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 CHD1 1105 broad.mit.edu 37 5 98216807 98216807 + Silent SNP T T G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr5:98216807T>G ENST00000284049.3 - 21 3182 c.3033A>C c.(3031-3033)gtA>gtC p.V1011V NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1011 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) ATTCATCTCCTACAGTTAAAG 0.294000 14 40 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19489045 19489045 + Missense_Mutation SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr1:19489045C>T ENST00000375267.2 - 35 4828 c.4825G>A c.(4825-4827)Gcc>Acc p.A1609T UBR4_ENST00000375254.3_Missense_Mutation_p.A1609T|UBR4_ENST00000375226.2_Missense_Mutation_p.A1609T|UBR4_ENST00000375217.2_Missense_Mutation_p.A1609T Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 1609 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TGGCTCAGGGCATTCGTGACA 0.512000 6 89 0 0 1 0 0 ZBTB34 403341 broad.mit.edu 37 9 129641861 129641861 + Missense_Mutation SNP C C G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr9:129641861C>G ENST00000319119.4 + 2 268 c.183C>G c.(181-183)ttC>ttG p.F61L ZBTB34_ENST00000373452.2_Missense_Mutation_p.F57L NM_001099270.1 NP_001092740.1 Q8NCN2 ZBT34_HUMAN zinc finger and BTB domain containing 34 57 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 CCCCATATTTCCGGGACCATT 0.463000 6 97 0 0 1 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1605854 1605854 + Missense_Mutation SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr11:1605854C>T ENST00000382171.2 - 1 659 c.626G>A c.(625-627)gGt>gAt p.G209D KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 209 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CACGGGCACACCGCAGCCGGA 0.662000 10 72 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46542010 46542010 + Missense_Mutation SNP T T A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr13:46542010T>A ENST00000242848.4 - 15 4298 c.3950A>T c.(3949-3951)gAt>gTt p.D1317V ZC3H13_ENST00000378921.2_Missense_Mutation_p.D273V|ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1317V Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1317 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) ctgcctcgtatctctcctctc 0.502000 17 58 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38976759 38976759 + Missense_Mutation SNP G G A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr19:38976759G>A ENST00000355481.4 + 34 5595 c.5464G>A c.(5464-5466)Ggt>Agt p.G1822S RYR1_ENST00000360985.3_Missense_Mutation_p.G1822S|RYR1_ENST00000359596.3_Missense_Mutation_p.G1822S NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1822 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.G1822C(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGTGCGCGACGGTGGGCAGCA 0.701000 13 66 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76462786 76462786 + Missense_Mutation SNP G G A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr17:76462786G>A ENST00000389840.5 - 56 8973 c.8849C>T c.(8848-8850)gCg>gTg p.A2950V DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.A2959V dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGACACCAGCGCATCTTCCGG 0.627000 4 20 0 0 1 0 0 VPS35 55737 broad.mit.edu 37 16 46694501 46694501 + Missense_Mutation SNP T T G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr16:46694501T>G ENST00000299138.7 - 17 2332 c.2274A>C c.(2272-2274)gaA>gaC p.E758D NM_018206.4 NP_060676.2 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 homolog (S. cerevisiae) 758 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CTTCACTGGATTCAAGATTCG 0.408000 15 69 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49420990 49420990 + Missense_Mutation SNP G G C TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr12:49420990G>C ENST00000301067.7 - 48 14758 c.14759C>G c.(14758-14760)cCc>cGc p.P4920R NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGGTGCCAAGGGGGAAGGGGG 0.627000 7 48 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9370528 9370528 + Missense_Mutation SNP T T G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr20:9370528T>G ENST00000378501.2 + 13 1176 c.1161T>G c.(1159-1161)gaT>gaG p.D387E PLCB4_ENST00000414679.2_Missense_Mutation_p.D387E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.D387E|PLCB4_ENST00000378473.3_Missense_Mutation_p.D387E|PLCB4_ENST00000378493.1_Missense_Mutation_p.D387E|PLCB4_ENST00000278655.4_Missense_Mutation_p.D387E NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 387 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TTTTAAAGGATGTAATTCAAG 0.333000 12 72 0 0 1 0 0 FAM126B 285172 broad.mit.edu 37 2 201846387 201846387 + Missense_Mutation SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr2:201846387C>T ENST00000418596.2 - 12 1386 c.1199G>A c.(1198-1200)cGa>cAa p.R400Q AC005037.3_ENST00000413848.1_RNA NM_173822.3 NP_776183.1 Q8IXS8 F126B_HUMAN family with sequence similarity 126, member B 400 intracellular endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 TACTGAATCTCGAGGGCTCTC 0.483000 16 29 0 0 1 0 0 GALNT15 117248 broad.mit.edu 37 3 16252698 16252698 + Missense_Mutation SNP G G A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr3:16252698G>A ENST00000339732.5 + 5 1650 c.1147G>A c.(1147-1149)Gac>Aac p.D383N GALNT15_ENST00000437509.1_Missense_Mutation_p.D383N NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 TGGAGCGTATGACTCTCTTAT 0.547000 17 59 0 0 1 0 0 OPRM1 4988 broad.mit.edu 37 6 154412384 154412384 + Missense_Mutation SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr6:154412384C>T ENST00000414028.2 + 3 991 c.941C>T c.(940-942)aCg>aTg p.T314M OPRM1_ENST00000419506.2_Missense_Mutation_p.T314M|OPRM1_ENST00000518759.1_Missense_Mutation_p.T233M|OPRM1_ENST00000360422.4_Missense_Mutation_p.T314M|OPRM1_ENST00000522236.1_Missense_Mutation_p.T214M|OPRM1_ENST00000435918.2_Missense_Mutation_p.T314M|OPRM1_ENST00000520708.1_Missense_Mutation_p.T214M|OPRM1_ENST00000524163.1_Missense_Mutation_p.T314M|OPRM1_ENST00000229768.5_Missense_Mutation_p.T314M|OPRM1_ENST00000337049.4_Missense_Mutation_p.T314M|OPRM1_ENST00000452687.2_Missense_Mutation_p.T314M|OPRM1_ENST00000428397.2_Missense_Mutation_p.T314M|OPRM1_ENST00000522555.1_Missense_Mutation_p.T214M|OPRM1_ENST00000434900.2_Missense_Mutation_p.T407M|OPRM1_ENST00000330432.7_Missense_Mutation_p.T314M NM_001145284.2 NP_001138756.1 P35372 OPRM_HUMAN opioid receptor, mu 1 314 behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) CCAGAAACTACGTTCCAGACT 0.463000 19 75 0 0 1 0 0 GPC4 2239 broad.mit.edu 37 X 132437323 132437323 + Missense_Mutation SNP T T A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chrX:132437323T>A ENST00000370828.3 - 8 1863 c.1339A>T c.(1339-1341)Aac>Tac p.N447Y GPC4_ENST00000535467.1_Missense_Mutation_p.N377Y NM_001448.2 NP_001439.2 O75487 GPC4_HUMAN glypican 4 447 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) ACCTCTGGGTTGTTGCCCTGG 0.443000 3 49 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33657844 33657844 + Missense_Mutation SNP G G A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr6:33657844G>A ENST00000374316.5 + 52 7961 c.6901G>A c.(6901-6903)Gtg>Atg p.V2301M ITPR3_ENST00000605930.1_Missense_Mutation_p.V2301M Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 2301 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GGTGAGCTTCGTGGGCAACCG 0.572000 3 62 0 0 1 0 0 SDHB 6390 broad.mit.edu 37 1 17355219 17355219 + Missense_Mutation SNP G G A rs121917755 TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr1:17355219G>A ENST00000375499.3 - 4 449 c.299C>T c.(298-300)tCt>tTt p.S100F NM_003000.2 NP_002991.2 P21912 DHSB_HUMAN succinate dehydrogenase complex, subunit B, iron sulfur (Ip) 100 2Fe-2S ferredoxin-type. S -> F (in pheochromocytoma; absence of expression in tumor cells indicating complete loss of SDHB function). respiratory electron transport chain|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II 2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 10 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) Succinic acid(DB00139) CATTGCACAAGAGCCACAGAT 0.468000 """Mis, N, F""" """paraganglioma, pheochromocytoma""" Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome 8 100 0 0 1 0 0 TCF7L2 6934 broad.mit.edu 37 10 114925329 114925329 + Missense_Mutation SNP C C T rs61724286 TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr10:114925329C>T ENST00000355717.4 + 13 1913 c.1406C>T c.(1405-1407)gCg>gTg p.A469V TCF7L2_ENST00000538897.1_Missense_Mutation_p.A462V|TCF7L2_ENST00000355995.4_Silent_p.C486C|TCF7L2_ENST00000369397.4_Silent_p.C463C|TCF7L2_ENST00000542695.1_Silent_p.C202C|TCF7L2_ENST00000545257.1_Silent_p.C486C|TCF7L2_ENST00000352065.5_3'UTR|TCF7L2_ENST00000543371.1_Silent_p.C469C|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000369389.1_Missense_Mutation_p.A156V|TCF7L2_ENST00000536810.1_Silent_p.C469C NM_001146283.1|NM_001146286.1|NM_001198530.1 NP_001139755.1|NP_001139758.1|NP_001185459.1 Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 0 Promoter-specific activation domain. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) AAAAAAAGTGCGTTCGCTACA 0.527000 T VTI1A colorectal 5 112 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151165279 151165279 + Silent SNP A A G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr3:151165279A>G ENST00000282466.3 - 4 2489 c.2490T>C c.(2488-2490)gaT>gaC p.D830D NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 830 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCATAGGACTATCAGATATTG 0.433000 6 119 0 0 1 0 0 RNF144A 9781 broad.mit.edu 37 2 7179870 7179870 + Silent SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr2:7179870C>T ENST00000320892.6 + 9 1300 c.858C>T c.(856-858)gaC>gaT p.D286D NM_014746.3 NP_055561.2 P50876 R144A_HUMAN ring finger protein 144A 286 Golgi apparatus|integral to membrane ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1) 25 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) GTAAAGGTGACGACGACCCGT 0.582000 6 53 0 0 1 0 0 C11orf73 51501 broad.mit.edu 37 11 86055702 86055702 + Nonsense_Mutation SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr11:86055702C>T ENST00000533986.1 + 4 716 c.478C>T c.(478-480)Cag>Tag p.Q160* C11orf73_ENST00000530208.1_3'UTR|C11orf73_ENST00000278483.3_Nonsense_Mutation_p.Q160* Q53FT3 CK073_HUMAN chromosome 11 open reading frame 73 160 cytoplasm kidney(1)|large_intestine(1)|urinary_tract(1) 3 Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556) TGCTGTCTCTCAGGCCCAGAT 0.358000 5 70 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 75022226 75022226 + Missense_Mutation SNP T T C TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr14:75022226T>C ENST00000261978.4 - 4 1387 c.1001A>G c.(1000-1002)gAg>gGg p.E334G CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.E334G NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 334 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TGAGGGGTGCTCCAGAGGTAC 0.632000 10 62 0 0 1 0 0 SLC22A15 55356 broad.mit.edu 37 1 116569559 116569559 + Missense_Mutation SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr1:116569559C>T ENST00000369503.4 + 5 774 c.644C>T c.(643-645)gCc>gTc p.A215V SLC22A15_ENST00000369502.1_Missense_Mutation_p.A215V NM_018420.2 NP_060890.2 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 215 ion transport integral to membrane transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GCCCAATATGCCCTGTTAGGA 0.478000 4 134 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2384362 2384362 + Missense_Mutation SNP G G A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr20:2384362G>A ENST00000202625.2 + 9 1290 c.1229G>A c.(1228-1230)cGg>cAg p.R410Q TGM6_ENST00000381423.1_Missense_Mutation_p.R410Q NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 410 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) GATGAGAGCCGGGAGCGTGTA 0.577000 4 64 0 0 1 0 0 ZRANB1 54764 broad.mit.edu 37 10 126672053 126672053 + Silent SNP A A G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr10:126672053A>G ENST00000359653.4 + 8 2075 c.1704A>G c.(1702-1704)gaA>gaG p.E568E ZRANB1_ENST00000471421.1_3'UTR NM_017580.2 NP_060050.2 Q9UGI0 ZRAN1_HUMAN zinc finger, RAN-binding domain containing 1 568 OTU.|TRAF-binding. positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway aggresome|centrosome|intermediate filament cytoskeleton|nucleolus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 23 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172) Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119) TGTTGTGGGAACAGAGTTTTT 0.483000 17 86 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 100962536 100962536 + Splice_Site SNP G G A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr9:100962536G>A ENST00000375066.5 - 12 2636 c.2546_splice c.e12+1 p.R849_splice TBC1D2_ENST00000375064.1_Splice_Site_p.R860_splice|TBC1D2_ENST00000375063.1_Splice_Site_p.R400_splice|TBC1D2_ENST00000342112.5_Splice_Site_p.R642_splice NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 860 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) GTTCCTCACCGGCTGTTGGAG 0.537000 8 18 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 436435 436435 + Missense_Mutation SNP C C A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr3:436435C>A ENST00000256509.2 + 24 3616 c.2974C>A c.(2974-2976)Ccc>Acc p.P992T CHL1_ENST00000397491.2_Missense_Mutation_p.P976T NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 976 Fibronectin type-III 4. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TCCATCAAAGCCCAGCTGGCA 0.393000 12 48 2.61681e-11 2.72896e-11 1 1 0 FOXA1 3169 broad.mit.edu 37 14 38061231 38061231 + Missense_Mutation SNP A A T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr14:38061231A>T ENST00000250448.2 - 2 819 c.758T>A c.(757-759)aTg>aAg p.M253K FOXA1_ENST00000540786.1_Missense_Mutation_p.M220K|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 253 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding p.M253R(2)|p.M253K(2) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) GTTCTCGAACATGTTGCCGGA 0.687000 4 34 0 0 1 0 0 KCNK17 89822 broad.mit.edu 37 6 39272357 39272357 + Missense_Mutation SNP G G A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr6:39272357G>A ENST00000453413.2 - 3 567 c.427C>T c.(427-429)Ctc>Ttc p.L143F KCNK17_ENST00000373231.4_Missense_Mutation_p.L143F NM_001135111.1 NP_001128583.1 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 143 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 ACGAGGTTGAGTGGGATCCCC 0.637000 15 102 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49420696 49420696 + Missense_Mutation SNP G G A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr12:49420696G>A ENST00000301067.7 - 48 15052 c.15053C>T c.(15052-15054)aCa>aTa p.T5018I NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCGCAAGGCTGTGCCAAGCTG 0.627000 6 54 0 0 1 0 0 ASB15 142685 broad.mit.edu 37 7 123269122 123269122 + Silent SNP T T C TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr7:123269122T>C ENST00000451558.1 + 12 1595 c.1074T>C c.(1072-1074)gtT>gtC p.V358V ASB15_ENST00000275699.3_Silent_p.V358V|ASB15_ENST00000540573.1_Silent_p.V358V|ASB15_ENST00000451215.1_Silent_p.V358V|ASB15_ENST00000434204.1_Silent_p.V358V Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 358 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 ATTTTGGCGTTTCTAATAATG 0.453000 46 73 0 0 1 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102825947 102825947 + RNA SNP A A G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr7:102825947A>G ENST00000312132.4 - 0 3750 ACAGCTTGACACTTGCCATTG 0.373000 4 68 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22805204 22805204 + Missense_Mutation SNP G G A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr18:22805204G>A ENST00000361524.3 - 4 2826 c.2678C>T c.(2677-2679)gCa>gTa p.A893V ZNF521_ENST00000538137.2_Missense_Mutation_p.A893V|ZNF521_ENST00000584787.1_Missense_Mutation_p.A673V NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 893 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGTGTAGGCTGCCCCACAAAT 0.512000 T PAX5 ALL 4 51 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78380595 78380595 + Silent SNP G G C TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr11:78380595G>C ENST00000278550.7 - 32 7257 c.6795C>G c.(6793-6795)ggC>ggG p.G2265G NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 AGATATCACCGCCCCGCTGCC 0.602000 5 141 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963818 73963818 + Missense_Mutation SNP T T A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chrX:73963818T>A ENST00000373468.1 - 3 1225 c.574A>T c.(574-576)Aat>Tat p.N192Y KIAA2022_ENST00000055682.5_Missense_Mutation_p.N192Y Q5QGS0 K2022_HUMAN KIAA2022 192 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TATTTCATATTTTCTCCAGCA 0.458000 5 36 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 4 46 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90348339 90348339 + Silent SNP G G A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr15:90348339G>A ENST00000300060.6 - 4 1180 c.867C>T c.(865-867)taC>taT p.Y289Y NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 289 Interaction with HCoV-229E.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GCTTCTCCACGTAGTCGAACT 0.567000 16 79 0 0 1 0 0 TM7SF3 51768 broad.mit.edu 37 12 27152541 27152541 + Silent SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr12:27152541C>T ENST00000343028.4 - 3 540 c.315G>A c.(313-315)caG>caA p.Q105Q TM7SF3_ENST00000542667.1_5'UTR NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 105 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) TGCATGTACTCTGCTCTGGTC 0.473000 12 30 0 0 1 0 0 PCDHGA9 0 broad.mit.edu 37 5 140783254 140783254 + Silent SNP G G T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr5:140783254G>T ENST00000573521.1 + 1 735 c.735G>T c.(733-735)cgG>cgT p.R245R PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGCTCAACGGATTTACCGAG 0.557000 12 72 9.31168e-06 9.57398e-06 1 1 0 TTL 150465 broad.mit.edu 37 2 113260632 113260632 + Nonsense_Mutation SNP C C A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr2:113260632C>A ENST00000233336.5 + 5 940 c.749C>A c.(748-750)tCa>tAa p.S250* NM_153712.4 NP_714923.1 Q8NG68 TTL_HUMAN tubulin tyrosine ligase 250 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity breast(1)|large_intestine(2)|ovary(1) 4 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) AAAGAGTATTCAAAGAACTAC 0.383000 T ETV6 ALL 6 90 0.00116845 0.00116845 1 1 0 STARD13 90627 broad.mit.edu 37 13 33703513 33703513 + Missense_Mutation SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr13:33703513C>T ENST00000336934.5 - 5 1417 c.1301G>A c.(1300-1302)gGc>gAc p.G434D STARD13_ENST00000255486.4_Missense_Mutation_p.G426D|STARD13_ENST00000399365.3_Missense_Mutation_p.G316D NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 434 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CTGCTCTCTGCCCAGGGAGAT 0.567000 3 31 0 0 1 0 0 BDKRB1 0 broad.mit.edu 37 14 96730362 96730362 + Missense_Mutation SNP G G C TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr14:96730362G>C ENST00000216629.6 + 3 949 c.343G>C c.(343-345)Ggg>Cgg p.G115R RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.G115R NM_000710.3 NP_000701.2 P46663 BKRB1_HUMAN bradykinin receptor B1 115 elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1) 16 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) TGTCATCAACGGGGTCATCAA 0.572000 18 80 0 0 1 0 0 FAM133A 286499 broad.mit.edu 37 X 92964856 92964856 + Silent SNP G G A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chrX:92964856G>A ENST00000538690.1 + 5 999 c.438G>A c.(436-438)acG>acA p.T146T FAM133A_ENST00000332647.4_Silent_p.T146T|FAM133A_ENST00000355813.5_Silent_p.T146T|FAM133A_ENST00000322139.4_Silent_p.T146T NM_001171110.1 NP_001164581.1 Q8N9E0 F133A_HUMAN family with sequence similarity 133, member A 146 Lys-rich.|Ser-rich. breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1) 20 AAAGCTCTACGCATGAATCAG 0.368000 5 8 0 0 1 0 0 KIRREL3 84623 broad.mit.edu 37 11 126432745 126432745 + Missense_Mutation SNP G G A rs119462978 TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr11:126432745G>A ENST00000525144.2 - 2 367 c.118C>T c.(118-120)Cgg>Tgg p.R40W KIRREL3_ENST00000525704.2_Missense_Mutation_p.R40W|KIRREL3_ENST00000533026.2_5'UTR|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R40W|KIRREL3-AS1_ENST00000548204.1_RNA NM_032531.3 NP_115920.1 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 (Drosophila) 40 R -> W (in MRD4). hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1) 29 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) TTCATTCTCCGAAACTTGTCC 0.547000 12 36 0 0 1 0 0 UBXN2B 137886 broad.mit.edu 37 8 59343160 59343160 + Nonsense_Mutation SNP G G T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr8:59343160G>T ENST00000399598.2 + 3 393 c.271G>T c.(271-273)Gag>Tag p.E91* UBXN2B_ENST00000522978.1_3'UTR NM_001077619.1 NP_001071087.1 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 91 cytosol|endoplasmic reticulum|Golgi apparatus|nucleus endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 ACTTTTCAAAGAGGCAAGGGA 0.363000 15 39 2.31682e-05 2.349e-05 1 1 0 DYNC1H1 1778 broad.mit.edu 37 14 102482692 102482692 + Missense_Mutation SNP C C G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr14:102482692C>G ENST00000360184.4 + 37 7644 c.7480C>G c.(7480-7482)Ctg>Gtg p.L2494V NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2494 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 ATAGCGATATCTGGTTTATGC 0.408000 6 49 0 0 1 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102825946 102825946 + RNA SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr7:102825946C>T ENST00000312132.4 - 0 3751 GACAGCTTGACACTTGCCATT 0.373000 4 69 0 0 1 0 0 OR10T2 128360 broad.mit.edu 37 1 158369196 158369196 + Silent SNP G G A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr1:158369196G>A ENST00000334438.1 - 1 60 c.61C>T c.(61-63)Ctg>Ttg p.L21L NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) AGCTCCCCCAGGCTGGAGAAA 0.468000 4 27 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45695903 45695903 + Missense_Mutation SNP A A C TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr5:45695903A>C ENST00000303230.4 - 1 350 c.293T>G c.(292-294)tTc>tGc p.F98C NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 98 Involved in subunit assembly (By similarity). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CATGGAGGTGAACTGCCTCTG 0.682000 9 38 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281367 152281367 + Missense_Mutation SNP A A G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr1:152281367A>G ENST00000368799.1 - 3 6030 c.5995T>C c.(5995-5997)Tca>Cca p.S1999P FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1999 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGCACTTGATCTTGCCTGT 0.562000 Ichthyosis 97 519 0 0 1 0 0 PRKAA2 5563 broad.mit.edu 37 1 57161715 57161715 + Missense_Mutation SNP A A G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr1:57161715A>G ENST00000371244.4 + 6 737 c.671A>G c.(670-672)aAg>aGg p.K224R NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 224 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 ACGTTATTTAAGAAGATCCGA 0.463000 11 275 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 40 0 0 1 0 0 THEMIS2 9473 broad.mit.edu 37 1 28212408 28212408 + Missense_Mutation SNP T T G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr1:28212408T>G ENST00000373921.3 + 6 1911 c.1907T>G c.(1906-1908)cTt>cGt p.L636R THEMIS2_ENST00000373925.1_3'UTR|THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.L507R|THEMIS2_ENST00000492877.1_3'UTR NM_001105556.1 NP_001099026.1 thymocyte selection associated family member 2 GAAGAAATACTTGAGCAATTT 0.438000 13 53 0 0 1 0 0 MORN3 283385 broad.mit.edu 37 12 122107369 122107369 + Silent SNP T T C TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr12:122107369T>C ENST00000355329.3 - 1 191 c.21A>G c.(19-21)ccA>ccG p.P7P NM_173855.4 NP_776254.3 Q6PF18 MORN3_HUMAN MORN repeat containing 3 7 breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145) CCGACTTTTTTGGGCACTTAG 0.617000 7 89 0 0 1 0 0 KLHDC9 126823 broad.mit.edu 37 1 161069373 161069373 + Missense_Mutation SNP T T A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr1:161069373T>A ENST00000392192.2 + 3 834 c.692T>A c.(691-693)tTt>tAt p.F231Y KLHDC9_ENST00000490724.2_Intron|KLHDC9_ENST00000368011.4_Intron NM_001007255.2 NP_001007256.1 Q8NEP7 KLDC9_HUMAN kelch domain containing 9 0 lung(5)|upper_aerodigestive_tract(1) 6 all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GGACAGTCCTTTCTTTCTCCC 0.507000 19 309 0 0 1 0 0 TYW1 55253 broad.mit.edu 37 7 66563653 66563653 + Missense_Mutation SNP T T C TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr7:66563653T>C ENST00000359626.5 + 12 1674 c.1510T>C c.(1510-1512)Tgt>Cgt p.C504R NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 504 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) ACTCCACCAGTGTAAAATTTC 0.453000 4 70 0 0 1 0 0 LMAN1L 79748 broad.mit.edu 37 15 75114226 75114226 + Silent SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr15:75114226C>T ENST00000309664.5 + 10 1255 c.1116C>T c.(1114-1116)tcC>tcT p.S372S RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Silent_p.S360S NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 372 ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCCACCTCTCCATGTCACTCA 0.612000 8 41 0 0 1 0 0 OSGIN2 734 broad.mit.edu 37 8 90933337 90933337 + Silent SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr8:90933337C>T ENST00000451899.2 + 5 818 c.558C>T c.(556-558)agC>agT p.S186S OSGIN2_ENST00000297438.2_Silent_p.S142S|OSGIN2_ENST00000520659.1_Silent_p.S186S NM_001126111.1 NP_001119583.1 Q9Y236 OSGI2_HUMAN oxidative stress induced growth inhibitor family member 2 142 germ cell development|meiosis breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(11;0.0344) TGACAATCAGCTTTGGAAGTT 0.328000 6 156 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152676065 152676065 + Missense_Mutation SNP A A T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr6:152676065A>T ENST00000367255.5 - 67 11256 c.10655T>A c.(10654-10656)gTg>gAg p.V3552E SYNE1_ENST00000448038.1_Missense_Mutation_p.V3559E|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3523E|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3552E|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3559E NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3552 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGTGTGCAGCACTGAGTTCAA 0.542000 HNSCC(10;0.0054) 7 92 0 0 1 0 0 FOLR3 2352 broad.mit.edu 37 11 71850740 71850740 + Missense_Mutation SNP C C G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr11:71850740C>G ENST00000445078.2 + 5 794 c.723C>G c.(721-723)aaC>aaG p.N241K FOLR3_ENST00000456237.1_Missense_Mutation_p.N243K|FOLR3_ENST00000442948.2_Missense_Mutation_p.N200K P41439 FOLR3_HUMAN folate receptor 3 (gamma) 199 folic acid transport extracellular region|extrinsic to membrane|membrane fraction folic acid binding|receptor activity large_intestine(3)|lung(8)|prostate(2) 13 Folic Acid(DB00158) AGGTCAGCAACTATAGTCGAG 0.602000 4 44 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103063567 103063567 + Silent SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr2:103063567C>T ENST00000264260.2 + 10 1699 c.1110C>T c.(1108-1110)acC>acT p.T370T IL18RAP_ENST00000409369.1_Silent_p.T228T NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 370 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CCATCGGGACCCTGGTGGCCG 0.587000 5 167 0 0 1 0 0 CD248 57124 broad.mit.edu 37 11 66082816 66082816 + Silent SNP G G A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr11:66082816G>A ENST00000311330.3 - 1 1699 c.1683C>T c.(1681-1683)ctC>ctT p.L561L RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 561 Pro-rich. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) GCTGGGCACCGAGGGTGGTGA 0.622000 6 58 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230656648 230656649 + Frame_Shift_Del DEL TC TC - TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr2:230656648_230656649delTC ENST00000283943.5 - 28 4301_4302 c.4123_4124delGA c.(4123-4125)afs p.E1375fs TRIP12_ENST00000389045.3_Frame_Shift_Del_p.E1105fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.E1423fs NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1375 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) ATCTGTGGATTCTCTTTCATCT 0.396 16 98 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64532452 64532452 + RNA DEL T T - rs67432959 TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr7:64532452delT ENST00000426828.1 + 0 1228 NR_033416.1 atgcccagccttttttttttt 0.408 2 4 --- --- --- --- AZGP1P1 0 broad.mit.edu 37 7 99578706 99578706 + RNA DEL A A - TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr7:99578706delA ENST00000425474.1 + 0 87 NR_036679.1 cttagtttacagtgaaaacaa 0.522 5 6 --- --- --- --- AHCYL2 23382 broad.mit.edu 37 7 128865041 128865042 + Frame_Shift_Ins INS - - C TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr7:128865041_128865042insC ENST00000325006.3 + 1 178_179 c.124_125insC c.(124-126)cccfs p.P42fs AHCYL2_ENST00000446544.2_Frame_Shift_Ins_p.P42fs NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 42 one-carbon metabolic process adenosylhomocysteinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 GGGCGCCATGGCCCCCCCGGCG 0.787 2 4 --- --- --- --- ZNF598 90850 broad.mit.edu 37 16 2049882 2049883 + In_Frame_Ins INS - - TCC rs61746014 by1000genomes TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr16:2049882_2049883insTCC ENST00000563630.1 - 9 1744_1745 c.1502_1503insGGA c.(1501-1503)ggg>gGGAgg p.501_502insR ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR|ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR Q86UK7 ZN598_HUMAN zinc finger protein 598 556 intracellular zinc ion binding p.E555_D556insE(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 CCGGGCCGCCGTCCTCCTCCTC 0.703 3 6 --- --- --- --- RP11-44F14.1 0 broad.mit.edu 37 16 53404542 53404543 + RNA INS - - A TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr16:53404542_53404543insA ENST00000565421.1 - 0 410 TCTCCTTTCTCAAACTTAACCT 0.327 7 23 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 3 2 --- --- --- --- BRD4 23476 broad.mit.edu 37 19 15349706 15349708 + In_Frame_Del DEL GCT GCT - TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr19:15349706_15349708delGCT ENST00000263377.2 - 19 4087_4089 c.3866_3868delAGC c.(3865-3870)cgc>c p.QR1289del NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 1289 Poly-Gln. interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) tgctcctggcgctgctgctgctg 0.709 T C15orf55 lethal midline carcinoma of young people 2 4 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18842473 18842473 + RNA DEL G G - rs66618606 TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chr22:18842473delG ENST00000412938.1 + 0 2208 AGCTGCTGGTGGGGAGGTCTT 0.647 6 7 --- --- --- --- MECP2 4204 broad.mit.edu 37 X 153363076 153363078 + In_Frame_Del DEL CCT CCT - TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4f0563c-2660-42eb-aa93-bbe35d095334 5c82813e-861d-4893-bc6c-9cc3c0dba6c3 g.chrX:153363076_153363078delCCT ENST00000453960.2 - 1 99_101 c.45_47delAGG c.(43-48)ggc>gg p.GG15del MECP2_ENST00000303391.6_5'UTR|MECP2_ENST00000407218.1_5'UTR NM_001110792.1 NP_001104262.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 0 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTCCTCCTCGCCTCCTCCTCCTC 0.778 2 4 --- --- --- ---