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 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 5 227 0 0 1 0 0 RTDR1 27156 broad.mit.edu 37 22 23401715 23401715 + Silent SNP G G A rs149525500 TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr22:23401715G>A ENST00000216036.4 - 7 1168 c.972C>T c.(970-972)taC>taT p.Y324Y NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 324 binding p.Y324Y(1) breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) GAGGCTTTTCGTAAGTCTCCA 0.607000 97 117 0 0 1 0 0 ANKS3 124401 broad.mit.edu 37 16 4764124 4764124 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr16:4764124C>T ENST00000304283.4 - 7 931 c.637G>A c.(637-639)Gga>Aga p.G213R ANKS3_ENST00000450067.2_Missense_Mutation_p.G7R|ANKS3_ENST00000446014.2_Missense_Mutation_p.G84R|ANKS3_ENST00000585773.1_Missense_Mutation_p.G140R NM_133450.3 NP_597707.1 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain containing 3 213 endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 19 TTCATGTGTCCGTACTGCTTG 0.622000 6 137 0 0 1 0 0 DCUN1D5 84259 broad.mit.edu 37 11 102954040 102954040 + Missense_Mutation SNP A A C TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr11:102954040A>C ENST00000260247.5 - 3 536 c.194T>G c.(193-195)gTa>gGa p.V65G DCUN1D5_ENST00000531543.1_Intron NM_032299.3 NP_115675.1 Q9BTE7 DCNL5_HUMAN DCN1, defective in cullin neddylation 1, domain containing 5 65 DCUN1. NS(1)|central_nervous_system(1)|endometrium(2) 4 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186) TTCTGGCCCTACAACTTCATC 0.323000 3 35 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578272 7578272 + Missense_Mutation SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr17:7578272G>A ENST00000420246.2 - 6 709 c.577C>T c.(577-579)Cat>Tat p.H193Y TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000269305.4_Missense_Mutation_p.H193Y|TP53_ENST00000445888.2_Missense_Mutation_p.H193Y|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 193 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGATAAGATGCTGAGGAGGG 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 33 34 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 985004 985004 + Missense_Mutation SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr1:985004G>A ENST00000379370.2 + 26 4623 c.4573G>A c.(4573-4575)Gtc>Atc p.V1525I NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1525 Laminin G-like 1. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) TTTGCTGGACGTCAACAACCA 0.721000 3 12 0 0 1 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819554 50819554 + Silent SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr10:50819554G>A ENST00000374115.3 + 1 1208 c.768G>A c.(766-768)gcG>gcA p.A256A CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 256 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 TCTTTGACGCGCTGTTGCTGC 0.662000 12 40 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23701496 23701496 + Silent SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr9:23701496G>A ENST00000397312.2 - 5 868 c.594C>T c.(592-594)atC>atT p.I198I ELAVL2_ENST00000380117.1_Silent_p.I198I|ELAVL2_ENST00000380110.4_Silent_p.I227I|ELAVL2_ENST00000223951.6_Silent_p.I198I|ELAVL2_ENST00000544538.1_Silent_p.I198I NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 198 RRM 2. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) ACTTTACAGTGATTGGCTCCG 0.488000 41 141 0 0 1 0 0 IFT140 9742 broad.mit.edu 37 16 1608001 1608001 + Silent SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr16:1608001G>A ENST00000426508.2 - 19 2697 c.2334C>T c.(2332-2334)caC>caT p.H778H IFT140_ENST00000439987.2_5'UTR NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 778 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) AGAAGCTGAAGTGGAGCATGG 0.567000 35 153 0 0 1 0 0 TJAP1 93643 broad.mit.edu 37 6 43469298 43469298 + Missense_Mutation SNP C C T rs149220687 TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr6:43469298C>T ENST00000372444.2 + 7 596 c.163C>T c.(163-165)Cgc>Tgc p.R55C TJAP1_ENST00000438588.2_Missense_Mutation_p.R55C|TJAP1_ENST00000372445.5_Missense_Mutation_p.R55C|TJAP1_ENST00000372449.1_Missense_Mutation_p.R55C|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Missense_Mutation_p.R55C|TJAP1_ENST00000372452.1_Missense_Mutation_p.R55C|TJAP1_ENST00000259751.1_Missense_Mutation_p.R55C NM_001146018.1 NP_001139490.1 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 (peripheral) 55 Golgi apparatus|tight junction protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2) 21 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GCTTCGCCGGCGCCTGGCCTC 0.632000 14 75 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11575545 11575545 + Missense_Mutation SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr1:11575545G>A ENST00000294484.6 + 5 1711 c.1573G>A c.(1573-1575)Gtg>Atg p.V525M PTCHD2_ENST00000389575.3_Missense_Mutation_p.V525M NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 525 SSD. cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GGCCGCCTTCGTGATCGTGGG 0.587000 15 72 0 0 1 0 0 RAPH1 65059 broad.mit.edu 37 2 204306114 204306114 + Missense_Mutation SNP C C T rs76891512 TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr2:204306114C>T ENST00000319170.5 - 14 2098 c.1799G>A c.(1798-1800)cGg>cAg p.R600Q RAPH1_ENST00000374493.3_Missense_Mutation_p.R652Q|RAPH1_ENST00000457812.1_Intron NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 600 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AGTGTAGGGCCGATTCATAGA 0.483000 11 48 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158583611 158583611 + Missense_Mutation SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr1:158583611G>A ENST00000368148.3 - 50 7069 c.6889C>T c.(6889-6891)Cgg>Tgg p.R2297W SPTA1_ENST00000368147.3_Missense_Mutation_p.R2294W NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2297 EF-hand 1. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGGCAGGACCGGAACTCTTTG 0.433000 14 28 0 0 1 0 0 YTHDF3 253943 broad.mit.edu 37 8 64100088 64100088 + Missense_Mutation SNP T T G TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr8:64100088T>G ENST00000539294.1 + 4 1832 c.1516T>G c.(1516-1518)Ttt>Gtt p.F506V YTHDF3_ENST00000542911.2_Missense_Mutation_p.F317V|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000517371.1_Intron NM_001277817.1|NM_001277818.1|NM_152758.4 NP_001264746.1|NP_001264747.1|NP_689971.4 Q7Z739 YTHD3_HUMAN YTH domain family, member 3 507 YTH. Breast(64;0.0716) all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146) BRCA - Breast invasive adenocarcinoma(89;0.161) TAAATGGATCTTTGTCAAAGA 0.413000 5 49 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607540 84607540 + Missense_Mutation SNP A A C TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr9:84607540A>C ENST00000344803.2 + 4 2202 c.2155A>C c.(2155-2157)Att>Ctt p.I719L NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TCAGAGCAAAATTTCAGAGCT 0.478000 4 58 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56443608 56443608 + Missense_Mutation SNP G G C rs142099336 TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr19:56443608G>C ENST00000588751.1 - 1 94 c.70C>G c.(70-72)Ctg>Gtg p.L24V NLRP13_ENST00000342929.3_Missense_Mutation_p.L24V Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 24 DAPIN. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TACTGATCCAGGGCCATCAGG 0.552000 14 99 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112991 248112991 + Missense_Mutation SNP A A C TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr1:248112991A>C ENST00000357191.3 + 1 832 c.832A>C c.(832-834)Acc>Ccc p.T278P OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TGTCTTCTACACCATCCTCAC 0.493000 21 123 0 0 1 0 0 OR51F1 256892 broad.mit.edu 37 11 4790345 4790345 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr11:4790345C>T ENST00000380383.1 - 1 823 c.824G>A c.(823-825)cGg>cAg p.R275Q MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.R268Q A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 268 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) GGGGGCTGACCGACCATAGCG 0.493000 10 82 0 0 1 0 0 ABCB9 23457 broad.mit.edu 37 12 123434439 123434439 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr12:123434439C>T ENST00000542678.1 - 4 3581 c.743G>A c.(742-744)gGc>gAc p.G248D ABCB9_ENST00000540285.1_Missense_Mutation_p.G248D|ABCB9_ENST00000442028.2_Missense_Mutation_p.G248D|ABCB9_ENST00000392439.3_Missense_Mutation_p.G248D|ABCB9_ENST00000280560.8_Missense_Mutation_p.G248D|ABCB9_ENST00000346530.5_Missense_Mutation_p.G248D|ABCB9_ENST00000344275.7_Missense_Mutation_p.G248D|ABCB9_ENST00000442833.2_Missense_Mutation_p.G248D Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 9 248 ABC transmembrane type-1. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) GGTAAAAATGCCGCCCCGAAT 0.522000 5 226 0 0 1 0 0 CYP2J2 1573 broad.mit.edu 37 1 60377361 60377361 + Missense_Mutation SNP A A C TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr1:60377361A>C ENST00000371204.3 - 4 646 c.603T>G c.(601-603)ttT>ttG p.F201L CYP2J2_ENST00000492633.1_5'UTR NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, polypeptide 2 201 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1) 26 all_cancers(7;0.000396) CCTGGTACTCAAAGCGTTCTC 0.468000 24 105 0 0 1 0 0 KRT14 3861 broad.mit.edu 37 17 39742589 39742589 + Missense_Mutation SNP G G T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr17:39742589G>T ENST00000167586.6 - 1 584 c.498C>A c.(496-498)ttC>ttA p.F166L NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 166 Linker 1.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) CAATGGTCTTGAAGTAGGGAC 0.572000 15 168 3.27435e-08 3.5363e-08 1 1 0 OR2B6 26212 broad.mit.edu 37 6 27925800 27925800 + Missense_Mutation SNP A A C TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr6:27925800A>C ENST00000244623.1 + 1 782 c.782A>C c.(781-783)cAa>cCa p.Q261P NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GTGTACCTGCAACCACCTTCG 0.448000 21 116 0 0 1 0 0 STOML1 9399 broad.mit.edu 37 15 74281464 74281464 + Missense_Mutation SNP G G T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr15:74281464G>T ENST00000316900.5 - 3 499 c.375C>A c.(373-375)aaC>aaA p.N125K STOML1_ENST00000359750.4_Missense_Mutation_p.N125K|STOML1_ENST00000561656.1_Missense_Mutation_p.N38K|STOML1_ENST00000564777.1_Intron|STOML1_ENST00000541638.1_Missense_Mutation_p.N83K|STOML1_ENST00000316911.6_Intron NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4 NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2 Q9UBI4 STML1_HUMAN stomatin (EPB72)-like 1 125 integral to membrane sterol binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 AGGGAGGGACGTTGAAGGCTC 0.612000 18 69 1.64113e-05 1.73767e-05 1 1 0 INTS5 80789 broad.mit.edu 37 11 62416624 62416624 + Nonsense_Mutation SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr11:62416624G>A ENST00000330574.2 - 2 980 c.928C>T c.(928-930)Cga>Tga p.R310* NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 310 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 AGCTCCCGTCGGATGCTATCT 0.622000 30 156 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 981638 981638 + Silent SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr1:981638G>A ENST00000379370.2 + 17 2954 c.2904G>A c.(2902-2904)ccG>ccA p.P968P NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 968 Kazal-like 9. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GCCTGGGCCCGTGCCAGGGTG 0.637000 24 113 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9063074 9063074 + Nonsense_Mutation SNP C C A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr5:9063074C>A ENST00000382496.5 - 18 3108 c.2443G>T c.(2443-2445)Gaa>Taa p.E815* NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 815 TSP type-1 5. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 TACTTGGGTTCGGGGTTGTTG 0.562000 19 112 1.96292e-10 2.16322e-10 1 1 0 IGSF9B 22997 broad.mit.edu 37 11 133801985 133801985 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr11:133801985C>T ENST00000321016.8 - 8 1321 c.1091G>A c.(1090-1092)cGt>cAt p.R364H IGSF9B_ENST00000533871.2_Missense_Mutation_p.R364H Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 364 Ig-like 4. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CTGCAGGGGACGGCCGTCCTT 0.607000 4 32 0 0 1 0 0 PRSS48 345062 broad.mit.edu 37 4 152203538 152203538 + Missense_Mutation SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr4:152203538G>A ENST00000455694.2 + 3 456 c.454G>A c.(454-456)Gga>Aga p.G152R SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 152 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 TTGGGTGACCGGATGGGGAAA 0.463000 40 55 0 0 1 0 0 CPM 1368 broad.mit.edu 37 12 69260699 69260699 + Missense_Mutation SNP T T C TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr12:69260699T>C ENST00000551568.1 - 7 977 c.917A>G c.(916-918)gAa>gGa p.E306G CPM_ENST00000338356.3_Missense_Mutation_p.E306G|CPM_ENST00000546373.1_Missense_Mutation_p.E306G NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 306 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) CTTTATATATTCAATTAATGA 0.373000 9 51 0 0 1 0 0 OR8U1 219417 broad.mit.edu 37 11 56143908 56143908 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr11:56143908C>T ENST00000302270.1 + 1 809 c.809C>T c.(808-810)aCa>aTa p.T270I NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) GCCCTGGACACAGACAAGATG 0.463000 5 176 0 0 1 0 0 RLN2 6019 broad.mit.edu 37 9 5304549 5304549 + Missense_Mutation SNP C C T rs2012109 byFrequency TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr9:5304549C>T ENST00000381627.3 - 1 420 c.32G>A c.(31-33)gGa>gAa p.G11E RLN2_ENST00000308420.3_Missense_Mutation_p.G11E NM_134441.2 NP_604390.1 P04090 REL2_HUMAN relaxin 2 11 female pregnancy extracellular region hormone activity endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 11 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987) TAAACAGACTCCTAGCAGGTG 0.527000 7 119 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28228550 28228550 + Missense_Mutation SNP T T G TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr15:28228550T>G ENST00000354638.3 - 14 1599 c.1444A>C c.(1444-1446)Act>Cct p.T482P OCA2_ENST00000382996.2_Missense_Mutation_p.T482P|OCA2_ENST00000353809.5_Missense_Mutation_p.T458P NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 482 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CCGATGGCAGTGGCAGCTCCT 0.478000 Oculocutaneous Albinism 12 74 0 0 1 0 0 PCSK2 5126 broad.mit.edu 37 20 17446004 17446004 + Silent SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr20:17446004G>A ENST00000262545.2 + 11 1551 c.1236G>A c.(1234-1236)ctG>ctA p.L412L PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.L393L|PCSK2_ENST00000536609.1_Silent_p.L377L NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 412 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGCAGCATCTGACTGTGCTCA 0.592000 6 94 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 236957747 236957747 + Missense_Mutation SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr2:236957747G>A ENST00000409538.1 + 15 3068 c.2572G>A c.(2572-2574)Gaa>Aaa p.E858K AGAP1_ENST00000336665.5_Missense_Mutation_p.E593K|AGAP1_ENST00000428334.2_Missense_Mutation_p.E485K|AGAP1_ENST00000304032.7_Missense_Mutation_p.E646K Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 646 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CATGTGCATCGAATGCTCAGG 0.532000 16 112 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47588398 47588398 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr19:47588398C>T ENST00000253048.5 - 8 1059 c.1022G>A c.(1021-1023)cGg>cAg p.R341Q ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 341 Gly-rich. nucleic acid binding|zinc ion binding p.R341L(1) NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GCCTCGGCCCCGACCCATTCC 0.627000 46 205 0 0 1 0 0 SLC25A43 203427 broad.mit.edu 37 X 118586106 118586106 + Splice_Site SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chrX:118586106G>A ENST00000217909.7 + 4 1169 c.825_splice c.e4+1 p.K275_splice SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Splice_Site_p.D218_splice NM_145305.2 NP_660348.2 Q8WUT9 S2543_HUMAN solute carrier family 25, member 43 275 transmembrane transport integral to membrane|mitochondrial inner membrane binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 9 ATTTACTGAAGGTGAGAAGAG 0.547000 8 84 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 119059214 119059214 + Silent SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr4:119059214C>T ENST00000296499.5 + 5 1633 c.1230C>T c.(1228-1230)caC>caT p.H410H NDST3_ENST00000433996.2_Silent_p.H329H NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 410 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 CTTAGGAGCACGGCATTCCAA 0.418000 10 56 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176314638 176314638 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr5:176314638C>T ENST00000292432.5 - 11 1505 c.1414G>A c.(1414-1416)Gtg>Atg p.V472M NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 472 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGGCAGCCACGGCAGTCACC 0.652000 14 60 0 0 1 0 0 TMC4 147798 broad.mit.edu 37 19 54672356 54672356 + Missense_Mutation SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr19:54672356G>A ENST00000376591.4 - 4 642 c.511C>T c.(511-513)Ctc>Ttc p.L171F TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_Missense_Mutation_p.L165F NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 171 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TTAAGAAGGAGCAGGAAGCGC 0.672000 OREG0025670 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 12 0 0 1 0 0 DKKL1 27120 broad.mit.edu 37 19 49867984 49867984 + Silent SNP C C G rs141910577 by1000genomes TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr19:49867984C>G ENST00000221498.2 + 2 561 c.156C>G c.(154-156)ctC>ctG p.L52L DKKL1_ENST00000594268.1_Intron NM_014419.3 NP_055234.1 Q9UK85 DKKL1_HUMAN dickkopf-like 1 52 anatomical structure morphogenesis extracellular space protein binding|signal transducer activity large_intestine(2)|upper_aerodigestive_tract(1) 3 all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456) AGAGCCTACTCCAAGGCTTCA 0.572000 12 117 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7615195 7615195 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr19:7615195C>T ENST00000221249.6 + 18 2140 c.1709C>T c.(1708-1710)gCa>gTa p.A570V PNPLA6_ENST00000545201.2_Missense_Mutation_p.A544V|PNPLA6_ENST00000450331.3_Missense_Mutation_p.A570V|PNPLA6_ENST00000414982.3_Missense_Mutation_p.A618V|PNPLA6_ENST00000600737.1_Missense_Mutation_p.A609V|PNPLA6_ENST00000594864.1_3'UTR NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 609 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 ATCATGCGCGCACAGCCCAGT 0.632000 51 143 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89351758 89351758 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr16:89351758C>T ENST00000301030.4 - 9 1652 c.1192G>A c.(1192-1194)Gca>Aca p.A398T ANKRD11_ENST00000378330.2_Missense_Mutation_p.A398T NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 398 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTCTTTGGTGCAATCGTGTTA 0.453000 17 92 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25021240 25021240 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr13:25021240C>T ENST00000381989.3 - 26 3304 c.3199G>A c.(3199-3201)Gag>Aag p.E1067K NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1067 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TGCAGGGCCTCGGGCACATCT 0.507000 6 94 0 0 1 0 0 PDE1B 5153 broad.mit.edu 37 12 54968998 54968998 + Missense_Mutation SNP G G A rs143206355 TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr12:54968998G>A ENST00000243052.3 + 11 1617 c.1181G>A c.(1180-1182)cGt>cAt p.R394H PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R374H|PDE1B_ENST00000538346.1_Missense_Mutation_p.R353H NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 394 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 GAATTCTTCCGTCAGGTAGCG 0.572000 6 81 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72308160 72308160 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr17:72308160C>T ENST00000579490.1 + 11 1819 c.1684C>T c.(1684-1686)Cgg>Tgg p.R562W DNAI2_ENST00000311014.6_Missense_Mutation_p.R505W|DNAI2_ENST00000582036.1_Missense_Mutation_p.R493W|DNAI2_ENST00000307504.5_Missense_Mutation_p.R362W|DNAI2_ENST00000446837.2_Missense_Mutation_p.R505W Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 505 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GCGTGAGACCCGGCGAGAGAA 0.657000 Kartagener syndrome 8 50 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168315999 168315999 + Silent SNP G G T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr6:168315999G>T ENST00000366806.2 + 18 2572 c.2430G>T c.(2428-2430)ctG>ctT p.L810L MLLT4_ENST00000351017.4_Silent_p.L817L|MLLT4_ENST00000344191.4_Silent_p.L810L|MLLT4_ENST00000400822.3_Silent_p.L809L|MLLT4_ENST00000447894.2_Silent_p.L810L|MLLT4_ENST00000392112.1_Silent_p.L794L|MLLT4_ENST00000392108.3_Silent_p.L810L P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 810 Dilute. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) ATTCGGGGCTGTGCTCCCATT 0.547000 T MLL AL 5 55 0.014758 0.0148959 1 1 0 TEF 7008 broad.mit.edu 37 22 41791810 41791810 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr22:41791810C>T ENST00000266304.4 + 4 874 c.758C>T c.(757-759)gCc>gTc p.A253V TEF_ENST00000406644.3_Missense_Mutation_p.A223V NM_003216.3 NP_003207.1 Q10587 TEF_HUMAN thyrotrophic embryonic factor 253 rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 TCACGGGATGCCCGGCGCCTG 0.582000 4 117 0 0 1 0 0 GALNT2 2590 broad.mit.edu 37 1 230415140 230415140 + Missense_Mutation SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr1:230415140G>A ENST00000366672.4 + 16 1724 c.1652G>A c.(1651-1653)aGc>aAc p.S551N GALNT2_ENST00000543760.1_Missense_Mutation_p.S513N|GALNT2_ENST00000485438.1_3'UTR NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 551 Ricin B-type lectin. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) GGGGGCCTAAGCGTGGAGGTG 0.637000 17 80 0 0 1 0 0 PNMAL1 55228 broad.mit.edu 37 19 46973756 46973756 + Silent SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr19:46973756G>A ENST00000313683.10 - 2 842 c.537C>T c.(535-537)gcC>gcT p.A179A PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Silent_p.A179A NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 179 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) CGAATTCAGCGGCCTCCTGGG 0.612000 29 165 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32768426 32768426 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr2:32768426C>T ENST00000421745.2 + 62 12544 c.12410C>T c.(12409-12411)gCg>gTg p.A4137V NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4137 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GAAACTGTTGCGGCTGAACCT 0.473000 52 220 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32280787 32280787 + Missense_Mutation SNP C C T rs34615674 byFrequency TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr1:32280787C>T ENST00000360482.2 - 2 277 c.148G>A c.(148-150)Gga>Aga p.G50R SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G50R|SPOCD1_ENST00000373648.2_Missense_Mutation_p.G50R NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 50 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) GCCCTGACTCCGGGCCCAGAG 0.637000 9 33 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4169591 4169591 + Nonsense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr7:4169591C>T ENST00000404826.2 + 27 4130 c.3991C>T c.(3991-3993)Cga>Tga p.R1331* SDK1_ENST00000389531.3_Nonsense_Mutation_p.R1331* NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1331 Fibronectin type-III 7. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CCACATCGTGCGAGGGAACCA 0.652000 23 99 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37301542 37301542 + Silent SNP A A G TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr5:37301542A>G ENST00000231498.3 - 30 3761 c.3558T>C c.(3556-3558)acT>acC p.T1186T NUP155_ENST00000381843.2_Silent_p.T1127T|NUP155_ENST00000513532.1_Silent_p.T1122T|NUP155_ENST00000502533.1_5'UTR NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 1186 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTATTACCTTAGTTATGTCCA 0.333000 11 92 0 0 1 0 0 BRAP 8315 broad.mit.edu 37 12 112098426 112098426 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr12:112098426C>T ENST00000419234.4 - 7 1143 c.950G>A c.(949-951)tGt>tAt p.C317Y BRAP_ENST00000327551.6_Missense_Mutation_p.C287Y|BRAP_ENST00000539060.1_Missense_Mutation_p.C138Y NM_006768.3 NP_006759.3 Q7Z569 BRAP_HUMAN BRCA1 associated protein 317 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 20 ACACTCAAAACACTTATTTTC 0.403000 19 130 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237174 140237174 + Missense_Mutation SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr5:140237174G>A ENST00000307360.5 + 1 1541 c.1541G>A c.(1540-1542)gGc>gAc p.G514D PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.G514D|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGAGAGCGGCAAGGTGTAC 0.697000 48 191 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4091385 4091385 + Missense_Mutation SNP T T A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr7:4091385T>A ENST00000404826.2 + 19 2973 c.2834T>A c.(2833-2835)tTc>tAc p.F945Y SDK1_ENST00000389531.3_Missense_Mutation_p.F945Y NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 945 Fibronectin type-III 3. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) ACCGCCTACTTCACTTCCGTT 0.562000 24 157 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940786 144940786 + Silent SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr8:144940786C>T ENST00000525985.1 - 2 6707 c.6636G>A c.(6634-6636)gaG>gaA p.E2212E P58107 EPIPL_HUMAN epiplakin 1 2212 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGCGGTCGTCCTCCATGAGCT 0.622000 38 282 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44974862 44974862 + Silent SNP T T C TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr14:44974862T>C ENST00000340446.4 - 1 1620 c.1329A>G c.(1327-1329)tcA>tcG p.S443S NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 443 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) CCATAGCTGTTGAAAGCTGAA 0.488000 3 30 0 0 1 0 0 TNS4 84951 broad.mit.edu 37 17 38645178 38645178 + Silent SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr17:38645178G>A ENST00000254051.6 - 3 641 c.483C>T c.(481-483)caC>caT p.H161H NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 161 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GGGGGCCATCGTGGCACCTTG 0.592000 46 52 0 0 1 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140742042 140742042 + Silent SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr5:140742042C>T ENST00000522605.1 + 1 2340 c.2340C>T c.(2338-2340)ctC>ctT p.L780L PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCAAGATCTCGTCTGTGACA 0.443000 16 104 0 0 1 0 0 PALLD 23022 broad.mit.edu 37 4 169433253 169433253 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr4:169433253C>T ENST00000261509.6 + 2 809 c.598C>T c.(598-600)Cca>Tca p.P200S PALLD_ENST00000505667.1_Missense_Mutation_p.P200S|PALLD_ENST00000333488.4_Missense_Mutation_p.P77S|PALLD_ENST00000335742.7_5'UTR NM_001166108.1|NM_016081.3 NP_001159580.1|NP_057165.3 Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 200 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GTCCTCGTCACCAGACAGTGG 0.512000 Pancreatic Cancer, Familial Clustering of 6 272 0 0 1 0 0 OR7A5 26659 broad.mit.edu 37 19 14938849 14938849 + Missense_Mutation SNP C C A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr19:14938849C>A ENST00000322301.3 - 2 292 c.205G>T c.(205-207)Gct>Tct p.A69S OR7A5_ENST00000594432.1_Missense_Mutation_p.A69S|OR7A5_ENST00000601611.1_Intron Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 CAAATGTCAGCAAAGGACAGG 0.498000 6 173 0.00307968 0.00313779 1 1 0 RHD 6007 broad.mit.edu 37 1 25627441 25627441 + Missense_Mutation SNP A A G TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr1:25627441A>G ENST00000328664.4 + 4 646 c.491A>G c.(490-492)gAc>gGc p.D164G RHD_ENST00000423810.2_Missense_Mutation_p.D164G|RHD_ENST00000454452.2_Missense_Mutation_p.D164G|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000357542.4_Missense_Mutation_p.D164G|RHD_ENST00000342055.5_Missense_Mutation_p.D164G|RHD_ENST00000568195.1_Missense_Mutation_p.D164G|RHD_ENST00000417538.2_Missense_Mutation_p.D164G NM_016124.3 NP_057208.2 Q02161 RHD_HUMAN Rh blood group, D antigen 164 integral to plasma membrane breast(2)|large_intestine(4)|lung(7)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TTGCAGACAGACTACCACATG 0.532000 23 145 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111923180 111923180 + Missense_Mutation SNP C C A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr3:111923180C>A ENST00000305815.5 - 17 2309 c.2057G>T c.(2056-2058)gGc>gTc p.G686V SLC9C1_ENST00000487372.1_Missense_Mutation_p.G638V NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 686 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ATGTAAGATGCCAATTAATGT 0.279000 6 47 0.0381472 0.0381472 1 1 0 C1orf112 55732 broad.mit.edu 37 1 169773286 169773286 + Missense_Mutation SNP C C A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr1:169773286C>A ENST00000286031.6 + 6 1083 c.383C>A c.(382-384)gCc>gAc p.A128D C1orf112_ENST00000456684.1_Missense_Mutation_p.A186D|C1orf112_ENST00000359326.4_Missense_Mutation_p.A128D|C1orf112_ENST00000413811.2_Missense_Mutation_p.A99D|C1orf112_ENST00000498289.1_3'UTR NM_018186.2 NP_060656.2 Q9NSG2 CA112_HUMAN chromosome 1 open reading frame 112 128 breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1) 34 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTCAAGGAGGCCTATTCTCTT 0.378000 7 72 0.00307968 0.00313779 1 1 0 ZNF497 162968 broad.mit.edu 37 19 58868531 58868531 + Silent SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr19:58868531G>A ENST00000311044.3 - 3 659 c.471C>T c.(469-471)agC>agT p.S157S ZNF497_ENST00000425453.3_Silent_p.S157S|CTD-2619J13.8_ENST00000599109.1_RNA NM_198458.2 NP_940860.2 Q6ZNH5 ZN497_HUMAN zinc finger protein 497 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|lung(3)|skin(2) 7 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278) GCTTCTCGCCGCTGTGGATGC 0.672000 5 61 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101815931 101815931 + Missense_Mutation SNP G G T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr5:101815931G>T ENST00000506729.1 - 2 737 c.566C>A c.(565-567)gCt>gAt p.A189D SLCO6A1_ENST00000379810.1_Missense_Mutation_p.A189D|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.A189D|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.A189D|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.A189D Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 189 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GGATGGAAAAGCACATAAAAG 0.308000 9 44 1.12685e-05 1.20495e-05 1 1 0 TMEM168 64418 broad.mit.edu 37 7 112423832 112423832 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr7:112423832C>T ENST00000312814.5 - 2 1609 c.1049G>A c.(1048-1050)cGc>cAc p.R350H TMEM168_ENST00000454074.1_Missense_Mutation_p.R350H NM_022484.4 NP_071929.3 Q9H0V1 TM168_HUMAN transmembrane protein 168 350 integral to membrane|transport vesicle breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1) 32 GCAAAAATGGCGCATCCCTTT 0.408000 31 159 0 0 1 0 0 TRIM36 55521 broad.mit.edu 37 5 114515698 114515698 + Missense_Mutation SNP T T G TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr5:114515698T>G ENST00000282369.3 - 1 158 c.37A>C c.(37-39)Atc>Ctc p.I13L TRIM36_ENST00000379618.2_Missense_Mutation_p.I13L|TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000379617.2_Missense_Mutation_p.I13L NM_018700.3 NP_061170.2 Q9NQ86 TRI36_HUMAN tripartite motif containing 36 13 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) AATTCCATGATGTAGCCAAAT 0.572000 12 112 0 0 1 0 0 ZNF470 388566 broad.mit.edu 37 19 57089268 57089268 + Missense_Mutation SNP C C T rs143920172 byFrequency TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr19:57089268C>T ENST00000330619.8 + 6 2157 c.1471C>T c.(1471-1473)Cgg>Tgg p.R491W ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R491W NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R491W(1) endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) GAAAGCTTTCCGGCAGAGCAC 0.453000 34 68 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40321521 40321521 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr17:40321521C>T ENST00000264661.3 - 9 1896 c.1564G>A c.(1564-1566)Gtc>Atc p.V522I KCNH4_ENST00000607371.1_Missense_Mutation_p.V522I NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 522 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity p.V522I(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CCGCTGTTGACGGCCCACGTG 0.652000 13 68 0 0 1 0 0 TXNDC16 57544 broad.mit.edu 37 14 52985898 52985898 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr14:52985898C>T ENST00000281741.4 - 7 877 c.506G>A c.(505-507)gGa>gAa p.G169E TXNDC16_ENST00000554399.1_Intron NM_001160047.1|NM_020784.2 NP_001153519.1|NP_065835.2 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 169 cell redox homeostasis extracellular region breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) ACCTGGTATTCCAATGGCTCT 0.323000 7 31 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67333330 67333330 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr16:67333330C>T ENST00000304372.5 - 6 977 c.922G>A c.(922-924)Gag>Aag p.E308K KCTD19_ENST00000562860.1_5'UTR NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 308 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) AGCGTGCTCTCGATGCGAAGC 0.607000 26 123 0 0 1 0 0 THOP1 7064 broad.mit.edu 37 19 2805086 2805086 + Missense_Mutation SNP A A G TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr19:2805086A>G ENST00000307741.6 + 6 865 c.662A>G c.(661-663)tAc>tGc p.Y221C THOP1_ENST00000586677.1_Missense_Mutation_p.Y100C NM_003249.3 NP_003240.1 P52888 THOP1_HUMAN thimet oligopeptidase 1 221 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1) 14 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) ACCCTCAAGTACCCCCATTAC 0.577000 7 39 0 0 1 0 0 OR6C65 403282 broad.mit.edu 37 12 55795015 55795015 + Missense_Mutation SNP G G T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr12:55795015G>T ENST00000379665.2 + 1 802 c.703G>T c.(703-705)Gct>Tct p.A235S NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 AAGGAAAAAGGCTTTTTCAAC 0.393000 26 69 4.26978e-12 4.75398e-12 1 1 0 POM121L9P 29774 broad.mit.edu 37 22 24656959 24656959 + RNA SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr22:24656959G>A ENST00000414583.2 + 0 2032 NR_003714.1 CCTCAGGGAGGGAGTGACCTC 0.627000 4 4 0 0 1 0 0 CLDN10 9071 broad.mit.edu 37 13 96212437 96212437 + Missense_Mutation SNP T T C TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr13:96212437T>C ENST00000376873.3 + 2 496 c.266T>C c.(265-267)tTc>tCc p.F89S CLDN10_ENST00000299339.2_Missense_Mutation_p.F91S|CLDN10_ENST00000376855.1_Missense_Mutation_p.F9S NM_001160100.1|NM_182848.3 NP_001153572.1|NP_878268.1 P78369 CLD10_HUMAN claudin 10 91 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) AGCCTGGGCTTCTTTGGTTCC 0.438000 16 58 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196658607 196658607 + Missense_Mutation SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr1:196658607G>A ENST00000367429.4 + 8 1262 c.1022G>A c.(1021-1023)cGt>cAt p.R341H CFH_ENST00000359637.2_Missense_Mutation_p.R277H|CFH_ENST00000439155.2_Missense_Mutation_p.R341H NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 341 Sushi 6. complement activation, alternative pathway extracellular space p.R341H(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 GAGAATATGCGTAGACCATAC 0.333000 10 60 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23510065 23510065 + Missense_Mutation SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr5:23510065G>A ENST00000296682.3 + 4 412 c.230G>A c.(229-231)cGa>cAa p.R77Q NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 77 KRAB-related. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 ATGTGTCACCGAAGGCAGGCC 0.468000 HNSCC(3;0.000094) 8 98 0 0 1 0 0 SEMA3A 10371 broad.mit.edu 37 7 83758445 83758445 + Silent SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr7:83758445G>A ENST00000265362.3 - 3 641 c.327C>T c.(325-327)gaC>gaT p.D109D SEMA3A_ENST00000436949.1_Silent_p.D109D NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 109 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 TTACCAGGATGTCTTTTCCAG 0.353000 13 71 0 0 1 0 0 NAT8 9027 broad.mit.edu 37 2 73868607 73868607 + Missense_Mutation SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr2:73868607G>A ENST00000272425.3 - 2 298 c.149C>T c.(148-150)cCc>cTc p.P50L NM_003960.3|NM_016347.2 NP_003951.3|NP_057431.2 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 (GCN5-related, putative) 50 gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1) 9 TAGGGCGAGGGGCCCCCCAAG 0.612000 26 49 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62910180 62910180 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr4:62910180C>T ENST00000512091.1 + 24 4270 c.3523C>T c.(3523-3525)Cgt>Tgt p.R1175C LPHN3_ENST00000507625.1_Missense_Mutation_p.R1234C|LPHN3_ENST00000507164.1_Missense_Mutation_p.R1234C|LPHN3_ENST00000509896.1_Missense_Mutation_p.R1243C|LPHN3_ENST00000506746.1_Missense_Mutation_p.R1234C|LPHN3_ENST00000504896.1_Missense_Mutation_p.R1175C|LPHN3_ENST00000511324.1_Missense_Mutation_p.R1234C|LPHN3_ENST00000508693.1_Missense_Mutation_p.R1243C|LPHN3_ENST00000508946.1_Missense_Mutation_p.R1175C|LPHN3_ENST00000506720.1_Missense_Mutation_p.R1243C|LPHN3_ENST00000514996.1_Missense_Mutation_p.R1166C|LPHN3_ENST00000545650.1_Missense_Mutation_p.R1175C|LPHN3_ENST00000506700.1_Missense_Mutation_p.R1166C|LPHN3_ENST00000514157.1_Missense_Mutation_p.R1166C|LPHN3_ENST00000514591.1_Missense_Mutation_p.R1175C Q9HAR2 LPHN3_HUMAN latrophilin 3 1153 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GAGCCGAATCCGTAGAATGTG 0.388000 6 10 0 0 1 0 0 FCGR1B 2210 broad.mit.edu 37 1 120927141 120927141 + Missense_Mutation SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr1:120927141G>A ENST00000369384.4 - 5 881 c.839C>T c.(838-840)aCg>aTg p.T280M RP11-439A17.9_ENST00000457996.1_RNA|RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000369383.4_Missense_Mutation_p.T188M NM_001017986.3 NP_001017986.1 Q92637 FCGRB_HUMAN Fc fragment of IgG, high affinity Ib, receptor (CD64) 280 interferon-gamma-mediated signaling pathway integral to membrane|plasma membrane IgG binding|immunoglobulin receptor activity breast(1)|endometrium(1)|lung(2) 4 all_neural(166;0.181) all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068) Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19) CCGCTGCTACGTGGCCCCCTG 0.542000 10 76 0 0 1 0 0 PEX12 5193 broad.mit.edu 37 17 33904241 33904241 + Missense_Mutation SNP C C A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr17:33904241C>A ENST00000225873.4 - 2 1103 c.496G>T c.(496-498)Gtg>Ttg p.V166L NM_000286.2 NP_000277.1 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 166 protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8) 18 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCCATGTTCACAAATGGGTAG 0.483000 34 31 8.53417e-09 9.31001e-09 1 1 0 CACNA1H 8912 broad.mit.edu 37 16 1257353 1257353 + Missense_Mutation SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr16:1257353G>A ENST00000348261.5 + 14 3234 c.2986G>A c.(2986-2988)Gtg>Atg p.V996M CACNA1H_ENST00000358590.4_Missense_Mutation_p.V996M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V996M NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 996 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CCTCTACTTCGTGGCCCTCAT 0.647000 4 22 0 0 1 0 0 PRKCA 5578 broad.mit.edu 37 17 64684445 64684445 + Nonsense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr17:64684445C>T ENST00000413366.3 + 7 738 c.712C>T c.(712-714)Cga>Tga p.R238* NM_002737.2 NP_002728.1 P17252 KPCA_HUMAN protein kinase C, alpha 238 C2. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) AGACAAAGACCGACGACTGTC 0.448000 7 66 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218683176 218683176 + Silent SNP A A G TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr2:218683176A>G ENST00000171887.4 - 24 4019 c.3567T>C c.(3565-3567)acT>acC p.T1189T TNS1_ENST00000430930.1_Silent_p.T1168T|TNS1_ENST00000419504.1_Silent_p.T1176T NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1189 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GACTAGGGGGAGTGTTGGTGC 0.647000 4 123 0 0 1 0 0 CABYR 26256 broad.mit.edu 37 18 21735867 21735867 + Silent SNP G G C rs144981165 TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr18:21735867G>C ENST00000399481.2 + 2 260 c.108G>C c.(106-108)acG>acC p.T36T CABYR_ENST00000581397.1_Silent_p.T134T|CABYR_ENST00000415309.2_Silent_p.T134T|CABYR_ENST00000399496.3_Silent_p.T134T|CABYR_ENST00000399499.1_Silent_p.T134T|CABYR_ENST00000327201.6_Silent_p.T36T O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 134 RIIa. ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) CTGAGCAAACGGAAGCAGTTG 0.493000 19 82 0 0 1 0 0 CA10 56934 broad.mit.edu 37 17 49710999 49710999 + Missense_Mutation SNP G G A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr17:49710999G>A ENST00000451037.2 - 8 1742 c.802C>T c.(802-804)Cgc>Tgc p.R268C CA10_ENST00000570565.1_Missense_Mutation_p.R193C|CA10_ENST00000285273.4_Missense_Mutation_p.R268C|CA10_ENST00000340813.6_Missense_Mutation_p.R274C|CA10_ENST00000442502.2_Missense_Mutation_p.R268C NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 268 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) CTGAGCAGGCGCAAGGAATGC 0.512000 29 33 0 0 1 0 0 TRIM56 81844 broad.mit.edu 37 7 100732306 100732307 + Frame_Shift_Del DEL TC TC - TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr7:100732306_100732307delTC ENST00000306085.6 + 3 2010_2011 c.1713_1714delTC c.(1711-1716)tatcfs p.YL571fs NM_030961.1 NP_112223.1 Q9BRZ2 TRI56_HUMAN tripartite motif containing 56 571 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) CACGGCTCTATCTCATCAACCC 0.708 22 303 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21974696 21974697 + Frame_Shift_Ins INS - - A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr9:21974696_21974697insA ENST00000304494.5 - 1 400_401 c.130_131insT c.(130-132)cggfs p.R44fs CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.R44fs|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.R44fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.R44fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 44 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(25)|p.0(1)|p.V28_V51del(1)|p.Y44fs*76(1)|p.Y44S(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCTCCGACCGTAACTATTCGGT 0.688 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 43 199 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21974725 21974742 + In_Frame_Del DEL CGCCTCCAGCAGCGCCCG CGCCTCCAGCAGCGCCCG - TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr9:21974725_21974742delCGCCTCCAGCAGCGCCCG ENST00000304494.5 - 1 355_372 c.85_102delCGGGCGCTGCTGGAGGCG c.(85-102)del p.RALLEA29del CDKN2A_ENST00000446177.1_In_Frame_Del_p.RALLEA29del|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_In_Frame_Del_p.RALLEA29del|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_In_Frame_Del_p.RALLEA29del|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 29 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.A30V(3)|p.E33*(2)|p.A34V(2)|p.V28_E33del(2)|p.R29_A34del(2)|p.A30A(2)|p.G35fs*13(1)|p.R29Q(1)|p.0(1)|p.V28_V51del(1)|p.L32R(1)|p.R29fs*9(1)|p.L31P(1)|p.A34A(1)|p.E33fs*8(1)|p.A30P(1)|p.E33D(1)|p.A36fs*8(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCAGCGCCCCCGCCTCCAGCAGCGCCCGCACCTCCTCT 0.734 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 21 161 --- --- --- --- LINC00475 158314 broad.mit.edu 37 9 94904432 94904432 + RNA DEL G G - rs58003635 TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr9:94904432delG ENST00000416438.2 + 0 184 NR_027341.1 GGCCTTCTTTGGGGGGGGGGT 0.612 5 6 --- --- --- --- SLC43A3 29015 broad.mit.edu 37 11 57185305 57185308 + Frame_Shift_Del DEL CAGA CAGA - TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr11:57185305_57185308delCAGA ENST00000395123.2 - 8 888_891 c.584_587delTCTG c.(583-588)gcfs p.VC195fs SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000529554.1_Frame_Shift_Del_p.VC195fs|SLC43A3_ENST00000352187.1_Frame_Shift_Del_p.VC195fs|SLC43A3_ENST00000533524.1_Frame_Shift_Del_p.VC208fs|SLC43A3_ENST00000395124.1_Frame_Shift_Del_p.VC195fs NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 195 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 CCAGGTACTGCAGACAGAGATGAA 0.525 9 88 --- --- --- --- KRT5 3852 broad.mit.edu 37 12 52910505 52910506 + Frame_Shift_Ins INS - - CA TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr12:52910505_52910506insCA ENST00000252242.4 - 7 1744_1745 c.1354_1355insTG c.(1354-1356)gtafs p.V452fs NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 452 Coil 2.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) CTCCTGGTACTCACGCAGCAGC 0.634 32 211 --- --- --- --- INTS6-AS1 100507398 broad.mit.edu 37 13 52035523 52035524 + RNA INS - - A TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr13:52035523_52035524insA ENST00000594959.1 + 0 411 INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000434512.1_RNA AGCAAAAAAAGAAAAAAAAATC 0.361 2 4 --- --- --- --- DDX27 55661 broad.mit.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df5a650-5904-4922-a8f5-1b4a40a56943 88c181a4-5488-4095-be4e-f0553e6c66ee g.chr20:47858504delA ENST00000371764.4 + 17 2074 c.2065delA c.(2065-2067)aafs p.K691fs DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 691 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.K691fs*4(3) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAAGGATGCCAAAAAAAAGGG 0.488 7 205 --- --- --- ---