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 COL3A1 1281 broad.mit.edu 37 2 189872774 189872774 + Missense_Mutation SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr2:189872774C>G ENST00000304636.3 + 47 3601 c.3431C>G c.(3430-3432)cCc>cGc p.P1144R COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1144 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCTGTTGGACCCAGTGGACCT 0.473000 10 34 0 0 1 0 0 UTP14C 9724 broad.mit.edu 37 13 52603228 52603228 + Silent SNP A A T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr13:52603228A>T ENST00000521776.2 + 2 1021 c.288A>T c.(286-288)tcA>tcT p.S96S ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 96 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) TTAAAACTTCATCTTCTTTGG 0.428000 34 180 0 0 1 0 0 AHSG 197 broad.mit.edu 37 3 186334993 186334993 + Missense_Mutation SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr3:186334993C>A ENST00000411641.2 + 4 646 c.427C>A c.(427-429)Cgc>Agc p.R143S AHSG_ENST00000273784.5_Missense_Mutation_p.R144S P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 143 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) CGAGGACGTGCGCAAGGTGTG 0.642000 OREG0015968 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 96 3.83957e-06 4.18086e-06 1 1 0 RNF17 56163 broad.mit.edu 37 13 25424514 25424514 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr13:25424514C>T ENST00000255324.5 + 23 3189 c.3137C>T c.(3136-3138)gCt>gTt p.A1046V RNF17_ENST00000339524.3_Missense_Mutation_p.A98V|RNF17_ENST00000381921.1_Missense_Mutation_p.A1046V NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1046 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ACAGCAACAGCTTGTGACTGT 0.383000 10 32 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18829843 18829843 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr9:18829843C>T ENST00000380548.4 + 23 4456 c.4117C>T c.(4117-4119)Ccc>Tcc p.P1373S ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.P74S NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 1373 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TCTCACAGATCCCCCCCAAGT 0.567000 12 40 0 0 1 0 0 HS3ST2 9956 broad.mit.edu 37 16 22826294 22826294 + Silent SNP C C A rs140526711 TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr16:22826294C>A ENST00000261374.3 + 1 797 c.363C>A c.(361-363)ggC>ggA p.G121G NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 121 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) TCATTGTGGGCGTGAAGAAGG 0.677000 10 10 0.0692343 0.0706767 1 1 0 GRIN2B 2904 broad.mit.edu 37 12 13716136 13716136 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr12:13716136C>T ENST00000279593.3 - 13 4245 c.4036G>A c.(4036-4038)Gag>Aag p.E1346K NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1346 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAGGTGCTCTCGCCAGCTGAC 0.612000 8 80 0 0 1 0 0 MICALCL 84953 broad.mit.edu 37 11 12315474 12315474 + Missense_Mutation SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr11:12315474G>A ENST00000256186.2 + 3 787 c.496G>A c.(496-498)Gag>Aag p.E166K NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 166 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) GAAGGAAGAAGAGGGAGGGCC 0.552000 23 62 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63014669 63014669 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr15:63014669C>T ENST00000561311.1 + 25 3339 c.3109C>T c.(3109-3111)Cgt>Tgt p.R1037C TLN2_ENST00000306829.6_Missense_Mutation_p.R1037C Q9Y4G6 TLN2_HUMAN talin 2 1037 Ala-rich. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GGCGGAGCTGCGTACCGCCTC 0.632000 5 27 0 0 1 0 0 ANKRD32 84250 broad.mit.edu 37 5 94030836 94030836 + Missense_Mutation SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr5:94030836C>A ENST00000265140.5 + 21 3415 c.2996C>A c.(2995-2997)aCc>aAc p.T999N ANKRD32_ENST00000493934.1_Intron NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 999 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) CATAAAGAAACCACCAGTGTT 0.348000 12 90 4.35082e-09 5.07595e-09 1 1 0 LSM10 84967 broad.mit.edu 37 1 36859702 36859702 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:36859702C>T ENST00000315732.2 - 2 178 c.29G>A c.(28-30)cGg>cAg p.R10Q LSM10_ENST00000476041.1_5'UTR NM_032881.1 NP_116270.1 Q969L4 LSM10_HUMAN LSM10, U7 small nuclear RNA associated 10 histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription Cajal body|U7 snRNP histone pre-mRNA DCP binding|protein binding upper_aerodigestive_tract(1)|urinary_tract(1) 2 Myeloproliferative disorder(586;0.0393) AGAGATGGTCCGCTCCTTCAC 0.602000 12 48 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116339760 116339760 + Missense_Mutation SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr7:116339760G>T ENST00000397752.3 + 2 822 c.622G>T c.(622-624)Gat>Tat p.D208Y MET_ENST00000318493.6_Missense_Mutation_p.D208Y|MET_ENST00000436117.2_Missense_Mutation_p.D208Y NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 208 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TTATTTCCCAGATCATCCATT 0.418000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 69 187 1.33661e-31 1.78945e-31 1 1 0 COL18A1 80781 broad.mit.edu 37 21 46925758 46925758 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr21:46925758C>T ENST00000359759.4 + 36 4360 c.4339C>T c.(4339-4341)Ctc>Ttc p.L1447F SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.L1032F|COL18A1_ENST00000355480.5_Missense_Mutation_p.L1212F P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1447 Nonhelical region 11 (NC11). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GCAGGTGAGGCTCTGGGCTAC 0.682000 18 34 0 0 1 0 0 GPR160 26996 broad.mit.edu 37 3 169801905 169801905 + Missense_Mutation SNP A A C TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr3:169801905A>C ENST00000355897.5 + 4 753 c.145A>C c.(145-147)Aac>Cac p.N49H NM_014373.2 NP_055188.1 Q9UJ42 GP160_HUMAN G protein-coupled receptor 160 49 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAGAAGAAAAAACACCTGTCA 0.303000 8 109 0 0 1 0 0 ECHS1 1892 broad.mit.edu 37 10 135178173 135178173 + Missense_Mutation SNP T T C TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr10:135178173T>C ENST00000368547.3 - 7 1151 c.796A>G c.(796-798)Acc>Gcc p.T266A NM_004092.3 NP_004083.3 P30084 ECHM_HUMAN enoyl CoA hydratase, short chain, 1, mitochondrial 266 fatty acid beta-oxidation mitochondrial matrix enoyl-CoA hydratase activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1) 10 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06) GTGGCAAAGGTTGAATAAAAG 0.353000 19 52 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 8 98 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458161 248458161 + Silent SNP A A G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:248458161A>G ENST00000317996.1 - 1 719 c.720T>C c.(718-720)tcT>tcC p.S240S NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) CCACATGTGAAGAGCAGGTGG 0.517000 13 161 0 0 1 0 0 GLIPR2 152007 broad.mit.edu 37 9 36147803 36147803 + Missense_Mutation SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr9:36147803G>A ENST00000377960.4 + 2 68 c.34G>A c.(34-36)Gag>Aag p.E12K GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000377959.1_Missense_Mutation_p.E12K|GLIPR2_ENST00000474050.1_3'UTR NM_022343.2 NP_071738.1 Q9H4G4 GAPR1_HUMAN GLI pathogenesis-related 2 12 extracellular region|Golgi membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3) 10 GTTTCATAATGAGGTCCTGAA 0.493000 102 253 0 0 1 0 0 SRPK2 6733 broad.mit.edu 37 7 104782488 104782488 + Missense_Mutation SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr7:104782488C>G ENST00000357311.3 - 10 1648 c.1477G>C c.(1477-1479)Gtt>Ctt p.V493L SRPK2_ENST00000489828.1_Missense_Mutation_p.V493L|SRPK2_ENST00000393651.3_Missense_Mutation_p.V504L NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 493 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 GAGGCTGAAACCGTTCTGCTT 0.517000 46 117 0 0 1 0 0 SNX13 23161 broad.mit.edu 37 7 17931229 17931229 + Missense_Mutation SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr7:17931229C>A ENST00000409389.1 - 4 430 c.258G>T c.(256-258)agG>agT p.R86S SNX13_ENST00000409604.1_Missense_Mutation_p.R86S|SNX13_ENST00000428135.3_Missense_Mutation_p.R86S Q9Y5W8 SNX13_HUMAN sorting nexin 13 86 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) TCTTAATAGTCCTGGCTTCCC 0.353000 6 64 0.000157383 0.000166922 1 1 0 HIPK1 204851 broad.mit.edu 37 1 114483824 114483824 + Silent SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:114483824G>A ENST00000369558.1 + 2 1051 c.819G>A c.(817-819)caG>caA p.Q273Q HIPK1_ENST00000369555.2_Silent_p.Q273Q|HIPK1_ENST00000369559.4_Silent_p.Q273Q|HIPK1_ENST00000369554.2_Silent_p.Q273Q|HIPK1_ENST00000369561.4_Silent_p.Q273Q|HIPK1_ENST00000426820.2_Silent_p.Q273Q Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 273 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGTTGGAGCAGAACTTATATG 0.413000 24 81 0 0 1 0 0 HSPH1 10808 broad.mit.edu 37 13 31729698 31729698 + Silent SNP A A G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr13:31729698A>G ENST00000320027.5 - 3 603 c.259T>C c.(259-261)Ttg>Ctg p.L87L HSPH1_ENST00000429785.2_5'UTR|HSPH1_ENST00000380405.4_Silent_p.L87L|HSPH1_ENST00000445273.2_Silent_p.L89L|HSPH1_ENST00000380406.5_Silent_p.L87L NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 87 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) TCGTAACTCAAGTTTTCCTTC 0.338000 17 112 0 0 1 0 0 ELFN1 392617 broad.mit.edu 37 7 1785510 1785510 + Silent SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr7:1785510C>G ENST00000424383.2 + 3 1765 c.1278C>G c.(1276-1278)ctC>ctG p.L426L ELFN1_ENST00000561626.1_Silent_p.L426L|ELFN1_ENST00000541472.1_Silent_p.L426L extracellular leucine-rich repeat and fibronectin type III domain containing 1 endometrium(1) 1 TGGGCTGCCTCTTCGGCATGG 0.701000 3 8 0 0 1 0 0 IGLV8-61 28774 broad.mit.edu 37 22 22453327 22453327 + RNA SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr22:22453327C>G ENST00000390283.2 + 0 119 AGTGGATTCTCAGACTGTGGT 0.517000 13 54 0 0 1 0 0 ZNF619 285267 broad.mit.edu 37 3 40529119 40529119 + Missense_Mutation SNP A A C TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr3:40529119A>C ENST00000447116.2 + 6 1545 c.1238A>C c.(1237-1239)gAa>gCa p.E413A ZNF619_ENST00000522736.1_Missense_Mutation_p.E364A|ZNF619_ENST00000432264.2_Missense_Mutation_p.E373A|ZNF619_ENST00000314686.5_Missense_Mutation_p.E357A|ZNF619_ENST00000521353.1_Missense_Mutation_p.E413A|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Missense_Mutation_p.E329A|ZNF619_ENST00000429348.2_Missense_Mutation_p.E373A NM_001145082.2 NP_001138554.1 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 413 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) AAACCTTATGAATGTAAAGAG 0.458000 7 135 0 0 1 0 0 SLC6A19 340024 broad.mit.edu 37 5 1217037 1217037 + Missense_Mutation SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr5:1217037G>A ENST00000304460.10 + 8 1206 c.1150G>A c.(1150-1152)Gac>Aac p.D384N NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 384 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CCAGACCTGCGACATCAACGC 0.657000 48 163 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248637592 248637592 + Missense_Mutation SNP T T G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:248637592T>G ENST00000359594.2 + 1 966 c.941T>G c.(940-942)aTg>aGg p.M314R NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CAGTCAAGAATGAACCAAGAA 0.488000 51 756 0 0 1 0 0 PKP1 5317 broad.mit.edu 37 1 201286883 201286883 + Missense_Mutation SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:201286883G>A ENST00000263946.3 + 5 1281 c.1030G>A c.(1030-1032)Gcc>Acc p.A344T PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000367324.3_Missense_Mutation_p.A344T|PKP1_ENST00000352845.3_Missense_Mutation_p.A344T NM_000299.3 NP_000290.2 Q13835 PKP1_HUMAN plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) 344 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 AACCGGGAACGCCGAGATCCA 0.642000 13 47 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36044656 36044656 + Missense_Mutation SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr19:36044656C>A ENST00000262623.3 - 17 2585 c.2557G>T c.(2557-2559)Gac>Tac p.D853Y NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 853 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) ACCAATCTGTCACGCTTTGGG 0.622000 11 13 0.000978159 0.00102414 1 1 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29974608 29974608 + RNA SNP C C G rs116569882 by1000genomes TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr6:29974608C>G ENST00000376797.3 - 0 1346 ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA TCAGCACCGCCGTTTCCTGGC 0.711000 3 19 0 0 1 0 0 CENPP 401541 broad.mit.edu 37 9 95142087 95142087 + Silent SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr9:95142087G>T ENST00000375587.3 + 5 1025 c.510G>T c.(508-510)ctG>ctT p.L170L NM_001012267.1 NP_001012267.1 Q6IPU0 CENPP_HUMAN centromere protein P 170 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1) 16 TCCGAAGCCTGCATTTTTTTG 0.328000 18 99 7.45023e-12 9.08112e-12 1 1 0 ZGPAT 84619 broad.mit.edu 37 20 62340199 62340199 + Silent SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr20:62340199G>T ENST00000328969.5 + 2 394 c.267G>T c.(265-267)gcG>gcT p.A89A ZGPAT_ENST00000357119.4_Silent_p.A89A|ZGPAT_ENST00000448100.1_Silent_p.A89A|ZGPAT_ENST00000369967.3_Silent_p.A89A|ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000355969.6_Silent_p.A89A NM_032527.4 NP_115916.3 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 89 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 14 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) TCACTGAGGCGGTGGAGGCAC 0.662000 30 66 1.56738e-10 1.87321e-10 1 1 0 SLC2A6 11182 broad.mit.edu 37 9 136340214 136340214 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr9:136340214C>T ENST00000371899.4 - 6 873 c.796G>A c.(796-798)Gag>Aag p.E266K SLC2A6_ENST00000371897.4_Missense_Mutation_p.E266K|SLC2A6_ENST00000485978.1_5'UTR NM_017585.3 NP_060055.2 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose transporter), member 6 266 integral to membrane|plasma membrane D-glucose transmembrane transporter activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) GCCCGTGCCTCAGCCCACGAT 0.682000 3 5 0 0 1 0 0 PSTPIP1 9051 broad.mit.edu 37 15 77317648 77317648 + Missense_Mutation SNP C C T rs77026017 byFrequency TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr15:77317648C>T ENST00000558012.1 + 4 725 c.236C>T c.(235-237)tCc>tTc p.S79F PSTPIP1_ENST00000559295.1_Missense_Mutation_p.S79F|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.S78F|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.S79F NM_003978.3 NP_003969.2 O43586 PPIP1_HUMAN proline-serine-threonine phosphatase interacting protein 1 79 FCH. cell adhesion|signal transduction cleavage furrow|lamellipodium|perinuclear region of cytoplasm catalytic activity breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 TCCTTTGACTCCTTGAAGCAG 0.617000 24 59 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48367239 48367239 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr12:48367239C>T ENST00000380518.3 - 54 4579 c.4415G>A c.(4414-4416)gGg>gAg p.G1472E COL2A1_ENST00000337299.6_Missense_Mutation_p.G1403E|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1472 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CTGCTCGGGCCCTCCTATGTC 0.517000 47 120 0 0 1 0 0 LIPI 149998 broad.mit.edu 37 21 15554083 15554083 + Silent SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr21:15554083G>T ENST00000344577.2 - 4 727 c.702C>A c.(700-702)tcC>tcA p.S234S LIPI_ENST00000536861.1_Silent_p.S213S NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 213 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TGTTACCATTGGAGTCAGAAT 0.403000 21 41 1.96292e-10 2.33454e-10 1 1 0 HOXD13 3239 broad.mit.edu 37 2 176957890 176957890 + Missense_Mutation SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr2:176957890C>G ENST00000392539.3 + 1 272 c.272C>G c.(271-273)tCt>tGt p.S91C NM_000523.3 NP_000514.2 P35453 HXD13_HUMAN homeobox D13 91 Poly-Ser. skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) TCGTCGTCCTCTTCTGCCGTT 0.766000 T NUP98 AML* 6 21 0 0 1 0 0 SLC37A4 2542 broad.mit.edu 37 11 118896717 118896717 + Missense_Mutation SNP A A G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr11:118896717A>G ENST00000545985.1 - 9 1700 c.944T>C c.(943-945)aTg>aCg p.M315T SLC37A4_ENST00000357590.5_Missense_Mutation_p.M315T|SLC37A4_ENST00000538950.1_Missense_Mutation_p.M242T|SLC37A4_ENST00000330775.7_Missense_Mutation_p.M314T|SLC37A4_ENST00000525102.1_5'UTR NM_001164277.1|NM_001467.5 NP_001157749.1|NP_001458.1 O43826 G6PT1_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 4 315 glucose homeostasis|glucose metabolic process endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane glucose-6-phosphate transmembrane transporter activity endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1) 6 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) GAAGAGGTACATGGACACTGT 0.567000 8 6 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106918722 106918722 + Nonsense_Mutation SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr10:106918722G>T ENST00000369701.3 + 11 1929 c.1702G>T c.(1702-1704)Gag>Tag p.E568* NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 568 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CTCTAGCAAGGAGACAGCCCC 0.418000 15 69 1.02788e-11 1.24669e-11 1 1 0 RP3-462D8.2 0 broad.mit.edu 37 22 25678979 25678979 + RNA SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr22:25678979C>G ENST00000444383.1 - 0 82 CAAGGCGACTCCGGCCGCCCG 0.711000 3 4 0 0 1 0 0 PCSK2 5126 broad.mit.edu 37 20 17437058 17437058 + Missense_Mutation SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr20:17437058G>T ENST00000262545.2 + 10 1482 c.1167G>T c.(1165-1167)gaG>gaT p.E389D PCSK2_ENST00000536609.1_Missense_Mutation_p.E354D|PCSK2_ENST00000377899.1_Missense_Mutation_p.E370D NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 389 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTGCCCCCGAGGCAGCTGGTG 0.542000 33 176 1.99505e-19 2.5591e-19 1 1 0 C12orf36 283422 broad.mit.edu 37 12 13526240 13526240 + Silent SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr12:13526240C>T ENST00000318426.2 - 3 532 c.315G>A c.(313-315)caG>caA p.Q105Q C12orf36_ENST00000527705.2_Silent_p.Q105Q chromosome 12 open reading frame 36 lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) TCTTCAGCCTCTGAATCCTCC 0.483000 62 238 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112667594 112667594 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr12:112667594C>T ENST00000550722.1 - 41 6384 c.5989G>A c.(5989-5991)Gcc>Acc p.A1997T HECTD4_ENST00000377560.5_Missense_Mutation_p.A1971T|HECTD4_ENST00000430131.2_Missense_Mutation_p.A1721T NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TGAAGTTTGGCAAGTTTCCTG 0.478000 37 109 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21066883 21066883 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr22:21066883C>T ENST00000255882.6 - 50 5779 c.5693G>A c.(5692-5694)tGc>tAc p.C1898Y PI4KA_ENST00000414196.3_Missense_Mutation_p.C650Y|PI4KA_ENST00000572273.1_Missense_Mutation_p.C1840Y NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1840 PI3K/PI4K. phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GTCGGGGATGCACTCGATCAC 0.647000 4 17 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179533763 179533763 + Silent SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr3:179533763G>A ENST00000467460.1 - 10 1299 c.969C>T c.(967-969)ttC>ttT p.F323F PEX5L_ENST00000464614.1_Silent_p.F215F|PEX5L_ENST00000392649.3_Silent_p.F215F|PEX5L_ENST00000263962.8_Silent_p.F321F|PEX5L_ENST00000485199.1_Silent_p.F288F|PEX5L_ENST00000476138.1_Silent_p.F280F|PEX5L_ENST00000472994.1_Silent_p.F264F|PEX5L_ENST00000468741.1_Silent_p.F131F|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Silent_p.F299F NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 323 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) GCCAGTCCTTGAAGGGGTTTT 0.453000 19 74 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C T rs121913530 TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr12:25398285C>T ENST00000311936.3 - 2 225 c.34G>A c.(34-36)Ggt>Agt p.G12S KRAS_ENST00000557334.1_Missense_Mutation_p.G12S|KRAS_ENST00000256078.4_Missense_Mutation_p.G12S|KRAS_ENST00000556131.1_Missense_Mutation_p.G12S NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 10 25 0 0 1 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215837 140215837 + Silent SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr5:140215837C>A ENST00000525929.1 + 1 1869 c.1869C>A c.(1867-1869)cgC>cgA p.R623R PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.R623R|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCGTTCCGCGTGGGGCTGT 0.632000 23 98 1.28384e-07 1.43626e-07 1 1 0 KEAP1 9817 broad.mit.edu 37 19 10600008 10600008 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr19:10600008C>T ENST00000171111.5 - 5 2115 c.1568G>A c.(1567-1569)gGg>gAg p.G523E KEAP1_ENST00000393623.2_Missense_Mutation_p.G523E NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 523 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) ATCATAGCCCCCAGCAGCATA 0.587000 26 26 0 0 1 0 0 NHLRC2 374354 broad.mit.edu 37 10 115636523 115636523 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr10:115636523C>T ENST00000369301.3 + 3 787 c.575C>T c.(574-576)tCa>tTa p.S192L NM_198514.3 NP_940916.2 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 192 Thioredoxin. cell redox homeostasis breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Epithelial(162;0.017)|all cancers(201;0.0187) TTATATACTTCAATTGCTTTA 0.348000 22 84 0 0 1 0 0 GCNT2 2651 broad.mit.edu 37 6 10557572 10557572 + Missense_Mutation SNP C C A rs56065392 TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr6:10557572C>A ENST00000316170.3 + 1 1333 c.916C>A c.(916-918)Cca>Aca p.P306T GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron NM_001491.2 NP_001482.1 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 308 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) CAATAGGATTCCAGGTACGTA 0.413000 7 160 0.00198382 0.00205947 1 1 0 POTEE 445582 broad.mit.edu 37 2 132021446 132021446 + Silent SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr2:132021446C>A ENST00000356920.5 + 15 2512 c.2418C>A c.(2416-2418)acC>acA p.T806T POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 806 Actin-like. ATP binding TCCTGCTGACCGAGGCCCCCC 0.597000 46 160 5.82388e-19 7.43152e-19 1 1 0 CUZD1 50624 broad.mit.edu 37 10 124595810 124595810 + Missense_Mutation SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr10:124595810C>G ENST00000368904.1 - 8 1823 c.874G>C c.(874-876)Gag>Cag p.E292Q CUZD1_ENST00000545804.1_Missense_Mutation_p.E292Q|CUZD1_ENST00000392790.1_Missense_Mutation_p.E292Q Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 292 ZP. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) TTAAAAGCCTCTAGGTAGGAT 0.348000 31 75 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2857522 2857522 + Missense_Mutation SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr8:2857522G>T ENST00000602557.1 - 54 8719 c.8164C>A c.(8164-8166)Ctg>Atg p.L2722M CSMD1_ENST00000602723.1_Missense_Mutation_p.L2664M|CSMD1_ENST00000542608.1_Missense_Mutation_p.L2663M|CSMD1_ENST00000537824.1_Missense_Mutation_p.L2721M|CSMD1_ENST00000520002.1_Missense_Mutation_p.L2722M|CSMD1_ENST00000400186.3_Missense_Mutation_p.L2664M Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2722 Sushi 18. 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) TGGTCTTGCAGGCATATCCTC 0.493000 56 181 7.89702e-26 1.05151e-25 1 1 0 ARL4C 10123 broad.mit.edu 37 2 235404667 235404667 + Silent SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr2:235404667C>T ENST00000390645.2 - 1 1030 c.564G>A c.(562-564)caG>caA p.Q188Q ARL4C_ENST00000339728.3_Silent_p.Q188Q NM_005737.3 NP_005728.2 P56559 ARL4C_HUMAN ADP-ribosylation factor-like 4C 188 endocytic recycling|small GTPase mediated signal transduction cytoplasm|filopodium|nucleus|plasma membrane alpha-tubulin binding|GTP binding|GTPase activity endometrium(1)|ovary(1)|skin(1)|urinary_tract(1) 4 Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173) Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048) GCTTCTTCTTCTGCTTGAGGG 0.577000 12 58 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127843829 127843829 + Silent SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr10:127843829G>A ENST00000368679.4 - 4 615 c.306C>T c.(304-306)gaC>gaT p.D102D ADAM12_ENST00000368676.4_Silent_p.D102D NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 102 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CATCAGTACCGTCTTGCAGAT 0.443000 44 103 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49940721 49940721 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr3:49940721C>T ENST00000296474.3 - 1 349 c.322G>A c.(322-324)Ggc>Agc p.G108S CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.G108S NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 108 Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) GGTCCTGGGCCACAGGCTGCA 0.672000 21 107 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124765802 124765802 + Missense_Mutation SNP T T C TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr11:124765802T>C ENST00000306534.3 - 5 1171 c.686A>G c.(685-687)cAg>cGg p.Q229R ROBO4_ENST00000533054.1_Missense_Mutation_p.Q84R|ROBO4_ENST00000526899.1_5'UTR NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 229 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CGTGTAGTCCTGGGGCTCTGT 0.607000 9 53 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22807613 22807613 + Missense_Mutation SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr18:22807613G>A ENST00000361524.3 - 4 417 c.269C>T c.(268-270)tCa>tTa p.S90L ZNF521_ENST00000538137.2_Missense_Mutation_p.S90L|ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000584787.1_5'UTR NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 90 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GCTAGAAGGTGAGGAAGCTGG 0.478000 T PAX5 ALL 24 50 0 0 1 0 0 GBP4 115361 broad.mit.edu 37 1 89652016 89652016 + Splice_Site SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:89652016C>T ENST00000355754.6 - 10 1804 c.1707_splice c.e10+1 p.K569_splice NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 569 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) GGAGACTCACCTTCAGCTTGT 0.473000 46 98 0 0 1 0 0 PCSK2 5126 broad.mit.edu 37 20 17437059 17437059 + Missense_Mutation SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr20:17437059G>T ENST00000262545.2 + 10 1483 c.1168G>T c.(1168-1170)Gca>Tca p.A390S PCSK2_ENST00000536609.1_Missense_Mutation_p.A355S|PCSK2_ENST00000377899.1_Missense_Mutation_p.A371S NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 390 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGCCCCCGAGGCAGCTGGTGT 0.542000 34 175 1.36615e-20 1.76161e-20 1 1 0 DLGAP4 22839 broad.mit.edu 37 20 35128032 35128032 + Silent SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr20:35128032C>T ENST00000339266.5 + 7 2052 c.2052C>T c.(2050-2052)ccC>ccT p.P684P DLGAP4_ENST00000340491.4_Silent_p.P145P|DLGAP4_ENST00000373913.3_Intron|DLGAP4_ENST00000401952.2_Intron|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000373907.2_Silent_p.P684P NM_001042486.2 NP_001035951.1 Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 684 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) AGCCCAGTCCCGCTACCAAAT 0.542000 8 20 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119976782 119976782 + Silent SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr9:119976782C>A ENST00000313400.4 - 3 970 c.870G>T c.(868-870)ctG>ctT p.L290L ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.L290L|ASTN2_ENST00000361209.2_Silent_p.L290L O75129 ASTN2_HUMAN astrotactin 2 290 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CATAGTCATCCAGGATGGGAG 0.622000 12 65 6.40141e-05 6.87871e-05 1 1 0 AUTS2 26053 broad.mit.edu 37 7 70239076 70239076 + Missense_Mutation SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr7:70239076G>T ENST00000342771.4 + 12 2214 c.1893G>T c.(1891-1893)aaG>aaT p.K631N AUTS2_ENST00000406775.2_Intron NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 631 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) TACTCCAAAAGGACCCGAGGG 0.532000 16 47 6.94344e-10 8.17857e-10 1 1 0 HPS6 79803 broad.mit.edu 37 10 103827455 103827455 + Nonsense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr10:103827455C>T ENST00000299238.5 + 1 2309 c.2224C>T c.(2224-2226)Cag>Tag p.Q742* NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 742 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) CCTGCTGGAGCAGACTGGGGC 0.632000 Hermansky-Pudlak syndrome 22 56 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10263332 10263332 + Missense_Mutation SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr17:10263332G>T ENST00000418404.3 - 6 753 c.590C>A c.(589-591)gCa>gAa p.A197E MYH13_ENST00000252172.4_Missense_Mutation_p.A197E|MYH13_ENST00000570743.1_Missense_Mutation_p.A197E Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 197 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TGCAATTGTTGCAAAATACTG 0.502000 13 88 0.000219431 0.000231727 1 1 0 DIAPH3 81624 broad.mit.edu 37 13 60544092 60544092 + Missense_Mutation SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr13:60544092C>A ENST00000400324.4 - 17 2280 c.2060G>T c.(2059-2061)tGt>tTt p.C687F DIAPH3_ENST00000377908.2_Missense_Mutation_p.C676F|DIAPH3_ENST00000400319.1_Missense_Mutation_p.C617F|DIAPH3_ENST00000400330.1_Missense_Mutation_p.C687F|DIAPH3_ENST00000400320.1_Missense_Mutation_p.C641F|DIAPH3_ENST00000267215.4_Missense_Mutation_p.C687F|DIAPH3_ENST00000465066.1_5'UTR NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 687 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) TTGTTGGCAACAAAATGTATT 0.244000 7 21 0.0293803 0.0301179 1 1 0 OR14C36 127066 broad.mit.edu 37 1 248512285 248512285 + Missense_Mutation SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:248512285G>T ENST00000317861.1 + 1 209 c.209G>T c.(208-210)tGc>tTc p.C70F NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 TTGGATGCCTGCTACATTTCT 0.493000 43 295 5.20006e-24 6.88657e-24 1 1 0 TROVE2 6738 broad.mit.edu 37 1 193038730 193038730 + Silent SNP A A G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:193038730A>G ENST00000367446.3 + 2 756 c.546A>G c.(544-546)ctA>ctG p.L182L TROVE2_ENST00000400968.2_Silent_p.L182L|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367445.3_Silent_p.L182L|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367444.3_Silent_p.L182L|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367443.1_Silent_p.L182L|TROVE2_ENST00000367441.1_Silent_p.L182L NM_004600.5 NP_004591.2 P10155 RO60_HUMAN TROVE domain family, member 2 182 TROVE. transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex protein binding|RNA binding biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1) 21 ACAAAGATCTATTAAGATTGT 0.398000 28 141 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24509790 24509790 + Missense_Mutation SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr5:24509790G>T ENST00000264463.4 - 7 1648 c.1141C>A c.(1141-1143)Cct>Act p.P381T NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 381 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AAAACAGGAGGTTCATCCACA 0.393000 HNSCC(23;0.051) 18 61 9.16793e-09 1.0595e-08 1 1 0 BTG4 54766 broad.mit.edu 37 11 111369487 111369487 + Silent SNP A A G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr11:111369487A>G ENST00000525791.1 - 2 199 c.15T>C c.(13-15)atT>atC p.I5I BTG4_ENST00000356018.2_Silent_p.I5I Q9NY30 BTG4_HUMAN B-cell translocation gene 4 5 cell cycle arrest|negative regulation of cell proliferation|neuron differentiation p.I5I(1) large_intestine(2)|upper_aerodigestive_tract(1) 3 all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509) CTGTTGTTGCAATTTCATCTC 0.303000 22 27 0 0 1 0 0 LOC101929006 101929006 broad.mit.edu 37 6 29231760 29231760 + RNA SNP A A G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr6:29231760A>G ENST00000441381.1 + 0 231 GAAATTGCATAGAAGAAAAAG 0.403000 53 161 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197053535 197053535 + Missense_Mutation SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:197053535C>G ENST00000367409.4 - 28 10609 c.10353G>C c.(10351-10353)ttG>ttC p.L3451F ASPM_ENST00000294732.7_Missense_Mutation_p.L1866F|ASPM_ENST00000367408.1_Missense_Mutation_p.L1116F NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 3451 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TATCTCTTCTCAAAACCCAAT 0.328000 9 66 0 0 1 0 0 TCL6 27004 broad.mit.edu 37 14 96135857 96135857 + RNA SNP C C T rs1748965 by1000genomes TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr14:96135857C>T ENST00000467865.1 + 0 1821 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) tgagccaccacgcccggtcac 0.542000 T TRA@ T-ALL 4 46 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43585117 43585117 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr19:43585117C>T ENST00000406487.1 - 2 444 c.346G>A c.(346-348)Gac>Aac p.D116N NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 116 Ig-like V-type. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) GATCCTGCGTCCTCCCGGGTG 0.448000 60 284 0 0 1 0 0 DCTN1 1639 broad.mit.edu 37 2 74593475 74593475 + Missense_Mutation SNP A A T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr2:74593475A>T ENST00000361874.3 - 23 2973 c.2656T>A c.(2656-2658)Tat>Aat p.Y886N DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000407639.2_Missense_Mutation_p.Y752N|DCTN1_ENST00000394003.3_Missense_Mutation_p.Y879N|DCTN1_ENST00000409868.1_Missense_Mutation_p.Y869N|DCTN1_ENST00000409567.3_Missense_Mutation_p.Y866N|DCTN1_ENST00000409438.1_Missense_Mutation_p.Y752N|DCTN1_ENST00000409240.1_Missense_Mutation_p.Y849N NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 886 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 AGACACTCATAGGGGCTGCTG 0.582000 33 60 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770192 31770192 + Missense_Mutation SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr19:31770192C>G ENST00000240587.4 - 2 834 c.507G>C c.(505-507)caG>caC p.Q169H NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 169 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CCATGGCGCTCTGGTGCCAGT 0.642000 9 33 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18883831 18883831 + Missense_Mutation SNP T T G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr16:18883831T>G ENST00000446231.2 - 14 2418 c.2006A>C c.(2005-2007)tAt>tCt p.Y669S SMG1_ENST00000389467.3_Missense_Mutation_p.Y669S Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 669 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ACAATGAGAATACAATGTGTA 0.353000 4 19 0 0 1 0 0 MKL2 57496 broad.mit.edu 37 16 14342866 14342866 + Missense_Mutation SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr16:14342866G>T ENST00000571589.1 + 13 2503 c.2331G>T c.(2329-2331)ttG>ttT p.L777F MKL2_ENST00000318282.5_Missense_Mutation_p.L727F|MKL2_ENST00000574045.1_Missense_Mutation_p.L727F|MKL2_ENST00000341243.5_Missense_Mutation_p.L766F NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 766 Gln-rich. cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCTCAGGCTTGGCCCCAACTG 0.498000 12 70 0.00244969 0.00253239 1 1 0 ZNF629 23361 broad.mit.edu 37 16 30794329 30794329 + Silent SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr16:30794329G>T ENST00000262525.4 - 3 1527 c.1320C>A c.(1318-1320)atC>atA p.I440I NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) TGGAGCTCATGATGAAGCTCT 0.617000 34 81 1.56442e-22 2.04964e-22 1 1 0 BCDIN3D 144233 broad.mit.edu 37 12 50236683 50236683 + Missense_Mutation SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr12:50236683G>A ENST00000333924.4 - 1 229 c.188C>T c.(187-189)cCc>cTc p.P63L NM_181708.2 NP_859059.1 Q7Z5W3 BN3D2_HUMAN BCDIN3 domain containing 63 Bin3-type SAM. methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1) 9 CCCGTTCTCGGGACTCTCAGG 0.617000 48 104 0 0 1 0 0 PHACTR3 116154 broad.mit.edu 37 20 58381109 58381109 + Silent SNP G G C TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr20:58381109G>C ENST00000371015.1 + 8 1655 c.1188G>C c.(1186-1188)cgG>cgC p.R396R PHACTR3_ENST00000355648.4_Silent_p.R355R|PHACTR3_ENST00000395639.4_Silent_p.R285R|PHACTR3_ENST00000395636.2_Silent_p.R355R|PHACTR3_ENST00000541461.1_Silent_p.R355R|PHACTR3_ENST00000361300.4_Silent_p.R285R|PHACTR3_ENST00000359926.3_Silent_p.R393R NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 396 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CACTGCCACGGAAATGCAAGA 0.537000 86 286 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62198235 62198235 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr20:62198235C>T ENST00000467148.1 - 6 2545 c.2476G>A c.(2476-2478)Gag>Aag p.E826K HELZ2_ENST00000427522.2_Missense_Mutation_p.E257K NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CACCTCTGCTCGCGGCCGCCC 0.687000 20 59 0 0 1 0 0 EVA1B 55194 broad.mit.edu 37 1 36788625 36788625 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:36788625C>T ENST00000270824.1 - 2 305 c.14G>A c.(13-15)cGa>cAa p.R5Q EVA1B_ENST00000490466.1_5'UTR|SH3D21_ENST00000474766.1_Intron NM_018166.1 NP_060636.1 eva-1 homolog B (C. elegans) CATGTCCCTTCGCGGGGCATC 0.672000 19 38 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76450734 76450734 + Silent SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr17:76450734G>A ENST00000389840.5 - 64 10306 c.10182C>T c.(10180-10182)gaC>gaT p.D3394D DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.D3403D dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCACGTCCGCGTCATCTGTCA 0.622000 15 65 0 0 1 0 0 ZNF816 125893 broad.mit.edu 37 19 53454016 53454016 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr19:53454016C>T ENST00000357666.4 - 5 1312 c.1012G>A c.(1012-1014)Gag>Aag p.E338K ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.E338K|ZNF816_ENST00000434371.2_Intron NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 TAAGGTTTCTCTCCAGTATGA 0.413000 109 181 0 0 1 0 0 LOC401127 401127 broad.mit.edu 37 4 39482684 39482684 + RNA SNP A A C rs2260645 by1000genomes TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr4:39482684A>C ENST00000513652.1 + 0 691 TCTGGGACACAGCCTCAGGCC 0.512000 4 62 0 0 1 0 0 TNKS 8658 broad.mit.edu 37 8 9609263 9609263 + Missense_Mutation SNP G G C TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr8:9609263G>C ENST00000310430.6 + 19 3003 c.2977G>C c.(2977-2979)Gac>Cac p.D993H TNKS_ENST00000518281.1_Missense_Mutation_p.D756H NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 993 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) CAGCAGCATAGACAACCTCAC 0.572000 56 166 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104440393 104440393 + Missense_Mutation SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chrX:104440393G>A ENST00000372582.1 + 3 1075 c.319G>A c.(319-321)Gag>Aag p.E107K IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E107K NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 107 Ig-like C2-type 1. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TCACTCAGCTGAGGCACAAGA 0.423000 5 101 0 0 1 0 0 SPICE1 152185 broad.mit.edu 37 3 113172770 113172770 + Missense_Mutation SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr3:113172770G>A ENST00000295872.4 - 14 1944 c.1685C>T c.(1684-1686)cCt>cTt p.P562L NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 562 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 TCGTGGAGCAGGACGAGTTTG 0.338000 19 55 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92624096 92624096 + Silent SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr11:92624096C>A ENST00000298047.6 + 27 13604 c.13587C>A c.(13585-13587)ggC>ggA p.G4529G FAT3_ENST00000533797.1_Silent_p.G832G|FAT3_ENST00000525166.1_Silent_p.G4379G|FAT3_ENST00000409404.2_Silent_p.G4497G Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4529 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGCCCACAGGCCCAGCAGACA 0.557000 TCGA Ovarian(4;0.039) 26 15 3.08376e-08 3.51405e-08 1 1 0 LVRN 206338 broad.mit.edu 37 5 115298371 115298371 + Silent SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr5:115298371G>A ENST00000357872.4 + 1 181 c.57G>A c.(55-57)ctG>ctA p.L19L AQPEP_ENST00000395528.2_5'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 19 proteolysis integral to membrane metallopeptidase activity|zinc ion binding CCCTGCTGCTGGCTGGGCTGG 0.701000 5 44 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27800981 27800981 + Silent SNP A A G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr2:27800981A>G ENST00000408964.2 + 1 1593 c.1542A>G c.(1540-1542)aaA>aaG p.K514K NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 514 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) AATCTGTGAAAGTGACCCCTG 0.418000 50 101 0 0 1 0 0 FAM83G 644815 broad.mit.edu 37 17 18907093 18907093 + Missense_Mutation SNP G G C TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr17:18907093G>C ENST00000388995.6 - 2 485 c.262C>G c.(262-264)Cag>Gag p.Q88E SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.Q88E|FAM83G_ENST00000345041.4_Missense_Mutation_p.Q88E A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 88 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 TCGGGCCCCTGAGAGGGGCCC 0.701000 6 24 0 0 1 0 0 LVRN 206338 broad.mit.edu 37 5 115298372 115298372 + Missense_Mutation SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr5:115298372G>T ENST00000357872.4 + 1 182 c.58G>T c.(58-60)Gct>Tct p.A20S AQPEP_ENST00000395528.2_5'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 20 proteolysis integral to membrane metallopeptidase activity|zinc ion binding CCTGCTGCTGGCTGGGCTGGT 0.701000 6 43 6.72482e-11 8.11617e-11 1 1 0 FANCM 57697 broad.mit.edu 37 14 45654507 45654507 + Missense_Mutation SNP G G C TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr14:45654507G>C ENST00000267430.5 + 18 4688 c.4603G>C c.(4603-4605)Gaa>Caa p.E1535Q FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Missense_Mutation_p.E1509Q NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1535 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TGATGAGTCAGAAAATGAACA 0.299000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 5 23 0 0 1 0 0 DDX20 11218 broad.mit.edu 37 1 112298676 112298676 + Missense_Mutation SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:112298676C>G ENST00000369702.4 + 1 750 c.130C>G c.(130-132)Cag>Gag p.Q44E DDX20_ENST00000536167.1_Missense_Mutation_p.Q44E NM_007204.4 NP_009135.4 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 44 assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCGGACCGCTCAGGATCTCAG 0.692000 3 21 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98378573 98378573 + Missense_Mutation SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr2:98378573G>A ENST00000186436.5 - 36 5042 c.4814C>T c.(4813-4815)cCg>cTg p.P1605L NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1605 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TGGGGGAGACGGGGAAGCAGG 0.547000 13 34 0 0 1 0 0 CARS2 79587 broad.mit.edu 37 13 111329336 111329336 + Missense_Mutation SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr13:111329336C>A ENST00000257347.4 - 7 833 c.770G>T c.(769-771)tGc>tTc p.C257F CARS2_ENST00000535398.1_5'UTR NM_024537.2 NP_078813.1 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial (putative) 257 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1) 13 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) GATGGCAGAGCACTCGATGTG 0.662000 17 85 2.23348e-06 2.46488e-06 1 1 0 PRSS3P2 154754 broad.mit.edu 37 7 142481789 142481789 + RNA SNP T T C rs140267598 by1000genomes TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr7:142481789T>C ENST00000603901.1 + 0 468 NR_001296.3 ACTACCCAGATGAGCTGCAGT 0.488000 8 51 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25457243 25457243 + Missense_Mutation SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr2:25457243G>A ENST00000264709.3 - 23 2981 c.2644C>T c.(2644-2646)Cgc>Tgc p.R882C DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659C|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882C|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693C NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 882 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding p.R882C(93)|p.R882S(8) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCGCCAAGCGGCTCATGTTG 0.597000 """Mis, F, N, S""" AML 4 70 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678341 100678341 + Missense_Mutation SNP G G C TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr7:100678341G>C ENST00000306151.4 + 3 3708 c.3644G>C c.(3643-3645)gGa>gCa p.G1215A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1215 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCAACTCCTGGAGAAAGAAGC 0.517000 59 696 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 706454 706454 + Missense_Mutation SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr16:706454G>T ENST00000549091.1 + 18 2211 c.2119G>T c.(2119-2121)Gcc>Tcc p.A707S WDR90_ENST00000293879.4_Missense_Mutation_p.A707S NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 707 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GTTGGCCCTCGCCATGGAGCA 0.701000 2 10 0.0784 0.0797012 1 1 0 FOCAD 54914 broad.mit.edu 37 9 20789607 20789607 + Splice_Site SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr9:20789607G>T ENST00000380249.1 + 13 1819 c.1455_splice c.e13+1 p.Q485_splice FOCAD_ENST00000338382.6_Splice_Site_p.Q485_splice NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 485 integral to membrane binding ATTCCTCCCAGGTAAAGCAAG 0.383000 33 65 2.48696e-23 3.27583e-23 1 1 0 CKAP4 10970 broad.mit.edu 37 12 106633263 106633263 + Missense_Mutation SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr12:106633263C>A ENST00000378026.4 - 2 1484 c.1348G>T c.(1348-1350)Gcc>Tcc p.A450S NM_006825.3 NP_006816.2 Q07065 CKAP4_HUMAN cytoskeleton-associated protein 4 450 ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1) 20 CCCTGCAGGGCGGCCAGGCGC 0.692000 20 61 5.35267e-07 5.96092e-07 1 1 0 MUC16 94025 broad.mit.edu 37 19 9076273 9076273 + Silent SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr19:9076273G>A ENST00000397910.4 - 3 11376 c.11173C>T c.(11173-11175)Ctg>Ttg p.L3725L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3726 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAAGTGGACAGGGGCGTATTT 0.493000 53 78 0 0 1 0 0 ACAP3 116983 broad.mit.edu 37 1 1235383 1235383 + Silent SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:1235383C>A ENST00000354700.5 - 8 835 c.633G>T c.(631-633)ctG>ctT p.L211L ACAP3_ENST00000353662.3_Silent_p.L169L NM_030649.2 NP_085152.2 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 211 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 TGTAGGGGTCCAGCTGGTGCA 0.647000 18 21 1.56452e-12 1.92617e-12 1 1 0 ISCA1 81689 broad.mit.edu 37 9 88887029 88887029 + Splice_Site SNP T T G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr9:88887029T>G ENST00000375991.4 - 3 206 c.e3-2 ISCA1_ENST00000452279.2_Splice_Site|ISCA1_ENST00000311534.6_Splice_Site|ISCA1_ENST00000326094.4_Splice_Site NM_030940.3 NP_112202.2 Q9BUE6 ISCA1_HUMAN iron-sulfur cluster assembly 1 iron-sulfur cluster assembly mitochondrion iron-sulfur cluster binding|metal ion binding|structural molecule activity endometrium(2)|large_intestine(1)|lung(4)|pancreas(1) 8 OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375) TACACCTACCTGAAAAAGAAG 0.343000 19 78 0 0 1 0 0 GAPVD1 26130 broad.mit.edu 37 9 128099631 128099631 + Missense_Mutation SNP A A T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr9:128099631A>T ENST00000470056.1 + 15 2798 c.2638A>T c.(2638-2640)Act>Tct p.T880S GAPVD1_ENST00000312123.9_Missense_Mutation_p.T859S|GAPVD1_ENST00000394104.2_Missense_Mutation_p.T880S|GAPVD1_ENST00000495955.1_Missense_Mutation_p.T880S|GAPVD1_ENST00000394105.2_Missense_Mutation_p.T907S|GAPVD1_ENST00000265956.4_Missense_Mutation_p.T854S|GAPVD1_ENST00000297933.6_Missense_Mutation_p.T880S|GAPVD1_ENST00000394083.2_Missense_Mutation_p.T859S Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 880 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 ccatgttttaactccagctga 0.502000 33 64 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95483458 95483458 + Missense_Mutation SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr12:95483458G>A ENST00000343958.4 - 18 4088 c.3865C>T c.(3865-3867)Cct>Tct p.P1289S FGD6_ENST00000546711.1_Missense_Mutation_p.P1289S NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 1289 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 CCAATCCTAGGGGAGTGCTGG 0.403000 70 161 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141734094 141734094 + Missense_Mutation SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr7:141734094C>G ENST00000475668.2 + 15 1756 c.1702C>G c.(1702-1704)Ctc>Gtc p.L568V MGAM_ENST00000549489.2_Missense_Mutation_p.L568V O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 568 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTGCAAGACTCTCTGTATGGA 0.488000 3 12 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5530488 5530488 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr11:5530488C>T ENST00000311659.4 - 2 448 c.301G>A c.(301-303)Gag>Aag p.E101K HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 101 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTGGGCACTCATTGCCCATG 0.587000 17 65 0 0 1 0 0 TMEM104 54868 broad.mit.edu 37 17 72832527 72832527 + Missense_Mutation SNP G G C TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr17:72832527G>C ENST00000335464.5 + 10 1354 c.1192G>C c.(1192-1194)Gtc>Ctc p.V398L TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.V398L|TMEM104_ENST00000582773.1_Intron NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 398 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) GGTGGACCGCGTCGTGTTTCC 0.652000 21 90 0 0 1 0 0 HOXA13 3209 broad.mit.edu 37 7 27239096 27239096 + Missense_Mutation SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr7:27239096C>A ENST00000222753.4 - 1 629 c.601G>T c.(601-603)Gcc>Tcc p.A201S HOTTIP_ENST00000421733.1_RNA NM_000522.4 NP_000513.2 P31271 HXA13_HUMAN homeobox A13 201 Poly-Ala. skeletal system development nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 6 gcggcggcggcggccgaggcg 0.706000 T NUP98 AML 6 26 5.9392e-07 6.58418e-07 1 1 0 GTF3C1 2975 broad.mit.edu 37 16 27481533 27481533 + Silent SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr16:27481533G>A ENST00000356183.4 - 31 4725 c.4710C>T c.(4708-4710)gcC>gcT p.A1570A GTF3C1_ENST00000561623.1_Silent_p.A1570A NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1570 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GGGTCAGGACGGCCACACAAT 0.522000 27 156 0 0 1 0 0 OR8K5 219453 broad.mit.edu 37 11 55927292 55927292 + Missense_Mutation SNP A A C TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr11:55927292A>C ENST00000313447.1 - 1 501 c.502T>G c.(502-504)Ttc>Gtc p.F168V NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) GAGCCACAGAAGGTCAATGTA 0.383000 6 133 0 0 1 0 0 ZFP36 7538 broad.mit.edu 37 19 39898886 39898886 + Silent SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr19:39898886C>G ENST00000597629.1 + 2 620 c.546C>G c.(544-546)ggC>ggG p.G182G ZFP36_ENST00000248673.3_Silent_p.G176G P26651 TTP_HUMAN ZFP36 ring finger protein 176 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGGCCCCGGGCCACCCTCCTG 0.672000 32 135 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11132545 11132545 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr19:11132545C>T ENST00000358026.2 + 19 3045 c.2761C>T c.(2761-2763)Ctc>Ttc p.L921F SMARCA4_ENST00000589677.1_Missense_Mutation_p.L921F|SMARCA4_ENST00000413806.3_Missense_Mutation_p.L921F|SMARCA4_ENST00000590574.1_Missense_Mutation_p.L921F|SMARCA4_ENST00000541122.2_Missense_Mutation_p.L921F|SMARCA4_ENST00000444061.3_Missense_Mutation_p.L921F|SMARCA4_ENST00000450717.3_Missense_Mutation_p.L921F|SMARCA4_ENST00000429416.3_Missense_Mutation_p.L921F|SMARCA4_ENST00000344626.4_Missense_Mutation_p.L921F NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 921 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GCTTCCCGAGCTCTGGGCGCT 0.607000 """F, N, Mis""" NSCLC 14 37 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47591392 47591392 + Silent SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr20:47591392C>T ENST00000371917.4 + 13 1755 c.1755C>T c.(1753-1755)ccC>ccT p.P585P NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 585 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) ATGTGAATCCCAACCACCAGA 0.522000 9 29 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801588 185801588 + Nonsense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr2:185801588C>T ENST00000302277.6 + 4 2059 c.1465C>T c.(1465-1467)Cag>Tag p.Q489* NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 489 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TCAGCAGAAGCAGGAAGACAT 0.343000 55 170 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153694503 153694503 + Missense_Mutation SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chrX:153694503G>A ENST00000369682.3 + 15 2864 c.2689G>A c.(2689-2691)Gag>Aag p.E897K NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 897 IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GATCGTGTGTGAGATGGAGGA 0.667000 20 13 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108170486 108170486 + Missense_Mutation SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr11:108170486C>G ENST00000278616.4 + 34 5436 c.5051C>G c.(5050-5052)tCt>tGt p.S1684C ATM_ENST00000452508.2_Missense_Mutation_p.S1684C NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1684 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.F1683fs*7(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ATAGATTTCTCTACCATAGCT 0.368000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 78 102 0 0 1 0 0 BEND7 222389 broad.mit.edu 37 10 13541911 13541911 + Silent SNP G G A rs148828275 byFrequency TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr10:13541911G>A ENST00000341083.3 - 3 455 c.159C>T c.(157-159)gcC>gcT p.A53A BEND7_ENST00000396900.2_Silent_p.A105A|BEND7_ENST00000378605.3_Silent_p.A53A|BEND7_ENST00000396898.2_Silent_p.A105A NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 105 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 GGCTTTGCGGGGCCTCAGCAG 0.552000 42 71 0 0 1 0 0 BBS4 585 broad.mit.edu 37 15 73022005 73022005 + Missense_Mutation SNP T T A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr15:73022005T>A ENST00000268057.4 + 10 732 c.691T>A c.(691-693)Tat>Aat p.Y231N BBS4_ENST00000542334.1_Missense_Mutation_p.Y59N|BBS4_ENST00000395205.2_Missense_Mutation_p.Y239N|BBS4_ENST00000539603.1_Missense_Mutation_p.Y219N NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 231 Interaction with PCM1. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 TGCACTGACTTATGACCCTAC 0.458000 Bardet-Biedl syndrome 27 109 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42860128 42860128 + Missense_Mutation SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr19:42860128G>T ENST00000334370.4 + 23 4797 c.4162G>T c.(4162-4164)Gcc>Tcc p.A1388S MEGF8_ENST00000251268.6_Missense_Mutation_p.A1455S NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1455 CUB 2. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GAACTGCAATGCCCACACTGG 0.642000 3 28 1 1 1 1 0 TYK2 7297 broad.mit.edu 37 19 10468715 10468715 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr19:10468715C>T ENST00000525621.1 - 16 2756 c.2275G>A c.(2275-2277)Gat>Aat p.D759N TYK2_ENST00000264818.6_Missense_Mutation_p.D759N|TYK2_ENST00000529370.1_Missense_Mutation_p.D759N|TYK2_ENST00000524462.1_Missense_Mutation_p.D574N NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 759 Protein kinase 1. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) ACGCCAGGATCACTCAGCTTG 0.637000 8 30 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55933888 55933888 + Nonsense_Mutation SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr6:55933888C>A ENST00000244728.5 - 22 2444 c.2047G>T c.(2047-2049)Gga>Tga p.G683* COL21A1_ENST00000370808.2_Nonsense_Mutation_p.G83*|COL21A1_ENST00000370819.1_Nonsense_Mutation_p.G680*|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.G683*|COL21A1_ENST00000467045.1_5'UTR NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 683 Collagen-like 4. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CCTGGTTCTCCTGGGGAACCC 0.423000 3 19 0.150653 0.151271 1 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18829862 18829862 + Missense_Mutation SNP A A T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr9:18829862A>T ENST00000380548.4 + 23 4475 c.4136A>T c.(4135-4137)cAg>cTg p.Q1379L ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.Q80L NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 1379 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GTCCCCACACAGTTGGAAGAC 0.572000 16 39 0 0 1 0 0 KBTBD8 84541 broad.mit.edu 37 3 67054205 67054205 + Missense_Mutation SNP A A T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr3:67054205A>T ENST00000295568.4 + 3 867 c.736A>T c.(736-738)Aac>Tac p.N246Y KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Missense_Mutation_p.N272Y|KBTBD8_ENST00000469661.1_3'UTR NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 272 BACK. breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) GGGACCATCCAACACCAATGG 0.433000 52 143 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218912 130218912 + Silent SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chrX:130218912C>T ENST00000276211.5 + 7 1174 c.829C>T c.(829-831)Ctg>Ttg p.L277L ARHGAP36_ENST00000370922.1_Silent_p.L265L|ARHGAP36_ENST00000370921.1_Silent_p.L141L NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 277 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TGATCAAGGTCTGGATGTAGT 0.493000 68 72 0 0 1 0 0 FCHO1 23149 broad.mit.edu 37 19 17895613 17895613 + Nonsense_Mutation SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr19:17895613C>G ENST00000594202.1 + 26 2585 c.2306C>G c.(2305-2307)tCa>tGa p.S769* FCHO1_ENST00000600676.1_Nonsense_Mutation_p.S769*|FCHO1_ENST00000539407.1_Nonsense_Mutation_p.S769*|FCHO1_ENST00000596536.1_Nonsense_Mutation_p.S769*|FCHO1_ENST00000595033.1_Nonsense_Mutation_p.S719*|FCHO1_ENST00000597512.1_Nonsense_Mutation_p.S776*|FCHO1_ENST00000252771.7_Nonsense_Mutation_p.S769*|FCHO1_ENST00000389133.4_Nonsense_Mutation_p.S769*|FCHO1_ENST00000596951.1_Nonsense_Mutation_p.S769* NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 769 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 ACCCAGGTCTCAGTGGAGTAC 0.642000 OREG0025350 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 150 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22807071 22807071 + Nonsense_Mutation SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr18:22807071C>A ENST00000361524.3 - 4 959 c.811G>T c.(811-813)Gaa>Taa p.E271* ZNF521_ENST00000538137.2_Nonsense_Mutation_p.E271*|ZNF521_ENST00000584787.1_Nonsense_Mutation_p.E51* NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 271 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GGGGAGCATTCGGGGTGGCAC 0.557000 T PAX5 ALL 36 50 2.20474e-14 2.77005e-14 1 1 0 MYO1D 4642 broad.mit.edu 37 17 31107652 31107652 + Silent SNP C C T rs142146727 by1000genomes TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr17:31107652C>T ENST00000318217.5 - 2 550 c.246G>A c.(244-246)gcG>gcA p.A82A MYO1D_ENST00000394649.4_5'UTR|MYO1D_ENST00000579584.1_Silent_p.A82A|MYO1D_ENST00000583621.1_Silent_p.A82A NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 82 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) AAGCAGCATCCGCAATAGCAA 0.438000 31 88 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363874 22363874 + Silent SNP A A G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr19:22363874A>G ENST00000397121.2 - 3 962 c.645T>C c.(643-645)caT>caC p.H215H NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 215 KFSILTKHKVIHT -> WSSSLTEHKRIHA (in Ref. 2; BAC05174). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GAATTACCTTATGTTTAGTAA 0.343000 23 82 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154542918 154542918 + Missense_Mutation SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr4:154542918G>T ENST00000409663.3 + 28 3825 c.3773G>T c.(3772-3774)tGg>tTg p.W1258L KIAA0922_ENST00000409959.3_Missense_Mutation_p.W1259L|KIAA0922_ENST00000440693.1_Missense_Mutation_p.W1175L NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 1258 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) GTAAGAAGCTGGTGTATACAG 0.468000 23 59 3.83957e-06 4.18086e-06 1 1 0 DMXL2 23312 broad.mit.edu 37 15 51791155 51791155 + Silent SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr15:51791155C>T ENST00000251076.5 - 18 4553 c.4266G>A c.(4264-4266)gaG>gaA p.E1422E DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Silent_p.E1422E NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1422 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TAGAATCTATCTCAGTATAAT 0.403000 11 227 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101706034 101706034 + Silent SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr12:101706034G>A ENST00000261637.4 + 21 2706 c.2532G>A c.(2530-2532)ccG>ccA p.P844P NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 844 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding p.P844P(1) NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 AGCTTTCCCCGCTTTTCTTGA 0.468000 36 112 0 0 1 0 0 OR2T11 127077 broad.mit.edu 37 1 248789800 248789800 + Missense_Mutation SNP G G C TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:248789800G>C ENST00000330803.2 - 1 691 c.630C>G c.(628-630)atC>atG p.I210M NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAGTGGAGATGATAGAGATGG 0.502000 10 163 0 0 1 0 0 SH2D2A 9047 broad.mit.edu 37 1 156777073 156777073 + Missense_Mutation SNP T T G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:156777073T>G ENST00000392306.2 - 8 1236 c.1097A>C c.(1096-1098)cAc>cCc p.H366P SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P|SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 356 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGGGGGCTGGTGGGGCAGGGG 0.597000 4 18 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114278688 114278688 + Missense_Mutation SNP G G T rs140076489 TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr4:114278688G>T ENST00000357077.4 + 38 8967 c.8914G>T c.(8914-8916)Gta>Tta p.V2972L ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.V2939L NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2939 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGAAGACGTTGTAGTGGCAAG 0.413000 80 235 1.75807e-36 2.36663e-36 1 1 0 LNP1 348801 broad.mit.edu 37 3 100170641 100170641 + Missense_Mutation SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr3:100170641C>G ENST00000383693.3 + 3 1515 c.235C>G c.(235-237)Cgt>Ggt p.R79G LNP1_ENST00000489752.1_Missense_Mutation_p.R92G NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 79 cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 ATTTCGATGCCGTAGCCACGT 0.428000 29 86 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 8 100 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52536021 52536021 + Splice_Site SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr3:52536021G>A ENST00000321725.6 + 4 407 c.e4-1 NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GGGGTCCACAGAATGCCCTGG 0.642000 12 62 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100900 168100900 + Nonsense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr2:168100900C>T ENST00000409195.1 + 9 3087 c.2998C>T c.(2998-3000)Caa>Taa p.Q1000* XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.Q1000*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.Q778*|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 825 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 AAAATATCATCAAGTAAAGAC 0.413000 21 108 0 0 1 0 0 ACAP3 116983 broad.mit.edu 37 1 1235384 1235384 + Missense_Mutation SNP A A G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:1235384A>G ENST00000354700.5 - 8 834 c.632T>C c.(631-633)cTg>cCg p.L211P ACAP3_ENST00000353662.3_Missense_Mutation_p.L169P NM_030649.2 NP_085152.2 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 211 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 GTAGGGGTCCAGCTGGTGCAG 0.647000 19 21 0 0 1 0 0 CYLC2 1539 broad.mit.edu 37 9 105757672 105757672 + Missense_Mutation SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr9:105757672C>A ENST00000374798.3 + 1 80 c.10C>A c.(10-12)Cca>Aca p.P4T CYLC2_ENST00000487798.1_Missense_Mutation_p.P4T NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 4 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) AATGTCTCTCCCAAGATTGTA 0.303000 27 132 4.87955e-14 6.09944e-14 1 1 0 KRT6B 3854 broad.mit.edu 37 12 52842748 52842748 + Nonsense_Mutation SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr12:52842748C>A ENST00000252252.3 - 6 1128 c.1081G>T c.(1081-1083)Gag>Tag p.E361* NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 361 Coil 2.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) TGCAGCTCCTCGTACTGCAGC 0.532000 10 34 7.03913e-09 8.17339e-09 1 1 0 FLII 2314 broad.mit.edu 37 17 18155795 18155795 + Silent SNP C C T rs148245851 byFrequency TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr17:18155795C>T ENST00000327031.4 - 10 1314 c.1089G>A c.(1087-1089)acG>acA p.T363T FLII_ENST00000545457.2_Silent_p.T309T|FLII_ENST00000379450.4_Silent_p.T278T|FLII_ENST00000579294.1_Silent_p.T352T|FLII_ENST00000578558.1_Silent_p.T363T NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 363 Interaction with LRRFIP1 and LRRFIP2. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) CCTCGATCTCCGTCAGGAAAT 0.597000 17 67 0 0 1 0 0 ABI3 51225 broad.mit.edu 37 17 47294040 47294040 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr17:47294040C>T ENST00000225941.1 + 2 763 c.265C>T c.(265-267)Cgt>Tgt p.R89C ABI3_ENST00000419580.2_Missense_Mutation_p.R89C NM_001135186.1|NM_016428.2 NP_001128658.1|NP_057512.1 Q9P2A4 ABI3_HUMAN ABI family, member 3 89 cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 12 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) GGTGGAAGCCCGTGTAAGCAC 0.642000 HNSCC(55;0.14) 5 20 0 0 1 0 0 ATN1 1822 broad.mit.edu 37 12 7048196 7048196 + Missense_Mutation SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr12:7048196G>A ENST00000356654.4 + 7 3307 c.3070G>A c.(3070-3072)Gag>Aag p.E1024K ATN1_ENST00000396684.2_Missense_Mutation_p.E1024K NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 1024 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 GCTGGCAGCTGAGAGGCAGCA 0.652000 22 74 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69965411 69965411 + Splice_Site SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr16:69965411G>A ENST00000359154.2 + 15 1622 c.e15-1 WWP2_ENST00000448661.1_Splice_Site|WWP2_ENST00000356003.2_Splice_Site|WWP2_ENST00000542271.1_Splice_Site|WWP2_ENST00000544162.1_Splice_Site|WWP2_ENST00000568684.1_Splice_Site NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TTTTTTTTCAGTCAAATGCCC 0.483000 22 57 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215956231 215956231 + Silent SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:215956231G>T ENST00000366943.2 - 53 10820 c.10434C>A c.(10432-10434)gcC>gcA p.A3478A USH2A_ENST00000307340.3_Silent_p.A3478A O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3478 Fibronectin type-III 19. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGCTGTTCCAGGCAGAAATCC 0.438000 HNSCC(13;0.011) 19 71 1.01871e-10 1.22345e-10 1 1 0 NEIL3 55247 broad.mit.edu 37 4 178274877 178274877 + Silent SNP T T A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr4:178274877T>A ENST00000264596.3 + 8 1573 c.1455T>A c.(1453-1455)tcT>tcA p.S485S RP11-376O6.2_ENST00000506895.1_RNA NM_018248.2 NP_060718.2 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 485 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) CTGGATATTCTAACAGGTATG 0.363000 Base excision repair (BER), DNA glycosylases 18 77 0 0 1 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28217255 28217255 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr21:28217255C>T ENST00000284984.2 - 1 473 c.19G>A c.(19-21)Gag>Aag p.E7K NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 7 integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) CCGAACCCCTCGGGCACAGCT 0.677000 OREG0026151 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 25 0 0 1 0 0 TEAD4 7004 broad.mit.edu 37 12 3127715 3127715 + Nonsense_Mutation SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr12:3127715G>A ENST00000359864.2 + 7 678 c.488G>A c.(487-489)tGg>tAg p.W163* TEAD4_ENST00000397122.2_Nonsense_Mutation_p.W34*|TEAD4_ENST00000358409.2_Nonsense_Mutation_p.W120* NM_003213.3 NP_003204.2 Q15561 TEAD4_HUMAN TEA domain family member 4 163 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) CCTCAGTTTTGGCAAGGAGCT 0.602000 26 66 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62319326 62319326 + Silent SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr20:62319326C>T ENST00000318100.4 + 18 2345 c.1518C>T c.(1516-1518)atC>atT p.I506I RTEL1_ENST00000360203.5_Silent_p.I506I|RTEL1_ENST00000370018.3_Silent_p.I506I|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.I506I|RTEL1_ENST00000508582.2_Silent_p.I530I Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 506 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CACACATCATCGACAAGCACC 0.647000 7 35 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17124229 17124229 + Missense_Mutation SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr11:17124229C>G ENST00000265970.7 - 23 3830 c.3831G>C c.(3829-3831)caG>caC p.Q1277H PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q897H|PIK3C2A_ENST00000531428.1_Intron NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 1277 PI3K/PI4K. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) TGCCAAACATCTGTGCATGTC 0.378000 36 109 0 0 1 0 0 SFT2D2 375035 broad.mit.edu 37 1 168211776 168211776 + Nonstop_Mutation SNP T T C TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:168211776T>C ENST00000271375.3 + 8 553 c.481T>C c.(481-483)Taa>Caa p.*161Q SFT2D2_ENST00000367825.3_3'UTR NM_199344.2 NP_955376.1 O95562 SFT2B_HUMAN SFT2 domain containing 2 0 protein transport|vesicle-mediated transport integral to membrane lung(3)|skin(1) 4 all_hematologic(923;0.215) GTGTCTTGCATAATTCATGGC 0.443000 49 212 0 0 1 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133653583 133653583 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr3:133653583C>T ENST00000310926.4 - 14 2179 c.1906G>A c.(1906-1908)Gtg>Atg p.V636M SLCO2A1_ENST00000493729.1_Missense_Mutation_p.V560M NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 636 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 GCCTTCTGCACGTTGTACTCC 0.582000 10 62 0 0 1 0 0 PIP4K2C 79837 broad.mit.edu 37 12 57994143 57994143 + Missense_Mutation SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr12:57994143C>G ENST00000354947.5 + 7 752 c.736C>G c.(736-738)Ctc>Gtc p.L246V PIP4K2C_ENST00000550465.1_Missense_Mutation_p.L228V|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.L246V|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.L198V Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 246 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Melanoma(17;0.122) TATGGACTTTCTCAACAAGAA 0.428000 14 97 0 0 1 0 0 ZNF703 80139 broad.mit.edu 37 8 37555443 37555443 + Missense_Mutation SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr8:37555443G>A ENST00000331569.4 + 2 1253 c.1024G>A c.(1024-1026)Gtg>Atg p.V342M NM_025069.1 NP_079345.1 Q9H7S9 ZN703_HUMAN zinc finger protein 703 342 Gly-rich. adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding FGFR1/ZNF703(2) breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09) GTCCGGCCTCGTGGGAGGCCA 0.721000 3 7 0 0 1 0 0 ZNF225 7768 broad.mit.edu 37 19 44635501 44635501 + Nonsense_Mutation SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr19:44635501C>G ENST00000262894.6 + 5 1014 c.734C>G c.(733-735)tCa>tGa p.S245* ZNF225_ENST00000590612.1_Nonsense_Mutation_p.S245*|ZNF225_ENST00000592780.1_3'UTR NM_013362.2 NP_037494.2 Q9UK10 ZN225_HUMAN zinc finger protein 225 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) AGTCGTAGATCAGGACTTTAT 0.413000 33 138 0 0 1 0 0 KRTAP9-2 83899 broad.mit.edu 37 17 39383164 39383164 + Nonsense_Mutation SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr17:39383164C>A ENST00000377721.3 + 1 265 c.258C>A c.(256-258)tgC>tgA p.C86* KRTAP9-2_ENST00000455970.2_Intron NM_031961.2 NP_114167.2 Q9BYQ4 KRA92_HUMAN keratin associated protein 9-2 86 17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP]. keratin filament protein binding large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CACCCTGCTGCCAGCCCACCT 0.622000 25 54 8.4185e-14 1.04697e-13 1 1 0 DOCK2 1794 broad.mit.edu 37 5 169141073 169141073 + Silent SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr5:169141073C>A ENST00000256935.8 + 18 1781 c.1701C>A c.(1699-1701)acC>acA p.T567T DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Silent_p.T59T NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 567 DHR-1. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CATACCTGACCCTTCCTTCTT 0.567000 19 80 1.28384e-07 1.43626e-07 1 1 0 DOCK10 55619 broad.mit.edu 37 2 225721646 225721646 + Missense_Mutation SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr2:225721646G>A ENST00000409592.3 - 15 1834 c.1721C>T c.(1720-1722)cCa>cTa p.P574L DOCK10_ENST00000258390.7_Missense_Mutation_p.P580L Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 580 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TCTAAACAATGGTGAAAATCT 0.308000 15 33 0 0 1 0 0 TBC1D3P5 440419 broad.mit.edu 37 17 25749148 25749148 + RNA SNP G G C TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr17:25749148G>C ENST00000586223.1 + 0 1049 NR_033892.1 TGTGACACCAGATCGTTTTCT 0.522000 7 25 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214625225 214625225 + Silent SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:214625225G>A ENST00000366956.5 - 3 461 c.267C>T c.(265-267)ttC>ttT p.F89F PTPN14_ENST00000543945.1_Silent_p.F89F NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 89 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GCTCATTAGCGAATTTGTCCA 0.473000 30 93 0 0 1 0 0 SLITRK2 84631 broad.mit.edu 37 X 144904119 144904119 + Missense_Mutation SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chrX:144904119C>A ENST00000370490.1 + 1 4431 c.176C>A c.(175-177)cCc>cAc p.P59H SLITRK2_ENST00000413937.2_Missense_Mutation_p.P59H|SLITRK2_ENST00000434188.2_Missense_Mutation_p.P59H|SLITRK2_ENST00000447897.2_Missense_Mutation_p.P59H|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P59H Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 59 integral to membrane p.P59H(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) CTGCTCCAGCCCCCCCAGTAT 0.428000 7 49 5.18039e-06 5.61591e-06 1 1 0 PRLR 5618 broad.mit.edu 37 5 35084642 35084642 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr5:35084642C>T ENST00000382002.5 - 5 729 c.303G>A c.(301-303)atG>atA p.M101I PRLR_ENST00000342362.5_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.M101I|PRLR_ENST00000513753.1_Missense_Mutation_p.M101I|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Missense_Mutation_p.M30I|PRLR_ENST00000348262.3_Missense_Mutation_p.M101I|PRLR_ENST00000310101.5_Missense_Mutation_p.M101I|PRLR_ENST00000231423.3_Missense_Mutation_p.M101I NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 101 Fibronectin type-III 1. activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CATTGACCATCATGATGTATG 0.483000 20 267 0 0 1 0 0 SDHAP1 255812 broad.mit.edu 37 3 195690117 195690117 + RNA SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr3:195690117C>T ENST00000427841.1 - 0 2325 NR_003264.2 AGTGCAGAAGCGTATAAAGAC 0.463000 2 4 0 0 1 0 0 FAM160A2 84067 broad.mit.edu 37 11 6232909 6232909 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr11:6232909C>T ENST00000265978.4 - 12 3146 c.2788G>A c.(2788-2790)Ggt>Agt p.G930S FAM160A2_ENST00000449352.2_Missense_Mutation_p.G916S|FAM160A2_ENST00000529360.1_5'UTR NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 916 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGAGCCTCACCTTGGCGTTCA 0.597000 25 82 0 0 1 0 0 DOK5 55816 broad.mit.edu 37 20 53205293 53205293 + Silent SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr20:53205293C>A ENST00000262593.5 + 4 707 c.357C>A c.(355-357)atC>atA p.I119I DOK5_ENST00000395939.1_Silent_p.I11I NM_018431.3 NP_060901.2 Q9P104 DOK5_HUMAN docking protein 5 119 insulin receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1) 19 Colorectal(105;0.202) TCAATGACATCAGCCTTGGAG 0.448000 36 92 1.71298e-08 1.96112e-08 1 1 0 OR1A1 8383 broad.mit.edu 37 17 3119742 3119742 + Nonsense_Mutation SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr17:3119742C>A ENST00000304094.1 + 1 828 c.828C>A c.(826-828)taC>taA p.Y276* NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 CTGTAATGTACACGGCAGTGA 0.458000 41 168 4.01765e-15 5.07384e-15 1 1 0 RIPPLY2 134701 broad.mit.edu 37 6 84563439 84563439 + Missense_Mutation SNP G G C TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr6:84563439G>C ENST00000369689.1 + 2 272 c.121G>C c.(121-123)Gtg>Ctg p.V41L RIPPLY2_ENST00000369687.1_5'UTR NM_001009994.1 NP_001009994.1 Q5TAB7 RIPP2_HUMAN ripply transcriptional repressor 2 41 somite rostral/caudal axis specification nucleus large_intestine(2)|lung(4)|urinary_tract(1) 7 GAGACCCTGGGTGGACGCCGG 0.677000 5 12 0 0 1 0 0 DYNLL1 8655 broad.mit.edu 37 12 120935938 120935938 + Silent SNP T T C rs142759655 byFrequency TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr12:120935938T>C ENST00000392509.2 + 3 456 c.195T>C c.(193-195)taT>taC p.Y65Y DYNLL1_ENST00000242577.6_Silent_p.Y65Y|DYNLL1_ENST00000548342.1_Silent_p.Y65Y|DYNLL1_ENST00000552316.1_3'UTR|DYNLL1_ENST00000552870.1_3'UTR|DYNLL1_ENST00000549989.1_Silent_p.Y65Y|DYNLL1_ENST00000392508.2_Silent_p.Y65Y NM_001037494.1 NP_001032583.1 P63167 DYL1_HUMAN dynein, light chain, LC8-type 1 65 actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane motor activity|protein binding all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCGGTAGTTATGTGACACATG 0.423000 22 62 0 0 1 0 0 MKL2 57496 broad.mit.edu 37 16 14342867 14342867 + Missense_Mutation SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr16:14342867G>T ENST00000571589.1 + 13 2504 c.2332G>T c.(2332-2334)Gcc>Tcc p.A778S MKL2_ENST00000318282.5_Missense_Mutation_p.A728S|MKL2_ENST00000574045.1_Missense_Mutation_p.A728S|MKL2_ENST00000341243.5_Missense_Mutation_p.A767S NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 767 Gln-rich. cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CTCAGGCTTGGCCCCAACTGT 0.502000 11 68 0.00185496 0.00193389 1 1 0 KCNJ2 3759 broad.mit.edu 37 17 68171491 68171491 + Nonsense_Mutation SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr17:68171491G>A ENST00000243457.3 + 2 694 c.311G>A c.(310-312)tGg>tAg p.W104* KCNJ2_ENST00000535240.1_Nonsense_Mutation_p.W104* NM_000891.2 NP_000882.1 P63252 IRK2_HUMAN potassium inwardly-rectifying channel, subfamily J, member 2 104 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1) 25 Breast(10;1.64e-08) TGTGTGTTTTGGTTGATAGCT 0.527000 38 124 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80053285 80053285 + Missense_Mutation SNP A A G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr17:80053285A>G ENST00000306749.2 - 3 409 c.191T>C c.(190-192)tTc>tCc p.F64S NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 64 Beta-ketoacyl synthase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GACTCCGAAGAAGGAGGCATC 0.622000 18 57 0 0 1 0 0 PGBD1 84547 broad.mit.edu 37 6 28269795 28269795 + Nonsense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr6:28269795C>T ENST00000405948.2 + 7 2584 c.2164C>T c.(2164-2166)Cag>Tag p.Q722* PGBD1_ENST00000259883.3_Nonsense_Mutation_p.Q722* NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 722 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 AGAAATCCCTCAGATAAGTCA 0.408000 39 133 0 0 1 0 0 ABLIM3 22885 broad.mit.edu 37 5 148620262 148620262 + Missense_Mutation SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr5:148620262C>A ENST00000506113.1 + 13 1710 c.1228C>A c.(1228-1230)Cca>Aca p.P410T ABLIM3_ENST00000326685.7_Intron|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000508983.1_Intron|RP11-331K21.1_ENST00000522685.1_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000309868.7_Missense_Mutation_p.P410T|RP11-331K21.1_ENST00000512647.2_RNA O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 410 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGGAGCTCTCCATACCATAG 0.562000 45 114 1.35964e-18 1.72596e-18 1 1 0 TTC14 151613 broad.mit.edu 37 3 180328061 180328061 + Missense_Mutation SNP G G T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr3:180328061G>T ENST00000296015.4 + 12 2176 c.2044G>T c.(2044-2046)Gtt>Ttt p.V682F TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR NM_133462.3 NP_597719.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 682 RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTGGAAGTCAGTTGAGAAATA 0.398000 36 92 3.21399e-22 4.18845e-22 1 1 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 4 8 0 0 1 0 0 BRSK2 9024 broad.mit.edu 37 11 1462057 1462057 + Silent SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr11:1462057C>T ENST00000308219.9 + 4 698 c.312C>T c.(310-312)ttC>ttT p.F104F BRSK2_ENST00000308230.5_Silent_p.F104F|BRSK2_ENST00000526678.1_Silent_p.F104F|BRSK2_ENST00000531197.1_Silent_p.F104F|BRSK2_ENST00000382179.1_Silent_p.F150F|BRSK2_ENST00000528710.1_Silent_p.F44F|BRSK2_ENST00000528841.1_Silent_p.F104F NM_001256627.1|NM_003957.3 NP_001243556.1|NP_003948.2 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 104 Protein kinase. establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(1)|lung(5) 10 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) GTGAGCTCTTCGACTACCTGG 0.622000 3 7 0 0 1 0 0 DHX29 54505 broad.mit.edu 37 5 54557208 54557208 + Missense_Mutation SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr5:54557208C>A ENST00000251636.5 - 25 4096 c.3948G>T c.(3946-3948)tgG>tgT p.W1316C RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 1316 ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) GAAAATAGATCCAGCCATCAA 0.318000 29 103 3.73148e-12 4.57106e-12 1 1 0 SLC12A2 6558 broad.mit.edu 37 5 127471499 127471499 + Splice_Site SNP A A G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr5:127471499A>G ENST00000262461.2 + 7 1596 c.1408_splice c.e7+1 p.K469_splice SLC12A2_ENST00000343225.4_Splice_Site_p.K469_splice NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 469 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) TTGGTTATAAATGTAAGTAAA 0.294000 14 45 0 0 1 0 0 SCUBE2 57758 broad.mit.edu 37 11 9077431 9077431 + Missense_Mutation SNP C C G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr11:9077431C>G ENST00000457346.2 - 10 1190 c.1116G>C c.(1114-1116)agG>agC p.R372S SCUBE2_ENST00000520467.1_Missense_Mutation_p.R372S|SCUBE2_ENST00000309263.3_Missense_Mutation_p.R372S|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Missense_Mutation_p.R372S Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 372 EGF-like 8; calcium-binding (Potential). extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) GGTCACAGGTCCTATCCAAAG 0.502000 44 114 0 0 1 0 0 SLC39A5 283375 broad.mit.edu 37 12 56631422 56631422 + Silent SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr12:56631422C>T ENST00000266980.4 + 11 1823 c.1530C>T c.(1528-1530)ctC>ctT p.L510L SLC39A5_ENST00000454355.2_Silent_p.L510L|SLC39A5_ENST00000419232.1_3'UTR NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 510 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCCATGTGCTCCTGCAGGGGC 0.647000 7 79 0 0 1 0 0 KRTAP19-5 337972 broad.mit.edu 37 21 31874354 31874354 + Missense_Mutation SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr21:31874354C>A ENST00000334151.2 - 1 81 c.55G>T c.(55-57)Gat>Tat p.D19Y NM_181611.1 NP_853642.1 Q3LI72 KR195_HUMAN keratin associated protein 19-5 19 intermediate filament protein binding endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1) 12 CCCAGGTCATCGAAGCCTCCG 0.587000 41 140 6.99958e-10 8.20525e-10 1 1 0 OR5L1 219437 broad.mit.edu 37 11 55579082 55579082 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr11:55579082C>T ENST00000333973.2 + 1 229 c.140C>T c.(139-141)gCa>gTa p.A47V NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) GGCATGATTGCACTGATTCAG 0.488000 96 276 0 0 1 0 0 TPX2 22974 broad.mit.edu 37 20 30345332 30345332 + Missense_Mutation SNP A A G TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr20:30345332A>G ENST00000340513.4 + 3 581 c.53A>G c.(52-54)aAt>aGt p.N18S TPX2_ENST00000300403.6_Missense_Mutation_p.N18S Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 18 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) GATTTCATCAATTTTTCATCC 0.403000 6 120 0 0 1 0 0 KRT16P6 353194 broad.mit.edu 37 17 16722834 16722834 + RNA SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr17:16722834C>A ENST00000417510.1 - 0 979 GCCATCTTCTCGTACTGGTCA 0.552000 35 132 1.36615e-20 1.76161e-20 1 1 0 SLC2A10 81031 broad.mit.edu 37 20 45362400 45362400 + Missense_Mutation SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr20:45362400C>A ENST00000359271.2 + 5 1803 c.1553C>A c.(1552-1554)aCc>aAc p.T518N NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 518 T -> A (in dbSNP:rs6018008). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) GACAGGTTCACCCTGAGCTTT 0.617000 15 66 3.41278e-10 4.03928e-10 1 1 0 PRELP 5549 broad.mit.edu 37 1 203453287 203453287 + Splice_Site SNP T T A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:203453287T>A ENST00000343110.2 + 2 1100 c.e2+2 NM_002725.3|NM_201348.1 NP_002716.1|NP_958505.1 P51888 PRELP_HUMAN proline/arginine-rich end leucine-rich repeat protein skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 BRCA - Breast invasive adenocarcinoma(75;0.109) GCATCGAGAGTGAGTGGGGTG 0.577000 29 46 0 0 1 0 0 RNF150 57484 broad.mit.edu 37 4 142053999 142053999 + Translation_Start_Site SNP C C A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr4:142053999C>A ENST00000306799.3 - 0 617 RNF150_ENST00000420921.2_Intron|RNF150_ENST00000507500.1_De_novo_Start_OutOfFrame NM_020724.1 NP_065775.1 Q9ULK6 RN150_HUMAN ring finger protein 150 integral to membrane zinc ion binding breast(1)|large_intestine(10)|lung(7)|ovary(1) 19 all_hematologic(180;0.162) cccccgcgccctccctccgtc 0.711000 7 24 8.12818e-05 8.69609e-05 1 1 0 SLC43A3 29015 broad.mit.edu 37 11 57193106 57193106 + Silent SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr11:57193106G>A ENST00000395123.2 - 4 526 c.222C>T c.(220-222)ttC>ttT p.F74F SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000529554.1_Silent_p.F74F|SLC43A3_ENST00000533524.1_Silent_p.F87F|SLC43A3_ENST00000352187.1_Silent_p.F74F|SLC43A3_ENST00000395124.1_Silent_p.F74F NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 74 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 ACCCCAGGGTGAAGATGAGTG 0.527000 12 48 0 0 1 0 0 SYT2 127833 broad.mit.edu 37 1 202568423 202568425 + In_Frame_Del DEL TCT TCT - rs151217119 TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr1:202568423_202568425delTCT ENST00000367267.1 - 8 1166_1168 c.974_976delAGA c.(973-978)aca>a p.KT325del SYT2_ENST00000367268.4_In_Frame_Del_p.KT325del NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 325 C2 2.|Phospholipid binding (By similarity). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) TTCACGGTTGTCTTCTTCTTCTT 0.547 30 274 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142481743 142481745 + RNA DEL CTA CTA - TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr7:142481743_142481745delCTA ENST00000603901.1 + 0 454 NR_001296.3 ACCCACATTTCTACTTTCTTTAT 0.517 20 52 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)ggfs p.R2703fs PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2704 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGCCCAGCCTTTTTTTCCCA 0.498 Non-homologous end-joining 8 585 --- --- --- --- MUC5B 727897 broad.mit.edu 37 11 1271930 1271930 + Frame_Shift_Del DEL C C - TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr11:1271930delC ENST00000447027.1 + 31 13887 c.13829delC c.(13828-13830)tcfs p.S4611fs MUC5B_ENST00000529681.1_Frame_Shift_Del_p.S4608fs Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4608 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACCCCCTCCTCCAGCCCAGGG 0.652 18 90 --- --- --- --- BACE1 23621 broad.mit.edu 37 11 117165845 117165863 + Splice_Site DEL ACCCTGGCAATCTCAGCAT ACCCTGGCAATCTCAGCAT - TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr11:117165845_117165863delACCCTGGCAATCTCAGCAT ENST00000313005.6 - 3 1011_1028 c.567_splice c.e3+1 p.F184_splice BACE1_ENST00000528053.1_Splice_Site_p.F184_splice|BACE1_ENST00000514464.1_Intron|BACE1_ENST00000513780.1_Splice_Site_p.F184_splice|BACE1_ENST00000445823.2_Intron|BACE1_ENST00000392937.6_Splice_Site_p.F84_splice|BACE1_ENST00000428381.2_Intron|BACE1_ENST00000510630.1_Splice_Site_p.F84_splice NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3 NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1 P56817 BACE1_HUMAN beta-site APP-cleaving enzyme 1 184 beta-amyloid metabolic process|membrane protein ectodomain proteolysis cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding p.R189M(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) TGTTCCTCTCACCCTGGCAATCTCAGCATAGGCCAGCCC 0.530 11 34 --- --- --- --- CBL 867 broad.mit.edu 37 11 119077161 119077161 + Frame_Shift_Del DEL G G - TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr11:119077161delG ENST00000264033.4 + 1 410 c.34delG c.(34-36)ggfs p.G14fs NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 14 epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CTCTGGGGCCGGGGGCGGCAG 0.721 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 2 4 --- --- --- --- OR4N4 283694 broad.mit.edu 37 15 22382920 22382921 + Frame_Shift_Ins INS - - T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr15:22382920_22382921insT ENST00000328795.4 + 1 539_540 c.448_449insT c.(448-450)tggfs p.W150fs RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GGCTCTGTGGCTTGGGGGTTTT 0.535 35 267 --- --- --- --- TJP1 7082 broad.mit.edu 37 15 30024870 30024873 + Frame_Shift_Del DEL TTTG TTTG - TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr15:30024870_30024873delTTTG ENST00000346128.6 - 14 2357_2360 c.1883_1886delCAAA c.(1882-1887)agfs p.TK628fs TJP1_ENST00000545208.2_Frame_Shift_Del_p.TK628fs|TJP1_ENST00000356107.6_Frame_Shift_Del_p.TK628fs|TJP1_ENST00000400011.2_Frame_Shift_Del_p.TK632fs NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 628 Guanylate kinase-like. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) AGCTGGAAACTTTGTTTGAACAGG 0.422 48 120 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 3 5 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372914 74372914 + RNA DEL G G - rs67181940 TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr16:74372914delG ENST00000429810.2 - 0 1404 AACGTAGtttgtttttttttt 0.433 5 7 --- --- --- --- TVP23C 201158 broad.mit.edu 37 17 15449223 15449223 + Frame_Shift_Del DEL G G - TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr17:15449223delG ENST00000584811.1 - 5 1561 c.146delC c.(145-147)ttfs p.S49fs TVP23C_ENST00000519970.1_Frame_Shift_Del_p.S27fs|TVP23C_ENST00000225576.3_Frame_Shift_Del_p.S113fs|TVP23C_ENST00000518321.1_Frame_Shift_Del_p.S113fs|TVP23C_ENST00000428082.2_Frame_Shift_Del_p.S113fs|TVP23C_ENST00000438826.3_Frame_Shift_Del_p.S113fs|TVP23C-CDRT4_ENST00000522212.2_Frame_Shift_Del_p.S113fs trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) ATTCTCTTGAGAGGACTCCTA 0.323 35 106 --- --- --- --- LOC101927060 101927060 broad.mit.edu 37 17 45128629 45128629 + RNA DEL T T - TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr17:45128629delT ENST00000575173.1 - 0 418 TTCTGGTGTGtttttttttgt 0.333 9 125 --- --- --- --- LINC01399 104310353 broad.mit.edu 37 22 35561021 35561021 + RNA DEL C C - rs71191344 TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470bfb8e-2bdd-4fba-85f5-1889e79642aa 77f8ed6d-bbbc-4962-9dfc-983216d91801 g.chr22:35561021delC ENST00000423311.1 - 0 512 ttgctccactcccacttatgg 0.507 7 6 --- --- --- ---