCTGAA c.(403-408)ctgaagfs p.LK135fs STRN4_ENST00000539396.1_Frame_Shift_Del_p.LK16fs|STRN4_ENST00000263280.6_Frame_Shift_Del_p.LK135fs Q9NRL3 STRN4_HUMAN striatin, calmodulin binding protein 4 135 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) TGTCCCAAACTTCAGTTTATGATAT 0.483 16 71 --- --- --- --- NAP1L2 4674 broad.mit.edu 37 X 72434236 72434237 + Frame_Shift_Ins INS - - A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f809713-ee0b-4388-9628-e2a8c9083c59 9592afe8-2813-45b3-8486-c996d99561b1 g.chrX:72434236_72434237insA ENST00000373517.3 - 1 447_448 c.92_93insT c.(91-93)ctgfs p.L31fs NAP1L2_ENST00000536638.1_Intron NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 31 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) CACCGCGCTCCAGATGTTCCCC 0.550 10 32 --- --- --- ---