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 APOBEC3B 9582 broad.mit.edu 37 22 39380206 39380206 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr22:39380206C>T ENST00000402182.3 + 2 199 c.144C>T c.(142-144)ctC>ctT p.L48L APOBEC3B_ENST00000407298.3_Silent_p.L48L|APOBEC3B_ENST00000333467.3_Silent_p.L48L Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 48 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 13 Melanoma(58;0.04) GCTCAAATCTCCTTTGGGACA 0.483000 18 35 0 0 0.654019 0 0 MALAT1 378938 broad.mit.edu 37 11 65268581 65268581 + RNA SNP T T C TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr11:65268581T>C ENST00000534336.1 + 0 3349 NR_002819.2 TTAGTTGGGGTAATGAAGTAT 0.343000 21 40 0 0 0.608945 0 0 TTN 7273 broad.mit.edu 37 2 179614557 179614557 + Silent SNP T T G TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:179614557T>G ENST00000360870.5 - 46 12792 c.12570A>C c.(12568-12570)gtA>gtC p.V4190V TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3534 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAAACCATGTTACAACTGGCT 0.373000 18 32 0 0 0.575678 0 0 CXorf67 340602 broad.mit.edu 37 X 51151079 51151079 + Missense_Mutation SNP T T A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chrX:51151079T>A ENST00000342995.2 + 1 1313 c.1211T>A c.(1210-1212)gTc>gAc p.V404D chromosome X open reading frame 67 breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1) 21 TGGCATGCAGTCCGTATGCGT 0.597000 20 9 0 0 0.592651 0 0 MYO9A 4649 broad.mit.edu 37 15 72191306 72191306 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr15:72191306C>T ENST00000356056.5 - 25 4010 c.3538G>A c.(3538-3540)Gga>Aga p.G1180R MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.G1180R|MYO9A_ENST00000444904.1_Missense_Mutation_p.G1161R|MYO9A_ENST00000566885.1_Missense_Mutation_p.G800R|MYO9A_ENST00000564571.1_Missense_Mutation_p.G1180R NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1180 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GATCCATATCCCTTAATATTC 0.343000 75 108 0 0 0.870114 0 0 CLN6 54982 broad.mit.edu 37 15 68500616 68500616 + Silent SNP G G A rs140319056 byFrequency TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr15:68500616G>A ENST00000249806.5 - 7 955 c.798C>T c.(796-798)ttC>ttT p.F266F CLN6_ENST00000418702.2_Silent_p.F137F|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000566347.1_Silent_p.F203F|CLN6_ENST00000565471.1_Silent_p.F113F|CLN6_ENST00000538696.1_Silent_p.F298F NM_017882.2 NP_060352.1 Q9NWW5 CLN6_HUMAN ceroid-lipofuscinosis, neuronal 6, late infantile, variant 266 cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane protein homodimerization activity large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GGGTCAGTGCGAAGGAGGAGA 0.592000 26 87 0 0 0.717897 0 0 PKD1L2 114780 broad.mit.edu 37 16 81253771 81253771 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr16:81253771C>T ENST00000599697.1 - 1 204 c.205G>A c.(205-207)Gaa>Aaa p.E69K PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 69 C-type lectin. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding p.E69K(2) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TGGGTGCCTTCGTCCTGAATG 0.562000 33 53 0 0 0.740014 0 0 LOC442028 442028 broad.mit.edu 37 2 95552661 95552661 + RNA SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:95552661G>A ENST00000568768.1 - 0 476 TTAAACGAAGGTCTGACTCCT 0.368000 10 19 0 0 0.361761 0 0 MTG2 26164 broad.mit.edu 37 20 60770987 60770987 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr20:60770987G>A ENST00000370823.3 + 3 352 c.334G>A c.(334-336)Gga>Aga p.G112R MTG2_ENST00000436421.2_Missense_Mutation_p.G112R|MTG2_ENST00000536470.1_5'UTR NM_015666.3 NP_056481.1 mitochondrial ribosome-associated GTPase 2 AGGCAACGGTGGACACGTCAT 0.607000 22 58 0 0 0.667858 0 0 CHMP5 51510 broad.mit.edu 37 9 33280807 33280807 + Splice_Site SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr9:33280807G>A ENST00000419016.2 + 7 537 c.496_splice c.e7-1 p.G166_splice CHMP5_ENST00000487080.1_3'UTR|CHMP5_ENST00000223500.8_Splice_Site_p.D204_splice NM_001195536.1 NP_001182465.1 Q9NZZ3 CHMP5_HUMAN charged multivesicular body protein 5 0 cellular membrane organization|protein transport cytosol|endosome membrane protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1) 10 LUSC - Lung squamous cell carcinoma(29;0.00506) CTTTTTACAGGATGGAGTTCT 0.313000 14 101 0 0 0.520397 0 0 IL10RB 3588 broad.mit.edu 37 21 34668534 34668534 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr21:34668534C>T ENST00000290200.2 + 7 958 c.850C>T c.(850-852)Cca>Tca p.P284S NM_000628.4 NP_000619.3 interleukin 10 receptor, beta endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 TTTCTCCTTTCCATTGTCGGA 0.448000 51 67 0 0 0.870114 0 0 OR2T3 343173 broad.mit.edu 37 1 248637245 248637245 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:248637245C>T ENST00000359594.2 + 1 619 c.594C>T c.(592-594)tcC>tcT p.S198S NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 198 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) CTGACGTCTCCCTCTATAAGA 0.522000 33 48 0 0 0.796494 0 0 COL6A6 131873 broad.mit.edu 37 3 130286982 130286982 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr3:130286982G>A ENST00000358511.6 + 5 1966 c.1935G>A c.(1933-1935)atG>atA p.M645I COL6A6_ENST00000453409.2_Missense_Mutation_p.M645I NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 645 Nonhelical region.|VWFA 4. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 AAACATTTATGAAAAACCTGG 0.423000 41 75 0 0 0.853193 0 0 RSAD1 55316 broad.mit.edu 37 17 48559550 48559550 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr17:48559550C>T ENST00000258955.2 + 4 658 c.573C>T c.(571-573)cgC>cgT p.R191R NM_018346.1 NP_060816.1 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 1 191 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) TTCCCGGGCGCGTGTCTGTAG 0.667000 OREG0024567 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 52 0 0 0.387290 0 0 SMPD4P1 645280 broad.mit.edu 37 22 20970673 20970673 + RNA SNP C C G TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr22:20970673C>G ENST00000443839.1 - 0 1951 AGAGAAGTGTCGCTTCAGGGG 0.587000 5 13 0 0 0.217242 0 0 CYP2C9 1559 broad.mit.edu 37 10 96741004 96741004 + Silent SNP G G A rs56718285 TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr10:96741004G>A ENST00000260682.6 + 7 1038 c.1026G>A c.(1024-1026)agG>agA p.R342R NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 342 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TGCAAGACAGGAGCCACATGC 0.502000 41 79 0 0 0.864702 0 0 SALL3 27164 broad.mit.edu 37 18 76752243 76752243 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr18:76752243G>A ENST00000575389.2 + 2 252 c.252G>A c.(250-252)gaG>gaA p.E84E SALL3_ENST00000537592.2_Silent_p.E84E|SALL3_ENST00000536229.3_5'UTR Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TCGTGCACGAGGACGCGCCCG 0.726000 6 15 0 0 0.278610 0 0 ESPNP 284729 broad.mit.edu 37 1 17046596 17046596 + RNA SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:17046596G>A ENST00000492551.1 - 0 56 NR_026567.1 TCACCACCTTGGGGTGGCCAA 0.597000 8 165 0 0 0.307466 0 0 THSD7B 80731 broad.mit.edu 37 2 137928321 137928321 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:137928321G>A ENST00000409968.1 + 7 1714 c.1536G>A c.(1534-1536)acG>acA p.T512T THSD7B_ENST00000272643.3_Silent_p.T512T|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000413152.2_Silent_p.T481T|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GATTTAGAACGAGGCAGCGCC 0.458000 20 35 0 0 0.654019 0 0 RNF150 57484 broad.mit.edu 37 4 142053624 142053624 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr4:142053624G>A ENST00000306799.3 - 1 992 c.339C>T c.(337-339)cgC>cgT p.R113R RNF150_ENST00000420921.2_Intron|RNF150_ENST00000515673.1_Silent_p.R113R|RNF150_ENST00000507500.1_Silent_p.R113R NM_020724.1 NP_065775.1 Q9ULK6 RN150_HUMAN ring finger protein 150 113 PA. integral to membrane zinc ion binding breast(1)|large_intestine(10)|lung(7)|ovary(1) 19 all_hematologic(180;0.162) AGTTCTTGCCGCGGGTCGGGG 0.657000 6 14 0 0 0.248553 0 0 ADRB2 154 broad.mit.edu 37 5 148207303 148207303 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr5:148207303C>T ENST00000305988.4 + 1 1148 c.909C>T c.(907-909)atC>atT p.I303I NM_000024.5 NP_000015.1 P07550 ADRB2_HUMAN adrenoceptor beta 2, surface 303 activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) ATAACCTCATCCGTAAGGAAG 0.473000 16 42 0 0 0.500413 0 0 HGF 3082 broad.mit.edu 37 7 81381481 81381481 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr7:81381481G>A ENST00000222390.5 - 5 806 c.580C>T c.(580-582)Cca>Tca p.P194S HGF_ENST00000457544.2_Missense_Mutation_p.P189S|HGF_ENST00000453411.1_Missense_Mutation_p.P189S|HGF_ENST00000444829.2_Missense_Mutation_p.P194S|HGF_ENST00000423064.2_Missense_Mutation_p.P194S NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 194 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CGTACCTCTGGATTGCTTGTG 0.478000 15 29 0 0 0.479597 0 0 VPS54 51542 broad.mit.edu 37 2 64208967 64208967 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:64208967C>T ENST00000272322.4 - 3 345 c.191G>A c.(190-192)tGg>tAg p.W64* VPS54_ENST00000409558.3_Nonsense_Mutation_p.W52* NM_016516.2 NP_057600.2 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) 64 protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 ATATACAGTCCATCTATGTTG 0.363000 16 63 0 0 0.500413 0 0 PCDHA6 56142 broad.mit.edu 37 5 140207820 140207820 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr5:140207820C>T ENST00000529310.1 + 1 258 c.144C>T c.(142-144)atC>atT p.I48I PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.I48I|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCCGGATCGCGCAGGACC 0.657000 23 60 0 0 0.654019 0 0 SCN10A 6336 broad.mit.edu 37 3 38783935 38783935 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr3:38783935C>T ENST00000449082.2 - 13 1952 c.1953G>A c.(1951-1953)tgG>tgA p.W651* NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 651 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGAGCTTCACCCACATGGGGC 0.512000 39 76 0 0 0.827153 0 0 SLCO4A1 28231 broad.mit.edu 37 20 61299158 61299158 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr20:61299158C>T ENST00000217159.1 + 8 1739 c.1534C>T c.(1534-1536)Cca>Tca p.P512S SLCO4A1_ENST00000370507.1_Missense_Mutation_p.P512S|SLCO4A1_ENST00000470412.1_3'UTR NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 512 Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) CAGCTGCCAGCCAGAACACTA 0.652000 26 120 0 0 0.706142 0 0 DDX60 55601 broad.mit.edu 37 4 169197182 169197182 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr4:169197182G>A ENST00000393743.3 - 15 2420 c.2129C>T c.(2128-2130)tCt>tTt p.S710F NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 710 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TGGATGTAAAGAACTTGCCAA 0.358000 20 35 0 0 0.639603 0 0 MKLN1 4289 broad.mit.edu 37 7 131012748 131012748 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr7:131012748C>T ENST00000352689.6 + 1 130 c.90C>T c.(88-90)taC>taT p.Y30Y MKLN1_ENST00000429546.1_Intron|MKLN1_ENST00000421797.2_Intron NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 30 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) CCTCCACCTACCTTCCCGAGT 0.672000 4 21 0 0 0.150653 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616573 77616573 + Missense_Mutation SNP G G A rs144986646 by1000genomes TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr8:77616573G>A ENST00000521891.2 + 2 698 c.250G>A c.(250-252)Gaa>Aaa p.E84K ZFHX4_ENST00000518282.1_Missense_Mutation_p.E84K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E84K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E84K|ZFHX4_ENST00000517683.1_Intron NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 84 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACCCTGCAACGAATGTGCCAC 0.507000 HNSCC(33;0.089) 85 104 0 0 0.870114 0 0 COL4A4 1286 broad.mit.edu 37 2 227958912 227958912 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:227958912C>T ENST00000396625.3 - 20 1505 c.1298G>A c.(1297-1299)gGa>gAa p.G433E COL4A4_ENST00000329662.7_Missense_Mutation_p.G433E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 433 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCCTGGTTTTCCTGGAGCAGA 0.552000 23 47 0 0 0.608945 0 0 C12orf74 338809 broad.mit.edu 37 12 93100879 93100879 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr12:93100879C>T ENST00000544406.2 + 2 738 c.472C>T c.(472-474)Ctg>Ttg p.L158L C12orf74_ENST00000397833.3_Silent_p.L158L Q32Q52 CL074_HUMAN chromosome 12 open reading frame 74 158 kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 10 AGGCCACTTCCTGCCCAGCCC 0.562000 4 28 0 0 0.150653 0 0 INPP5B 3633 broad.mit.edu 37 1 38331529 38331529 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:38331529C>T ENST00000373023.2 - 22 2751 c.2658G>A c.(2656-2658)ctG>ctA p.L886L INPP5B_ENST00000373027.1_Silent_p.L642L|INPP5B_ENST00000373024.3_Silent_p.L806L|INPP5B_ENST00000373026.1_Silent_p.L886L NM_005540.2 NP_005531.2 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 886 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GGAAAAGCAGCAGGGCTTCGG 0.512000 18 26 0 0 0.539581 0 0 TUBA3D 113457 broad.mit.edu 37 2 132235770 132235770 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:132235770G>A ENST00000321253.6 + 2 144 c.37G>A c.(37-39)Ggt>Agt p.G13S NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 13 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) GGGGCAGGCGGGTGTCCAGAT 0.498000 29 60 0 0 0.796494 0 0 NPC1L1 29881 broad.mit.edu 37 7 44578514 44578514 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr7:44578514G>A ENST00000289547.4 - 2 1537 c.1482C>T c.(1480-1482)ttC>ttT p.F494F NPC1L1_ENST00000546276.1_Silent_p.F494F|NPC1L1_ENST00000423141.1_Silent_p.F494F|NPC1L1_ENST00000381160.3_Silent_p.F494F NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 494 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GGTTGTTCTGGAAATACTGCA 0.557000 15 45 0 0 0.457914 0 0 OR1N2 138882 broad.mit.edu 37 9 125315479 125315479 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr9:125315479G>A ENST00000373688.2 + 1 89 c.31G>A c.(31-33)Gaa>Aaa p.E11K NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 CAGATCACACGAACTACAAGG 0.453000 25 32 0 0 0.667858 0 0 OBSCN 84033 broad.mit.edu 37 1 228459864 228459864 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:228459864C>T ENST00000570156.2 + 20 6002 c.5928C>T c.(5926-5928)gcC>gcT p.A1976A OBSCN_ENST00000359599.6_Silent_p.A448A|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Intron|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000422127.1_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 957 Ig-like 19. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGGCGGACGCCGGGGAGTACA 0.642000 33 28 0 0 0.788014 0 0 SORBS1 10580 broad.mit.edu 37 10 97101161 97101161 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr10:97101161G>A ENST00000371247.2 - 28 2740 c.2551C>T c.(2551-2553)Cct>Tct p.P851S SORBS1_ENST00000361941.3_Missense_Mutation_p.P851S|SORBS1_ENST00000354106.3_Missense_Mutation_p.P821S|SORBS1_ENST00000607232.1_Missense_Mutation_p.P1111S|SORBS1_ENST00000371239.1_Missense_Mutation_p.P628S|SORBS1_ENST00000371227.4_Missense_Mutation_p.P805S|SORBS1_ENST00000347291.4_Missense_Mutation_p.P663S|SORBS1_ENST00000371246.2_Missense_Mutation_p.P873S|SORBS1_ENST00000353505.5_Missense_Mutation_p.P702S|SORBS1_ENST00000306402.6_Missense_Mutation_p.P598S|SORBS1_ENST00000393949.1_Missense_Mutation_p.P821S|SORBS1_ENST00000371249.2_Missense_Mutation_p.P633S|SORBS1_ENST00000371241.1_Missense_Mutation_p.P501S|SORBS1_ENST00000371245.3_Missense_Mutation_p.P702S|SORBS1_ENST00000277982.5_Missense_Mutation_p.P873S Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 851 SH3 1. focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) TCagcaggaggaagaagctga 0.408000 16 55 0 0 0.520397 0 0 ZNF536 9745 broad.mit.edu 37 19 31040136 31040136 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr19:31040136G>A ENST00000355537.3 + 4 3757 c.3610G>A c.(3610-3612)Gat>Aat p.D1204N NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CAGCAGCAGCGATGGCGGGGA 0.602000 14 53 0 0 0.457914 0 0 ZNF407 55628 broad.mit.edu 37 18 72345996 72345996 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr18:72345996C>T ENST00000299687.5 + 1 3021 c.3021C>T c.(3019-3021)tcC>tcT p.S1007S ZNF407_ENST00000577538.1_Silent_p.S1007S|ZNF407_ENST00000582337.1_Silent_p.S1007S|ZNF407_ENST00000309902.6_Silent_p.S1007S NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1007 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) ATGTGTACTCCCAGAGAGATG 0.453000 29 79 0 0 0.750413 0 0 LIPC 3990 broad.mit.edu 37 15 58840749 58840749 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr15:58840749G>A ENST00000414170.3 + 7 1316 c.1029G>A c.(1027-1029)acG>acA p.T343T LIPC_ENST00000433326.2_Silent_p.T282T|LIPC_ENST00000299022.5_Silent_p.T343T|LIPC_ENST00000356113.6_Silent_p.T343T P11150 LIPC_HUMAN lipase, hepatic 343 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) TCCTCGTAACGCGAGCCCAGT 0.632000 3 6 0 0 0.115264 0 0 CFH 3075 broad.mit.edu 37 1 196683021 196683021 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:196683021G>A ENST00000367429.4 + 10 1733 c.1493G>A c.(1492-1494)gGa>gAa p.G498E NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 498 Sushi 8. complement activation, alternative pathway extracellular space p.G498E(2) NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 GGGAAAGATGGATGGTCAGCT 0.333000 55 28 0 0 0.870114 0 0 UGT1A3 54659 broad.mit.edu 37 2 234638622 234638622 + Missense_Mutation SNP A A G TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:234638622A>G ENST00000482026.1 + 1 869 c.850A>G c.(850-852)Agg>Ggg p.R284G UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) CTGTGCCAACAGGAAGCCACT 0.438000 6 103 0 0 0.278610 0 0 CCK 885 broad.mit.edu 37 3 42299634 42299634 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr3:42299634C>T ENST00000396169.2 - 5 1209 c.304G>A c.(304-306)Gat>Aat p.D102N CCK_ENST00000334681.5_Missense_Mutation_p.D102N|CCK_ENST00000434608.1_Missense_Mutation_p.D102N NM_000729.4 NP_000720.1 P06307 CCKN_HUMAN cholecystokinin 102 axonogenesis|eating behavior|neuron migration neuropeptide hormone activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 Ovarian(412;0.0728) KIRC - Kidney renal clear cell carcinoma(284;0.219) CGGCCAAAATCCATCCAGCCC 0.587000 27 64 0 0 0.729181 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 4 28 0 0 0.184627 0 0 HMGXB4 10042 broad.mit.edu 37 22 35689093 35689093 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr22:35689093C>T ENST00000216106.5 + 10 1875 c.1747C>T c.(1747-1749)Ccc>Tcc p.P583S HMGXB4_ENST00000444518.2_Missense_Mutation_p.P474S NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 583 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GAATGGCTGTCCCAAACAGGT 0.498000 48 80 0 0 0.870114 0 0 THSD1 55901 broad.mit.edu 37 13 52971458 52971458 + Missense_Mutation SNP C C T rs141269153 TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr13:52971458C>T ENST00000349258.4 - 3 1474 c.930G>A c.(928-930)atG>atA p.M310I THSD1_ENST00000258613.4_Missense_Mutation_p.M310I|THSD1_ENST00000544466.1_Intron NM_199263.2 NP_954872.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 310 extracellular region|integral to membrane|intracellular membrane-bounded organelle p.M310I(1) breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) TATTCTTCCCCATGTCAAACA 0.448000 26 40 0 0 0.667858 0 0 BCKDK 10295 broad.mit.edu 37 16 31120614 31120614 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr16:31120614G>A ENST00000394951.1 + 3 693 c.70G>A c.(70-72)Gca>Aca p.A24T AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000287507.3_Missense_Mutation_p.A24T|BCKDK_ENST00000219794.6_Missense_Mutation_p.A24T|BCKDK_ENST00000394950.3_Missense_Mutation_p.A24T O14874 BCKD_HUMAN branched chain ketoacid dehydrogenase kinase 24 branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation mitochondrial alpha-ketoglutarate dehydrogenase complex [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity breast(1)|stomach(1) 2 CCTGGGACCCGCACTCGCGCT 0.692000 3 21 0 0 0.115264 0 0 HELZ2 85441 broad.mit.edu 37 20 62198413 62198413 + Silent SNP G G A rs147456257 byFrequency TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr20:62198413G>A ENST00000467148.1 - 6 2367 c.2298C>T c.(2296-2298)caC>caT p.H766H HELZ2_ENST00000427522.2_Silent_p.H197H NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator TGCCCCTGGCGTGGATGGGGT 0.662000 35 211 0 0 0.788014 0 0 USH1G 124590 broad.mit.edu 37 17 72916153 72916153 + Missense_Mutation SNP T T C TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr17:72916153T>C ENST00000319642.1 - 2 960 c.778A>G c.(778-780)Acc>Gcc p.T260A NM_173477.2 NP_775748.2 Q495M9 USH1G_HUMAN Usher syndrome 1G (autosomal recessive) 260 equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton HN1/USH1G(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3) 14 all_lung(278;0.172)|Lung NSC(278;0.207) TTGGCGTAGGTGCCCTGGCGC 0.701000 51 51 0 0 0.870114 0 0 OR6K3 391114 broad.mit.edu 37 1 158687447 158687447 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:158687447G>A ENST00000368146.1 - 1 506 c.507C>T c.(505-507)ttC>ttT p.F169F OR6K3_ENST00000368145.1_Silent_p.F153F Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) GCAGGATAAGGAAACCGAAGA 0.512000 92 43 0 0 0.870114 0 0 ZNF18 7566 broad.mit.edu 37 17 11895895 11895895 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr17:11895895G>A ENST00000322748.3 - 4 856 c.252C>T c.(250-252)ctC>ctT p.L84L ZNF18_ENST00000454073.3_Silent_p.L84L|ZNF18_ENST00000580306.1_Silent_p.L84L|ZNF18_ENST00000580613.1_Silent_p.L33L NM_144680.2 NP_653281.2 P17022 ZNF18_HUMAN zinc finger protein 18 84 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 14 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) GCTCCAACATGAGGATCTCTA 0.527000 12 64 0 0 0.387290 0 0 SLC24A4 123041 broad.mit.edu 37 14 92922945 92922945 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr14:92922945C>T ENST00000532405.1 + 12 1474 c.1248C>T c.(1246-1248)tcC>tcT p.S416S SLC24A4_ENST00000531433.1_Silent_p.S397S|SLC24A4_ENST00000298877.1_Silent_p.S399S|SLC24A4_ENST00000351924.5_Silent_p.S380S|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000393265.2_Silent_p.S352S Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 416 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CCCCCTTCTCCGTGCCGGGTG 0.622000 OREG0022876 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 10 0 0 0.307466 0 0 DCDC1 341019 broad.mit.edu 37 11 31113050 31113050 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr11:31113050C>T ENST00000597505.1 - 15 2126 c.2127G>A c.(2125-2127)atG>atA p.M709I DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GGCTCAGGATCATTCCAGTCT 0.418000 3 14 0 0 0.115264 0 0 COL21A1 81578 broad.mit.edu 37 6 56044586 56044586 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr6:56044586C>T ENST00000244728.5 - 3 827 c.430G>A c.(430-432)Gat>Aat p.D144N COL21A1_ENST00000535941.1_Missense_Mutation_p.D144N|COL21A1_ENST00000370819.1_Missense_Mutation_p.D144N NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 144 VWFA. 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) GATTTGCCATCCGTAAGTACC 0.443000 16 15 0 0 0.500413 0 0 PCLO 27445 broad.mit.edu 37 7 82584204 82584204 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr7:82584204G>A ENST00000423517.2 - 5 6402 c.6065C>T c.(6064-6066)tCt>tTt p.S2022F PCLO_ENST00000333891.8_Missense_Mutation_p.S2022F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1953 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AGGCACAACAGAATGTAAGCT 0.373000 31 54 0 0 0.729181 0 0 RTEL1 51750 broad.mit.edu 37 20 62298843 62298843 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr20:62298843C>T ENST00000318100.4 + 8 1463 c.636C>T c.(634-636)tcC>tcT p.S212S RTEL1_ENST00000360203.5_Silent_p.S212S|RTEL1_ENST00000370018.3_Silent_p.S212S|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.S212S|RTEL1_ENST00000508582.2_Silent_p.S236S Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 212 Helicase ATP-binding. 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) ACTACCTGTCCCGGAACCTGA 0.577000 60 456 0 0 0.870114 0 0 TAT 6898 broad.mit.edu 37 16 71604622 71604622 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr16:71604622C>T ENST00000355962.4 - 8 1005 c.872G>A c.(871-873)tGg>tAg p.W291* RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 291 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) AATGAGGATCCAGCCCAACCT 0.488000 6 35 0 0 0.248553 0 0 TP53BP1 7158 broad.mit.edu 37 15 43712773 43712773 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr15:43712773G>A ENST00000263801.3 - 21 4648 c.4396C>T c.(4396-4398)Cct>Tct p.P1466S TP53BP1_ENST00000450115.2_Missense_Mutation_p.P1471S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P1421S|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P1471S NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1466 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GCCTGGAAAGGAATTTCTGGA 0.542000 Other conserved DNA damage response genes 19 68 0 0 0.557998 0 0 USHBP1 83878 broad.mit.edu 37 19 17370779 17370779 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr19:17370779G>A ENST00000252597.3 - 5 868 c.695C>T c.(694-696)tCc>tTc p.S232F USHBP1_ENST00000431146.2_Missense_Mutation_p.S168F NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 232 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 TTGGTTGTGGGAAAGATGTGG 0.582000 24 33 0 0 0.639603 0 0 NUMA1 4926 broad.mit.edu 37 11 71720190 71720190 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr11:71720190C>T ENST00000393695.3 - 19 5212 c.4881G>A c.(4879-4881)caG>caA p.Q1627Q NUMA1_ENST00000351960.6_Silent_p.Q491Q|NUMA1_ENST00000358965.6_Silent_p.Q1613Q NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1627 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 GCTCTTGGTTCTGCTGCTTCT 0.572000 T RARA APL 9 69 0 0 0.361761 0 0 TEK 7010 broad.mit.edu 37 9 27169586 27169586 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr9:27169586G>A ENST00000380036.4 + 4 1029 c.587G>A c.(586-588)gGa>gAa p.G196E TEK_ENST00000519097.1_Missense_Mutation_p.G92E|TEK_ENST00000406359.4_Missense_Mutation_p.G196E NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 196 angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TATATAGGAGGAAACCTCTTC 0.502000 42 81 0 0 0.870114 0 0 DLC1 10395 broad.mit.edu 37 8 12958068 12958068 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr8:12958068G>A ENST00000276297.4 - 9 2187 c.1778C>T c.(1777-1779)tCc>tTc p.S593F DLC1_ENST00000520226.1_Missense_Mutation_p.S82F|DLC1_ENST00000358919.2_Missense_Mutation_p.S156F|DLC1_ENST00000512044.2_Missense_Mutation_p.S190F NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 593 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GCTGCGGACGGAAGACACCTC 0.697000 25 32 0 0 0.706142 0 0 SPERT 220082 broad.mit.edu 37 13 46287777 46287777 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr13:46287777C>T ENST00000378966.3 + 2 925 c.509C>T c.(508-510)tCg>tTg p.S170L SPERT_ENST00000310521.1_Missense_Mutation_p.S206L Q8NA61 SPERT_HUMAN spermatid associated 206 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) CACAAGGCCTCGCTGGGCCGA 0.642000 26 38 0 0 0.667858 0 0 GYLTL1B 120071 broad.mit.edu 37 11 45949732 45949732 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr11:45949732C>T ENST00000531526.1 + 13 1870 c.1759C>T c.(1759-1761)Cac>Tac p.H587Y GYLTL1B_ENST00000401752.1_Missense_Mutation_p.H587Y|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.H587Y|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.H556Y|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.H556Y NM_152312.3 NP_689525.3 Q8N3Y3 LARG2_HUMAN glycosyltransferase-like 1B 587 muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(35;0.226) GCACAGGTACCACGAGTGGCC 0.657000 24 26 0 0 0.667858 0 0 CTNNA2 1496 broad.mit.edu 37 2 80835375 80835375 + Missense_Mutation SNP C C A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:80835375C>A ENST00000466387.1 + 21 3086 c.2362C>A c.(2362-2364)Cag>Aag p.Q788K CTNNA2_ENST00000343114.3_Missense_Mutation_p.Q467K|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q788K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q788K|CTNNA2_ENST00000402739.4_Missense_Mutation_p.Q788K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q822K P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 788 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GTATTGCCATCAGCTTAATAT 0.418000 12 59 5.50884e-06 5.6331e-06 0.411799 1 0 AGK 55750 broad.mit.edu 37 7 141341105 141341105 + Missense_Mutation SNP C C A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr7:141341105C>A ENST00000355413.4 + 12 1044 c.784C>A c.(784-786)Ccc>Acc p.P262T AGK_ENST00000535825.1_Intron|AGK_ENST00000473247.1_Missense_Mutation_p.P234T NM_018238.3 NP_060708.1 Q53H12 AGK_HUMAN acylglycerol kinase 262 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway mitochondrial membrane acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3) 17 Melanoma(164;0.0171) AGAGAGACCTCCCAATGAACC 0.468000 10 35 2.17888e-05 2.21968e-05 0.335167 1 0 SSH1 54434 broad.mit.edu 37 12 109186137 109186137 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr12:109186137G>A ENST00000326495.5 - 14 1911 c.1818C>T c.(1816-1818)acC>acT p.T606T SSH1_ENST00000326470.5_Silent_p.T617T|SSH1_ENST00000551165.1_Silent_p.T606T|SSH1_ENST00000360239.3_Silent_p.T294T NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 606 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GATCGAGCTGGGTTGGAAGCT 0.612000 19 38 0 0 0.557998 0 0 UIMC1 51720 broad.mit.edu 37 5 176396235 176396235 + Missense_Mutation SNP T T A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr5:176396235T>A ENST00000377219.2 - 6 687 c.521A>T c.(520-522)aAc>aTc p.N174I UIMC1_ENST00000506128.1_Missense_Mutation_p.N174I|UIMC1_ENST00000377227.4_Missense_Mutation_p.N174I|UIMC1_ENST00000511320.1_Missense_Mutation_p.N174I NM_016290.4 NP_057374.3 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 174 Necessary for interaction with NR6A1 N- terminus. double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 21 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCAGCCTCGTTTCCCTGACT 0.498000 10 60 0 0 0.335167 0 0 ZFHX3 463 broad.mit.edu 37 16 72830830 72830830 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr16:72830830C>T ENST00000268489.5 - 9 6423 c.5751G>A c.(5749-5751)gaG>gaA p.E1917E ZFHX3_ENST00000397992.5_Silent_p.E1003E NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1917 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ACTCTTTCTTCTCTTTGGCCT 0.577000 27 29 0 0 0.681144 0 0 APOB 338 broad.mit.edu 37 2 21225534 21225534 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:21225534G>A ENST00000233242.1 - 29 12887 c.12760C>T c.(12760-12762)Cct>Tct p.P4254S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4254 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AACTCGAAAGGAAGTGTAATC 0.373000 200 361 0 0 0.870114 0 0 MUM1L1 139221 broad.mit.edu 37 X 105449720 105449720 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chrX:105449720G>A ENST00000337685.2 + 5 1080 c.295G>A c.(295-297)Gag>Aag p.E99K MUM1L1_ENST00000372552.1_Missense_Mutation_p.E99K|MUM1L1_ENST00000357175.2_Missense_Mutation_p.E99K NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 99 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 TATTCTGAATGAGAGAACAAA 0.443000 18 7 0 0 0.592651 0 0 OR5I1 10798 broad.mit.edu 37 11 55703636 55703636 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr11:55703636G>A ENST00000301532.3 - 1 240 c.241C>T c.(241-243)Ccc>Tcc p.P81S NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 AGCATTTTGGGAACAATGTCT 0.388000 11 7 0 0 0.361761 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). 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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 55 73 0 0 0.870114 0 0 MIR518C 574477 broad.mit.edu 37 19 54212013 54212013 + RNA SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr19:54212013C>T ENST00000384822.1 + 0 25 NR_030199.1 TGCTGTGACTCTCTGGAGGGA 0.398000 11 17 0 0 0.387290 0 0 SLC45A3 85414 broad.mit.edu 37 1 205632162 205632162 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:205632162G>A ENST00000367145.3 - 3 1052 c.757C>T c.(757-759)Ctg>Ttg p.L253L NM_033102.2 NP_149093.1 Q96JT2 S45A3_HUMAN solute carrier family 45, member 3 253 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) AGGGCGCCCAGGTTCCGGAAA 0.711000 T """ETV1, ETV5, ELK4, ERG""" prostate 16 63 0 0 0.500413 0 0 SCEL 8796 broad.mit.edu 37 13 78184235 78184235 + Missense_Mutation SNP A A G TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr13:78184235A>G ENST00000535157.1 + 20 1375 c.1205A>G c.(1204-1206)aAc>aGc p.N402S SCEL_ENST00000377246.3_Missense_Mutation_p.N424S|SCEL_ENST00000349847.3_Missense_Mutation_p.N444S|SCEL_ENST00000469982.1_3'UTR NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 444 16 X approximate tandem repeats. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) AACAGAACTAACCAAGGGTAA 0.393000 13 33 0 0 0.500413 0 0 LRRK2 120892 broad.mit.edu 37 12 40758797 40758797 + Silent SNP A A T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr12:40758797A>T ENST00000298910.7 + 49 7393 c.7335A>T c.(7333-7335)atA>atT p.I2445I NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2445 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GTCGACTTATACGTGTAATTT 0.398000 13 31 0 0 0.457914 0 0 ACTC1 70 broad.mit.edu 37 15 35083365 35083365 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr15:35083365G>A ENST00000290378.4 - 6 1595 c.940C>T c.(940-942)Cgt>Tgt p.R314C RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 314 R -> H (in CMD1R). apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TTCTGCATACGATCAGCAATA 0.438000 82 164 0 0 0.870114 0 0 FAR2P1 440905 broad.mit.edu 37 2 130792775 130792775 + RNA SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:130792775G>A ENST00000325390.3 - 0 2553 NR_026758.1 CCTGGAATTGGAATTAAGTCT 0.463000 7 17 0 0 0.248553 0 0 OR4C12 283093 broad.mit.edu 37 11 50003708 50003708 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr11:50003708G>A ENST00000335238.4 - 1 363 c.330C>T c.(328-330)atC>atT p.I110I NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 TCAGCAGGATGATCTCAGTAG 0.458000 48 108 0 0 0.870114 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 4 69 0 0 0.150653 0 0 S100A7L2 645922 broad.mit.edu 37 1 153409535 153409535 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:153409535C>T ENST00000368725.2 - 3 337 c.338G>A c.(337-339)tGa>tAa p.*113* NM_001045479.1 NP_001038944.2 S100 calcium binding protein A7-like 2 NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) AGGGTGGGATCACTGGCTTCC 0.498000 49 371 0 0 0.870114 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618318 77618318 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr8:77618318G>A ENST00000521891.2 + 2 2443 c.1995G>A c.(1993-1995)gaG>gaA p.E665E ZFHX4_ENST00000518282.1_Silent_p.E665E|ZFHX4_ENST00000455469.2_Silent_p.E665E|ZFHX4_ENST00000050961.6_Silent_p.E665E|ZFHX4_ENST00000517683.1_Intron NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 665 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ATATGAAGGAGAAACACCCTG 0.502000 HNSCC(33;0.089) 16 35 0 0 0.500413 0 0 UGT2A2 574537 broad.mit.edu 37 4 70505018 70505018 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr4:70505018C>T ENST00000457664.2 - 1 340 c.341G>A c.(340-342)tGg>tAg p.W114* UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000514019.1_Nonsense_Mutation_p.W315*|UGT2A1_ENST00000512704.1_Intron NM_001105677.2 NP_001099147.2 GTAGAAAGCCCATATTGTGAG 0.368000 28 71 0 0 0.740014 0 0 B3GALT1 8708 broad.mit.edu 37 2 168725727 168725727 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:168725727C>T ENST00000305861.1 + 2 529 c.178C>T c.(178-180)Cca>Tca p.P60S AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.P60S NM_020981.3 NP_066191.1 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 60 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 ACCTATCAACCCACATTCTTT 0.413000 20 74 0 0 0.575678 0 0 XRCC3 7517 broad.mit.edu 37 14 104174866 104174866 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr14:104174866G>A ENST00000553264.1 - 3 982 c.186C>T c.(184-186)atC>atT p.I62I XRCC3_ENST00000554974.1_Intron|XRCC3_ENST00000352127.7_Silent_p.I62I|XRCC3_ENST00000555055.1_Silent_p.I62I|XRCC3_ENST00000554913.1_Silent_p.I62I|XRCC3_ENST00000445556.1_Silent_p.I62I O43542 XRCC3_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 3 62 DNA recombination|DNA repair mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity endometrium(1)|large_intestine(1)|ovary(1)|prostate(1) 4 Melanoma(154;0.155)|all_epithelial(191;0.19) Epithelial(152;0.239) TACCTGTAAGGATGCTGCTTC 0.597000 Direct reversal of damage;Homologous recombination 9 19 0 0 0.335167 0 0 DMD 1756 broad.mit.edu 37 X 31196841 31196841 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chrX:31196841G>A ENST00000357033.4 - 70 10374 c.10168C>T c.(10168-10170)Ccc>Tcc p.P3390S DMD_ENST00000343523.2_Missense_Mutation_p.P930S|DMD_ENST00000378707.3_Missense_Mutation_p.P930S|DMD_ENST00000541735.1_Missense_Mutation_p.P930S|DMD_ENST00000378677.2_Missense_Mutation_p.P3386S|DMD_ENST00000378702.4_Missense_Mutation_p.P322S|DMD_ENST00000378723.3_Missense_Mutation_p.P322S|DMD_ENST00000378680.2_Missense_Mutation_p.P322S|DMD_ENST00000474231.1_Missense_Mutation_p.P930S|DMD_ENST00000359836.1_Missense_Mutation_p.P930S|DMD_ENST00000361471.4_Missense_Mutation_p.P322S NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 3390 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CCCATTCGGGGATGCTTCGCA 0.428000 57 21 0 0 0.870114 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77398242 77398242 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr16:77398242C>T ENST00000282849.5 - 5 1233 c.815G>A c.(814-816)aGg>aAg p.R272K NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 272 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TTCATCAAACCTTAGATAGGT 0.468000 13 32 0 0 0.411799 0 0 CERS4 79603 broad.mit.edu 37 19 8322868 8322868 + Splice_Site SNP C C G TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr19:8322868C>G ENST00000558331.1 + 10 1153 c.695_splice c.e10+1 p.Q232_splice CERS4_ENST00000559450.1_Splice_Site_p.Q283_splice|CERS4_ENST00000559336.1_Intron|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000251363.5_Splice_Site_p.Q283_splice Q9HA82 CERS4_HUMAN ceramide synthase 4 283 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity CTTTCCCACCCAGTGAGTCAG 0.562000 29 57 0 0 0.717897 0 0 KIF2A 3796 broad.mit.edu 37 5 61642984 61642984 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr5:61642984C>T ENST00000381103.2 + 3 517 c.32C>T c.(31-33)tCt>tTt p.S11F KIF2A_ENST00000506857.1_Missense_Mutation_p.S4F|KIF2A_ENST00000407818.3_Missense_Mutation_p.S31F|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000401507.3_Missense_Mutation_p.S31F NM_001243952.1 NP_001230881.1 O00139 KIF2A_HUMAN kinesin heavy chain member 2A 31 Globular (Potential). blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 15 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) ATGGTAACATCTTTAAATGAA 0.323000 4 11 0 0 0.150653 0 0 FBXO5 26271 broad.mit.edu 37 6 153296353 153296353 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr6:153296353G>A ENST00000367241.3 - 2 749 c.369C>T c.(367-369)ttC>ttT p.F123F FBXO5_ENST00000229758.3_Silent_p.F169F NM_001142522.1 NP_001135994.1 Q9UKT4 FBX5_HUMAN F-box protein 5 169 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm|spindle metal ion binding|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 15 Ovarian(120;0.125) OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893) GACTGTCACCGAAATTCTCCT 0.423000 18 38 0 0 0.575678 0 0 NLRP11 204801 broad.mit.edu 37 19 56321050 56321050 + Missense_Mutation SNP A A C TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr19:56321050A>C ENST00000443188.1 - 5 1636 c.926T>G c.(925-927)tTt>tGt p.F309C NLRP11_ENST00000592953.1_Missense_Mutation_p.F210C|NLRP11_ENST00000589824.2_Missense_Mutation_p.F309C|NLRP11_ENST00000360133.3_Missense_Mutation_p.F309C|NLRP11_ENST00000589093.1_Missense_Mutation_p.F309C NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 309 NACHT. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GAAAGAGTTAAAATATATCTC 0.493000 14 31 0 0 0.520397 0 0 MUC5B 727897 broad.mit.edu 37 11 1265406 1265406 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr11:1265406G>A ENST00000447027.1 + 31 7363 c.7305G>A c.(7303-7305)acG>acA p.T2435T RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T2432T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2432 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|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) CTCCGGGGACGACCTGGATCC 0.627000 36 73 0 0 0.870114 0 0 PDZD2 23037 broad.mit.edu 37 5 32074487 32074487 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr5:32074487G>A ENST00000438447.1 + 18 3663 c.3275G>A c.(3274-3276)cGt>cAt p.R1092H PDZD2_ENST00000282493.3_Missense_Mutation_p.R1092H O15018 PDZD2_HUMAN PDZ domain containing 2 1092 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TACACAGTCCGTACAGACACC 0.597000 16 71 0 0 0.500413 0 0 RNF151 146310 broad.mit.edu 37 16 2017795 2017795 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr16:2017795G>A ENST00000569714.1 + 3 227 c.219G>A c.(217-219)cgG>cgA p.R73R RNF151_ENST00000569210.2_Intron|RNF151_ENST00000321392.3_Silent_p.R72R NM_174903.4 NP_777563.2 Q2KHN1 RN151_HUMAN ring finger protein 151 73 cell differentiation|spermatogenesis cytoplasm|nucleus ubiquitin-protein ligase activity|zinc ion binding kidney(1)|lung(1) 2 ATAAACTCCGGAAAACCATTG 0.527000 10 5 0 0 0.435327 0 0 CTAGE1 64693 broad.mit.edu 37 18 19997039 19997039 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr18:19997039C>T ENST00000391403.2 - 1 839 c.736G>A c.(736-738)Gat>Aat p.D246N NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 246 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) GCAACCCCATCTTTCATCTTT 0.368000 31 80 0 0 0.779181 0 0 SCN10A 6336 broad.mit.edu 37 3 38743504 38743504 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr3:38743504C>T ENST00000449082.2 - 26 4482 c.4483G>A c.(4483-4485)Gtg>Atg p.V1495M NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1495 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCAGTCTCCACCATCATGGTG 0.443000 18 41 0 0 0.520397 0 0 PCED1B 91523 broad.mit.edu 37 12 47629874 47629874 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr12:47629874C>T ENST00000546455.1 + 4 1759 c.1028C>T c.(1027-1029)tCc>tTc p.S343F PCED1B_ENST00000432328.1_Missense_Mutation_p.S343F PC-esterase domain containing 1B p.S343F(1) GCCTGTTTTTCCTCAGACCAT 0.542000 23 133 0 0 0.654019 0 0 ARHGEF16 27237 broad.mit.edu 37 1 3389979 3389979 + Nonsense_Mutation SNP G G T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:3389979G>T ENST00000378378.4 + 8 1603 c.1198G>T c.(1198-1200)Gag>Tag p.E400* ARHGEF16_ENST00000378371.2_Nonsense_Mutation_p.E112*|ARHGEF16_ENST00000378373.1_Nonsense_Mutation_p.E112*|ARHGEF16_ENST00000413250.2_Nonsense_Mutation_p.E104* NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor (GEF) 16 400 DH.|Required for RHOG activation and mediates interaction with EPHA2. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) CGCCTTCCGAGAGGCCCTGAG 0.647000 4 65 0.00909568 0.00919712 0.150653 1 0 SLC12A8 84561 broad.mit.edu 37 3 124826446 124826446 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr3:124826446C>T ENST00000423114.2 - 10 1670 c.1671G>A c.(1669-1671)tgG>tgA p.W557* SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000314584.7_Nonsense_Mutation_p.W281*|SLC12A8_ENST00000469902.1_Nonsense_Mutation_p.W528*|SLC12A8_ENST00000393469.4_Nonsense_Mutation_p.W528*|SLC12A8_ENST00000430155.2_Nonsense_Mutation_p.W329* A0AV02 S12A8_HUMAN solute carrier family 12, member 8 528 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 CCTGCCCCTCCCAGGAGGCAG 0.562000 31 50 0 0 0.729181 0 0 UNC13A 23025 broad.mit.edu 37 19 17766723 17766723 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr19:17766723G>A ENST00000428389.2 - 11 1515 c.1516C>T c.(1516-1518)Cct>Tct p.P506S UNC13A_ENST00000252773.7_Missense_Mutation_p.P418S|UNC13A_ENST00000519716.2_Missense_Mutation_p.P418S|UNC13A_ENST00000552293.1_Missense_Mutation_p.P418S|UNC13A_ENST00000551649.1_Missense_Mutation_p.P418S|UNC13A_ENST00000550896.1_Missense_Mutation_p.P418S Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 418 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TCAGCCTCAGGGATCTGCTCA 0.677000 6 14 0 0 0.217242 0 0 ACSS3 79611 broad.mit.edu 37 12 81647355 81647355 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr12:81647355G>A ENST00000548058.1 + 15 2811 c.1901G>A c.(1900-1902)cGa>cAa p.R634Q ACSS3_ENST00000261206.3_Missense_Mutation_p.R633Q|ACSS3_ENST00000548324.1_Missense_Mutation_p.R316Q Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 634 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GCTGCTTTTCGAAATGCAGTG 0.423000 26 43 0 0 0.717897 0 0 OR13F1 138805 broad.mit.edu 37 9 107267485 107267485 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr9:107267485C>T ENST00000334726.2 + 1 1031 c.942C>T c.(940-942)ttC>ttT p.F314F NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 ATACTGCCTTCATTTCCATCC 0.338000 21 30 0 0 0.624587 0 0 LRP1B 53353 broad.mit.edu 37 2 141243044 141243044 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:141243044C>T ENST00000389484.3 - 59 10264 c.9293G>A c.(9292-9294)gGa>gAa p.G3098E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3098 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAGGTTTTTTCCAATCCAATC 0.373000 TSP Lung(27;0.18) 10 30 0 0 0.411799 0 0 TRIM17 51127 broad.mit.edu 37 1 228596850 228596850 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:228596850C>T ENST00000456946.2 - 6 1281 c.906G>A c.(904-906)agG>agA p.R302R TRIM17_ENST00000295033.3_Intron|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000366697.2_Intron NM_001134855.1 NP_001128327.1 Q9Y577 TRI17_HUMAN tripartite motif containing 17 302 B30.2/SPRY. protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) GGTCAGAGGTCCTGGCCCTGG 0.607000 16 170 0 0 0.479597 0 0 SETDB1 9869 broad.mit.edu 37 1 150921738 150921738 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:150921738C>T ENST00000271640.5 + 11 1598 c.1408C>T c.(1408-1410)Caa>Taa p.Q470* SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Nonsense_Mutation_p.Q470* NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) TCTATCCCCCCAAGCAGGTGA 0.488000 47 30 0 0 0.870114 0 0 MARCH11 441061 broad.mit.edu 37 5 16091177 16091177 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr5:16091177G>A ENST00000332432.8 - 3 906 c.707C>T c.(706-708)tCt>tTt p.S236F MARCH11_ENST00000505509.1_5'UTR NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 236 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 CAGTGTTATAGAAATGCTCTG 0.393000 4 4 0 0 0.150653 0 0 WDR90 197335 broad.mit.edu 37 16 715626 715626 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr16:715626C>T ENST00000547944.1 + 1 443 c.56C>T c.(55-57)cCc>cTc p.P19L WDR90_ENST00000549091.1_Intron|WDR90_ENST00000315764.4_Missense_Mutation_p.P19L|WDR90_ENST00000293879.4_Intron|WDR90_ENST00000547543.1_Intron Q96KV7 WDR90_HUMAN WD repeat domain 90 600 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) TGCCTGCGTCCCTTTACCCTG 0.652000 21 29 0 0 0.624587 0 0 MYH4 4622 broad.mit.edu 37 17 10351212 10351212 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr17:10351212C>T ENST00000255381.2 - 34 4998 c.4888G>A c.(4888-4890)Gaa>Aaa p.E1630K CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1630 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 AGCTGGATTTCCATTTCATTA 0.453000 76 86 0 0 0.870114 0 0 GRM3 2913 broad.mit.edu 37 7 86415890 86415890 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr7:86415890G>A ENST00000361669.2 + 3 1881 c.782G>A c.(781-783)cGa>cAa p.R261Q AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.R133Q|GRM3_ENST00000439827.1_Missense_Mutation_p.R261Q|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.R259Q NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 261 synaptic transmission integral to plasma membrane p.R261L(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AGCGTGATCCGAGAACTGTTG 0.652000 23 39 0 0 0.654019 0 0 TANGO6 79613 broad.mit.edu 37 16 68961693 68961693 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr16:68961693C>T ENST00000261778.1 + 13 2362 c.2350C>T c.(2350-2352)Cat>Tat p.H784Y RP11-521L9.1_ENST00000562790.1_lincRNA NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) ACAAACCAGTCATGAAAGACC 0.512000 10 48 0 0 0.361761 0 0 ETV6 2120 broad.mit.edu 37 12 12022522 12022522 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr12:12022522C>T ENST00000396373.4 + 5 902 c.628C>T c.(628-630)Cgc>Tgc p.R210C NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 210 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CAACATGATCCGCCGCCTCTC 0.622000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 70 46 0 0 0.870114 0 0 NDN 4692 broad.mit.edu 37 15 23932118 23932118 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr15:23932118G>A ENST00000331837.4 - 1 332 c.247C>T c.(247-249)Ccg>Tcg p.P83S NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 83 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GCCGCGCTCGGGGCCTGGTGG 0.761000 Prader-Willi syndrome 3 12 0 0 0.115264 0 0 GRHPR 9380 broad.mit.edu 37 9 37426560 37426560 + Missense_Mutation SNP G G C TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr9:37426560G>C ENST00000607784.1 + 4 318 c.313G>C c.(313-315)Gat>Cat p.D105H GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Missense_Mutation_p.D105H Q9UBQ7 GRHPR_HUMAN glyoxylate reductase/hydroxypyruvate reductase 105 cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process peroxisomal matrix glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GBM - Glioblastoma multiforme(29;0.00687) CTACACCCCAGATGTCCTGAC 0.527000 40 94 0 0 0.853193 0 0 NAA60 79903 broad.mit.edu 37 16 3533560 3533560 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr16:3533560C>T ENST00000407558.4 + 6 838 c.535C>T c.(535-537)Ctc>Ttc p.L179F NAA60_ENST00000414063.2_Missense_Mutation_p.L179F|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000577013.1_Intron|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000573580.1_Missense_Mutation_p.L114F|NAA60_ENST00000575076.1_Missense_Mutation_p.L179F|LA16c-306E5.2_ENST00000575785.1_RNA|NAA60_ENST00000360862.5_Missense_Mutation_p.L114F|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000572584.1_Missense_Mutation_p.L179F|NAA60_ENST00000424546.2_Missense_Mutation_p.L186F|NAA60_ENST00000572942.1_Intron NM_001083601.1 NP_001077070.1 Q9H7X0 NAT15_HUMAN N(alpha)-acetyltransferase 60, NatF catalytic subunit 179 N-acetyltransferase. N-acetyltransferase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1) 7 CACCTATGTCCTCTACATCAA 0.498000 8 40 0 0 0.278610 0 0 TRBV6-7 28600 broad.mit.edu 37 7 142144058 142144058 + RNA SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr7:142144058C>T ENST00000390373.2 - 0 26 GAGAAAAGGCCACACAGCACA 0.602000 4 110 0 0 0.307466 0 0 KNSTRN 90417 broad.mit.edu 37 15 40675107 40675107 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr15:40675107C>T ENST00000416151.2 + 1 186 c.71C>T c.(70-72)tCc>tTc p.S24F KNSTRN_ENST00000448395.2_Missense_Mutation_p.S24F|KNSTRN_ENST00000249776.8_Missense_Mutation_p.S24F NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein p.S24F(1) GAGTGCGATTCCCACCCACTT 0.567000 14 48 0 0 0.457914 0 0 OR5P2 120065 broad.mit.edu 37 11 7818394 7818394 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr11:7818394C>T ENST00000329434.2 - 1 126 c.96G>A c.(94-96)atG>atA p.M32I RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M32I(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) ATAGGATGATCATGAAGAGGA 0.433000 14 35 0 0 0.479597 0 0 SEMA3E 9723 broad.mit.edu 37 7 82996917 82996917 + Missense_Mutation SNP G G T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr7:82996917G>T ENST00000307792.3 - 17 2780 c.2313C>A c.(2311-2313)caC>caA p.H771Q SEMA3E_ENST00000427262.1_Missense_Mutation_p.H711Q NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 771 axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) AGTCCAGCGTGTGCCTGGGCA 0.418000 38 127 8.16277e-20 8.47433e-20 0.827153 1 0 ARMC4 55130 broad.mit.edu 37 10 28272791 28272791 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr10:28272791C>T ENST00000305242.5 - 6 892 c.800G>A c.(799-801)gGa>gAa p.G267E ARMC4_ENST00000239715.3_Missense_Mutation_p.G124E NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 267 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 AAATACTCCTCCTGCACTGCA 0.433000 13 25 0 0 0.479597 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32217709 32217709 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr20:32217709C>T ENST00000346541.3 + 9 1781 c.1244C>T c.(1243-1245)tCt>tTt p.S415F CBFA2T2_ENST00000375279.2_Missense_Mutation_p.S415F|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.S386F|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.S406F|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.S425F NM_005093.3 NP_005084.1 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 415 nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 AGTGCAGATTCTCTCAGCAAT 0.488000 17 20 0 0 0.500413 0 0 COX10 1352 broad.mit.edu 37 17 13980198 13980198 + Translation_Start_Site SNP T T A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr17:13980198T>A ENST00000536205.1 + 0 326 COX10_ENST00000537334.1_Intron|COX10_ENST00000429152.2_Silent_p.S108S|COX10_ENST00000261643.3_Silent_p.S108S Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) CCAGCCTATCTTTGTCCAGAA 0.418000 11 26 0 0 0.411799 0 0 LZTR1 8216 broad.mit.edu 37 22 21344765 21344765 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr22:21344765G>A ENST00000215739.8 + 8 1101 c.742G>A c.(742-744)Gga>Aga p.G248R LZTR1_ENST00000389355.3_Missense_Mutation_p.G229R|LZTR1_ENST00000479606.1_3'UTR NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 248 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity p.G248R(1) breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGGGCAAAGCGGAGCCAAAAT 0.562000 30 95 0 0 0.760397 0 0 PNPLA7 375775 broad.mit.edu 37 9 140389554 140389554 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr9:140389554G>A ENST00000406427.1 - 19 2394 c.2058C>T c.(2056-2058)gcC>gcT p.A686A PNPLA7_ENST00000277531.4_Silent_p.A661A|PNPLA7_ENST00000371457.1_Silent_p.A267A NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 661 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) AGTCCCGAACGGCATGCACCG 0.692000 29 72 0 0 0.788014 0 0 TCL1A 8115 broad.mit.edu 37 14 96178600 96178600 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr14:96178600C>T ENST00000402399.1 - 2 383 c.254G>A c.(253-255)cGa>cAa p.R85Q TCL1A_ENST00000555202.1_Missense_Mutation_p.R85Q|RP11-164H13.1_ENST00000547644.2_RNA|RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000556450.1_Missense_Mutation_p.R85Q|TCL1A_ENST00000554012.1_Missense_Mutation_p.R85Q NM_021966.2 NP_068801.1 P56279 TCL1A_HUMAN T-cell leukemia/lymphoma 1A 85 multicellular organismal development endoplasmic reticulum|microsome haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) GTCTGAGGATCGGTATCGTCC 0.577000 T TRA@ T-CLL 26 120 0 0 0.717897 0 0 TBX10 347853 broad.mit.edu 37 11 67401726 67401726 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr11:67401726C>T ENST00000335385.3 - 4 570 c.483G>A c.(481-483)tgG>tgA p.W161* NM_005995.4 NP_005986.2 O75333 TBX10_HUMAN T-box 10 161 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|lung(4)|ovary(1) 7 TCTGGCGCATCCACTGGGCAC 0.662000 32 188 0 0 0.750413 0 0 AHCTF1 25909 broad.mit.edu 37 1 247027368 247027368 + Missense_Mutation SNP T T C TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:247027368T>C ENST00000366508.1 - 27 3639 c.3503A>G c.(3502-3504)gAg>gGg p.E1168G AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.E1133G|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E1142G Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1133 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CTGAATAAACTCCGAACACTG 0.443000 9 78 0 0 0.307466 0 0 GPR115 221393 broad.mit.edu 37 6 47682712 47682712 + Silent SNP T T A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr6:47682712T>A ENST00000283303.2 + 6 1989 c.1731T>A c.(1729-1731)gtT>gtA p.V577V GPR115_ENST00000371220.1_Silent_p.V634V|GPR115_ENST00000327753.3_Silent_p.V577V NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 577 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 TGATTGTGGTTTTGGTTGTTG 0.468000 113 78 0 0 0.870114 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54894364 54894364 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr12:54894364C>T ENST00000293373.6 + 3 340 c.261C>T c.(259-261)ttC>ttT p.F87F NCKAP1L_ENST00000545638.2_Silent_p.F37F NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 87 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TAATTAGATTCCTCACCAACT 0.388000 32 55 0 0 0.796494 0 0 VWA2 340706 broad.mit.edu 37 10 116038498 116038498 + Missense_Mutation SNP C C G TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr10:116038498C>G ENST00000603594.1 + 8 1042 c.721C>G c.(721-723)Ccc>Gcc p.P241A VWA2_ENST00000392982.3_Missense_Mutation_p.P241A NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 241 extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) CGAGGCTCACCCCTGTGAGCA 0.647000 27 67 0 0 0.706142 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155920754 155920754 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:155920754G>A ENST00000368316.1 - 24 2955 c.2485C>T c.(2485-2487)Cga>Tga p.R829* ARHGEF2_ENST00000313695.7_Nonsense_Mutation_p.R829*|ARHGEF2_ENST00000361247.4_Nonsense_Mutation_p.R857*|ARHGEF2_ENST00000313667.4_Nonsense_Mutation_p.R856*|ARHGEF2_ENST00000368315.3_Nonsense_Mutation_p.R858* Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 857 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) AGCTGCCTTCGAGCCTCTTCG 0.726000 29 15 0 0 0.729181 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319155 21319155 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr17:21319155C>T ENST00000583088.1 + 3 1396 c.501C>T c.(499-501)atC>atT p.I167I KCNJ12_ENST00000331718.5_Silent_p.I167I NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) CCCAGTCCATCGTGGGCTGCA 0.617000 Prostate(3;0.18) 4 64 0 0 0.150653 0 0 MAP4K3 8491 broad.mit.edu 37 2 39515377 39515377 + Missense_Mutation SNP A A C TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:39515377A>C ENST00000263881.3 - 20 1683 c.1359T>G c.(1357-1359)gaT>gaG p.D453E MAP4K3_ENST00000536018.1_Missense_Mutation_p.D6E|MAP4K3_ENST00000437545.1_Missense_Mutation_p.D369E|MAP4K3_ENST00000341681.5_Missense_Mutation_p.D432E NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 453 JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) CTTGATTTTCATCCTCAGTAG 0.423000 35 84 0 0 0.847076 0 0 TEKT5 146279 broad.mit.edu 37 16 10721648 10721648 + Missense_Mutation SNP T T G TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr16:10721648T>G ENST00000283025.2 - 7 1321 c.1250A>C c.(1249-1251)aAc>aCc p.N417T TEKT5_ENST00000574923.1_5'UTR NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 417 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 GAACACCTCGTTCACCAGCCT 0.542000 7 39 0 0 0.248553 0 0 MYH4 4622 broad.mit.edu 37 17 10352194 10352194 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr17:10352194C>T ENST00000255381.2 - 31 4462 c.4352G>A c.(4351-4353)aGa>aAa p.R1451K CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1451 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GTCAAAGTTTCTTTGCTTCTT 0.438000 12 39 0 0 0.479597 0 0 PRUNE2 158471 broad.mit.edu 37 9 79320607 79320607 + Missense_Mutation SNP T T C TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr9:79320607T>C ENST00000428286.1 - 8 6706 c.5506A>G c.(5506-5508)Ata>Gta p.I1836V PRUNE2_ENST00000376718.3_Missense_Mutation_p.I2195V Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2195 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCACCGTTTATTTCAGAAGGT 0.458000 31 82 0 0 0.750413 0 0 SLC13A3 64849 broad.mit.edu 37 20 45221138 45221138 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr20:45221138G>A ENST00000279027.4 - 6 843 c.825C>T c.(823-825)ttC>ttT p.F275F SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000495082.1_Silent_p.F228F|SLC13A3_ENST00000290317.5_Silent_p.F228F|SLC13A3_ENST00000396360.1_Silent_p.F228F|SLC13A3_ENST00000413164.2_Intron|SLC13A3_ENST00000372121.1_Intron|SLC13A3_ENST00000472148.1_Silent_p.F228F NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 275 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) ACCAGGAGCCGAAATTCACCA 0.562000 11 55 0 0 0.361761 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004445 75004445 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chrX:75004445C>T ENST00000373359.2 - 1 634 c.442G>A c.(442-444)Gat>Aat p.D148N NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 148 MAGE 1. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCCTGAGGATCAATAACTCTC 0.517000 10 3 0 0 0.335167 0 0 JMJD1C 221037 broad.mit.edu 37 10 64977081 64977081 + Silent SNP G G C TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr10:64977081G>C ENST00000399262.2 - 5 782 c.564C>G c.(562-564)tcC>tcG p.S188S JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000402544.1_5'UTR|JMJD1C_ENST00000542921.1_Silent_p.S6S|JMJD1C_ENST00000399251.1_5'UTR NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 188 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) ATCCATTTAAGGAATAAGGAC 0.368000 9 32 0 0 0.307466 0 0 BATF2 116071 broad.mit.edu 37 11 64761963 64761963 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr11:64761963C>T ENST00000301887.4 - 2 228 c.98G>A c.(97-99)cGa>cAa p.R33Q NM_138456.3 NP_612465.3 Q8N1L9 BATF2_HUMAN basic leucine zipper transcription factor, ATF-like 2 33 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1) 9 CTGCCGGCTTCGCTGGGCGGC 0.632000 7 11 0 0 0.335167 0 0 CXorf67 340602 broad.mit.edu 37 X 51151078 51151078 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chrX:51151078G>A ENST00000342995.2 + 1 1312 c.1210G>A c.(1210-1212)Gtc>Atc p.V404I chromosome X open reading frame 67 breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1) 21 TTGGCATGCAGTCCGTATGCG 0.592000 19 9 0 0 0.575678 0 0 RIN2 54453 broad.mit.edu 37 20 19955650 19955650 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr20:19955650G>A ENST00000255006.6 + 8 1277 c.1128G>A c.(1126-1128)agG>agA p.R376R RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 327 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 GGCTGGCCAGGACTGAAACCC 0.612000 15 55 0 0 0.520397 0 0 DMRTA1 63951 broad.mit.edu 37 9 22447722 22447722 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr9:22447722G>A ENST00000325870.1 + 1 883 c.658G>A c.(658-660)Gaa>Aaa p.E220K NM_022160.2 NP_071443.2 Q5VZB9 DMRTA_HUMAN DMRT-like family A1 220 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563) GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517) TTATCCTGAGGAAAAACAAGG 0.552000 13 9 0 0 0.411799 0 0 SLCO4A1 28231 broad.mit.edu 37 20 61299387 61299387 + Silent SNP C C A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr20:61299387C>A ENST00000217159.1 + 9 1867 c.1662C>A c.(1660-1662)atC>atA p.I554I SLCO4A1_ENST00000370507.1_Silent_p.I554I|SLCO4A1_ENST00000470412.1_3'UTR NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 554 Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) GTAGCTGTATCCCTCAGAATC 0.537000 25 120 1.17739e-12 1.21307e-12 0.693898 1 0 ANXA10 11199 broad.mit.edu 37 4 169049311 169049311 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr4:169049311G>A ENST00000359299.3 + 2 281 c.95G>A c.(94-96)gGa>gAa p.G32E NM_007193.4 NP_009124.2 Q9UJ72 ANX10_HUMAN annexin A10 32 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) GCACTCCAAGGATTTGGTAAG 0.378000 25 32 0 0 0.667858 0 0 C1orf127 148345 broad.mit.edu 37 1 11008241 11008241 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:11008241C>T ENST00000377004.4 - 12 1950 c.1951G>A c.(1951-1953)Gac>Aac p.D651N C1orf127_ENST00000377008.4_Missense_Mutation_p.D484N NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 502 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CCCTCTATGTCCTGGCTTGGT 0.647000 29 46 0 0 0.779181 0 0 TTN 7273 broad.mit.edu 37 2 179451422 179451422 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:179451422G>A ENST00000589042.1 - 308 64430 c.64206C>T c.(64204-64206)atC>atT p.I21402I TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.I12337I|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Silent_p.I18834I|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.I12529I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.I12462I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.I19761I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19761 Fibronectin type-III 55. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTAACTAGTGATGTAGCCAT 0.478000 46 76 0 0 0.847076 0 0 PGS1 9489 broad.mit.edu 37 17 76395526 76395526 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr17:76395526G>A ENST00000262764.6 + 5 635 c.609G>A c.(607-609)ctG>ctA p.L203L PGS1_ENST00000329897.7_Silent_p.L68L|PGS1_ENST00000588281.1_3'UTR NM_024419.3 NP_077733.3 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 203 phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) TCCGTGGGCTGCTTCGGCTCC 0.612000 29 74 0 0 0.729181 0 0 KIRREL2 84063 broad.mit.edu 37 19 36351511 36351511 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr19:36351511C>T ENST00000360202.5 + 7 1068 c.870C>T c.(868-870)tcC>tcT p.S290S NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Silent_p.S290S|KIRREL2_ENST00000586102.2_Silent_p.S270S|KIRREL2_ENST00000347900.6_Silent_p.S240S|KIRREL2_ENST00000592409.1_Silent_p.S290S NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 290 Ig-like C2-type 3. cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGCCCGTGTCCTGCGAGGTCA 0.662000 21 88 0 0 0.639603 0 0 DLL3 10683 broad.mit.edu 37 19 39998572 39998572 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr19:39998572C>T ENST00000205143.4 + 8 1783 c.1776C>T c.(1774-1776)ttC>ttT p.F592F DLL3_ENST00000356433.5_Intron NM_016941.3 NP_058637.1 Q9NYJ7 DLL3_HUMAN delta-like 3 (Drosophila) 592 Notch signaling pathway|skeletal system development integral to membrane Notch binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7) 19 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGCCCCTTTTCCCCCCGCTAC 0.552000 23 24 0 0 0.624587 0 0 ARL16 339231 broad.mit.edu 37 17 79650840 79650840 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr17:79650840C>T ENST00000397498.4 - 1 114 c.16G>A c.(16-18)Ggg>Agg p.G6R NM_001040025.1 NP_001035114.1 Q0P5N6 ARL16_HUMAN ADP-ribosylation factor-like 16 6 GTP binding p.G6R(1) central_nervous_system(1)|endometrium(1)|lung(4)|skin(1) 7 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) AAGGCCCGCCCACCGGCCACT 0.637000 24 15 0 0 0.693898 0 0 TAF1L 138474 broad.mit.edu 37 9 32633798 32633798 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr9:32633798G>A ENST00000242310.4 - 1 1869 c.1780C>T c.(1780-1782)Ccc>Tcc p.P594S RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 594 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TGTTGCTTGGGGAAATAATAC 0.483000 56 141 0 0 0.870114 0 0 WDR59 79726 broad.mit.edu 37 16 74946209 74946209 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr16:74946209G>A ENST00000262144.6 - 14 1406 c.1276C>T c.(1276-1278)Cgt>Tgt p.R426C NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 426 RWD. breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 ATCTTGACACGATGGTTGCTG 0.502000 37 45 0 0 0.812448 0 0 CACNA1D 776 broad.mit.edu 37 3 53820920 53820920 + Missense_Mutation SNP C C T rs145414503 TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr3:53820920C>T ENST00000288139.3 + 41 5042 c.4924C>T c.(4924-4926)Cgg>Tgg p.R1642W CACNA1D_ENST00000540742.1_Missense_Mutation_p.R514W|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1607W|CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1622W NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1622 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity p.R1642W(1) breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ATTCAAGAAACGGAAAGAACA 0.443000 10 35 0 0 0.335167 0 0 KCNG1 3755 broad.mit.edu 37 20 49626128 49626128 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr20:49626128G>A ENST00000371571.4 - 2 1033 c.748C>T c.(748-750)Ccc>Tcc p.P250S RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Missense_Mutation_p.P250S NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 250 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 CTCAGGCTGGGCAAGGTGCTG 0.667000 5 37 0 0 0.217242 0 0 PPP6R3 55291 broad.mit.edu 37 11 68338522 68338522 + Nonsense_Mutation SNP T T A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr11:68338522T>A ENST00000393799.2 + 12 1560 c.1293T>A c.(1291-1293)tgT>tgA p.C431* PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.C431*|PPP6R3_ENST00000393800.2_Nonsense_Mutation_p.C431*|PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.C431*|PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.C380*|PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.C431*|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.C431*|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.C380*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.C431*|PPP6R3_ENST00000534534.1_Nonsense_Mutation_p.C199* Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 431 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TCCAAAAATGTCAATTAATAG 0.284000 4 26 0 0 0.150653 0 0 WDR72 256764 broad.mit.edu 37 15 53957929 53957929 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr15:53957929C>T ENST00000396328.1 - 14 2041 c.1802G>A c.(1801-1803)cGa>cAa p.R601Q WDR72_ENST00000557913.1_Missense_Mutation_p.R598Q|WDR72_ENST00000360509.5_Missense_Mutation_p.R601Q|WDR72_ENST00000559418.1_Missense_Mutation_p.R611Q NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 601 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) AAGAATAATTCGTGCTCTTTC 0.383000 13 23 0 0 0.435327 0 0 OR2G2 81470 broad.mit.edu 37 1 247752283 247752283 + Missense_Mutation SNP C C T rs145391203 TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:247752283C>T ENST00000320065.1 + 1 622 c.622C>T c.(622-624)Ctt>Ttt p.L208F RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L208F(1) endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GGCTAGTATCCTTTTCCTTAT 0.498000 13 117 0 0 0.411799 0 0 SYCE1 93426 broad.mit.edu 37 10 135368917 135368917 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr10:135368917C>T ENST00000368517.3 - 12 886 c.748G>A c.(748-750)Gga>Aga p.G250R SYCE1_ENST00000343131.5_Missense_Mutation_p.G286R|SYCE1_ENST00000432597.2_Missense_Mutation_p.G250R|SPRN_ENST00000541506.1_Intron NM_130784.2 NP_570140.1 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 286 cell division central element breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1) 19 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) ACTTGCATTCCATGCTTTTCC 0.562000 46 76 0 0 0.870114 0 0 IQCF1 132141 broad.mit.edu 37 3 51929003 51929003 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr3:51929003C>T ENST00000310914.5 - 4 583 c.521G>A c.(520-522)aGa>aAa p.R174K NM_152397.2 NP_689610.2 Q8N6M8 IQCF1_HUMAN IQ motif containing F1 174 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GGCTGTGACTCTGTACTGGCC 0.542000 47 91 0 0 0.864702 0 0 TTN 7273 broad.mit.edu 37 2 179433525 179433525 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:179433525C>T ENST00000589042.1 - 326 77558 c.77334G>A c.(77332-77334)ggG>ggA p.G25778G TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.G16713G|TTN_ENST00000342992.6_Silent_p.G23210G|TTN_ENST00000342175.6_Silent_p.G16905G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.G16838G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.G24137G NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24137 Fibronectin type-III 87. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATCACTTCTCCCCTTTTCAT 0.428000 16 41 0 0 0.500413 0 0 SCN5A 6331 broad.mit.edu 37 3 38663950 38663950 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr3:38663950G>A ENST00000413689.1 - 4 616 c.423C>T c.(421-423)atC>atT p.I141I SCN5A_ENST00000449557.2_Silent_p.I141I|SCN5A_ENST00000450102.2_Silent_p.I141I|SCN5A_ENST00000333535.4_Silent_p.I141I|SCN5A_ENST00000423572.2_Silent_p.I141I|SCN5A_ENST00000451551.2_Silent_p.I141I|SCN5A_ENST00000425664.1_Silent_p.I141I|SCN5A_ENST00000414099.2_Silent_p.I141I|SCN5A_ENST00000443581.1_Silent_p.I141I|SCN5A_ENST00000455624.2_Silent_p.I141I NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 141 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AGTTGGTGAGGATGGTGCACA 0.632000 5 11 0 0 0.217242 0 0 MUC16 94025 broad.mit.edu 37 19 9075414 9075414 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr19:9075414G>A ENST00000397910.4 - 3 12235 c.12032C>T c.(12031-12033)tCc>tTc p.S4011F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4013 Ser-rich.|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 AGTCAAGAAGGAATTAGGCTC 0.478000 11 51 0 0 0.361761 0 0 SLC34A1 6569 broad.mit.edu 37 5 176820745 176820745 + Silent SNP A A T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr5:176820745A>T ENST00000324417.5 + 9 1078 c.987A>T c.(985-987)ggA>ggT p.G329G SLC34A1_ENST00000513614.1_3'UTR NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 329 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGACCCTTGGAAATGCCACCA 0.562000 13 27 0 0 0.457914 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228679 57228679 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr8:57228679C>T ENST00000396721.2 - 2 358 c.228G>A c.(226-228)ggG>ggA p.G76G SDR16C5_ENST00000303749.3_Silent_p.G76G|SDR16C5_ENST00000522671.1_Silent_p.G76G Q8N3Y7 RDHE2_HUMAN short chain dehydrogenase/reductase family 16C, member 5 76 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 TTTCCTCATTCCCCTCCTTAT 0.522000 87 31 0 0 0.870114 0 0 LOC101927924 101927924 broad.mit.edu 37 2 130681236 130681236 + RNA SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:130681236C>T ENST00000450840.1 + 0 105 AC079776.2_ENST00000433290.1_RNA CCCAGGTGATCCACGGTCTTC 0.617000 3 8 0 0 0.184627 0 0 NLRP5 126206 broad.mit.edu 37 19 56549390 56549390 + Splice_Site SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr19:56549390G>A ENST00000390649.3 + 10 2615 c.e10-1 NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGTCTCTGCAGGCTGGATTGC 0.557000 13 21 0 0 0.435327 0 0 CIB4 130106 broad.mit.edu 37 2 26818053 26818053 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:26818053G>A ENST00000288861.4 - 4 372 c.319C>T c.(319-321)Cgc>Tgc p.R107C CIB4_ENST00000405346.3_5'UTR NM_001029881.1 NP_001025052.1 A0PJX0 CIB4_HUMAN calcium and integrin binding family member 4 107 EF-hand 2. calcium ion binding p.R107C(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCATAGATGCGAAAGGCATAC 0.527000 28 60 0 0 0.717897 0 0 CDH6 1004 broad.mit.edu 37 5 31294195 31294195 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr5:31294195G>A ENST00000265071.2 + 3 620 c.355G>A c.(355-357)Gaa>Aaa p.E119K CDH6_ENST00000514738.1_Missense_Mutation_p.E64K NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 119 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GCTGGACAGGGAAGAAAAACC 0.453000 17 52 0 0 0.500413 0 0 SZT2 23334 broad.mit.edu 37 1 43893785 43893785 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:43893785C>T ENST00000562955.1 + 26 3744 c.3744C>T c.(3742-3744)gtC>gtT p.V1248V SZT2_ENST00000372442.1_Silent_p.V406V NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1305 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GGTGCTATGTCCGTGGTGAGC 0.642000 24 28 0 0 0.654019 0 0 MRPL9 65005 broad.mit.edu 37 1 151733936 151733936 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:151733936G>A ENST00000368830.3 - 5 663 c.579C>T c.(577-579)ttC>ttT p.F193F MRPL9_ENST00000368829.3_Intron|MRPL9_ENST00000467306.1_5'UTR NM_031420.2 NP_113608.1 Q9BYD2 RM09_HUMAN mitochondrial ribosomal protein L9 193 translation mitochondrial ribosome structural constituent of ribosome endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CATTCTTAAAGAAGTGGCGGG 0.483000 60 27 0 0 0.870114 0 0 AFF3 3899 broad.mit.edu 37 2 100210436 100210436 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:100210436G>A ENST00000317233.4 - 14 1922 c.1687C>T c.(1687-1689)Ccg>Tcg p.P563S AFF3_ENST00000409236.1_Missense_Mutation_p.P563S|AFF3_ENST00000356421.2_Missense_Mutation_p.P588S|AFF3_ENST00000409579.1_Missense_Mutation_p.P588S NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 563 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 GCGGGTGGCGGGGCGGCTGCG 0.736000 25 30 0 0 0.667858 0 0 WDR31 114987 broad.mit.edu 37 9 116083795 116083795 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr9:116083795G>A ENST00000374193.4 - 8 880 c.634C>T c.(634-636)Ctc>Ttc p.L212F WDR31_ENST00000341761.4_Missense_Mutation_p.L211F|WDR31_ENST00000374195.3_Missense_Mutation_p.L87F|WDR31_ENST00000461942.1_5'UTR NM_001012361.2|NM_145241.3 NP_001012361.1|NP_660284.1 Q8NA23 WDR31_HUMAN WD repeat domain 31 212 NS(1)|large_intestine(1)|lung(2)|prostate(2) 6 GCCCACCTGAGGGTTTTATCT 0.478000 17 33 0 0 0.557998 0 0 VAX1 11023 broad.mit.edu 37 10 118891748 118891748 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr10:118891748G>A ENST00000277905.2 - 4 777 c.533C>T c.(532-534)tCc>tTc p.S178F NM_199131.2 NP_954582.1 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 0 nucleus sequence-specific DNA binding p.S178Y(1) endometrium(1)|large_intestine(1)|lung(8)|ovary(2) 12 all cancers(201;0.0108) TCTGCCCCCGGAGTCCCCACG 0.522000 28 64 0 0 0.788014 0 0 SLCO4A1 28231 broad.mit.edu 37 20 61299440 61299440 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr20:61299440C>T ENST00000217159.1 + 9 1920 c.1715C>T c.(1714-1716)tCa>tTa p.S572L SLCO4A1_ENST00000370507.1_Missense_Mutation_p.S572L|SLCO4A1_ENST00000470412.1_3'UTR NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 572 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) AAATGCACTTCAACTTGTCAG 0.473000 OREG0026115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 119 0 0 0.654019 0 0 ZNF407 55628 broad.mit.edu 37 18 72346708 72346708 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr18:72346708C>T ENST00000299687.5 + 1 3733 c.3733C>T c.(3733-3735)Ccc>Tcc p.P1245S ZNF407_ENST00000577538.1_Missense_Mutation_p.P1245S|ZNF407_ENST00000582337.1_Missense_Mutation_p.P1245S|ZNF407_ENST00000309902.6_Missense_Mutation_p.P1245S NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) AGGTGTTGTCCCCCACAGACA 0.542000 13 42 0 0 0.479597 0 0 ZFX 7543 broad.mit.edu 37 X 24229336 24229336 + Missense_Mutation SNP A A G TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chrX:24229336A>G ENST00000379177.1 + 11 2688 c.2261A>G c.(2260-2262)tAt>tGt p.Y754C ZFX_ENST00000304543.5_Missense_Mutation_p.Y754C|ZFX_ENST00000338565.3_Missense_Mutation_p.Y704C|ZFX_ENST00000379188.3_Missense_Mutation_p.Y754C|ZFX_ENST00000540034.1_Missense_Mutation_p.Y793C|ZFX_ENST00000539115.1_Missense_Mutation_p.Y525C NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 754 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 TACTGTGAGTATAGCACTACA 0.443000 42 25 0 0 0.847076 0 0 AMPD1 270 broad.mit.edu 37 1 115226943 115226943 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:115226943G>A ENST00000369538.3 - 4 558 c.511C>T c.(511-513)Cgg>Tgg p.R171W AMPD1_ENST00000520113.2_Missense_Mutation_p.R175W|AMPD1_ENST00000353928.6_Missense_Mutation_p.R142W NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 142 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) CATAGTGCCCGATACAGACCT 0.413000 4 27 0 0 0.217242 0 0 PLK1 5347 broad.mit.edu 37 16 23700914 23700914 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr16:23700914C>T ENST00000300093.4 + 9 1636 c.1525C>T c.(1525-1527)Ccc>Tcc p.P509S NM_005030.3 NP_005021.2 P53350 PLK1_HUMAN polo-like kinase 1 509 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) CGCCCGGCTGCCCTACCTACG 0.592000 5 29 0 0 0.184627 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77401347 77401347 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr16:77401347G>A ENST00000282849.5 - 4 1187 c.769C>T c.(769-771)Cgc>Tgc p.R257C NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 257 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CATTTCTTGCGTCGTCCACAA 0.443000 19 35 0 0 0.575678 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092590 30092590 + RNA SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr18:30092590G>A ENST00000567636.1 + 0 965 NR_003558.1 CTATCCTGAGGACGTGGATCA 0.468000 20 36 0 0 0.624587 0 0 CYP19A1 1588 broad.mit.edu 37 15 51507285 51507285 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr15:51507285C>T ENST00000396402.1 - 8 1156 c.1003G>A c.(1003-1005)Gaa>Aaa p.E335K CYP19A1_ENST00000396404.4_Missense_Mutation_p.E335K|CYP19A1_ENST00000260433.2_Missense_Mutation_p.E335K|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.E335K NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 335 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) GTCTGGATTTCCTTTATTATT 0.338000 6 8 0 0 0.217242 0 0 HELQ 113510 broad.mit.edu 37 4 84375049 84375049 + Missense_Mutation SNP T T C TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr4:84375049T>C ENST00000295488.3 - 2 509 c.347A>G c.(346-348)gAa>gGa p.E116G HELQ_ENST00000440639.2_5'UTR|HELQ_ENST00000510985.1_Missense_Mutation_p.E116G NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 116 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 AAAGGAGTTTTCAGTAAAGCT 0.373000 Other identified genes with known or suspected DNA repair function 65 138 0 0 0.870114 0 0 TRMT10A 93587 broad.mit.edu 37 4 100475031 100475031 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr4:100475031G>A ENST00000273962.3 - 6 868 c.556C>T c.(556-558)Ctt>Ttt p.L186F TRMT10A_ENST00000394876.2_Missense_Mutation_p.L186F|TRMT10A_ENST00000394877.3_Missense_Mutation_p.L186F NM_152292.4 NP_689505.1 tRNA methyltransferase 10 homolog A (S. cerevisiae) TCTGACGTAAGGTAAATCAGG 0.348000 22 44 0 0 0.639603 0 0 VIT 5212 broad.mit.edu 37 2 36970354 36970354 + Translation_Start_Site SNP A A T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:36970354A>T ENST00000497382.1 + 0 417 VIT_ENST00000379241.3_Missense_Mutation_p.D77V|VIT_ENST00000379242.3_Missense_Mutation_p.D77V|VIT_ENST00000401530.1_Missense_Mutation_p.D77V|VIT_ENST00000389975.3_Missense_Mutation_p.D77V|VIT_ENST00000457137.2_Missense_Mutation_p.D77V|VIT_ENST00000404084.1_Missense_Mutation_p.D55V Q6UXI7 VITRN_HUMAN vitrin proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) TATGGCACTGACGTGTATGCA 0.478000 19 45 0 0 0.639603 0 0 CDH6 1004 broad.mit.edu 37 5 31323076 31323076 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr5:31323076G>A ENST00000265071.2 + 12 2299 c.2034G>A c.(2032-2034)agG>agA p.R678R NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 678 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GCACCCTGAGGAATCCTGAAG 0.507000 12 36 0 0 0.387290 0 0 OR1C1 26188 broad.mit.edu 37 1 247921190 247921190 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:247921190G>A ENST00000408896.2 - 1 792 c.519C>T c.(517-519)atC>atT p.I173I NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AATGATGGATGATATTGGAGG 0.473000 43 24 0 0 0.834066 0 0 RASSF9 9182 broad.mit.edu 37 12 86199698 86199698 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr12:86199698C>T ENST00000361228.3 - 2 458 c.90G>A c.(88-90)gtG>gtA p.V30V NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 30 Ras-associating. endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AAACCCAAACCACAATTTCCT 0.428000 11 43 0 0 0.435327 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455191 187455191 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr4:187455191C>T ENST00000307161.5 - 2 906 c.705G>A c.(703-705)agG>agA p.R235R RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 235 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) TGACAAAATTCCTGAAGTCCT 0.502000 38 97 0 0 0.827153 0 0 TMCO4 255104 broad.mit.edu 37 1 20107099 20107099 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:20107099G>A ENST00000294543.6 - 4 394 c.153C>T c.(151-153)tcC>tcT p.S51S TMCO4_ENST00000375127.1_Silent_p.S51S|TMCO4_ENST00000375122.2_Silent_p.S51S NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 51 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) GAAATAACTGGGACAGGGAGA 0.597000 15 29 0 0 0.539581 0 0 ZFP42 132625 broad.mit.edu 37 4 188924222 188924222 + Missense_Mutation SNP A A T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr4:188924222A>T ENST00000326866.4 + 4 669 c.261A>T c.(259-261)gaA>gaT p.E87D ZFP42_ENST00000509524.1_Missense_Mutation_p.E87D NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 87 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) CCATCCTGGAAGAGGACTCAC 0.458000 16 46 0 0 0.539581 0 0 C1orf94 84970 broad.mit.edu 37 1 34666393 34666393 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:34666393G>A ENST00000488417.1 + 3 1150 c.1030G>A c.(1030-1032)Gag>Aag p.E344K C1orf94_ENST00000373374.3_Missense_Mutation_p.E154K NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 154 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) TGGCACCAAGGAGCCAAAAAA 0.562000 4 63 0 0 0.184627 0 0 TENM2 57451 broad.mit.edu 37 5 167674680 167674680 + Missense_Mutation SNP T T A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr5:167674680T>A ENST00000519204.1 + 26 6491 c.6373T>A c.(6373-6375)Ttg>Atg p.L2125M TENM2_ENST00000520394.1_Missense_Mutation_p.L2007M|TENM2_ENST00000403607.2_Missense_Mutation_p.L2070M|TENM2_ENST00000545108.1_Missense_Mutation_p.L2245M|TENM2_ENST00000518659.1_Missense_Mutation_p.L2246M teneurin transmembrane protein 2 CCTCATGCCCTTGCGCTATGA 0.557000 13 25 0 0 0.435327 0 0 NLRC3 197358 broad.mit.edu 37 16 3613701 3613701 + RNA SNP A A C TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr16:3613701A>C ENST00000301749.7 - 0 1642 NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TAAAACACGTATTTCTTCTTG 0.607000 17 11 0 0 0.500413 0 0 OR1J4 26219 broad.mit.edu 37 9 125281684 125281684 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr9:125281684G>A ENST00000340750.1 + 1 265 c.265G>A c.(265-267)Gat>Aat p.D89N NM_001004452.1 NP_001004452.1 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, member 4 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 GCAAACTCAGGATCAATCCAT 0.413000 50 108 0 0 0.870114 0 0 RASGRF2 5924 broad.mit.edu 37 5 80390675 80390675 + Splice_Site SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr5:80390675C>T ENST00000265080.4 + 12 1686 c.1618_splice c.e12-1 p.S540_splice NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 540 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TGTGTTCAAGCTAAAGGTTCT 0.418000 10 40 0 0 0.411799 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110493686 110493686 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr8:110493686G>A ENST00000378402.5 + 56 9456 c.9352G>A c.(9352-9354)Gaa>Aaa p.E3118K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3118 G8 2. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CGGTGGCTGGGAAGATAACCC 0.378000 HNSCC(38;0.096) 7 10 0 0 0.335167 0 0 TLE2 7089 broad.mit.edu 37 19 3011090 3011090 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr19:3011090G>A ENST00000447365.2 - 8 1158 c.68C>T c.(67-69)cCc>cTc p.P23L TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Silent_p.T192T|TLE2_ENST00000590536.1_Silent_p.T315T|TLE2_ENST00000426948.2_Silent_p.T328T|TLE2_ENST00000591529.1_Silent_p.T328T|TLE2_ENST00000262953.6_Silent_p.T314T|TLE2_ENST00000443826.3_Silent_p.T192T Q04725 TLE2_HUMAN transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) 142 Gln-rich. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGCCCGGGGGTGGAAGCGT 0.647000 13 12 0 0 0.435327 0 0 IDO1 3620 broad.mit.edu 37 8 39782806 39782806 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr8:39782806G>A ENST00000518237.1 + 9 1411 c.772G>A c.(772-774)Gag>Aag p.E258K IDO1_ENST00000522495.1_Missense_Mutation_p.E258K|RP11-44K6.3_ENST00000517623.1_RNA NM_002164.5 NP_002155.1 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 258 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) AGACCCAAAGGAGTTTGCAGG 0.502000 8 29 0 0 0.335167 0 0 DNAH5 1767 broad.mit.edu 37 5 13737604 13737604 + Splice_Site SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr5:13737604C>T ENST00000265104.4 - 66 11316 c.11211_splice c.e66-1 p.E3738_splice NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3738 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTCTCCAATTCCTATTAATTT 0.358000 Kartagener syndrome 8 15 0 0 0.335167 0 0 BLMH 642 broad.mit.edu 37 17 28613904 28613904 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr17:28613904G>A ENST00000261714.6 - 5 654 c.480C>T c.(478-480)atC>atT p.I160I BLMH_ENST00000394819.3_Silent_p.I73I NM_000386.3 NP_000377.1 Q13867 BLMH_HUMAN bleomycin hydrolase 160 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1) 13 ATTTCTTAGGGATAACACCAT 0.338000 6 27 0 0 0.217242 0 0 ERMARD 55780 broad.mit.edu 37 6 170176106 170176106 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr6:170176106C>T ENST00000588451.1 + 14 1570 c.1057C>T c.(1057-1059)Cat>Tat p.H353Y C6orf70_ENST00000418781.3_Missense_Mutation_p.H489Y|C6orf70_ENST00000366772.2_Missense_Mutation_p.H489Y|C6orf70_ENST00000366773.3_Missense_Mutation_p.H489Y|C6orf70_ENST00000392095.4_Missense_Mutation_p.H363Y Q5T6L9 CF070_HUMAN 489 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) GCTGTATCACCATATGCCTGA 0.378000 10 32 0 0 0.335167 0 0 RAF1 5894 broad.mit.edu 37 3 12653553 12653553 + Silent SNP C C A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr3:12653553C>A ENST00000251849.4 - 3 655 c.216G>T c.(214-216)gtG>gtT p.V72V RAF1_ENST00000442415.2_Silent_p.V72V|RAF1_ENST00000542177.1_Intron NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 72 RBD. activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) TTCCATTTCGCACATTGACCT 0.498000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 32 71 2.61193e-14 2.70131e-14 0.740014 1 0 SNORD113-4 767564 broad.mit.edu 37 14 101402892 101402892 + RNA SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr14:101402892C>T ENST00000364802.1 + 0 65 NR_003232.1 ATATGCAATTCTGAGGTCCAT 0.378000 21 34 0 0 0.681144 0 0 EHMT1 79813 broad.mit.edu 37 9 140648681 140648681 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr9:140648681C>T ENST00000460843.1 + 8 1334 c.1307C>T c.(1306-1308)cCc>cTc p.P436L EHMT1_ENST00000334856.6_Missense_Mutation_p.P405L|EHMT1_ENST00000462484.1_Missense_Mutation_p.P436L|EHMT1_ENST00000371394.2_3'UTR NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 436 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) ACCGACAGTCCCTGGATCAAG 0.537000 24 60 0 0 0.639603 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176128 140176128 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr5:140176128G>A ENST00000526136.1 + 1 1579 c.1579G>A c.(1579-1581)Gaa>Aaa p.E527K PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E527K|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E527K NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACCACGAGGAAGTGGAGCT 0.687000 22 60 0 0 0.693898 0 0 NADK2 133686 broad.mit.edu 37 5 36225643 36225643 + Splice_Site SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr5:36225643C>T ENST00000397338.1 - 4 293 c.e4+1 NADK2_ENST00000506945.1_Splice_Site|NADK2_ENST00000282512.3_Splice_Site|NADK2_ENST00000381937.4_Splice_Site|NADK2_ENST00000514504.1_Splice_Site NAD kinase 2, mitochondrial TTCTTTCTTACCGTTCTGGAT 0.368000 15 41 0 0 0.520397 0 0 GPC5 2262 broad.mit.edu 37 13 92345605 92345605 + Missense_Mutation SNP A A G TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr13:92345605A>G ENST00000377067.3 + 3 862 c.490A>G c.(490-492)Aac>Gac p.N164D NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 164 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) AGAATTTGTAAACAGATTTTT 0.463000 28 82 0 0 0.706142 0 0 COL4A4 1286 broad.mit.edu 37 2 227914823 227914823 + Missense_Mutation SNP G G C TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:227914823G>C ENST00000396625.3 - 34 3382 c.3175C>G c.(3175-3177)Cct>Gct p.P1059A COL4A4_ENST00000329662.7_Missense_Mutation_p.P1059A NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1059 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GAAAATCCAGGGGGACCTGGA 0.423000 32 58 0 0 0.804634 0 0 CSN3 1448 broad.mit.edu 37 4 71114847 71114847 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr4:71114847C>T ENST00000304954.3 + 4 306 c.220C>T c.(220-222)Cca>Tca p.P74S NM_005212.2 NP_005203.2 P07498 CASK_HUMAN casein kappa 74 extracellular region protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 AATTAATAATCCATATGTGCC 0.433000 22 25 0 0 0.592651 0 0 LEPRE1 64175 broad.mit.edu 37 1 43220884 43220884 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:43220884G>A ENST00000236040.4 - 7 1215 c.1175C>T c.(1174-1176)tCa>tTa p.S392L LEPRE1_ENST00000296388.5_Missense_Mutation_p.S392L|LEPRE1_ENST00000397054.3_Missense_Mutation_p.S392L NM_001243246.1 NP_001230175.1 Q32P28 P3H1_HUMAN leucine proline-enriched proteoglycan (leprecan) 1 392 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TGGAGTCCATGAATCCTAAGT 0.418000 16 20 0 0 0.520397 0 0 FGF23 8074 broad.mit.edu 37 12 4479645 4479645 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr12:4479645G>A ENST00000237837.1 - 3 765 c.620C>T c.(619-621)tCa>tTa p.S207L NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 207 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) GAGCTCCTGTGAACAGGAGGC 0.721000 12 12 0 0 0.457914 0 0 TOP2A 7153 broad.mit.edu 37 17 38556559 38556559 + Missense_Mutation SNP A A G TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr17:38556559A>G ENST00000423485.1 - 23 3060 c.2902T>C c.(2902-2904)Ttt>Ctt p.F968L NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 968 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) TTCACAACAAATTTCACAGTG 0.413000 17 69 0 0 0.557998 0 0 ECT2 1894 broad.mit.edu 37 3 172472443 172472443 + Nonsense_Mutation SNP T T A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr3:172472443T>A ENST00000417960.1 + 3 600 c.123T>A c.(121-123)taT>taA p.Y41* ECT2_ENST00000540509.1_Nonsense_Mutation_p.Y41*|ECT2_ENST00000441497.2_Nonsense_Mutation_p.Y41*|ECT2_ENST00000232458.5_Nonsense_Mutation_p.Y41*|ECT2_ENST00000392692.3_Nonsense_Mutation_p.Y41*|ECT2_ENST00000427830.1_Nonsense_Mutation_p.Y41* NM_001258316.1 NP_001245245.1 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 41 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) CTACTTCATATGTAGAAGGTA 0.313000 7 13 0 0 0.307466 0 0 FCER1A 2205 broad.mit.edu 37 1 159277691 159277691 + Missense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:159277691C>T ENST00000368115.1 + 6 842 c.743C>T c.(742-744)cCa>cTa p.P248L FCER1A_ENST00000368114.1_Missense_Mutation_p.P215L NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 248 integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) CTTCTGAACCCACATCCTAAG 0.383000 42 19 0 0 0.870114 0 0 THSD7B 80731 broad.mit.edu 37 2 138208522 138208522 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:138208522C>T ENST00000409968.1 + 15 3245 c.3067C>T c.(3067-3069)Cga>Tga p.R1023* THSD7B_ENST00000272643.3_Nonsense_Mutation_p.R1023*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.R992*|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B p.R1023*(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AGTGAGAATTCGATCCAAATG 0.408000 13 22 0 0 0.457914 0 0 SCN11A 11280 broad.mit.edu 37 3 38938697 38938697 + Missense_Mutation SNP G G A rs146174311 TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr3:38938697G>A ENST00000302328.3 - 14 2240 c.2042C>T c.(2041-2043)gCc>gTc p.A681V SCN11A_ENST00000444237.2_Missense_Mutation_p.A681V|SCN11A_ENST00000456224.3_Missense_Mutation_p.A681V|SCN11A_ENST00000450244.1_Missense_Mutation_p.A681V NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 681 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.A681V(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CCAGGATTTGGCTAACTTGAA 0.413000 17 20 0 0 0.608945 0 0 CD33 945 broad.mit.edu 37 19 51729081 51729081 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr19:51729081C>T ENST00000436584.2 + 2 115 c.60C>T c.(58-60)atC>atT p.I20I CD33_ENST00000262262.4_Silent_p.I147I|CD33_ENST00000391796.3_Silent_p.I147I|CD33_ENST00000421133.2_Silent_p.I20I P20138 CD33_HUMAN CD33 molecule 147 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) GGCCCAAAATCCTCATCCCTG 0.572000 24 71 0 0 0.681144 0 0 RP11-640M9.2 0 broad.mit.edu 37 1 144598691 144598691 + RNA SNP C C T rs149760427 TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr1:144598691C>T ENST00000419820.1 + 0 619 GTGGACTCTCCGAGGTACTGA 0.577000 4 23 0 0 0.150653 0 0 XRN1 54464 broad.mit.edu 37 3 142031492 142031492 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr3:142031492G>A ENST00000264951.4 - 41 4883 c.4766C>T c.(4765-4767)cCc>cTc p.P1589L XRN1_ENST00000392981.2_Missense_Mutation_p.P1577L NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 1589 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 CCCAGCCATGGGCATGGTCCC 0.443000 40 75 0 0 0.819951 0 0 CAMKV 79012 broad.mit.edu 37 3 49899546 49899546 + Silent SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr3:49899546C>T ENST00000477224.1 - 3 637 c.159G>A c.(157-159)aaG>aaA p.K53K CAMKV_ENST00000463537.1_Silent_p.K53K|CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000296471.7_Silent_p.K53K|CAMKV_ENST00000467248.1_5'UTR|CAMKV_ENST00000488336.1_Silent_p.K53K|CAMKV_ENST00000466940.1_Silent_p.K53K Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 53 Protein kinase. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TCTGGAACTTCTTGCAGGTGT 0.587000 16 24 0 0 0.539581 0 0 ARID1B 57492 broad.mit.edu 37 6 157469765 157469765 + Nonsense_Mutation SNP C C G TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr6:157469765C>G ENST00000346085.5 + 9 2560 c.2559C>G c.(2557-2559)taC>taG p.Y853* ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Y840*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Y782*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Y840* NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 840 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TAGGTAACTACTCCAGACCCC 0.478000 20 38 0 0 0.592651 0 0 RALGDS 5900 broad.mit.edu 37 9 135975748 135975748 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr9:135975748G>A ENST00000393160.3 - 17 2664 c.2311C>T c.(2311-2313)Ccg>Tcg p.P771S RALGDS_ENST00000372062.3_Missense_Mutation_p.P797S|RALGDS_ENST00000372050.3_Missense_Mutation_p.P826S|RALGDS_ENST00000542690.1_Missense_Mutation_p.P897S|RALGDS_ENST00000372047.3_Missense_Mutation_p.P814S|RALGDS_ENST00000393157.3_Missense_Mutation_p.P825S|RALGDS_ENST00000469972.1_5'UTR NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 826 nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) ATTACAGCCGGAGCCTTATCT 0.602000 T CIITA """PMBL, Hodgkin Lymphona, """ 93 119 0 0 0.870114 0 0 BCL11A 53335 broad.mit.edu 37 2 60689253 60689254 + Frame_Shift_Ins INS - - G TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:60689253_60689254insG ENST00000335712.6 - 4 1020_1021 c.793_794insC c.(793-795)gttfs p.V265fs BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.V231fs|BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.V231fs|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.V265fs NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 265 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TGGACTAAACAGGGGGGGAGTG 0.584 T IGH@ B-CLL 7 742 --- --- --- --- NIFK-AS1 254128 broad.mit.edu 37 2 122466739 122466739 + RNA DEL G G - rs6733674 by1000genomes TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr2:122466739delG ENST00000419902.1 + 0 637 NR_037857.1 tttttttgttgtttttttttt 0.458 3 4 --- --- --- --- EDEM1 9695 broad.mit.edu 37 3 5248941 5248941 + Frame_Shift_Del DEL T T - TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr3:5248941delT ENST00000256497.4 + 7 1454 c.1321delT c.(1321-1323)ttfs p.F442fs EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 442 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) TCTGCAGGCCTTTTTCCCTGG 0.463 7 193 --- --- --- --- PPP1R18 170954 broad.mit.edu 37 6 30653494 30653496 + In_Frame_Del DEL TGC TGC - TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr6:30653494_30653496delTGC ENST00000274853.3 - 1 2176_2178 c.300_302delGCA c.(298-303)caa>ca p.QQ102del PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 102 Poly-Gln. cytoplasm|cytoskeleton actin binding p.Q100Q(1) CCGTtgttgttgctgctgctgct 0.650 7 133 --- --- --- --- PRRC2B 84726 broad.mit.edu 37 9 134350033 134350034 + Frame_Shift_Ins INS - - GC TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chr9:134350033_134350034insGC ENST00000357304.4 + 15 2572_2573 c.2517_2518insGC c.(2515-2520)gacaggfs p.DR839fs PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 839 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 ATGTTCAGGATGCAGGTGCTCC 0.500 7 27 --- --- --- --- RNA5-8SP6 100873336 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx aebbb5e9-9014-45fa-87e0-3a67d9f01a7c 4040c106-4f6d-4fde-ae73-f591f01ccb2f g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 3 6 --- --- --- ---