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 ARHGAP4 393 broad.mit.edu 37 X 153184449 153184449 + Missense_Mutation SNP G G T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chrX:153184449G>T ENST00000370028.3 - 8 1046 c.989C>A c.(988-990)gCt>gAt p.A330D ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.A290D|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.A267D|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.A269D NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 290 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCGGCTCTCAGCGGCCGTGTA 0.642000 7 39 0.00198382 0.00214126 1 1 0 IGKV1-8 28942 broad.mit.edu 37 2 89292054 89292054 + RNA SNP A A C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr2:89292054A>C ENST00000495489.1 - 0 271 CACTTTGCAAAGTGGATGCAG 0.493000 6 254 0 0 1 0 0 SLC25A2 83884 broad.mit.edu 37 5 140683125 140683125 + Missense_Mutation SNP T T G TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr5:140683125T>G ENST00000239451.4 - 1 487 c.308A>C c.(307-309)aAg>aCg p.K103T NM_031947.2 NP_114153.1 Q9BXI2 ORNT2_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 103 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) ATCACTCAGCTTTGCCTGCTT 0.577000 8 115 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 132052065 132052065 + Missense_Mutation SNP C C A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr8:132052065C>A ENST00000286355.5 - 1 2607 c.515G>T c.(514-516)cGc>cTc p.R172L ADCY8_ENST00000377928.3_Missense_Mutation_p.R172L NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 172 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.R172H(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CAAGAAATAGCGCTGGTAGAG 0.532000 HNSCC(32;0.087) 15 75 9.16793e-09 1.17626e-08 1 1 0 PRB2 653247 broad.mit.edu 37 12 11546867 11546867 + Missense_Mutation SNP C C A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr12:11546867C>A ENST00000389362.4 - 3 180 c.145G>T c.(145-147)Ggt>Tgt p.G49C PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GATGGGGGACCTTGAGGTTTG 0.552000 27 278 4.06085e-26 5.41447e-26 1 1 0 UBR4 23352 broad.mit.edu 37 1 19420579 19420579 + Missense_Mutation SNP T T C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr1:19420579T>C ENST00000375267.2 - 95 13804 c.13801A>G c.(13801-13803)Atc>Gtc p.I4601V UBR4_ENST00000375254.3_Missense_Mutation_p.I4601V|UBR4_ENST00000375224.1_Missense_Mutation_p.I308V|UBR4_ENST00000375217.2_Missense_Mutation_p.I4594V|UBR4_ENST00000543981.1_Missense_Mutation_p.I265V|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000429347.2_Missense_Mutation_p.I124V|UBR4_ENST00000375226.2_Missense_Mutation_p.I4577V Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 4601 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GTGCTGTTGATCTGGTCCAAG 0.517000 7 31 0 0 1 0 0 ST6GALNAC6 30815 broad.mit.edu 37 9 130658593 130658593 + Silent SNP C C A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr9:130658593C>A ENST00000373146.1 - 3 224 c.45G>T c.(43-45)ctG>ctT p.L15L ST6GALNAC6_ENST00000542456.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Silent_p.L15L|ST6GALNAC6_ENST00000373141.1_5'UTR|ST6GALNAC6_ENST00000373144.3_5'UTR|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Silent_p.L15L Q969X2 SIA7F_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 15 protein glycosylation integral to Golgi membrane|plasma membrane endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GCCCTGGGGGCAGGGATGTGG 0.567000 4 71 0.014758 0.0152052 1 1 0 MCL1 4170 broad.mit.edu 37 1 150550932 150550932 + Missense_Mutation SNP C C G TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr1:150550932C>G ENST00000369026.2 - 2 783 c.724G>C c.(724-726)Gat>Cat p.D242H MCL1_ENST00000307940.3_Intron|MCL1_ENST00000464132.1_5'UTR NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 242 anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GATTTCACATCGTCTTCGTTT 0.493000 11 125 0 0 1 0 0 OR2D3 120775 broad.mit.edu 37 11 6942471 6942471 + Missense_Mutation SNP G G C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr11:6942471G>C ENST00000317834.3 + 1 267 c.239G>C c.(238-240)aGa>aCa p.R80T NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TTTTTTCTTAGAAATCTCTCC 0.408000 8 143 0 0 1 0 0 SAMD3 154075 broad.mit.edu 37 6 130497046 130497046 + Silent SNP G G T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr6:130497046G>T ENST00000532763.1 - 7 885 c.756C>A c.(754-756)ggC>ggA p.G252G SAMD3_ENST00000368134.2_Silent_p.G254G|SAMD3_ENST00000457563.2_Silent_p.G278G|SAMD3_ENST00000439090.2_Silent_p.G254G|SAMD3_ENST00000437477.2_Silent_p.G254G Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 254 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TCCTTGTCTGGCCTCTTCGGT 0.353000 8 241 0.00307968 0.00329792 1 1 0 BTNL8 79908 broad.mit.edu 37 5 180338426 180338426 + Missense_Mutation SNP G G A rs146970792 byFrequency TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr5:180338426G>A ENST00000231229.4 + 3 719 c.485G>A c.(484-486)cGg>cAg p.R162Q BTNL8_ENST00000508408.1_Missense_Mutation_p.R162Q|BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.R46Q|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.R37Q|BTNL8_ENST00000340184.4_Missense_Mutation_p.R162Q NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 162 Ig-like V-type 2. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGTTCCCCCGGCCCACAGCG 0.532000 5 315 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 180008414 180008414 + Missense_Mutation SNP C C A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr2:180008414C>A ENST00000428443.3 - 9 1070 c.754G>T c.(754-756)Gat>Tat p.D252Y NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 252 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) CGGAGTGAATCTAATAATTTC 0.458000 12 127 6.40141e-05 7.3779e-05 1 1 0 GPR1 2825 broad.mit.edu 37 2 207041566 207041566 + Missense_Mutation SNP A A T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr2:207041566A>T ENST00000407325.2 - 3 768 c.406T>A c.(406-408)Tat>Aat p.Y136N GPR1_ENST00000437420.1_Missense_Mutation_p.Y136N NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3 NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2 P46091 GPR1_HUMAN G protein-coupled receptor 1 136 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 18 Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888) UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184) AAGTGGATATAGTGGTCCAGG 0.458000 5 83 0 0 1 0 0 KANTR 102723508 broad.mit.edu 37 X 53171997 53171997 + RNA SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chrX:53171997G>A ENST00000604849.1 + 0 560 CCACATGCTTGCAGTCCATTT 0.502000 4 14 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186014918 186014918 + Missense_Mutation SNP C C T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr1:186014918C>T ENST00000271588.4 + 41 6632 c.6403C>T c.(6403-6405)Ctt>Ttt p.L2135F HMCN1_ENST00000367492.2_Missense_Mutation_p.L2135F NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2135 Ig-like C2-type 19. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CCCACCTACTCTTACTTGGTT 0.408000 4 85 0 0 1 0 0 HSF5 124535 broad.mit.edu 37 17 56540312 56540312 + Missense_Mutation SNP G G C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr17:56540312G>C ENST00000323777.3 - 4 1482 c.1373C>G c.(1372-1374)cCt>cGt p.P458R NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 458 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) GATGTACTCAGGTGACTGTGG 0.483000 7 187 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11097625 11097625 + RNA SNP G G C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr21:11097625G>C ENST00000470054.1 - 0 244 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tggagcagctgggcagacaat 0.557000 5 83 0 0 1 0 0 EXOC6 54536 broad.mit.edu 37 10 94675516 94675516 + Splice_Site SNP C C T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr10:94675516C>T ENST00000371552.4 + 7 679 c.648_splice c.e7-1 p.A217_splice EXOC6_ENST00000497262.1_3'UTR|EXOC6_ENST00000260762.6_Splice_Site_p.A222_splice|EXOC6_ENST00000371547.4_Splice_Site_p.A238_splice|EXOC6_ENST00000443748.2_Splice_Site_p.A222_splice NM_001013848.2 NP_001013870.1 Q8TAG9 EXOC6_HUMAN exocyst complex component 6 222 protein transport|vesicle docking involved in exocytosis exocyst cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) TCAAAATAGGCACAGCATCAG 0.279000 12 69 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540081 169540081 + Silent SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr3:169540081G>A ENST00000340806.6 + 1 372 c.372G>A c.(370-372)cgG>cgA p.R124R NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 124 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 GCGAGCTCCGGCTCTACCAGA 0.582000 8 65 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102825259 102825259 + Missense_Mutation SNP C C T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr11:102825259C>T ENST00000260302.3 - 3 467 c.439G>A c.(439-441)Gat>Aat p.D147N MMP13_ENST00000340273.4_Missense_Mutation_p.D147N NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 147 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) GGAGTTACATCGGACCAAACT 0.353000 5 74 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6215775 6215775 + Missense_Mutation SNP C C T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr18:6215775C>T ENST00000400104.3 - 11 1044 c.844G>A c.(844-846)Gca>Aca p.A282T L3MBTL4_ENST00000535782.1_Missense_Mutation_p.A95T|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.A282T|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.A282T|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.A282T Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 282 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) GCAGGAACTGCATTGGTTTGA 0.343000 8 86 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 5 196 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57598229 57598229 + Missense_Mutation SNP A A G TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr12:57598229A>G ENST00000243077.3 + 71 11454 c.10988A>G c.(10987-10989)aAc>aGc p.N3663S NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3663 LDL-receptor class A 29. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CAGTGCAACAACACCTTGTGC 0.612000 8 50 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179628974 179628974 + Silent SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr2:179628974G>A ENST00000589042.1 - 43 10268 c.10044C>T c.(10042-10044)atC>atT p.I3348I TTN_ENST00000342992.6_Silent_p.I3348I|TTN_ENST00000460472.2_Silent_p.I3302I|TTN_ENST00000591111.1_Silent_p.I3348I|TTN_ENST00000342175.6_Silent_p.I3302I|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Silent_p.I3348I|TTN_ENST00000359218.5_Silent_p.I3302I|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3063 Ig-like 20. 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) GAAGCGGGGTGATGATGGCAG 0.463000 5 130 0 0 1 0 0 GPR63 81491 broad.mit.edu 37 6 97246676 97246676 + Missense_Mutation SNP C C A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr6:97246676C>A ENST00000229955.3 - 2 1277 c.932G>T c.(931-933)cGt>cTt p.R311L GPR63_ENST00000417980.1_Missense_Mutation_p.R311L NM_001143957.2|NM_030784.3 NP_001137429.1|NP_110411.1 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 311 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) GGTGAAGGCACGTGTTTTAAA 0.478000 6 61 0.00198382 0.00214126 1 1 0 TDRD5 163589 broad.mit.edu 37 1 179609542 179609542 + Missense_Mutation SNP G G T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr1:179609542G>T ENST00000444136.1 + 11 2012 c.1762G>T c.(1762-1764)Gct>Tct p.A588S TDRD5_ENST00000367614.1_Missense_Mutation_p.A588S|TDRD5_ENST00000294848.8_Missense_Mutation_p.A588S NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 588 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TCCAGCTCAGGCTATCCCTTG 0.413000 6 125 8.12818e-05 9.28935e-05 1 1 0 STX5 6811 broad.mit.edu 37 11 62592568 62592568 + Missense_Mutation SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr11:62592568G>A ENST00000294179.3 - 8 772 c.619C>T c.(619-621)Cgg>Tgg p.R207W STX5_ENST00000394690.1_Missense_Mutation_p.R153W|STX5_ENST00000377897.4_Missense_Mutation_p.R207W|STX5_ENST00000541317.1_Missense_Mutation_p.R111W NM_001244666.1|NM_003164.4 NP_001231595.1|NP_003155.2 Q13190 STX5_HUMAN syntaxin 5 207 intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 18 TGCTCTCTCCGGCTCCTCTGC 0.582000 9 61 0 0 1 0 0 ITGBL1 9358 broad.mit.edu 37 13 102220053 102220053 + Translation_Start_Site SNP A A T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr13:102220053A>T ENST00000545560.2 + 0 269 ITGBL1_ENST00000376180.3_Missense_Mutation_p.H107L|ITGBL1_ENST00000376162.3_Missense_Mutation_p.H14L NM_001271754.1 NP_001258683.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCCCCAGGCCATGGTAAGTGT 0.433000 9 134 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76461448 76461448 + Missense_Mutation SNP C C A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr16:76461448C>A ENST00000307431.8 + 5 872 c.487C>A c.(487-489)Ccc>Acc p.P163T CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P139T|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P167T|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P163T|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 164 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GGAATGGAACCCCAAGGGCAG 0.413000 12 91 6.40141e-05 7.3779e-05 1 1 0 UNC79 57578 broad.mit.edu 37 14 94120108 94120108 + Missense_Mutation SNP C C T rs148490393 TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr14:94120108C>T ENST00000553484.1 + 38 6441 c.6287C>T c.(6286-6288)gCg>gTg p.A2096V UNC79_ENST00000256339.4_Missense_Mutation_p.A1897V|UNC79_ENST00000555664.1_Missense_Mutation_p.A2035V|UNC79_ENST00000393151.2_Missense_Mutation_p.A2074V Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2074 integral to membrane p.A1897V(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CCCGGCAATGCGGCGGGGGTG 0.532000 5 331 0 0 1 0 0 ANKRD30BL 554226 broad.mit.edu 37 2 132912254 132912254 + Missense_Mutation SNP C C A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr2:132912254C>A ENST00000409867.1 - 4 844 c.595G>T c.(595-597)Gca>Tca p.A199S ANKRD30BL_ENST00000470729.1_5'UTR ankyrin repeat domain 30B-like endometrium(1)|kidney(3) 4 TTATCAACTGCATTTGCATTT 0.318000 3 21 0.004672 0.004964 1 1 0 MGAT4C 25834 broad.mit.edu 37 12 86373732 86373732 + Missense_Mutation SNP C C A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr12:86373732C>A ENST00000604798.1 - 8 1976 c.772G>T c.(772-774)Ggc>Tgc p.G258C MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.G287C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.G258C|MGAT4C_ENST00000332156.1_Missense_Mutation_p.G258C|MGAT4C_ENST00000552808.2_Missense_Mutation_p.G258C|MGAT4C_ENST00000548651.1_Missense_Mutation_p.G258C Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 258 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CCAATGTAGCCAAGCTTAGAG 0.363000 6 103 1.06961e-07 1.34282e-07 1 1 0 ZNF611 81856 broad.mit.edu 37 19 53210028 53210028 + Missense_Mutation SNP C C T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr19:53210028C>T ENST00000543227.1 - 6 554 c.280G>A c.(280-282)Gaa>Aaa p.E94K ZNF611_ENST00000453741.2_Missense_Mutation_p.E25K|ZNF611_ENST00000319783.1_Missense_Mutation_p.E94K|ZNF611_ENST00000540744.1_Missense_Mutation_p.E94K|ZNF611_ENST00000595798.1_Missense_Mutation_p.E25K|ZNF611_ENST00000602162.1_Missense_Mutation_p.E25K|ZNF611_ENST00000600943.1_Silent_p.*76* NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 94 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TGATGACTTTCATGTCTTTGC 0.388000 10 428 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67129853 67129853 + Silent SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr17:67129853G>A ENST00000284425.2 - 6 894 c.720C>T c.(718-720)ctC>ctT p.L240L NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 240 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) TTGTTACATTGAGTGATATAA 0.308000 9 107 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55036772 55036772 + Silent SNP A A C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr11:55036772A>C ENST00000417545.2 + 5 719 c.633A>C c.(631-633)gcA>gcC p.A211A NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 195 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CGCTCAGGGCAGGGCCCATCA 0.498000 9 87 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21351028 21351028 + Missense_Mutation SNP C C T rs141161152 TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr22:21351028C>T ENST00000215739.8 + 19 2622 c.2263C>T c.(2263-2265)Cgg>Tgg p.R755W LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.R736W NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 755 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CTACAACAACCGGCTGCAGGC 0.617000 10 50 0 0 1 0 0 PABPC1 26986 broad.mit.edu 37 8 101718959 101718959 + Missense_Mutation SNP C C A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr8:101718959C>A ENST00000318607.5 - 11 2650 c.1522G>T c.(1522-1524)Gtt>Ttt p.V508F PABPC1_ENST00000522387.1_Missense_Mutation_p.V476F|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Missense_Mutation_p.V463F NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 508 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) TACTGTGGAACGGTGCGGACA 0.438000 15 136 1.15088e-07 1.41008e-07 1 1 0 SPANXN2 494119 broad.mit.edu 37 X 142795238 142795238 + Missense_Mutation SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chrX:142795238G>A ENST00000370498.1 - 2 1193 c.440C>T c.(439-441)tCt>tTt p.S147F NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 147 p.S147F(1)|p.K23K(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) CTCCTGTGAAGATCCTTCAGA 0.532000 40 281 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76893069 76893069 + Missense_Mutation SNP G G C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr11:76893069G>C ENST00000409709.3 + 24 3249 c.2977G>C c.(2977-2979)Gag>Cag p.E993Q MYO7A_ENST00000458637.2_Missense_Mutation_p.E993Q|MYO7A_ENST00000409893.1_Missense_Mutation_p.E993Q|MYO7A_ENST00000409619.2_Missense_Mutation_p.E982Q NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 993 actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TGACGAGGATGAGGAGGACCT 0.607000 8 61 0 0 1 0 0 TARS 6897 broad.mit.edu 37 5 33461032 33461032 + Missense_Mutation SNP T T C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr5:33461032T>C ENST00000265112.3 + 12 1587 c.1276T>C c.(1276-1278)Tcc>Ccc p.S426P TARS_ENST00000502553.1_Missense_Mutation_p.S426P|TARS_ENST00000414361.2_Missense_Mutation_p.S305P|TARS_ENST00000541634.1_Missense_Mutation_p.S322P|TARS_ENST00000455217.2_Missense_Mutation_p.S459P NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 426 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) TCGGCCAAGGTCCTGGCGAGA 0.458000 7 108 0 0 1 0 0 MYNN 55892 broad.mit.edu 37 3 169496709 169496709 + Silent SNP A A G TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr3:169496709A>G ENST00000349841.5 + 3 1083 c.420A>G c.(418-420)caA>caG p.Q140Q MYNN_ENST00000392733.1_Silent_p.Q140Q|MYNN_ENST00000356716.4_Silent_p.Q140Q|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Silent_p.Q140Q NM_018657.4 NP_061127.1 Q9NPC7 MYNN_HUMAN myoneurin 140 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) AATTGAATCAACAGACTTGTC 0.343000 7 77 0 0 1 0 0 ADD3 120 broad.mit.edu 37 10 111881990 111881990 + Missense_Mutation SNP T T A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr10:111881990T>A ENST00000277900.8 + 9 1448 c.1083T>A c.(1081-1083)caT>caA p.H361Q ADD3_ENST00000356080.4_Missense_Mutation_p.H361Q|ADD3_ENST00000360162.3_Missense_Mutation_p.H361Q NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 361 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) TGGGTTCCCATCAAAAATGGA 0.418000 4 136 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23509628 23509628 + Missense_Mutation SNP G G T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr5:23509628G>T ENST00000296682.3 + 3 301 c.119G>T c.(118-120)tGg>tTg p.W40L NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 40 KRAB-related. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AAGGAAGAATGGGCAGAGATG 0.423000 HNSCC(3;0.000094) 13 226 2.61681e-11 3.42199e-11 1 1 0 SLC25A32 81034 broad.mit.edu 37 8 104419870 104419870 + Nonsense_Mutation SNP G G T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr8:104419870G>T ENST00000297578.4 - 2 463 c.297C>A c.(295-297)taC>taA p.Y99* SLC25A32_ENST00000543107.1_5'UTR NM_030780.3 NP_110407.2 Q9H2D1 MFTC_HUMAN solute carrier family 25 (mitochondrial folate carrier), member 32 99 folic acid metabolic process|mitochondrial transport integral to membrane|mitochondrial inner membrane binding|folic acid transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 9 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) Folic Acid(DB00158) ACAAGAAAAAGTAGAGTCCCC 0.343000 18 170 6.49762e-13 8.57938e-13 1 1 0 UBD 10537 broad.mit.edu 37 6 29523954 29523954 + Silent SNP G G T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr6:29523954G>T ENST00000377050.4 - 2 424 c.201C>A c.(199-201)ggC>ggA p.G67G GABBR1_ENST00000355973.3_3'UTR NM_006398.3 NP_006389.2 O15205 UBD_HUMAN ubiquitin D 67 Ubiquitin 1. aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process aggresome|cytoplasm|nucleus proteasome binding kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 CTTTGTCAATGCCATAAGATG 0.498000 8 54 0.000157383 0.000175444 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168103427 168103427 + Missense_Mutation SNP C C A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr2:168103427C>A ENST00000409195.1 + 9 5614 c.5525C>A c.(5524-5526)aCa>aAa p.T1842K XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T1620K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1842K|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1667 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GGTGATTTGACATCAACCCTA 0.388000 14 109 4.3838e-07 5.27608e-07 1 1 0 FAM86JP 100125556 broad.mit.edu 37 3 125647387 125647387 + RNA SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr3:125647387G>A ENST00000485843.1 + 0 532 NR_024251.1 ACCAGAAACTGTTTCCCTATG 0.502000 6 189 0 0 1 0 0 DARC 2532 broad.mit.edu 37 1 159175698 159175698 + Missense_Mutation SNP C C A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr1:159175698C>A ENST00000537147.1 + 3 1312 c.469C>A c.(469-471)Ctg>Atg p.L157M DARC_ENST00000368122.2_Missense_Mutation_p.L157M|DARC_ENST00000368121.2_Missense_Mutation_p.L159M Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 157 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) GGGCCACAGACTGGGTGCAGG 0.642000 4 38 1 1 1 1 0 SLC13A1 6561 broad.mit.edu 37 7 122755642 122755642 + Missense_Mutation SNP A A T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr7:122755642A>T ENST00000194130.2 - 15 1757 c.1718T>A c.(1717-1719)aTt>aAt p.I573N SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 573 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) CATGGGTACAATCCAAGTACA 0.433000 10 87 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46305631 46305631 + Splice_Site SNP T T G TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr4:46305631T>G ENST00000510861.1 - 8 877 c.e8-2 GABRA2_ENST00000515082.1_Splice_Site|GABRA2_ENST00000356504.1_Splice_Site|GABRA2_ENST00000514090.1_Splice_Site|GABRA2_ENST00000507069.1_Splice_Site|GABRA2_ENST00000540012.1_Splice_Site|GABRA2_ENST00000381620.4_Splice_Site P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TATATTCACCTGGAAGAAAAA 0.328000 4 53 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3216729 3216729 + Silent SNP A A G TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr8:3216729A>G ENST00000520002.1 - 22 3807 c.3252T>C c.(3250-3252)ctT>ctC p.L1084L CSMD1_ENST00000542608.1_Silent_p.L1083L|CSMD1_ENST00000539096.1_Silent_p.L1083L|CSMD1_ENST00000537824.1_Silent_p.L1083L|CSMD1_ENST00000602723.1_Silent_p.L1084L|CSMD1_ENST00000400186.3_Silent_p.L1084L|CSMD1_ENST00000602557.1_Silent_p.L1084L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1084 Sushi 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCAGGCAGGTAAGCTTGGTGG 0.557000 10 86 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751433 19751433 + Silent SNP C C G TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr13:19751433C>G ENST00000400113.3 - 4 794 c.690G>C c.(688-690)ctG>ctC p.L230L NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 230 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TCTGCCCAATCAGGCGATTGA 0.557000 11 172 0 0 1 0 0 BCKDHB 594 broad.mit.edu 37 6 80838926 80838926 + Missense_Mutation SNP T T C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr6:80838926T>C ENST00000545529.1 + 3 351 c.323T>C c.(322-324)gTt>gCt p.V108A BCKDHB_ENST00000320393.6_Missense_Mutation_p.V108A|BCKDHB_ENST00000486968.1_3'UTR|BCKDHB_ENST00000369760.4_Missense_Mutation_p.V108A|BCKDHB_ENST00000356489.5_Missense_Mutation_p.V108A P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1, beta polypeptide 108 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1) 15 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) AGATGCACTGTTGGCTTGCGA 0.264000 4 199 0 0 1 0 0 L3HYPDH 112849 broad.mit.edu 37 14 59942889 59942889 + Missense_Mutation SNP T T C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr14:59942889T>C ENST00000247194.4 - 3 835 c.722A>G c.(721-723)tAt>tGt p.Y241C L3HYPDH_ENST00000487285.1_Missense_Mutation_p.Y70C NM_144581.1 NP_653182.1 L-3-hydroxyproline dehydratase (trans-) TATAGTTCCATATAAAAAGGC 0.284000 8 73 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5416179 5416179 + Nonsense_Mutation SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr18:5416179G>A ENST00000341928.2 - 13 2045 c.1705C>T c.(1705-1707)Caa>Taa p.Q569* EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.Q569*|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 569 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 GCCACATCTTGATCCCCTAGG 0.572000 6 106 0 0 1 0 0 PITPNM3 83394 broad.mit.edu 37 17 6441364 6441364 + Missense_Mutation SNP G G C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr17:6441364G>C ENST00000262483.8 - 2 148 c.61C>G c.(61-63)Cga>Gga p.R21G ACKR6_ENST00000421306.3_Missense_Mutation_p.R21G NM_031220.3 NP_112497.2 AGGACATTTCGAAGGTGCCAG 0.547000 12 21 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 7 184 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70504623 70504623 + Missense_Mutation SNP C C T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr1:70504623C>T ENST00000310961.5 + 22 3435 c.3017C>T c.(3016-3018)cCa>cTa p.P1006L LRRC7_ENST00000035383.5_Missense_Mutation_p.P1001L|LRRC7_ENST00000415775.2_Missense_Mutation_p.P285L Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1001 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CAGTCAGTCCCAATGCTGGAT 0.468000 4 63 0 0 1 0 0 MEX3A 92312 broad.mit.edu 37 1 156047275 156047275 + Missense_Mutation SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr1:156047275G>A ENST00000532414.2 - 2 652 c.653C>T c.(652-654)cCt>cTt p.P218L MEX3A_ENST00000442784.1_5'UTR NM_001093725.1 NP_001087194.1 A1L020 MEX3A_HUMAN mex-3 RNA binding family member A 218 cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 Hepatocellular(266;0.158)|all_neural(408;0.195) GGGCAGAGCAGGAGCCACACC 0.667000 4 25 0 0 1 0 0 ARL6IP4 51329 broad.mit.edu 37 12 123467101 123467101 + Silent SNP C C T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr12:123467101C>T ENST00000392435.2 + 5 1182 c.985C>T c.(985-987)Ctg>Ttg p.L329L ARL6IP4_ENST00000315580.5_Intron|ARL6IP4_ENST00000357866.4_Intron|ARL6IP4_ENST00000439686.2_Intron|ARL6IP4_ENST00000426960.2_Intron|ARL6IP4_ENST00000454885.2_Intron|ARL6IP4_ENST00000453766.2_Intron|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000543566.1_Intron|ARL6IP4_ENST00000412505.2_Intron Q66PJ3 AR6P4_HUMAN ADP-ribosylation-like factor 6 interacting protein 4 0 RNA splicing nucleus all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107) TGTGGCCCCTCTGCCTGCCAT 0.587000 4 55 0 0 1 0 0 CNTLN 54875 broad.mit.edu 37 9 17330664 17330664 + Missense_Mutation SNP C C T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr9:17330664C>T ENST00000380647.3 + 9 1460 c.1376C>T c.(1375-1377)aCg>aTg p.T459M CNTLN_ENST00000262360.5_Missense_Mutation_p.T459M|CNTLN_ENST00000425824.1_Missense_Mutation_p.T459M Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 459 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) AGCTTAGAAACGTTAATGGTT 0.294000 12 195 0 0 1 0 0 RBM25 58517 broad.mit.edu 37 14 73538409 73538409 + Silent SNP G G T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr14:73538409G>T ENST00000261973.7 + 2 345 c.60G>T c.(58-60)ggG>ggT p.G20G RBM25_ENST00000540173.1_Silent_p.G20G|RBM25_ENST00000527432.1_Silent_p.G20G|RBM25_ENST00000526754.1_Silent_p.G20G|RBM25_ENST00000525321.1_Silent_p.G20G NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 20 apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) TCCCACCAGGGATCCCACCCC 0.453000 5 77 0.014758 0.0152052 1 1 0 SPATA7 55812 broad.mit.edu 37 14 88892747 88892747 + Missense_Mutation SNP A A G TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr14:88892747A>G ENST00000556553.1 + 6 1007 c.448A>G c.(448-450)Agt>Ggt p.S150G SPATA7_ENST00000356583.5_Missense_Mutation_p.S150G|SPATA7_ENST00000045347.7_Missense_Mutation_p.S182G|SPATA7_ENST00000393545.4_Missense_Mutation_p.S182G Q9P0W8 SPAT7_HUMAN spermatogenesis associated 7 182 response to stimulus|visual perception cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 CTCCCCGTCCAGTGTGGATTA 0.512000 17 123 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906037 164906037 + Missense_Mutation SNP C C A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr3:164906037C>A ENST00000475390.1 - 2 3025 c.2582G>T c.(2581-2583)cGc>cTc p.R861L SLITRK3_ENST00000241274.3_Missense_Mutation_p.R861L O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 861 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CTCATGGTGGCGGAACCCTGC 0.582000 HNSCC(40;0.11) 6 96 0.0215528 0.0220389 1 1 0 PTPRK 5796 broad.mit.edu 37 6 128306869 128306869 + Missense_Mutation SNP C C T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr6:128306869C>T ENST00000368227.3 - 23 3665 c.3299G>A c.(3298-3300)tGc>tAc p.C1100Y PTPRK_ENST00000368226.4_Missense_Mutation_p.C1083Y|PTPRK_ENST00000368215.3_Missense_Mutation_p.C1082Y|PTPRK_ENST00000368213.5_Missense_Mutation_p.C1089Y|PTPRK_ENST00000368207.3_Missense_Mutation_p.C1115Y|PTPRK_ENST00000532331.1_Missense_Mutation_p.C1105Y|PTPRK_ENST00000368210.3_Missense_Mutation_p.C1101Y Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1082 Tyrosine-protein phosphatase 1. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CACTTACCTGCAATGTACAAC 0.468000 5 50 0 0 1 0 0 FAM86JP 100125556 broad.mit.edu 37 3 125647396 125647396 + RNA SNP T T C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr3:125647396T>C ENST00000485843.1 + 0 541 NR_024251.1 TGTTTCCCTATGAAGAGCACT 0.502000 6 193 0 0 1 0 0 DLG4 1742 broad.mit.edu 37 17 7099579 7099579 + Missense_Mutation SNP C C A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr17:7099579C>A ENST00000399510.2 - 13 2242 c.1390G>T c.(1390-1392)Gcg>Tcg p.A464S DLG4_ENST00000302955.6_Missense_Mutation_p.A418S|DLG4_ENST00000399506.2_Missense_Mutation_p.A421S NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 421 SH3. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 CGCAGGGACGCAGTCCCTGAG 0.602000 6 67 2.7689e-08 3.51934e-08 1 1 0 ROCK1P1 727758 broad.mit.edu 37 18 117158 117158 + RNA SNP A A G TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr18:117158A>G ENST00000576266.1 + 0 383 CCTACACTCTACCACTTTCCT 0.438000 5 33 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135328051 135328051 + Missense_Mutation SNP A A T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr7:135328051A>T ENST00000285968.6 + 39 5530 c.5504A>T c.(5503-5505)cAg>cTg p.Q1835L NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 1835 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 AGTCATCGACAGAGTGTCAGC 0.448000 10 77 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584423 82584423 + Missense_Mutation SNP C C A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr7:82584423C>A ENST00000423517.2 - 5 6183 c.5846G>T c.(5845-5847)gGg>gTg p.G1949V PCLO_ENST00000333891.8_Missense_Mutation_p.G1949V NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1880 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 TATTAGCATCCCACCATACAA 0.368000 4 70 0.150653 0.151769 1 1 0 DNM1P47 100216544 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 4 27 0 0 1 0 0 NRDE2 55051 broad.mit.edu 37 14 90755014 90755014 + Missense_Mutation SNP C C T rs149141901 byFrequency TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr14:90755014C>T ENST00000354366.3 - 11 2937 c.2705G>A c.(2704-2706)cGc>cAc p.R902H NRDE2_ENST00000357904.3_Missense_Mutation_p.R671H NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing GCTAATTAGGCGGCTACAGGA 0.483000 5 54 0 0 1 0 0 HLA-V 352962 broad.mit.edu 37 6 29761676 29761676 + RNA SNP C C G TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr6:29761676C>G ENST00000457107.1 + 0 902 gagagggtttcatattcaaga 0.493000 3 27 0 0 1 0 0 S1PR1 1901 broad.mit.edu 37 1 101705578 101705578 + Silent SNP C C T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr1:101705578C>T ENST00000305352.6 + 2 1413 c.1038C>T c.(1036-1038)gcC>gcT p.A346A NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 346 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 CCATCATCGCCGGCATGGAAT 0.552000 10 166 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126372252 126372252 + Missense_Mutation SNP C C A rs61163957 TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr4:126372252C>A ENST00000394329.3 + 9 10094 c.10081C>A c.(10081-10083)Ctt>Att p.L3361I FAT4_ENST00000335110.5_Missense_Mutation_p.L1659I NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3361 Cadherin 32. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L3361V(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TTCTGGAATTCTTGATCGAGA 0.403000 12 162 4.3838e-07 5.27608e-07 1 1 0 APC 324 broad.mit.edu 37 5 112174647 112174647 + Missense_Mutation SNP A A G TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr5:112174647A>G ENST00000457016.1 + 16 3736 c.3356A>G c.(3355-3357)cAt>cGt p.H1119R CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.H1119R|APC_ENST00000257430.4_Missense_Mutation_p.H1119R P25054 APC_HUMAN adenomatous polyposis coli 1119 Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GGTTCTAATCATGGAATTAAT 0.408000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 9 80 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29912156 29912156 + Missense_Mutation SNP C C A rs149871311 TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr6:29912156C>A ENST00000396634.1 + 6 1218 c.877C>A c.(877-879)Ccc>Acc p.P293T HLA-A_ENST00000376809.5_Missense_Mutation_p.P293T|HLA-A_ENST00000376802.2_Missense_Mutation_p.P293T|HLA-A_ENST00000376806.5_Missense_Mutation_p.P293T P30443 1A01_HUMAN major histocompatibility complex, class I, A 293 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCTGCCCAAGCCCCTCACCCT 0.602000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 11 90 1.08611e-07 1.34282e-07 1 1 0 SHC4 399694 broad.mit.edu 37 15 49148244 49148244 + Missense_Mutation SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr15:49148244G>A ENST00000332408.4 - 8 1576 c.1148C>T c.(1147-1149)cCa>cTa p.P383L SHC4_ENST00000537958.1_Missense_Mutation_p.P97L|SHC4_ENST00000396535.3_Missense_Mutation_p.P140L NM_203349.3 NP_976224.3 Q6S5L8 SHC4_HUMAN SHC (Src homology 2 domain containing) family, member 4 383 CH1. intracellular signal transduction cell junction|postsynaptic membrane breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) ACCTACTGGTGGCTGCTTCCC 0.438000 9 135 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156741411 156741411 + Silent SNP C C T rs139943836 by1000genomes TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr5:156741411C>T ENST00000347377.6 + 12 1601 c.1170C>T c.(1168-1170)ttC>ttT p.F390F CYFIP2_ENST00000377576.3_Silent_p.F390F|CYFIP2_ENST00000318218.6_Silent_p.F390F|CYFIP2_ENST00000522463.1_Silent_p.F194F|CYFIP2_ENST00000541131.1_Silent_p.F315F|CYFIP2_ENST00000521420.1_Silent_p.F364F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Silent_p.F64F NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 390 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCGAGCTCTTCGACCTAGCCC 0.597000 4 69 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141459330 141459330 + Missense_Mutation SNP G G T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr2:141459330G>T ENST00000389484.3 - 40 7358 c.6387C>A c.(6385-6387)aaC>aaA p.N2129K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2129 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCTCCTTCAGGTTGACTCCAA 0.398000 TSP Lung(27;0.18) 11 131 0.00010058 0.000113991 1 1 0 LGI2 55203 broad.mit.edu 37 4 25005442 25005442 + Silent SNP C C T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr4:25005442C>T ENST00000382114.4 - 8 1454 c.1269G>A c.(1267-1269)gtG>gtA p.V423V NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 423 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) GGAAGCTCTTCACAGCCAGTA 0.537000 20 393 0 0 1 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72489903 72489903 + Missense_Mutation SNP C C A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr10:72489903C>A ENST00000373208.1 + 6 1000 c.1000C>A c.(1000-1002)Cag>Aag p.Q334K ADAMTS14_ENST00000373207.1_Missense_Mutation_p.Q334K NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 334 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CAGCCTGGAGCAGGTGTGTCG 0.667000 10 63 1.08611e-07 1.34282e-07 1 1 0 ARSK 153642 broad.mit.edu 37 5 94939042 94939042 + Missense_Mutation SNP A A C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr5:94939042A>C ENST00000380009.4 + 8 1628 c.1423A>C c.(1423-1425)Aaa>Caa p.K475Q NM_198150.2 NP_937793.1 Q6UWY0 ARSK_HUMAN arylsulfatase family, member K 475 extracellular region arylsulfatase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1) 16 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) AAACTACCCTAAAGTTTCTGC 0.333000 7 56 0 0 1 0 0 TCEAL2 140597 broad.mit.edu 37 X 101381930 101381930 + Missense_Mutation SNP A A G TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chrX:101381930A>G ENST00000372780.1 + 3 347 c.128A>G c.(127-129)aAc>aGc p.N43S TCEAL2_ENST00000329035.2_Missense_Mutation_p.N43S NM_080390.3 NP_525129.1 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 AAGTTAGAAAACGAGGGAAAC 0.453000 6 34 0 0 1 0 0 FNIP1 96459 broad.mit.edu 37 5 130987629 130987629 + Missense_Mutation SNP T T A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr5:130987629T>A ENST00000307968.7 - 15 3087 c.3088A>T c.(3088-3090)Act>Tct p.T1030S FNIP1_ENST00000510461.1_Missense_Mutation_p.T1058S|FNIP1_ENST00000307954.8_Missense_Mutation_p.T1013S|FNIP1_ENST00000514667.1_Intron NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) ACTTGAACAGTCCATTTATCC 0.383000 9 98 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24104219 24104219 + Missense_Mutation SNP A A G TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr16:24104219A>G ENST00000303531.7 + 6 789 c.637A>G c.(637-639)Aaa>Gaa p.K213E PRKCB_ENST00000321728.7_Missense_Mutation_p.K213E|PRKCB_ENST00000482000.1_3'UTR NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 213 C2. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) ACAGAAGACCAAAACCATCAA 0.458000 5 111 0 0 1 0 0 LTBP4 8425 broad.mit.edu 37 19 41133153 41133153 + Missense_Mutation SNP A A T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr19:41133153A>T ENST00000308370.7 + 32 4457 c.4457A>T c.(4456-4458)gAg>gTg p.E1486V LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.E1449V|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.E1419V|LTBP4_ENST00000545697.1_Missense_Mutation_p.E854V NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 1487 Pro-rich. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGCGAATCTGAGGCTCCTGCG 0.701000 5 20 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88423650 88423650 + Missense_Mutation SNP G G T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr15:88423650G>T ENST00000394480.1 - 18 2464 c.2143C>A c.(2143-2145)Cac>Aac p.H715N NTRK3_ENST00000360948.2_Missense_Mutation_p.H729N|NTRK3_ENST00000557856.1_Missense_Mutation_p.H707N|NTRK3_ENST00000355254.2_Missense_Mutation_p.H715N|NTRK3_ENST00000357724.2_Missense_Mutation_p.H721N NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 729 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) AGCATGGTGTGTCCTCCCACC 0.507000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 5 28 0.000602214 0.000665863 1 1 0 ZNF608 57507 broad.mit.edu 37 5 123982540 123982540 + Silent SNP C C T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr5:123982540C>T ENST00000306315.5 - 4 3972 c.3537G>A c.(3535-3537)gaG>gaA p.E1179E ZNF608_ENST00000504926.1_Silent_p.E752E NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1179 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) ATTTACCTGTCTCCTCAGTTT 0.473000 6 151 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144098481 144098481 + Missense_Mutation SNP G G T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr7:144098481G>T ENST00000467773.1 - 4 501 c.502C>A c.(502-504)Cac>Aac p.H168N NOBOX_ENST00000483238.1_Missense_Mutation_p.H168N|NOBOX_ENST00000223140.5_Missense_Mutation_p.H83N NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 168 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) CTGTCTTTGTGGGGAGCCCTG 0.617000 4 45 0.150653 0.151769 1 1 0 MFAP3L 9848 broad.mit.edu 37 4 170913248 170913248 + Missense_Mutation SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr4:170913248G>A ENST00000361618.3 - 3 818 c.511C>T c.(511-513)Cgc>Tgc p.R171C RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.R68C NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 171 integral to membrane|plasma membrane p.R171S(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) ATGCACAGGCGGGTGATATTG 0.512000 14 112 0 0 1 0 0 MSANTD2 79684 broad.mit.edu 37 11 124670231 124670231 + Nonsense_Mutation SNP T T A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr11:124670231T>A ENST00000239614.4 - 1 338 c.46A>T c.(46-48)Aaa>Taa p.K16* MSANTD2_ENST00000524950.1_Nonsense_Mutation_p.K16*|MSANTD2_ENST00000374979.3_Nonsense_Mutation_p.K16* NM_024631.2 NP_078907.2 Q6P1R3 CK061_HUMAN Myb/SANT-like DNA-binding domain containing 2 16 TTCGGAATTTTTAGCGGCGAG 0.687000 3 25 0 0 1 0 0 OCLN 100506658 broad.mit.edu 37 5 68805003 68805003 + Missense_Mutation SNP A A G TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr5:68805003A>G ENST00000355237.2 + 3 522 c.86A>G c.(85-87)tAt>tGt p.Y29C OCLN_ENST00000380766.2_Missense_Mutation_p.Y29C|OCLN_ENST00000396442.2_Missense_Mutation_p.Y29C|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron NM_002538.3 NP_002529.1 Q16625 OCLN_HUMAN occludin 29 cellular component disassembly involved in apoptosis|protein complex assembly integral to membrane|tight junction protein binding|structural molecule activity endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1) 6 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) AATGACATATATGGTGGAGAG 0.388000 5 157 0 0 1 0 0 LPIN1 23175 broad.mit.edu 37 2 11943120 11943120 + Silent SNP C C T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr2:11943120C>T ENST00000256720.2 + 14 1959 c.1866C>T c.(1864-1866)gtC>gtT p.V622V LPIN1_ENST00000404113.2_Silent_p.V123V|LPIN1_ENST00000449576.2_Silent_p.V707V|LPIN1_ENST00000396099.1_Silent_p.V664V|LPIN1_ENST00000396097.1_Silent_p.V352V|LPIN1_ENST00000425416.2_Silent_p.V628V NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 622 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) TGCCTAATGTCAGCTACAAGA 0.552000 6 207 0 0 1 0 0 AK5 26289 broad.mit.edu 37 1 77763264 77763264 + Missense_Mutation SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr1:77763264G>A ENST00000344720.5 + 4 1384 c.358G>A c.(358-360)Ggt>Agt p.G120S AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Missense_Mutation_p.G146S NM_012093.3 NP_036225.2 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 146 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 AAGTGGAAAGGGTACTCAGAG 0.388000 9 110 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107704425 107704425 + Nonsense_Mutation SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr7:107704425G>A ENST00000388781.3 - 22 2925 c.2842C>T c.(2842-2844)Cag>Tag p.Q948* LAMB4_ENST00000388780.3_Nonsense_Mutation_p.Q948*|LAMB4_ENST00000205386.4_Nonsense_Mutation_p.Q948* NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 948 Laminin EGF-like 9. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TCTCCACACTGAGTACCTGAA 0.448000 4 80 0 0 1 0 0 EIF5A 1984 broad.mit.edu 37 17 7214723 7214723 + Nonsense_Mutation SNP C C T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr17:7214723C>T ENST00000336458.8 + 4 726 c.325C>T c.(325-327)Cga>Tga p.R109* GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000419711.2_Nonsense_Mutation_p.R109*|EIF5A_ENST00000573542.1_Nonsense_Mutation_p.R109*|EIF5A_ENST00000336452.7_Nonsense_Mutation_p.R139*|EIF5A_ENST00000572815.1_Nonsense_Mutation_p.R109*|EIF5A_ENST00000576930.1_Nonsense_Mutation_p.R109*|EIF5A_ENST00000571955.1_Nonsense_Mutation_p.R109*|EIF5A_ENST00000416016.2_Nonsense_Mutation_p.R109* NM_001970.4 NP_001961.1 P63241 IF5A1_HUMAN eukaryotic translation initiation factor 5A 109 R -> P (in Ref. 3; AAD14095). induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1) 6 CGGGGAGGTACGAGAGGACCT 0.582000 16 76 0 0 1 0 0 PRR14 78994 broad.mit.edu 37 16 30667506 30667506 + Missense_Mutation SNP G G T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr16:30667506G>T ENST00000542965.2 + 11 2088 c.1632G>T c.(1630-1632)agG>agT p.R544S PRR14_ENST00000300835.4_Missense_Mutation_p.R544S Q9BWN1 PRR14_HUMAN proline rich 14 544 breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) CAGGGGGCAGGACTGTTCCTC 0.642000 5 102 0.014758 0.0152052 1 1 0 RPS25 6230 broad.mit.edu 37 11 118888251 118888251 + Nonsense_Mutation SNP C C T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr11:118888251C>T ENST00000527673.1 - 3 509 c.104G>A c.(103-105)tGg>tAg p.W35* NM_001028.2 NP_001019.1 P62851 RS25_HUMAN ribosomal protein S25 35 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding|RNA binding endometrium(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) GCCTTTGGACCACTTCTGCTC 0.408000 13 82 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34922188 34922188 + Silent SNP A A G TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr21:34922188A>G ENST00000356577.4 + 3 1126 c.651A>G c.(649-651)gtA>gtG p.V217V SON_ENST00000300278.4_Silent_p.V217V|SON_ENST00000381679.4_Silent_p.V217V|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.V217V NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 217 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TGTCAGTTGTATCTACATCAG 0.458000 OREG0003564 type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 13 135 0 0 1 0 0 HNRNPA3 220988 broad.mit.edu 37 2 178083789 178083789 + Missense_Mutation SNP A A C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr2:178083789A>C ENST00000411529.2 + 9 971 c.920A>C c.(919-921)tAt>tCt p.Y307S HNRNPA3_ENST00000392524.2_Missense_Mutation_p.Y329S|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.Y329S NM_194247.2 NP_919223.1 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 329 Gly-rich. catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1) 16 GGTGGGAACTATAATGATTTT 0.398000 38 79 0 0 1 0 0 DTX3 196403 broad.mit.edu 37 12 58002418 58002418 + Missense_Mutation SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr12:58002418G>A ENST00000548198.1 + 4 2370 c.866G>A c.(865-867)cGt>cAt p.R289H DTX3_ENST00000337737.3_Missense_Mutation_p.R289H|DTX3_ENST00000548804.1_Missense_Mutation_p.R289H|DTX3_ENST00000551632.1_Missense_Mutation_p.R292H Q8N9I9 DTX3_HUMAN deltex homolog 3 (Drosophila) 289 Notch signaling pathway cytoplasm zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1) 12 Melanoma(17;0.122) TTTGACCAGCGTCTCACCTTC 0.612000 5 33 0 0 1 0 0 OR52D1 390066 broad.mit.edu 37 11 5509965 5509965 + Missense_Mutation SNP A A G TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr11:5509965A>G ENST00000322641.5 + 1 51 c.29A>G c.(28-30)cAt>cGt p.H10R AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGTGATAACCATCTTCCAGAC 0.458000 12 86 0 0 1 0 0 ACRC 93953 broad.mit.edu 37 X 70824046 70824046 + Missense_Mutation SNP G G C rs142978522 TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chrX:70824046G>C ENST00000373695.1 + 7 1456 c.919G>C c.(919-921)Gac>Cac p.D307H ACRC_ENST00000373696.3_Missense_Mutation_p.D307H Q96QF7 ACRC_HUMAN acidic repeat containing 307 Asp/Ser-rich. nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) AGCTCCCGACGACAAGAGTGA 0.507000 8 174 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102516464 102516464 + RNA SNP T T G TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr15:102516464T>G ENST00000557932.1 + 0 1412 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 CGACTGGGAATCCTAGGGGGC 0.642000 8 78 0 0 1 0 0 SIAE 54414 broad.mit.edu 37 11 124507096 124507096 + Missense_Mutation SNP G G C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr11:124507096G>C ENST00000263593.3 - 10 1495 c.1323C>G c.(1321-1323)atC>atG p.I441M SIAE_ENST00000545756.1_Missense_Mutation_p.I406M Q9HAT2 SIAE_HUMAN sialic acid acetylesterase 441 extracellular region|lysosome carboxylesterase activity|sialate O-acetylesterase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 15 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243) TGCAACAGGAGATCTAATAAG 0.493000 17 144 0 0 1 0 0 RAB12 201475 broad.mit.edu 37 18 8638229 8638229 + Missense_Mutation SNP C C T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr18:8638229C>T ENST00000329286.6 + 6 987 c.704C>T c.(703-705)cCt>cTt p.P235L NM_001025300.2 NP_001020471.2 Q6IQ22 RAB12_HUMAN RAB12, member RAS oncogene family 235 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding breast(1)|lung(4)|prostate(1)|urinary_tract(1) 7 CCAGAACTGCCTCCACCAAGA 0.428000 6 71 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100126556 100126556 + Silent SNP C C A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr11:100126556C>A ENST00000524871.1 + 17 2360 c.2070C>A c.(2068-2070)tcC>tcA p.S690S CNTN5_ENST00000527185.1_Silent_p.S690S|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Silent_p.S690S|CNTN5_ENST00000418526.2_Silent_p.S616S|CNTN5_ENST00000528682.1_Silent_p.S690S NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 690 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CCACACTGTCCTGGAGCCCAG 0.507000 13 66 0.00136819 0.0015006 1 1 0 ANO7 50636 broad.mit.edu 37 2 242128075 242128075 + Missense_Mutation SNP C C T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr2:242128075C>T ENST00000274979.8 + 1 152 c.49C>T c.(49-51)Ccc>Tcc p.P17S ANO7_ENST00000402430.3_Missense_Mutation_p.P17S|ANO7_ENST00000402530.3_Missense_Mutation_p.P17S NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 17 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 GCCACCCCTCCCCACCCTCTG 0.677000 3 28 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3779596 3779596 + Missense_Mutation SNP C C A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr16:3779596C>A ENST00000262367.5 - 31 6261 c.5452G>T c.(5452-5454)Gtg>Ttg p.V1818L CREBBP_ENST00000382070.3_Missense_Mutation_p.V1780L NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1818 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGCTTGCACACCGGGCAGCCC 0.607000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 11 109 3.86212e-05 4.528e-05 1 1 0 ZNF611 81856 broad.mit.edu 37 19 53208929 53208929 + Missense_Mutation SNP T T A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr19:53208929T>A ENST00000543227.1 - 6 1653 c.1379A>T c.(1378-1380)gAc>gTc p.D460V ZNF611_ENST00000453741.2_Missense_Mutation_p.D391V|ZNF611_ENST00000319783.1_Missense_Mutation_p.D460V|ZNF611_ENST00000540744.1_Missense_Mutation_p.D460V|ZNF611_ENST00000595798.1_Missense_Mutation_p.D391V|ZNF611_ENST00000602162.1_Missense_Mutation_p.D391V NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 460 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) AAAAGCCTTGTCACAAACCTT 0.398000 51 288 0 0 1 0 0 CUL1 8454 broad.mit.edu 37 7 148451163 148451163 + Missense_Mutation SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr7:148451163G>A ENST00000325222.4 + 3 515 c.236G>A c.(235-237)gGa>gAa p.G79E CUL1_ENST00000602748.1_Missense_Mutation_p.G79E|CUL1_ENST00000409469.1_Missense_Mutation_p.G79E NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 79 Missing (in Ref. 1; AAC50544). anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) CAGACACCTGGAGGAGCTCAG 0.383000 10 55 0 0 1 0 0 FNIP1 96459 broad.mit.edu 37 5 130987631 130987631 + Missense_Mutation SNP C C A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr5:130987631C>A ENST00000307968.7 - 15 3085 c.3086G>T c.(3085-3087)tGg>tTg p.W1029L FNIP1_ENST00000510461.1_Missense_Mutation_p.W1057L|FNIP1_ENST00000307954.8_Missense_Mutation_p.W1012L|FNIP1_ENST00000514667.1_Intron NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TTGAACAGTCCATTTATCCAT 0.378000 10 96 3.86212e-05 4.528e-05 1 1 0 NR2F2 7026 broad.mit.edu 37 15 96875608 96875608 + Missense_Mutation SNP G G T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr15:96875608G>T ENST00000394166.3 + 1 1663 c.274G>T c.(274-276)Ggc>Tgc p.G92C NR2F2_ENST00000421109.2_Intron NM_021005.3 NP_066285.1 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 92 lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1) 17 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) CAAGCACTACGGCCAGTTCAC 0.652000 4 15 0.014758 0.0152052 1 1 0 ZNF423 23090 broad.mit.edu 37 16 49671871 49671871 + Silent SNP G G T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr16:49671871G>T ENST00000561648.1 - 4 1245 c.1192C>A c.(1192-1194)Cgg>Agg p.R398R ZNF423_ENST00000562871.1_Silent_p.R338R|ZNF423_ENST00000563137.2_Silent_p.R338R|ZNF423_ENST00000562520.1_Silent_p.R338R|ZNF423_ENST00000262383.2_Silent_p.R398R|ZNF423_ENST00000567169.1_Silent_p.R281R|ZNF423_ENST00000535559.1_Silent_p.R281R NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 398 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.R398W(2) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) CCGTCATCCCGCATCTTCTTC 0.637000 8 68 0.000157383 0.000175444 1 1 0 CRY2 1408 broad.mit.edu 37 11 45880359 45880359 + Silent SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr11:45880359G>A ENST00000443527.2 + 3 487 c.465G>A c.(463-465)aaG>aaA p.K155K CRY2_ENST00000473199.1_3'UTR|CRY2_ENST00000417225.2_Silent_p.K73K NM_021117.3 NP_066940.2 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) 134 DNA photolyase. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 CCATCATGAAGATGGCCAAGG 0.512000 5 61 0 0 1 0 0 SATL1 340562 broad.mit.edu 37 X 84363320 84363320 + Missense_Mutation SNP T T A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chrX:84363320T>A ENST00000509231.1 - 1 734 c.655A>T c.(655-657)Agc>Tgc p.S219C SATL1_ENST00000332921.5_Missense_Mutation_p.S32C|SATL1_ENST00000395409.3_Missense_Mutation_p.S32C Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 32 Gln-rich. N-acetyltransferase activity NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1) 29 ACTTGCTGGCTCATGCCTGGT 0.537000 10 82 0 0 1 0 0 REG1A 5967 broad.mit.edu 37 2 79350329 79350329 + Silent SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr2:79350329G>A ENST00000233735.1 + 6 592 c.489G>A c.(487-489)aaG>aaA p.K163K NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 163 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 TTGTCTGCAAGTTCAAAAACT 0.413000 5 73 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7230237 7230237 + Silent SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr6:7230237G>A ENST00000379938.2 + 10 2442 c.1905G>A c.(1903-1905)acG>acA p.T635T RREB1_ENST00000349384.6_Silent_p.T635T|RREB1_ENST00000379933.3_Silent_p.T635T|RREB1_ENST00000334984.6_Silent_p.T635T NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 635 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GCAAGAAGACGCCCGCCATGC 0.642000 6 31 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94038707 94038707 + Missense_Mutation SNP G G T rs67031201 TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr7:94038707G>T ENST00000297268.6 + 17 1337 c.866G>T c.(865-867)gGc>gTc p.G289V NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 289 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGTCTTCCAGGCCTCTCCGGC 0.488000 HNSCC(75;0.22) 10 90 1.49906e-05 1.78835e-05 1 1 0 TTN 7273 broad.mit.edu 37 2 179664617 179664617 + Missense_Mutation SNP T T C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr2:179664617T>C ENST00000589042.1 - 5 828 c.604A>G c.(604-606)Aaa>Gaa p.K202E TTN_ENST00000342992.6_Missense_Mutation_p.K202E|TTN_ENST00000460472.2_Missense_Mutation_p.K202E|TTN_ENST00000591111.1_Missense_Mutation_p.K202E|TTN_ENST00000342175.6_Missense_Mutation_p.K202E|TTN_ENST00000360870.5_Missense_Mutation_p.K202E|TTN_ENST00000359218.5_Missense_Mutation_p.K202E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 202 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) TTTGTCTTTTTAGCAGGTACT 0.383000 4 100 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20327363 20327363 + Splice_Site SNP C C A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr16:20327363C>A ENST00000302555.5 - 9 1566 c.e9-1 GP2_ENST00000341642.5_Splice_Site|GP2_ENST00000381360.5_Splice_Site|GP2_ENST00000381362.4_Splice_Site P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TTGAGCAAGACTGTAGGGATG 0.478000 6 80 1.26484e-09 1.63828e-09 1 1 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 3 4 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187542175 187542196 + Frame_Shift_Del DEL TGGGGTTCCCATGTCATGCACT TGGGGTTCCCATGTCATGCACT - TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr4:187542175_187542196delTGGGGTTCCCATGTCATGCACT ENST00000441802.2 - 10 5753_5774 c.5544_5565delAGTGCATGACATGGGAACCCCA c.(5542-5565)cafs p.QVHDMGTP1848fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1848 Cadherin 16. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CAAATAAACGTGGGGTTCCCATGTCATGCACTTGGACGGTAA 0.396 HNSCC(5;0.00058) 9 58 --- --- --- --- BDP1 55814 broad.mit.edu 37 5 70761984 70761984 + Frame_Shift_Del DEL G G - TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr5:70761984delG ENST00000358731.4 + 5 984 c.721delG c.(721-723)ggfs p.G241fs BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 241 Interaction with ZBTB43. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GACAGATGATGGGCCATTACT 0.368 8 135 --- --- --- --- C6orf165 154313 broad.mit.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr6:88144700delA ENST00000507897.1 + 11 1506 c.1423delA c.(1423-1425)aafs p.K476fs C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 476 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGAAAAGGCCAAAAAAAATAC 0.269 7 157 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586653 1586654 + In_Frame_Ins INS - - GCC rs112463195 by1000genomes TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr7:1586653_1586654insGCC ENST00000297477.5 - 9 1492_1493 c.1176_1177insGGC c.(1174-1179)ggccgg>ggGGCccgg p.392_393GR>GAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 392 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) CTCCCGCCGGAGCCGCCGCTGG 0.708 8 6 --- --- --- --- ACTN3 89 broad.mit.edu 37 11 66324669 66324669 + RNA DEL G G - TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr11:66324669delG ENST00000513398.1 + 0 967 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 AGAAGCTGATGGAGGAGTATG 0.602 2 4 --- --- --- --- TRAV24 28659 broad.mit.edu 37 14 22573825 22573826 + RNA INS - - A rs33991650 by1000genomes TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr14:22573825_22573826insA ENST00000390453.1 + 0 55 GACTCTTTTTTAAAAAAACAGG 0.450 5 8 --- --- --- --- ADAMTS7 11173 broad.mit.edu 37 15 79056182 79056182 + Frame_Shift_Del DEL G G - TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr15:79056182delG ENST00000388820.4 - 22 4809 c.4599delC c.(4597-4599)tcfs p.S1533fs NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1533 TSP type-1 7. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CACAGGCCTCGGAGCACTGGG 0.687 2 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579470 7579471 + Frame_Shift_Ins INS - - G rs56275308 TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr17:7579470_7579471insG ENST00000420246.2 - 4 348_349 c.216_217insC c.(214-219)cctggcfs p.G73fs TP53_ENST00000269305.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.G73fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 73 Interaction with HRMT1L2.|Interaction with WWOX. V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCAGGGGCCACGGGGGGAGCAG 0.604 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 42 180 --- --- --- --- CTD-2245F17.3 0 broad.mit.edu 37 19 53703995 53703995 + RNA DEL T T - rs113703393 TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr19:53703995delT ENST00000597550.1 + 0 232 TGTTTCCCCCttttttttttt 0.473 5 7 --- --- --- --- ZNF761 388561 broad.mit.edu 37 19 53946133 53946133 + RNA DEL A A - rs35108555 TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr19:53946133delA ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) TCATGTTGTGAAAAAAAAAAT 0.348 2 4 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36688050 36688050 + Frame_Shift_Del DEL C C - TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chr22:36688050delC ENST00000216181.5 - 31 4556 c.4326delG c.(4324-4326)aafs p.K1442fs NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1442 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 ACTTCTTCTGCTTCTTCTCCA 0.582 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 14 66 --- --- --- --- IRS4 8471 broad.mit.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2136826-7308-4afb-a7ab-8253e2c9797f 1a38a188-915a-46cf-9ef6-a66354ff19f6 g.chrX:107977802_107977803insC ENST00000372129.2 - 1 1848_1849 c.1772_1773insG c.(1771-1773)gaafs p.E591fs NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 591 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTGAGCCTTTGCCCCCCCCAGA 0.545 7 221 --- --- --- ---