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 CPE 1363 broad.mit.edu 37 4 166388891 166388891 + Missense_Mutation SNP G G T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr4:166388891G>T ENST00000402744.4 + 3 836 c.556G>T c.(556-558)Gat>Tat p.D186Y NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 186 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCAGGGAATAGATCTGAACCG 0.368000 19 45 4.96729e-08 5.47938e-08 1 1 0 ATP9A 10079 broad.mit.edu 37 20 50290746 50290746 + Missense_Mutation SNP C C A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr20:50290746C>A ENST00000338821.5 - 11 1247 c.983G>T c.(982-984)tGg>tTg p.W328L ATP9A_ENST00000402822.1_Missense_Mutation_p.W207L|ATP9A_ENST00000311637.5_Missense_Mutation_p.W192L NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 328 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CTGCAGGTACCAACGGCCTGC 0.537000 4 133 0.150653 0.152075 1 1 0 MYO18A 399687 broad.mit.edu 37 17 27434147 27434147 + Missense_Mutation SNP T T C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr17:27434147T>C ENST00000527372.1 - 20 3572 c.3392A>G c.(3391-3393)cAc>cGc p.H1131R MYO18A_ENST00000531253.1_Missense_Mutation_p.H1131R|MYO18A_ENST00000354329.4_Missense_Mutation_p.H1131R|MYO18A_ENST00000533112.1_Missense_Mutation_p.H1131R NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 1131 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CTTGGTCAGGTGCGGGGCCAG 0.622000 26 66 0 0 1 0 0 DDIT3 1649 broad.mit.edu 37 12 57910912 57910912 + Missense_Mutation SNP T T G TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr12:57910912T>G ENST00000551116.1 - 4 526 c.259A>C c.(259-261)Act>Cct p.T87P DDIT3_ENST00000547303.1_Missense_Mutation_p.T64P|DDIT3_ENST00000346473.3_Missense_Mutation_p.T64P|DDIT3_ENST00000552740.1_Missense_Mutation_p.T87P NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1 NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1 P35638 DDIT3_HUMAN DNA-damage-inducible transcript 3 64 cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding EWSR1/DDIT3(45)|FUS/DDIT3(631) central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1) 16 TCCTCCTCAGTCAGCCAAGCC 0.507000 T FUS liposarcoma 57 26 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 179983174 179983174 + Missense_Mutation SNP G G T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:179983174G>T ENST00000367607.3 + 10 2004 c.1586G>T c.(1585-1587)cGt>cTt p.R529L NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 529 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 ATTGAAATTCGTGGCATTCTT 0.388000 10 18 1.76689e-08 1.99008e-08 1 1 0 MEX3A 92312 broad.mit.edu 37 1 156046556 156046556 + Missense_Mutation SNP C C A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:156046556C>A ENST00000532414.2 - 2 1371 c.1372G>T c.(1372-1374)Ggc>Tgc p.G458C NM_001093725.1 NP_001087194.1 A1L020 MEX3A_HUMAN mex-3 RNA binding family member A 458 Poly-Gly. cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 Hepatocellular(266;0.158)|all_neural(408;0.195) CGCAGGCCGCCCCCACCAAGT 0.701000 4 22 1 1 1 1 0 ZNF420 147923 broad.mit.edu 37 19 37619738 37619738 + Silent SNP T T C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr19:37619738T>C ENST00000337995.3 + 5 2060 c.1845T>C c.(1843-1845)taT>taC p.Y615Y ZNF420_ENST00000586540.1_3'UTR|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Intron NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 615 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGAAGCCCTATGAATGCAGAG 0.433000 18 52 0 0 1 0 0 SLC25A13 10165 broad.mit.edu 37 7 95799415 95799415 + Missense_Mutation SNP T T G TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr7:95799415T>G ENST00000416240.2 - 13 1446 c.1256A>C c.(1255-1257)aAa>aCa p.K419T SLC25A13_ENST00000542654.1_Missense_Mutation_p.K310T|SLC25A13_ENST00000265631.5_Missense_Mutation_p.K418T NM_001160210.1|NM_014251.2 NP_001153682.1|NP_055066.1 Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 418 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) GTGCATAAATTTATCCCTCAC 0.343000 50 229 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16378296 16378296 + Silent SNP A A C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:16378296A>C ENST00000375679.4 + 14 1500 c.1389A>C c.(1387-1389)ccA>ccC p.P463P CLCNKB_ENST00000375667.3_Silent_p.P294P NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CCATCATGCCAGGGGGGTATG 0.622000 4 111 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24922991 24922991 + Silent SNP T T G TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr15:24922991T>G ENST00000329468.2 + 1 2451 c.1977T>G c.(1975-1977)gcT>gcG p.A659A NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CGCAGAAAGCTTCTCTCCCCA 0.493000 76 53 0 0 1 0 0 CROCCP3 114819 broad.mit.edu 37 1 16812970 16812970 + RNA SNP C C A rs150878633 by1000genomes TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:16812970C>A ENST00000263511.4 - 0 1341 NR_023386.1 TGCTGCTGGGCCAGGTCCTTC 0.647000 5 25 0.014758 0.0150391 1 1 0 THOC5 8563 broad.mit.edu 37 22 29927851 29927851 + Missense_Mutation SNP A A C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr22:29927851A>C ENST00000490103.1 - 8 938 c.816T>G c.(814-816)ttT>ttG p.F272L THOC5_ENST00000397873.2_Missense_Mutation_p.F272L|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.F272L|THOC5_ENST00000397872.1_Missense_Mutation_p.F272L NM_003678.4 NP_003669.4 Q13769 THOC5_HUMAN THO complex 5 272 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TGGCCTGAACAAAGAGGACAT 0.587000 40 33 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161302645 161302645 + Missense_Mutation SNP A A C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr5:161302645A>C ENST00000428797.2 + 7 911 c.556A>C c.(556-558)Agt>Cgt p.S186R GABRA1_ENST00000444819.1_Missense_Mutation_p.S186R|GABRA1_ENST00000393943.4_Missense_Mutation_p.S186R|GABRA1_ENST00000420560.1_Missense_Mutation_p.S186R|GABRA1_ENST00000023897.6_Missense_Mutation_p.S186R|GABRA1_ENST00000437025.2_Missense_Mutation_p.S186R NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 186 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) AAAATTTGGAAGTTGTGAGTA 0.398000 21 95 0 0 1 0 0 TBX19 9095 broad.mit.edu 37 1 168282089 168282089 + Missense_Mutation SNP C C A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:168282089C>A ENST00000367821.3 + 8 1247 c.1196C>A c.(1195-1197)gCa>gAa p.A399E TBX19_ENST00000465440.1_3'UTR NM_005149.2 NP_005140.1 O60806 TBX19_HUMAN T-box 19 399 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) TCCACCCAAGCACCCACTTCG 0.652000 17 87 1.15088e-07 1.24388e-07 1 1 0 SLIT3 6586 broad.mit.edu 37 5 168176494 168176494 + Missense_Mutation SNP T T A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr5:168176494T>A ENST00000519560.1 - 19 2539 c.2120A>T c.(2119-2121)cAg>cTg p.Q707L SLIT3_ENST00000404867.3_Missense_Mutation_p.Q707L|SLIT3_ENST00000332966.8_Missense_Mutation_p.Q707L NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 707 LRRCT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGTGAAGTCCTGGATGGCCAC 0.557000 41 116 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147183081 147183081 + Missense_Mutation SNP C C G TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr7:147183081C>G ENST00000361727.3 + 11 2241 c.1725C>G c.(1723-1725)agC>agG p.S575R NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 575 EGF-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CATGGGACAGCTTCAAATGCA 0.438000 HNSCC(39;0.1) 19 268 0 0 1 0 0 FAM227B 196951 broad.mit.edu 37 15 49860489 49860489 + Missense_Mutation SNP T T C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr15:49860489T>C ENST00000299338.6 - 9 1003 c.700A>G c.(700-702)Aca>Gca p.T234A FAM227B_ENST00000561064.1_Intron NM_152647.2 NP_689860.2 family with sequence similarity 227, member B ATGAAAAGTGTCACATAACTT 0.284000 25 17 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33632866 33632866 + Missense_Mutation SNP T T G TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr6:33632866T>G ENST00000374316.5 + 14 2345 c.1285T>G c.(1285-1287)Ttt>Gtt p.F429V ITPR3_ENST00000605930.1_Missense_Mutation_p.F429V Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 429 MIR 5. 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 CAAGGAGGCCTTTGCCATCGT 0.647000 39 224 0 0 1 0 0 NFIC 4782 broad.mit.edu 37 19 3382150 3382150 + Silent SNP C C T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr19:3382150C>T ENST00000589123.1 + 2 564 c.444C>T c.(442-444)tgC>tgT p.C148C NFIC_ENST00000586919.1_Silent_p.C148C|NFIC_ENST00000443272.2_Silent_p.C157C|NFIC_ENST00000395111.3_Silent_p.C148C|NFIC_ENST00000590282.1_Silent_p.C157C|NFIC_ENST00000346156.5_Silent_p.C148C|NFIC_ENST00000341919.3_Silent_p.C157C NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 157 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) CTGCGCAGTGCGGTCACCCGG 0.657000 4 122 0 0 1 0 0 TBX3 6926 broad.mit.edu 37 12 115120653 115120653 + Missense_Mutation SNP T T C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr12:115120653T>C ENST00000349155.2 - 1 1316 c.353A>G c.(352-354)aAg>aGg p.K118R TBX3_ENST00000257566.3_Missense_Mutation_p.K118R NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 118 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) GGTGCCCCGCTTGTGAAACTG 0.547000 23 72 0 0 1 0 0 C6orf25 80739 broad.mit.edu 37 6 31691431 31691431 + Missense_Mutation SNP G G A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr6:31691431G>A ENST00000375809.3 + 2 88 c.77G>A c.(76-78)cGc>cAc p.R26H C6orf25_ENST00000375805.2_Missense_Mutation_p.R26H|C6orf25_ENST00000480039.1_Missense_Mutation_p.R26H|C6orf25_ENST00000375810.4_Missense_Mutation_p.R26H NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 26 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 CTGGACGGCCGCCCTGGGGAC 0.637000 15 86 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 109 65 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13870934 13870934 + Missense_Mutation SNP G G A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr5:13870934G>A ENST00000265104.4 - 24 3880 c.3776C>T c.(3775-3777)gCg>gTg p.A1259V CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1259 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTCTTTCAGCGCTGCCATTGC 0.343000 Kartagener syndrome 14 78 0 0 1 0 0 FAM166A 401565 broad.mit.edu 37 9 140138224 140138224 + Nonsense_Mutation SNP G G T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr9:140138224G>T ENST00000344774.4 - 7 936 c.882C>A c.(880-882)taC>taA p.Y294* NM_001001710.1 NP_001001710.1 Q6J272 F166A_HUMAN family with sequence similarity 166, member A 294 kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2) 15 ATGTCAGGGCGTAGTTGTCCT 0.572000 16 132 4.14922e-12 4.82572e-12 1 1 0 TOM1L1 10040 broad.mit.edu 37 17 53037958 53037958 + Missense_Mutation SNP C C T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr17:53037958C>T ENST00000575882.1 + 15 1755 c.1402C>T c.(1402-1404)Cac>Tac p.H468Y TOM1L1_ENST00000536554.1_Missense_Mutation_p.H391Y|COX11_ENST00000573912.1_Intron|TOM1L1_ENST00000540336.1_Missense_Mutation_p.H356Y|TOM1L1_ENST00000348161.4_Missense_Mutation_p.H391Y|TOM1L1_ENST00000445275.2_Missense_Mutation_p.H457Y|TOM1L1_ENST00000572158.1_Missense_Mutation_p.H461Y NM_005486.2 NP_005477.2 O75674 TM1L1_HUMAN target of myb1 (chicken)-like 1 468 intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway cytosol|endosome membrane|Golgi stack|lysosome SH3 domain binding|ubiquitin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 15 TGCTCACCAGCACAAAGGAGC 0.323000 21 60 0 0 1 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179545806 179545806 + Missense_Mutation SNP G G C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr5:179545806G>C ENST00000393371.2 - 8 1264 c.968C>G c.(967-969)gCc>gGc p.A323G RASGEF1C_ENST00000361132.4_Missense_Mutation_p.A323G|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.A172G Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 323 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAAAAACTTGGCCGTCCTCAC 0.612000 38 127 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149907017 149907017 + Silent SNP G G A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:149907017G>A ENST00000439741.2 - 5 580 c.330C>T c.(328-330)agC>agT p.S110S MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Silent_p.S110S|MTMR11_ENST00000369140.3_Silent_p.S38S|MTMR11_ENST00000406732.3_Silent_p.S82S NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 110 phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GGGACAAGCCGCTCACTGAAG 0.542000 27 159 0 0 1 0 0 SRC 6714 broad.mit.edu 37 20 36028624 36028624 + Silent SNP T T C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr20:36028624T>C ENST00000373578.2 + 10 1315 c.966T>C c.(964-966)caT>caC p.H322H SRC_ENST00000358208.4_Silent_p.H322H|SRC_ENST00000445403.1_Silent_p.H322H|SRC_ENST00000373558.2_Silent_p.H328H|SRC_ENST00000360723.4_Silent_p.H328H|SRC_ENST00000373567.2_Silent_p.H322H|SRC_ENST00000477066.1_3'UTR NM_198291.1 NP_938033.1 P12931 SRC_HUMAN v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog 322 Protein kinase. axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation caveola|cytosol|mitochondrial inner membrane ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) Dasatinib(DB01254) AGCTGAGGCATGAGAAGCTGG 0.592000 14 104 0 0 1 0 0 STT3A 3703 broad.mit.edu 37 11 125472307 125472307 + Missense_Mutation SNP A A T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr11:125472307A>T ENST00000392708.4 + 4 418 c.259A>T c.(259-261)Aca>Tca p.T87S STT3A_ENST00000531491.1_5'UTR|STT3A_ENST00000529196.1_Missense_Mutation_p.T87S NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 87 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) CATTGGAGGAACAATTTACCC 0.383000 10 15 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158224770 158224770 + Missense_Mutation SNP C C G TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr4:158224770C>G ENST00000296526.7 + 3 621 c.296C>G c.(295-297)aCc>aGc p.T99S GRIA2_ENST00000264426.9_Missense_Mutation_p.T99S|GRIA2_ENST00000507898.1_Missense_Mutation_p.T52S|GRIA2_ENST00000504801.1_3'UTR|GRIA2_ENST00000449365.1_Missense_Mutation_p.T52S|GRIA2_ENST00000393815.2_Missense_Mutation_p.T52S NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 99 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TCTGTAAATACCATCACATCA 0.418000 25 83 0 0 1 0 0 FUT1 2523 broad.mit.edu 37 19 49254345 49254345 + Missense_Mutation SNP T T C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr19:49254345T>C ENST00000310160.3 - 4 1168 c.194A>G c.(193-195)aAc>aGc p.N65S NM_000148.3 NP_000139.1 P19526 FUT1_HUMAN fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) 65 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) AGAGGAGGCGTTGGGGCCCAT 0.627000 10 30 0 0 1 0 0 FAM63B 54629 broad.mit.edu 37 15 59064076 59064076 + Missense_Mutation SNP G G C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr15:59064076G>C ENST00000559228.1 + 1 564 c.482G>C c.(481-483)tGc>tCc p.C161S FAM63B_ENST00000450403.2_Missense_Mutation_p.C161S Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 161 central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 AGCAGCAGTTGCAGCGACCCG 0.652000 8 51 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554656 140554656 + Missense_Mutation SNP A A G TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr5:140554656A>G ENST00000231137.3 + 1 2414 c.2240A>G c.(2239-2241)tAc>tGc p.Y747C NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 747 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCCAGAGCTACCAGTATGAG 0.607000 50 151 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92461742 92461742 + Silent SNP A A G rs149334552 byFrequency TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr14:92461742A>G ENST00000267622.4 - 14 5383 c.5010T>C c.(5008-5010)gcT>gcC p.A1670A NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1670 A -> R (in Ref. 1; AAD09135). transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CCAGTGACAGAGCATACTGCT 0.418000 T PDGFRB AML 8 60 0 0 1 0 0 DDX41 51428 broad.mit.edu 37 5 176939832 176939832 + Missense_Mutation SNP C C T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr5:176939832C>T ENST00000507955.1 - 13 1871 c.1348G>A c.(1348-1350)Gag>Aag p.E450K NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 450 Helicase C-terminal. apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding p.E450*(1) all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) AGCAGGTACTCGTGGATGGCG 0.602000 51 204 0 0 1 0 0 VWA5A 4013 broad.mit.edu 37 11 124007882 124007882 + Missense_Mutation SNP A A C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr11:124007882A>C ENST00000456829.2 + 15 2037 c.1786A>C c.(1786-1788)Aac>Cac p.N596H VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.N596H NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 596 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 TAAGGAGCTCAACAAGCCGGT 0.473000 27 35 0 0 1 0 0 SLC22A12 116085 broad.mit.edu 37 11 64368212 64368212 + Missense_Mutation SNP C C T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr11:64368212C>T ENST00000377574.1 + 9 2147 c.1400C>T c.(1399-1401)aCg>aTg p.T467M SLC22A12_ENST00000336464.7_Missense_Mutation_p.T433M|SLC22A12_ENST00000473690.1_Missense_Mutation_p.T246M|SLC22A12_ENST00000377572.1_Missense_Mutation_p.T359M|SLC22A12_ENST00000377567.2_Missense_Mutation_p.T359M NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 467 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 GGCAGGATGACGGCAGTGGGC 0.677000 21 31 0 0 1 0 0 IQGAP1 8826 broad.mit.edu 37 15 90982589 90982589 + Missense_Mutation SNP G G A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr15:90982589G>A ENST00000268182.5 + 6 617 c.493G>A c.(493-495)Gcc>Acc p.A165T IQGAP1_ENST00000560738.1_Intron NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 165 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) GCTAGGCCTGGCCCCTCAGAT 0.458000 34 18 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71724439 71724439 + Silent SNP C C T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr11:71724439C>T ENST00000393695.3 - 15 4441 c.4110G>A c.(4108-4110)ctG>ctA p.L1370L NUMA1_ENST00000358965.6_Silent_p.L1370L|NUMA1_ENST00000351960.6_Intron NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1370 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 GCTCGGCCTGCAGCTGCTGGC 0.682000 T RARA APL 6 21 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153253809 153253809 + Nonsense_Mutation SNP A A T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr4:153253809A>T ENST00000281708.4 - 6 2153 c.924T>A c.(922-924)tgT>tgA p.C308* FBXW7_ENST00000296555.5_Nonsense_Mutation_p.C190*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.C308*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.C308*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.C132*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.C228* NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 308 F-box. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TCCAGTAGCGACATGTCTGAG 0.378000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 15 43 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50532116 50532116 + Missense_Mutation SNP G G A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr10:50532116G>A ENST00000374144.3 + 3 1814 c.1526G>A c.(1525-1527)cGt>cAt p.R509H C10orf71_ENST00000323868.4_Missense_Mutation_p.R509H Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 509 endometrium(1) 1 GTGCGGAAGCGTGTTAAGAGC 0.493000 11 19 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270015 114270015 + Silent SNP A A G rs146945410 byFrequency TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr7:114270015A>G ENST00000393500.3 + 11 1147 c.327A>G c.(325-327)caA>caG p.Q109Q FOXP2_ENST00000390668.3_Silent_p.Q208Q|FOXP2_ENST00000393494.2_Silent_p.Q184Q|FOXP2_ENST00000403559.4_Silent_p.Q201Q|FOXP2_ENST00000393498.2_Silent_p.Q164Q|FOXP2_ENST00000350908.4_Silent_p.Q184Q|FOXP2_ENST00000393491.3_Silent_p.Q92Q|FOXP2_ENST00000360232.4_Silent_p.Q184Q|FOXP2_ENST00000408937.3_Silent_p.Q209Q|FOXP2_ENST00000393489.3_Silent_p.Q92Q|FOXP2_ENST00000378237.3_Silent_p.Q184Q O15409 FOXP2_HUMAN forkhead box P2 184 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|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|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcaacagcagcagc 0.502000 5 149 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69646512 69646512 + Missense_Mutation SNP A A T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr6:69646512A>T ENST00000370598.1 + 5 1791 c.970A>T c.(970-972)Aca>Tca p.T324S NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 324 TSP type-1 1. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ACCTTACGGGACACACTGCAG 0.493000 8 17 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231404024 231404024 + Missense_Mutation SNP C C T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr2:231404024C>T ENST00000340126.4 + 25 2168 c.2137C>T c.(2137-2139)Cgg>Tgg p.R713W AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA NM_001080391.1 NP_001073860.1 P23497 SP100_HUMAN SP100 nuclear antigen 0 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CAAATGGGGACGGCTGTTCTG 0.498000 27 85 0 0 1 0 0 DARC 2532 broad.mit.edu 37 1 159175977 159175977 + Missense_Mutation SNP T T C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:159175977T>C ENST00000537147.1 + 3 1591 c.748T>C c.(748-750)Ttt>Ctt p.F250L DARC_ENST00000368121.2_Missense_Mutation_p.F252L|DARC_ENST00000368122.2_Missense_Mutation_p.F250L Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 250 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) GTGGGCCTGGTTTATTTTCTG 0.537000 43 202 0 0 1 0 0 FBXL5 26234 broad.mit.edu 37 4 15614017 15614017 + Missense_Mutation SNP C C A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr4:15614017C>A ENST00000341285.3 - 10 1995 c.1871G>T c.(1870-1872)gGg>gTg p.G624V FBXL5_ENST00000412094.2_Missense_Mutation_p.G607V|FBXL5_ENST00000382358.4_Missense_Mutation_p.G498V NM_001193534.1|NM_001193535.1|NM_012161.3 NP_001180463.1|NP_001180464.1|NP_036293.1 Q9UKA1 FBXL5_HUMAN F-box and leucine-rich repeat protein 5 624 iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|SCF ubiquitin ligase complex iron ion binding|protein binding|ubiquitin-protein ligase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 ATAAGGCAGCCCTCCTCCCAG 0.388000 14 50 1.15088e-07 1.24388e-07 1 1 0 REPS1 85021 broad.mit.edu 37 6 139262535 139262535 + Missense_Mutation SNP C C T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr6:139262535C>T ENST00000450536.2 - 8 1646 c.1072G>A c.(1072-1074)Gat>Aat p.D358N REPS1_ENST00000367663.4_Missense_Mutation_p.D358N|REPS1_ENST00000258062.5_Missense_Mutation_p.D358N|REPS1_ENST00000409812.2_Missense_Mutation_p.D358N|REPS1_ENST00000415951.2_Missense_Mutation_p.D358N Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 358 EH 2. coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) TCTGGTAAATCATAGCCATTC 0.418000 50 51 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65946280 65946280 + Missense_Mutation SNP G G T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr15:65946280G>T ENST00000261892.6 + 10 3450 c.3163G>T c.(3163-3165)Gtg>Ttg p.V1055L SLC24A1_ENST00000546330.1_Missense_Mutation_p.V1037L|SLC24A1_ENST00000399033.4_Missense_Mutation_p.V1025L|SLC24A1_ENST00000537259.1_Intron|SLC24A1_ENST00000339868.6_Missense_Mutation_p.V1037L|SLC24A1_ENST00000544319.2_Missense_Mutation_p.V941L|SLC24A1_ENST00000449142.2_3'UTR NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 1055 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity p.V1055M(1) breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GCTTCTGTTTGTGATCTCTTC 0.388000 17 122 1.33834e-09 1.52343e-09 1 1 0 KNDC1 85442 broad.mit.edu 37 10 135010589 135010589 + Missense_Mutation SNP G G T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr10:135010589G>T ENST00000304613.3 + 11 1783 c.1762G>T c.(1762-1764)Ggc>Tgc p.G588C KNDC1_ENST00000368572.2_Missense_Mutation_p.G588C|KNDC1_ENST00000368571.2_Missense_Mutation_p.G523C Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 588 KIND 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CCTCCAGCGAGGCATGGACAG 0.657000 21 23 3.65163e-15 4.34138e-15 1 1 0 B4GALT2 8704 broad.mit.edu 37 1 44447428 44447428 + Silent SNP C C T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:44447428C>T ENST00000356836.6 + 3 1171 c.381C>T c.(379-381)ggC>ggT p.G127G B4GALT2_ENST00000434555.2_Silent_p.G61G|B4GALT2_ENST00000372324.1_Silent_p.G127G|B4GALT2_ENST00000309519.7_Silent_p.G156G NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 127 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) AGAACCCAGGCGTGCTCATGG 0.632000 24 92 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39016026 39016026 + Missense_Mutation SNP T T G TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr19:39016026T>G ENST00000355481.4 + 70 10626 c.10495T>G c.(10495-10497)Tct>Gct p.S3499A RYR1_ENST00000360985.3_Missense_Mutation_p.S3504A|RYR1_ENST00000359596.3_Missense_Mutation_p.S3504A NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3504 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 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) GGACCGGTACTCTGTGCAGAC 0.622000 38 102 0 0 1 0 0 MACROD2 140733 broad.mit.edu 37 20 15913923 15913923 + Missense_Mutation SNP G G A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr20:15913923G>A ENST00000217246.4 + 11 1173 c.778G>A c.(778-780)Gag>Aag p.E260K MACROD2_ENST00000310348.4_Missense_Mutation_p.E260K|MACROD2_ENST00000402914.1_Missense_Mutation_p.E25K|MACROD2_ENST00000378058.3_Missense_Mutation_p.E25K NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 260 Glu-rich. breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) CTTGAAAGATGAGAACGGTCC 0.398000 14 101 0 0 1 0 0 SF3A3 10946 broad.mit.edu 37 1 38455594 38455594 + Missense_Mutation SNP T T C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:38455594T>C ENST00000373019.4 - 1 999 c.44A>G c.(43-45)aAg>aGg p.K15R SF3A3_ENST00000448721.2_Missense_Mutation_p.K15R NM_006802.2 NP_006793.1 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3, 60kDa 15 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2) 12 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GAGCCGTTCCTTCTCCTCATG 0.572000 OREG0013386 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 102 71 0 0 1 0 0 ADNP 23394 broad.mit.edu 37 20 49510900 49510900 + Silent SNP G G A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr20:49510900G>A ENST00000396029.3 - 5 918 c.351C>T c.(349-351)gaC>gaT p.D117D ADNP_ENST00000349014.3_Silent_p.D117D|ADNP_ENST00000371602.4_Silent_p.D117D|ADNP_ENST00000396032.3_Silent_p.D117D NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 117 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 AAGTCTTTTTGTCTGCATTGA 0.388000 15 254 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156821441 156821441 + Missense_Mutation SNP C C T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:156821441C>T ENST00000368195.3 - 4 1477 c.1081G>A c.(1081-1083)Ggc>Agc p.G361S NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 361 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TACTGACAGCCCTGGCGAAGG 0.567000 4 50 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15726039 15726039 + Missense_Mutation SNP A A T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr10:15726039A>T ENST00000378076.3 - 4 885 c.532T>A c.(532-534)Ttc>Atc p.F178I NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 178 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TAGGCGCTGAAGTTCTGAATT 0.453000 22 33 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50953532 50953532 + Missense_Mutation SNP C C T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr10:50953532C>T ENST00000374103.4 - 12 1572 c.1487G>A c.(1486-1488)cGc>cAc p.R496H OGDHL_ENST00000419399.1_Missense_Mutation_p.R439H|OGDHL_ENST00000432695.1_Missense_Mutation_p.R287H NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 496 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GCCACGCCGGCGGTAACAGAC 0.577000 29 37 0 0 1 0 0 POLR2J 5439 broad.mit.edu 37 7 102114809 102114809 + Missense_Mutation SNP C C A rs143605325 TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr7:102114809C>A ENST00000393794.3 - 3 355 c.317G>T c.(316-318)cGg>cTg p.R106L POLR2J_ENST00000292614.5_Splice_Site_p.R106_splice P52435 RPB11_HUMAN polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa 106 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|LRR domain binding|protein dimerization activity pancreas(2) 2 CGCCCTCACCCGAAAGCGCTC 0.672000 31 281 1.39806e-14 1.64387e-14 1 1 0 ORC2 4999 broad.mit.edu 37 2 201798644 201798644 + Silent SNP G G T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr2:201798644G>T ENST00000234296.2 - 10 1011 c.762C>A c.(760-762)acC>acA p.T254T NM_006190.4 NP_006181.1 Q13416 ORC2_HUMAN origin recognition complex, subunit 2 254 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 20 TTCTATCAGAGGTTAAAACTT 0.343000 4 92 3.59834e-05 3.77473e-05 1 1 0 LINC01410 103352539 broad.mit.edu 37 9 66459863 66459863 + RNA SNP G G A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr9:66459863G>A ENST00000424345.1 + 0 123 tttcctggatggtgttgatgc 0.363000 3 17 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43182949 43182949 + Missense_Mutation SNP C C T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr6:43182949C>T ENST00000252050.4 + 30 5905 c.5821C>T c.(5821-5823)Cgg>Tgg p.R1941W RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.R1913W|CUL9_ENST00000354495.3_Missense_Mutation_p.R1831W NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1941 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CTACGTGAAACGGCGTGATGA 0.622000 61 216 0 0 1 0 0 GPX5 2880 broad.mit.edu 37 6 28500111 28500111 + Missense_Mutation SNP G G T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr6:28500111G>T ENST00000412168.2 + 4 462 c.373G>T c.(373-375)Ggg>Tgg p.G125W GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Missense_Mutation_p.Q85H NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 125 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) TGTCCGTCCAGGGGGAGGATT 0.413000 24 199 2.48779e-11 2.8623e-11 1 1 0 DNAH2 146754 broad.mit.edu 37 17 7708594 7708594 + Missense_Mutation SNP G G A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr17:7708594G>A ENST00000572933.1 + 61 10785 c.9325G>A c.(9325-9327)Gat>Aat p.D3109N DNAH2_ENST00000389173.2_Missense_Mutation_p.D3109N Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3109 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GAACAAGAAGGATATAGGAGA 0.532000 25 47 0 0 1 0 0 CLCN6 1185 broad.mit.edu 37 1 11897422 11897422 + Missense_Mutation SNP T T C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:11897422T>C ENST00000346436.6 + 20 2213 c.2161T>C c.(2161-2163)Tac>Cac p.Y721H CLCN6_ENST00000376496.3_Missense_Mutation_p.Y721H|CLCN6_ENST00000376487.3_Missense_Mutation_p.Y699H|CLCN6_ENST00000312413.6_3'UTR NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 721 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) CCCCAACCTATACCCTGACCA 0.592000 57 122 0 0 1 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138738782 138738782 + Silent SNP A A C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr7:138738782A>C ENST00000242351.5 - 11 2563 c.2247T>G c.(2245-2247)gcT>gcG p.A749A ZC3HAV1_ENST00000464606.1_Silent_p.A871A NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 749 PARP catalytic. response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 TTTTCATGGAAGCTTTAAAAT 0.333000 37 66 0 0 1 0 0 TMEM53 79639 broad.mit.edu 37 1 45120842 45120842 + Missense_Mutation SNP C C G TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:45120842C>G ENST00000372237.3 - 3 386 c.223G>C c.(223-225)Gtc>Ctc p.V75L TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372235.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372242.3_Missense_Mutation_p.V75L NM_024587.2 NP_078863.2 Q6P2H8 TMM53_HUMAN transmembrane protein 53 75 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1) 10 Acute lymphoblastic leukemia(166;0.155) GAGAAGAAGACCATGTGCCAC 0.552000 OREG0013446 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 66 0 0 1 0 0 TBL3 10607 broad.mit.edu 37 16 2028390 2028390 + Silent SNP G G T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr16:2028390G>T ENST00000568546.1 + 21 2339 c.2211G>T c.(2209-2211)gtG>gtT p.V737V NM_006453.2 NP_006444.2 Q12788 TBL3_HUMAN transducin (beta)-like 3 737 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 18 TGCTGGGTGTGCTCTTGAGGC 0.677000 28 113 6.07407e-21 7.30254e-21 1 1 0 PLVAP 83483 broad.mit.edu 37 19 17476978 17476978 + Silent SNP G G A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr19:17476978G>A ENST00000252590.4 - 2 457 c.396C>T c.(394-396)taC>taT p.Y132Y NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 132 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TGGCAGCCATGTACCTCTGAT 0.547000 14 183 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17698929 17698929 + Missense_Mutation SNP T T C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr2:17698929T>C ENST00000399080.2 - 1 777 c.754A>G c.(754-756)Aga>Gga p.R252G NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 252 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CCGCTATCTCTAAAATAGCTA 0.343000 14 64 0 0 1 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49340606 49340606 + Silent SNP G G A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr19:49340606G>A ENST00000263265.6 - 20 2835 c.2280C>T c.(2278-2280)gtC>gtT p.V760V PLEKHA4_ENST00000355496.5_3'UTR NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 760 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) CTTGTGGCAGGACCGGAGGGG 0.667000 17 63 0 0 1 0 0 ST6GALNAC2 10610 broad.mit.edu 37 17 74569286 74569286 + Missense_Mutation SNP T T C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr17:74569286T>C ENST00000225276.5 - 4 840 c.521A>G c.(520-522)tAt>tGt p.Y174C ST6GALNAC2_ENST00000586520.1_5'UTR NM_006456.2 NP_006447.2 Q9UJ37 SIA7B_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 174 protein glycosylation integral to Golgi membrane sialyltransferase activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 11 CCTGAATACATAGTCATGGGC 0.637000 6 40 0 0 1 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21350059 21350059 + Missense_Mutation SNP G G A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr12:21350059G>A ENST00000256958.2 + 8 1003 c.907G>A c.(907-909)Gat>Aat p.D303N NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 303 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) GGAAACAAATGATGAAAAGGA 0.323000 25 55 0 0 1 0 0 ESPNL 339768 broad.mit.edu 37 2 239040199 239040199 + Silent SNP C C T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr2:239040199C>T ENST00000343063.3 + 9 3107 c.2844C>T c.(2842-2844)ctC>ctT p.L948L ESPNL_ENST00000409506.1_Silent_p.L580L|ESPNL_ENST00000409169.1_Silent_p.L904L|ESPNL_ENST00000477241.1_3'UTR NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 948 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) TGACCCTGCTCGGGCCCCTGC 0.697000 11 16 0 0 1 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52131311 52131311 + Missense_Mutation SNP G G A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr19:52131311G>A ENST00000222107.4 - 5 911 c.773C>T c.(772-774)cCg>cTg p.P258L SIGLEC5_ENST00000599649.1_Missense_Mutation_p.P258L|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.P258L|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.P258L|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.P258L O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 258 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding p.P258L(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) CTCCAGGACCGGAAGGTATGA 0.627000 27 67 0 0 1 0 0 LMBR1L 55716 broad.mit.edu 37 12 49504278 49504278 + Missense_Mutation SNP G G A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr12:49504278G>A ENST00000267102.8 - 1 403 c.61C>T c.(61-63)Cgc>Tgc p.R21C LMBR1L_ENST00000553204.1_5'UTR|LMBR1L_ENST00000547382.1_Missense_Mutation_p.R21C NM_018113.2 NP_060583.2 Q6UX01 LMBRL_HUMAN limb development membrane protein 1-like 21 LCN1-binding. endocytosis integral to membrane|plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 ATACACTCGCGGATCCTCTCG 0.627000 4 148 0 0 1 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21940511 21940511 + Silent SNP G G A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:21940511G>A ENST00000542643.2 - 9 665 c.363C>T c.(361-363)atC>atT p.I121I RAP1GAP_ENST00000374763.2_Silent_p.I121I|RAP1GAP_ENST00000374765.4_Silent_p.I121I|RAP1GAP_ENST00000374761.2_Silent_p.I152I|RAP1GAP_ENST00000290101.4_Silent_p.I185I|RAP1GAP_ENST00000374757.3_5'UTR NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 121 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) CTTGGTCCCCGATGACATCGT 0.592000 11 18 0 0 1 0 0 CEP97 79598 broad.mit.edu 37 3 101476781 101476781 + Missense_Mutation SNP A A G TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr3:101476781A>G ENST00000341893.3 + 9 2083 c.1331A>G c.(1330-1332)gAa>gGa p.E444G CEP97_ENST00000327230.4_Missense_Mutation_p.E444G|CEP97_ENST00000494050.1_Missense_Mutation_p.E385G Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 444 CEP110 binding. centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 AAAGGGCTGGAAAGCCAGGTG 0.453000 24 30 0 0 1 0 0 GRSF1 2926 broad.mit.edu 37 4 71691020 71691020 + Silent SNP G G A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr4:71691020G>A ENST00000254799.6 - 8 1503 c.1386C>T c.(1384-1386)tcC>tcT p.S462S GRSF1_ENST00000439371.1_Silent_p.S300S|GRSF1_ENST00000545193.1_Silent_p.S344S|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Silent_p.S300S NM_002092.3 NP_002083.3 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 462 RRM 3. mRNA polyadenylation mRNA binding|nucleotide binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) TACGAACGTGGGACCGATCCT 0.448000 4 38 0 0 1 0 0 DUSP10 11221 broad.mit.edu 37 1 221912497 221912497 + Missense_Mutation SNP G G A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:221912497G>A ENST00000366899.3 - 2 828 c.590C>T c.(589-591)gCc>gTc p.A197V DUSP10_ENST00000323825.3_Intron NM_007207.4 NP_009138.1 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 197 Rhodanese. inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(131;0.0103) GATCTTATCGGCACAGTTAAT 0.517000 4 118 0 0 1 0 0 ZDHHC14 79683 broad.mit.edu 37 6 158093953 158093953 + Silent SNP G G A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr6:158093953G>A ENST00000359775.5 + 9 2155 c.1266G>A c.(1264-1266)acG>acA p.T422T ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Silent_p.T407T Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 422 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) CCGAGGCCACGCTCGCGGACG 0.736000 5 11 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63727222 63727222 + Missense_Mutation SNP G G T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr7:63727222G>T ENST00000421025.1 + 5 1480 c.1211G>T c.(1210-1212)gGa>gTa p.G404V ZNF679_ENST00000255746.4_Missense_Mutation_p.G404V NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 ATGCATACTGGAGAGAAACCC 0.338000 3 25 6.4e-05 6.64854e-05 1 1 0 EID3 493861 broad.mit.edu 37 12 104698185 104698185 + Missense_Mutation SNP C C T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr12:104698185C>T ENST00000527879.1 + 1 669 c.473C>T c.(472-474)gCa>gTa p.A158V TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000354940.6_Intron NM_001008394.2 NP_001008395.1 Q8N140 EID3_HUMAN EP300 interacting inhibitor of differentiation 3 158 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 GAAAAGGAAGCAACATCCTGG 0.433000 66 156 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28261293 28261293 + Missense_Mutation SNP T T C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr15:28261293T>C ENST00000354638.3 - 8 1002 c.847A>G c.(847-849)Agc>Ggc p.S283G OCA2_ENST00000382996.2_Missense_Mutation_p.S283G|OCA2_ENST00000353809.5_Missense_Mutation_p.S283G NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 283 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) GAGTGCTCGCTTCTCCTCGGA 0.502000 Oculocutaneous Albinism 41 72 0 0 1 0 0 TRBV11-1 28582 broad.mit.edu 37 7 142224278 142224278 + RNA SNP G G T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr7:142224278G>T ENST00000390367.3 - 0 6 GGCAGGGTCAGGGCAGGATGG 0.542000 13 75 1.49906e-05 1.58811e-05 1 1 0 LINC01410 103352539 broad.mit.edu 37 9 66459862 66459862 + RNA SNP T T C rs142101130 by1000genomes TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr9:66459862T>C ENST00000424345.1 + 0 122 ttttcctggatggtgttgatg 0.363000 4 17 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16910916 16910916 + Missense_Mutation SNP G G A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr19:16910916G>A ENST00000524140.2 + 17 4097 c.3679G>A c.(3679-3681)Gtc>Atc p.V1227I NWD1_ENST00000552788.1_Missense_Mutation_p.V1227I|NWD1_ENST00000549814.1_Missense_Mutation_p.V1185I|NWD1_ENST00000523826.1_Missense_Mutation_p.V1021I|NWD1_ENST00000379808.3_Missense_Mutation_p.V1227I|NWD1_ENST00000339803.6_Missense_Mutation_p.V1092I NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1227 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TGGAAGCTACGTCTACTTCCC 0.502000 33 51 0 0 1 0 0 AP006222.2 0 broad.mit.edu 37 1 255909 255910 + RNA INS - - TG TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:255909_255910insTG ENST00000424587.2 - 0 263 gtgtgtgtgtatgtgtgtgtgt 0.361 3 3 --- --- --- --- LINC01128 643837 broad.mit.edu 37 1 790342 790342 + RNA DEL C C - TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:790342delC ENST00000445118.2 + 0 2122 NR_047519.1|NR_047520.1|NR_047521.1|NR_047522.1|NR_047523.1|NR_047524.1|NR_047525.1 GGCCATGGAGCACCCAGCAAG 0.597 2 4 --- --- --- --- RP11-70P17.1 0 broad.mit.edu 37 1 25912981 25912982 + RNA DEL GT GT - rs66843792 TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:25912981_25912982delGT ENST00000412797.1 + 0 295 gtgcgtgtgcgtgtgtgtgtgt 0.574 2 4 --- --- --- --- RP5-936J12.1 0 broad.mit.edu 37 1 103272651 103272652 + RNA INS - - T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:103272651_103272652insT ENST00000414418.1 - 0 251 caacttcttcctgttttagtct 0.347 2 4 --- --- --- --- RP11-373J16.1 0 broad.mit.edu 37 1 188974189 188974190 + RNA DEL AA AA - TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:188974189_188974190delAA ENST00000445072.1 + 0 239 CAGTGCTCCTAAAAATTATTGT 0.267 2 4 --- --- --- --- LINC01031 101929184 broad.mit.edu 37 1 193299749 193299750 + RNA INS - - A rs144219610 TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:193299749_193299750insA ENST00000420807.1 + 0 194 ttctcaaaaagaaaaaaaaaaa 0.361 2 4 --- --- --- --- PCNXL2 80003 broad.mit.edu 37 1 233296129 233296130 + Frame_Shift_Ins INS - - A TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr1:233296129_233296130insA ENST00000258229.8 - 19 3650_3651 c.3416_3417insT c.(3415-3417)gacfs p.D1139fs PCNXL2_ENST00000488780.2_Frame_Shift_Ins_p.D272fs|PCNXL2_ENST00000520463.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1139 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CGTAATGTGTTACAAACCCCAC 0.490 20 68 --- --- --- --- LOC101927533 101927533 broad.mit.edu 37 2 65807281 65807281 + RNA DEL C C - rs36124729 TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr2:65807281delC ENST00000377977.3 + 0 862 tcctccttctccccctccatc 0.557 4 3 --- --- --- --- CTBP1-AS2 92070 broad.mit.edu 37 4 1276979 1276980 + RNA INS - - TGG TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr4:1276979_1276980insTGG ENST00000578730.1 + 0 2372 AACCGTGGGAATGGGTGGGCGT 0.515 3 3 --- --- --- --- RP11-549K20.1 0 broad.mit.edu 37 5 25137790 25137797 + RNA DEL AAAACAAA AAAACAAA - rs10599450 TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr5:25137790_25137797delAAAACAAA ENST00000507600.1 - 0 280 aaaacaaaacaaaacaaaaaaacaaaaA 0.337 3 3 --- --- --- --- HMGB3P22 729595 broad.mit.edu 37 5 179121452 179121452 + RNA DEL T T - TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr5:179121452delT ENST00000442010.2 + 0 399 AGAAGGATCCTAGTGCCCCCA 0.473 11 39 --- --- --- --- HLA-DRB6 3128 broad.mit.edu 37 6 32524875 32524876 + RNA INS - - AA rs112981870 by1000genomes TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr6:32524875_32524876insAA ENST00000411500.1 - 0 458 NR_001298.1 AATTACAAATCaaaaatataaa 0.277 2 4 --- --- --- --- AC073316.1 0 broad.mit.edu 37 7 3337336 3337338 + RNA DEL GAG GAG - rs71881628 TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr7:3337336_3337338delGAG ENST00000437354.1 - 0 224 agtggaagaagaggaggaggagg 0.448 9 5 --- --- --- --- AC004540.5 0 broad.mit.edu 37 7 26485559 26485559 + RNA DEL A A - TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr7:26485559delA ENST00000418758.2 + 0 468 gtttcaaaagaaaaaaaaaaa 0.458 3 3 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100387899 100387899 + RNA DEL T T - TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr7:100387899delT ENST00000542585.1 + 0 7502 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) aaaaaGTTAATTAAggctggg 0.537 2 4 --- --- --- --- RP11-395B7.2 0 broad.mit.edu 37 7 100611204 100611204 + RNA DEL C C - rs142957258 TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr7:100611204delC ENST00000420080.1 - 0 85 TGTATCTTCTCCCCTTCTGAG 0.577 3 4 --- --- --- --- LOC101928254 101928254 broad.mit.edu 37 7 124896141 124896141 + RNA DEL T T - TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr7:124896141delT ENST00000420224.1 - 0 249 RP11-3B12.2_ENST00000424515.2_RNA AACATGATTCTTTACAGGGCT 0.393 2 4 --- --- --- --- LINC01410 103352539 broad.mit.edu 37 9 66466800 66466800 + RNA DEL G G - rs139943429 by1000genomes TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr9:66466800delG ENST00000424345.1 + 0 1433 CCTCATCAGAGGACCCCAGAT 0.522 2 4 --- --- --- --- LINC01410 103352539 broad.mit.edu 37 9 66468616 66468616 + RNA DEL G G - TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr9:66468616delG ENST00000424345.1 + 0 2183 CACTACAAAAgttctcttttg 0.348 2 4 --- --- --- --- LOC100996643 100996643 broad.mit.edu 37 9 67295161 67295161 + RNA DEL T T - TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr9:67295161delT ENST00000432011.2 + 0 501 tgtttcttggttttttttttt 0.378 4 2 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68398047 68398047 + RNA DEL G G - rs80228104 TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr9:68398047delG ENST00000417843.2 - 0 2708 TTTTTCTAGAGTTTTTTTTTA 0.368 2 4 --- --- --- --- RP11-491H19.1 0 broad.mit.edu 37 10 63548672 63548672 + RNA DEL C C - TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr10:63548672delC ENST00000441001.2 - 0 237 cgcctgtagtccctgcttctt 0.537 2 4 --- --- --- --- RNF219-AS1 100874222 broad.mit.edu 37 13 78793452 78793452 + RNA DEL A A - TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr13:78793452delA ENST00000607862.1 + 0 230 RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000606187.1_RNA|RNF219-AS1_ENST00000444769.3_RNA TGTTGTCCCCAAAAGGAACCA 0.413 2 4 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20145717 20145717 + RNA DEL A A - TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr14:20145717delA ENST00000548261.1 + 0 391 AAAACCTTTGAAAATAATTCT 0.294 2 4 --- --- --- --- LINC00924 145820 broad.mit.edu 37 15 96004941 96004943 + RNA DEL AGG AGG - rs112955459 TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr15:96004941_96004943delAGG ENST00000556053.1 + 0 337 NR_027132.1 aaagaaagaaaggaggaaaggat 0.330 3 3 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620932 27620934 + In_Frame_Del DEL TGG TGG - rs1054145 byFrequency TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr17:27620932_27620934delTGG ENST00000225388.4 - 1 202_204 c.144_146delCCA c.(142-147)cat>ca p.HH50del NUFIP2_ENST00000579665.1_In_Frame_Del_p.HH50del NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 50 His-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) Ctggtgatgatggtggtggtggt 0.591 7 222 --- --- --- --- LINC01478 101927921 broad.mit.edu 37 18 41996291 41996291 + RNA DEL T T - TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr18:41996291delT ENST00000587877.1 - 0 386 gctgcaggagttttttttcca 0.532 2 4 --- --- --- --- SPPL2B 56928 broad.mit.edu 37 19 2348742 2348743 + RNA DEL TC TC - TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr19:2348742_2348743delTC ENST00000452401.2 + 0 1431 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity Hepatocellular(1079;0.137) 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) TTGATTCCGTTCTCTCTCTCCA 0.515 2 4 --- --- --- --- EML2 24139 broad.mit.edu 37 19 46148621 46148621 + Frame_Shift_Del DEL C C - TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr19:46148621delC ENST00000587152.1 - 1 266 c.82delG c.(82-84)ccfs p.A28fs NM_001193268.1 NP_001180197.1 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 0 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) CCACCGCCGGCCCCCCCGGTC 0.726 3 3 --- --- --- --- LOC101926955 101926955 broad.mit.edu 37 20 25938788 25938789 + RNA INS - - A rs138143120 by1000genomes TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr20:25938788_25938789insA ENST00000449316.1 + 0 183 catctcaaaggaaaaaaaaaaG 0.505 5 6 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29588566 29588566 + RNA DEL A A - TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr20:29588566delA ENST00000432067.1 - 0 152 tttgtattttattgagaattt 0.323 4 7 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29590215 29590216 + RNA INS - - T rs142088020 TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr20:29590215_29590216insT ENST00000432067.1 - 0 152 tgtcttcttagtttggttattt 0.282 2 4 --- --- --- --- BPI 671 broad.mit.edu 37 20 36923038 36923039 + RNA INS - - ACA rs143429948 by1000genomes TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr20:36923038_36923039insACA ENST00000437016.1 - 0 183 aaacgacgacgacaacaacaac 0.480 3 3 --- --- --- --- MIR646HG 284757 broad.mit.edu 37 20 58786210 58786211 + RNA INS - - GT rs143114207 by1000genomes TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr20:58786210_58786211insGT ENST00000432910.1 + 0 332 NR_046099.1 TCCAGGGATGGGTGTGTGTGTG 0.564 OREG0026095 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11057731 11057731 + RNA DEL G G - TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr21:11057731delG ENST00000470054.1 - 0 487 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGTGTTTGGTGTTCCTATTAA 0.353 3 3 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11079710 11079711 + RNA INS - - TA rs74711197 TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr21:11079710_11079711insTA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aatttttttttaaaGCAAATTC 0.406 5 7 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11086246 11086248 + RNA DEL ATA ATA - rs112021058 TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr21:11086246_11086248delATA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) agtattccagataataaaatgaa 0.345 3 3 --- --- --- --- AP003900.6 0 broad.mit.edu 37 21 11175282 11175283 + RNA INS - - G rs56073885 TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chr21:11175282_11175283insG ENST00000603265.1 + 0 231 GATCATCTGTAGTGTACGGTGG 0.391 4 2 --- --- --- --- NXF4 55999 broad.mit.edu 37 X 101819105 101819106 + RNA DEL CT CT - rs72343127 TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883176d6-d599-403e-a05c-005087e90164 fa43af58-6064-4cf1-afcb-8476faa63b71 g.chrX:101819105_101819106delCT ENST00000360035.2 + 0 1258 NR_002216.1 endometrium(2)|lung(8) 10 TCccctcctactctctctctct 0.559 2 4 --- --- --- ---