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 SLC30A3 7781 broad.mit.edu 37 2 27480105 27480105 + Missense_Mutation SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr2:27480105C>T ENST00000233535.4 - 5 1046 c.694G>A c.(694-696)Gtc>Atc p.V232I SLC30A3_ENST00000447008.2_Missense_Mutation_p.V227I NM_003459.4 NP_003450.2 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), member 3 232 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCGCCCGGACGCTGGTGTTC 0.647000 20 36 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6103064 6103064 + Missense_Mutation SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr12:6103064C>T ENST00000261405.5 - 37 6816 c.6562G>A c.(6562-6564)Ggg>Agg p.G2188R NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2188 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) ACGCAGACCCCGTTGGTCCGA 0.557000 16 49 0 0 1 0 0 ATP8A2 51761 broad.mit.edu 37 13 26411376 26411376 + Missense_Mutation SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr13:26411376C>T ENST00000381655.2 + 29 2972 c.2830C>T c.(2830-2832)Ccc>Tcc p.P944S ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.P879S NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 904 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.P944S(1) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GCTCAGGTTTCCCCAGCTCTA 0.493000 16 133 0 0 1 0 0 SLC22A18 5002 broad.mit.edu 37 11 2940615 2940615 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr11:2940615C>G ENST00000380574.1 + 8 1273 c.842C>G c.(841-843)tCc>tGc p.S281C SLC22A18_ENST00000312221.5_Missense_Mutation_p.S281C|SLC22A18_ENST00000441077.1_3'UTR|SLC22A18_ENST00000449793.2_Missense_Mutation_p.S183C|SLC22A18_ENST00000347936.2_Missense_Mutation_p.S281C Q96BI1 S22AI_HUMAN solute carrier family 22, member 18 281 excretion|organic cation transport apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192) TACCTCATGTCCTTCTTCGGG 0.632000 15 118 0 0 1 0 0 HTR1F 3355 broad.mit.edu 37 3 88040261 88040261 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr3:88040261G>A ENST00000319595.4 + 1 416 c.362G>A c.(361-363)cGg>cAg p.R121Q NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 121 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) GCTTTGGATCGGTATCGAGCA 0.438000 27 72 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42280888 42280888 + Missense_Mutation SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr22:42280888C>T ENST00000361204.4 + 11 2247 c.2081C>T c.(2080-2082)gCg>gTg p.A694V NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 694 cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 GTACACATGGCGTTGTGTGCC 0.547000 4 89 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152826216 152826216 + Silent SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chrX:152826216C>T ENST00000370186.1 + 17 3206 c.2880C>T c.(2878-2880)aaC>aaT p.N960N ATP2B3_ENST00000393842.1_Silent_p.N960N|ATP2B3_ENST00000370181.2_Silent_p.N960N|ATP2B3_ENST00000359149.3_Silent_p.N974N|ATP2B3_ENST00000349466.2_Silent_p.N974N|ATP2B3_ENST00000263519.4_Silent_p.N974N|ATP2B3_ENST00000460549.1_3'UTR Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 974 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCATCTTCAACACGTTCGTCA 0.557000 49 87 0 0 1 0 0 TAF1B 9014 broad.mit.edu 37 2 10008510 10008510 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr2:10008510G>A ENST00000263663.5 + 6 693 c.505G>A c.(505-507)Gac>Aac p.D169N TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR NM_005680.2 NP_005671.2 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa 169 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GTCTCAGTCTGACATCCACAC 0.438000 53 67 0 0 1 0 0 LRRC18 474354 broad.mit.edu 37 10 50122062 50122062 + Missense_Mutation SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr10:50122062G>C ENST00000374160.3 - 1 215 c.139C>G c.(139-141)Ctg>Gtg p.L47V LRRC18_ENST00000298124.3_Missense_Mutation_p.L47V|WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 47 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 CTAAGGCGCAGAATACACTTG 0.507000 28 144 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32493110 32493110 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr21:32493110G>A ENST00000286827.3 - 29 4823 c.4352C>T c.(4351-4353)gCt>gTt p.A1451V TIAM1_ENST00000541036.1_Missense_Mutation_p.A1391V NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1451 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity p.A1451G(2) autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CCTGTTTCGAGCCAGCCGCCG 0.547000 14 63 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540297 169540297 + Silent SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr3:169540297C>T ENST00000340806.6 + 1 588 c.588C>T c.(586-588)gaC>gaT p.D196D NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 196 p.D196D(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 TTGACCTGGACGAGAACAAAA 0.517000 47 114 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2159762 2159762 + Silent SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr16:2159762C>G ENST00000262304.4 - 15 5614 c.5406G>C c.(5404-5406)gtG>gtC p.V1802V PKD1_ENST00000423118.1_Silent_p.V1802V NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 1802 PKD 13. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TGAGGCCACTCACAGGCACCT 0.667000 9 20 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32635985 32635985 + Missense_Mutation SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr11:32635985C>T ENST00000335185.5 - 16 1922 c.1879G>A c.(1879-1881)Gca>Aca p.A627T NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 627 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TCCAAATCTGCTTTGGTTTGG 0.343000 4 154 0 0 1 0 0 PCBP4 57060 broad.mit.edu 37 3 51992879 51992879 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr3:51992879C>G ENST00000461554.1 - 13 1181 c.850G>C c.(850-852)Gct>Cct p.A284P PCBP4_ENST00000395014.2_Missense_Mutation_p.A305P|PCBP4_ENST00000484633.1_Missense_Mutation_p.A241P|PCBP4_ENST00000322099.7_Missense_Mutation_p.A284P|PCBP4_ENST00000471622.1_Missense_Mutation_p.A284P|PCBP4_ENST00000355852.2_Missense_Mutation_p.A284P|PCBP4_ENST00000395013.3_Missense_Mutation_p.A124P|PCBP4_ENST00000428823.2_Missense_Mutation_p.A241P NM_001174100.1 NP_001167571.1 P57723 PCBP4_HUMAN poly(rC) binding protein 4 284 KH 3. cytoplasm|ribonucleoprotein complex DNA binding|RNA binding endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1) 8 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CGCTCCCCAGCGCCCTCTGCT 0.637000 18 123 0 0 1 0 0 KRT36 8689 broad.mit.edu 37 17 39646040 39646040 + Missense_Mutation SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr17:39646040G>C ENST00000328119.6 - 1 76 c.77C>G c.(76-78)tCt>tGt p.S26C KRT36_ENST00000393986.2_Intron NM_003771.4 NP_003762.1 O76013 KRT36_HUMAN keratin 36 26 Head. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) GGACACCCGAGAGATGCCGCC 0.627000 12 85 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100334235 100334235 + RNA SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr7:100334235G>A ENST00000542585.1 + 0 384 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_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) GGGGCCCCCGGGGGGTACCCT 0.662000 71 19 0 0 1 0 0 MBOAT2 129642 broad.mit.edu 37 2 8998901 8998901 + Missense_Mutation SNP T T A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr2:8998901T>A ENST00000305997.3 - 13 1669 c.1471A>T c.(1471-1473)Aat>Tat p.N491Y NM_138799.2 NP_620154.2 Q6ZWT7 MBOA2_HUMAN membrane bound O-acyltransferase domain containing 2 491 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity MBOAT2/PRKCE(2) endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1) 15 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CCCAAAGAATTTTCTCCTTCA 0.348000 59 85 0 0 1 0 0 TBR1 10716 broad.mit.edu 37 2 162279930 162279930 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr2:162279930C>G ENST00000389554.3 + 6 1558 c.1241C>G c.(1240-1242)tCg>tGg p.S414W TBR1_ENST00000489530.1_3'UTR|TBR1_ENST00000410035.1_Missense_Mutation_p.S127W|AC009487.4_ENST00000437683.1_RNA NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 414 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 CCCAACGACTCGCCGCGCTCG 0.687000 7 68 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 3 87 0 0 1 0 0 GINS4 84296 broad.mit.edu 37 8 41397213 41397213 + Missense_Mutation SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr8:41397213C>T ENST00000523277.2 + 5 481 c.314C>T c.(313-315)cCt>cTt p.P105L RP11-360L9.4_ENST00000523081.1_RNA|GINS4_ENST00000276533.3_Missense_Mutation_p.P105L|GINS4_ENST00000518671.1_Missense_Mutation_p.P105L Q9BRT9 SLD5_HUMAN GINS complex subunit 4 (Sld5 homolog) 105 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm breast(1)|lung(2)|skin(1) 4 Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147) AAGTTTTTCCCTCATGTCCTT 0.458000 86 108 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109792762 109792762 + Silent SNP T T C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr1:109792762T>C ENST00000271332.3 + 1 122 c.61T>C c.(61-63)Ttg>Ctg p.L21L NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 21 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) gctgctgctgttgctgctgct 0.746000 3 25 0 0 1 0 0 TRIM33 51592 broad.mit.edu 37 1 114964058 114964058 + Splice_Site SNP C C A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr1:114964058C>A ENST00000358465.2 - 11 2144 c.2061_splice c.e11+1 p.Q687_splice TRIM33_ENST00000369543.2_Splice_Site_p.Q687_splice|TRIM33_ENST00000450349.2_Splice_Site_p.Q295_splice NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 687 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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) AAATACAAACCTGTATGGGTG 0.378000 T RET papillary thyroid 65 60 1.33661e-31 1.41734e-31 1 1 0 TNFSF14 0 broad.mit.edu 37 19 6664977 6664977 + Missense_Mutation SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr19:6664977C>T ENST00000326176.9 - 5 956 c.575G>A c.(574-576)cGt>cAt p.R192H TNFSF14_ENST00000599359.1_Missense_Mutation_p.R228H|TNFSF14_ENST00000245912.3_Missense_Mutation_p.R192H NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 228 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 GGTACCATCACGCAGTCGAAC 0.602000 40 125 0 0 1 0 0 CXCL1 2919 broad.mit.edu 37 4 74735501 74735501 + Silent SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr4:74735501C>G ENST00000395761.3 + 2 283 c.216C>G c.(214-216)acC>acG p.T72T CXCL1_ENST00000509101.1_3'UTR NM_001511.3 NP_001502.1 P09341 GROA_HUMAN chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) 72 actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development extracellular space|intracellular chemokine activity|enzyme activator activity|growth factor activity lung(2) 2 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GCGCCCAAACCGAAGTCATGT 0.652000 26 175 0 0 1 0 0 HTR5A 3361 broad.mit.edu 37 7 154862767 154862767 + Missense_Mutation SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr7:154862767C>T ENST00000287907.2 + 1 734 c.158C>T c.(157-159)gCg>gTg p.A53V AC093726.4_ENST00000395731.2_Missense_Mutation_p.A83T|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_Missense_Mutation_p.A83T NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 53 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CTGGTGGCGGCGACGTTCGCC 0.642000 8 80 0 0 1 0 0 TSPAN12 23554 broad.mit.edu 37 7 120478922 120478922 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr7:120478922G>A ENST00000222747.3 - 4 801 c.194C>T c.(193-195)cCg>cTg p.P65L TSPAN12_ENST00000415871.1_Missense_Mutation_p.P65L NM_012338.3 NP_036470.1 O95859 TSN12_HUMAN tetraspanin 12 65 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction p.P65Q(1) endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) AATCATGACCGGATGAACCAC 0.373000 4 324 0 0 1 0 0 LRRC36 55282 broad.mit.edu 37 16 67401214 67401214 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr16:67401214G>A ENST00000329956.6 + 8 1068 c.1049G>A c.(1048-1050)aGg>aAg p.R350K LRRC36_ENST00000290940.7_Missense_Mutation_p.R82K|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000563189.1_Missense_Mutation_p.R229K|LRRC36_ENST00000435835.3_Missense_Mutation_p.R229K NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 350 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) CTTGGTAAAAGGCCTCAGAGA 0.408000 15 356 0 0 1 0 0 PCDHB15 0 broad.mit.edu 37 5 140627084 140627084 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr5:140627084C>G ENST00000231173.3 + 1 1938 c.1938C>G c.(1936-1938)gaC>gaG p.D646E NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 646 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGTCAAGGACAATGGCGAGC 0.706000 35 116 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179453777 179453777 + Missense_Mutation SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr2:179453777C>T ENST00000589042.1 - 304 62899 c.62675G>A c.(62674-62676)gGt>gAt p.G20892D TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11827D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11952D|TTN_ENST00000342992.6_Missense_Mutation_p.G18324D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G12019D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G19251D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19251 Fibronectin type-III 51. T -> N. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCACAGCCACCATCATCTTC 0.403000 11 53 0 0 1 0 0 C17orf53 78995 broad.mit.edu 37 17 42225301 42225301 + Missense_Mutation SNP C C T rs147787171 byFrequency TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr17:42225301C>T ENST00000319977.4 + 3 367 c.130C>T c.(130-132)Cct>Tct p.P44S C17orf53_ENST00000585683.1_Missense_Mutation_p.P44S|C17orf53_ENST00000245382.6_Missense_Mutation_p.P44S NM_001171251.1|NM_024032.3 NP_001164722.1|NP_076937.2 Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 44 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) GCGCCTGAGACCTGTCTCTTC 0.567000 43 98 0 0 1 0 0 KCNN2 3781 broad.mit.edu 37 5 113698753 113698753 + Missense_Mutation SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr5:113698753G>C ENST00000512097.3 + 2 1299 c.281G>C c.(280-282)gGc>gCc p.G94A KCNN2_ENST00000264773.3_Missense_Mutation_p.G94A Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 94 Poly-Gly. integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) ggaggaggcggcggcggtggc 0.652000 7 28 0 0 1 0 0 SLC35F5 80255 broad.mit.edu 37 2 114508047 114508047 + Nonsense_Mutation SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr2:114508047C>T ENST00000245680.2 - 4 785 c.372G>A c.(370-372)tgG>tgA p.W124* SLC35F5_ENST00000409342.1_Nonsense_Mutation_p.W118* NM_025181.2 NP_079457.2 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 124 transport integral to membrane endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 ACTGTTGTCTCCATGGCTTCC 0.368000 50 67 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234869448 234869448 + Missense_Mutation SNP C C T rs143538093 TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr2:234869448C>T ENST00000324695.4 + 12 1431 c.1391C>T c.(1390-1392)aCg>aTg p.T464M TRPM8_ENST00000433712.2_Missense_Mutation_p.T152M NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 464 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GTCATGTTTACGGCTCTCATA 0.423000 4 134 0 0 1 0 0 GPRASP1 9737 broad.mit.edu 37 X 101909040 101909040 + Nonsense_Mutation SNP G G T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chrX:101909040G>T ENST00000537097.1 + 6 1012 c.199G>T c.(199-201)Gag>Tag p.E67* RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Nonsense_Mutation_p.E67*|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.E67*|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.E67* NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 67 cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CACCAAAGTTGAGACAAGTGC 0.542000 8 320 0.000157383 0.000159401 1 1 0 MED13 9969 broad.mit.edu 37 17 60140431 60140431 + Missense_Mutation SNP A A G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr17:60140431A>G ENST00000397786.2 - 2 374 c.298T>C c.(298-300)Tca>Cca p.S100P NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 100 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CTTTCACCTGATAAGTCATGG 0.383000 8 139 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56443629 56443629 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr19:56443629G>A ENST00000588751.1 - 1 73 c.49C>T c.(49-51)Ctt>Ttt p.L17F NLRP13_ENST00000342929.3_Missense_Mutation_p.L17F Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 17 DAPIN. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TAAGGCAGAAGCCCTTGGTTG 0.527000 34 74 0 0 1 0 0 UBFD1 56061 broad.mit.edu 37 16 23569512 23569512 + Missense_Mutation SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr16:23569512G>C ENST00000395878.3 + 2 648 c.267G>C c.(265-267)aaG>aaC p.K89N UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000219638.4_Missense_Mutation_p.K313N|UBFD1_ENST00000567264.1_Missense_Mutation_p.K89N|UBFD1_ENST00000567212.1_Missense_Mutation_p.K80N NM_019116.2 NP_061989.2 O14562 UBFD1_HUMAN ubiquitin family domain containing 1 89 Ubiquitin-like. endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 GBM - Glioblastoma multiforme(48;0.0331) TGGACTTGAAGATCATCTGGA 0.637000 12 71 0 0 1 0 0 ZNF687 57592 broad.mit.edu 37 1 151262420 151262420 + Silent SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr1:151262420G>C ENST00000368879.2 + 6 2999 c.2901G>C c.(2899-2901)ctG>ctC p.L967L NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 967 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCTGTGGCCTGTGTCACTCCT 0.662000 7 12 0 0 1 0 0 ZDHHC17 23390 broad.mit.edu 37 12 77242026 77242026 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr12:77242026C>G ENST00000426126.2 + 15 2170 c.1521C>G c.(1519-1521)caC>caG p.H507Q ZDHHC17_ENST00000334822.5_Missense_Mutation_p.H507Q|ZDHHC17_ENST00000550789.1_3'UTR NM_015336.2 NP_056151.2 Q8IUH5 ZDH17_HUMAN zinc finger, DHHC-type containing 17 507 lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14) 23 GGGGACTCCACTGTGAGACCA 0.428000 7 52 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135439900 135439900 + Missense_Mutation SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chrX:135439900C>T ENST00000394143.1 + 10 7256 c.6965C>T c.(6964-6966)tCc>tTc p.S2322F GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Missense_Mutation_p.S2117F|GPR112_ENST00000394141.1_Missense_Mutation_p.S2117F|GPR112_ENST00000370652.1_Missense_Mutation_p.S2322F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2322 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GCTACAATTTCCTATGTACCA 0.363000 5 397 0 0 1 0 0 GPRASP1 9737 broad.mit.edu 37 X 101909041 101909041 + Missense_Mutation SNP A A G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chrX:101909041A>G ENST00000537097.1 + 6 1013 c.200A>G c.(199-201)gAg>gGg p.E67G RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.E67G|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E67G|GPRASP1_ENST00000415986.1_Missense_Mutation_p.E67G NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 67 cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 ACCAAAGTTGAGACAAGTGCA 0.542000 8 317 0 0 1 0 0 CLEC18A 348174 broad.mit.edu 37 16 69988452 69988452 + Silent SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr16:69988452C>T ENST00000288040.6 + 3 619 c.432C>T c.(430-432)aaC>aaT p.N144N CLEC18A_ENST00000568461.1_Silent_p.N144N|CLEC18A_ENST00000449317.2_Silent_p.N144N|CLEC18A_ENST00000393701.2_Silent_p.N144N NM_001136214.1|NM_001271197.1 NP_001129686.1|NP_001258126.1 A5D8T8 CL18A_HUMAN C-type lectin domain family 18, member A 144 SCP. extracellular region sugar binding NS(1)|endometrium(2)|lung(1)|skin(1) 5 GTGCTCGCAACGCCACCTGCA 0.612000 8 37 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109792765 109792765 + Silent SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr1:109792765C>T ENST00000271332.3 + 1 125 c.64C>T c.(64-66)Ctg>Ttg p.L22L NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 22 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) gctgctgttgctgctgctgct 0.746000 3 26 0 0 1 0 0 NPEPPS 9520 broad.mit.edu 37 17 45668227 45668227 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr17:45668227G>A ENST00000322157.4 + 10 1477 c.1240G>A c.(1240-1242)Gat>Aat p.D414N NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000530173.1_Missense_Mutation_p.D410N|NPEPPS_ENST00000544660.1_Missense_Mutation_p.D334N NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 414 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 TGACGCCTTAGATAACAGCCA 0.403000 24 233 0 0 1 0 0 KRTAP10-2 386679 broad.mit.edu 37 21 45971301 45971301 + Missense_Mutation SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr21:45971301G>C ENST00000391621.1 - 1 87 c.41C>G c.(40-42)aCc>aGc p.T14S TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_5'UTR NM_198693.2 NP_941966.1 P60368 KR102_HUMAN keratin associated protein 10-2 14 keratin filament large_intestine(1)|lung(4)|skin(1) 6 CCAGGAGTTGGTGCAGGCGCT 0.667000 19 138 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31854865 31854865 + Nonsense_Mutation SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chrX:31854865G>C ENST00000357033.4 - 49 7376 c.7170C>G c.(7168-7170)taC>taG p.Y2390* DMD_ENST00000378677.2_Nonsense_Mutation_p.Y2386*|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000343523.2_5'UTR NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2390 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GTTTTTCCTTGTACAAATGCT 0.428000 84 150 0 0 1 0 0 ZNF724P 0 broad.mit.edu 37 19 23406026 23406026 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr19:23406026C>G ENST00000418100.1 - 4 1138 c.1021G>C c.(1021-1023)Gaa>Caa p.E341Q endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 CCACATTCTTCACATTTATAA 0.383000 5 29 0 0 1 0 0 ESPNL 339768 broad.mit.edu 37 2 239039021 239039021 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr2:239039021C>G ENST00000343063.3 + 9 1929 c.1666C>G c.(1666-1668)Ccc>Gcc p.P556A ESPNL_ENST00000409506.1_Missense_Mutation_p.P188A|ESPNL_ENST00000409169.1_Missense_Mutation_p.P512A|ESPNL_ENST00000477241.1_3'UTR NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 556 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) CCACTTCCTGCCCCGGGCGCC 0.701000 9 11 0 0 1 0 0 ZNF823 55552 broad.mit.edu 37 19 11833735 11833735 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr19:11833735C>G ENST00000341191.6 - 4 767 c.614G>C c.(613-615)aGt>aCt p.S205T ZNF823_ENST00000545749.1_Missense_Mutation_p.S23T NM_001080493.2 NP_001073962.1 P16415 ZN823_HUMAN zinc finger protein 823 205 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 ATGAAATAAACTGGGCCAAAC 0.418000 HNSCC(68;0.2) 34 187 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 47 72 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187539809 187539809 + Missense_Mutation SNP T T C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr4:187539809T>C ENST00000441802.2 - 10 8140 c.7931A>G c.(7930-7932)gAg>gGg p.E2644G NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2644 Cadherin 24. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTCCAAATTCTCTTTTACACT 0.423000 HNSCC(5;0.00058) 21 50 0 0 1 0 0 CXorf23 256643 broad.mit.edu 37 X 19953961 19953961 + Missense_Mutation SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chrX:19953961C>T ENST00000379687.3 - 9 1862 c.1829G>A c.(1828-1830)gGa>gAa p.G610E CXorf23_ENST00000379682.4_Missense_Mutation_p.G639E|CXorf23_ENST00000356980.3_Intron NM_198279.3 NP_938020.2 A2AJT9 CX023_HUMAN chromosome X open reading frame 23 639 mitochondrion endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11 TCGGTGGTTTCCCTCAACCTC 0.348000 71 422 0 0 1 0 0 FGD3 89846 broad.mit.edu 37 9 95797674 95797674 + Missense_Mutation SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr9:95797674G>C ENST00000375482.3 + 18 2477 c.1981G>C c.(1981-1983)Gac>Cac p.D661H FGD3_ENST00000337352.6_Missense_Mutation_p.D661H|FGD3_ENST00000416701.2_Missense_Mutation_p.D660H|FGD3_ENST00000538555.1_Missense_Mutation_p.D264H NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 661 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 GAGTGTGCCGGACCCTGAGGA 0.677000 4 11 0 0 1 0 0 SEL1L 6400 broad.mit.edu 37 14 81950595 81950595 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr14:81950595G>A ENST00000336735.4 - 19 2136 c.2020C>T c.(2020-2022)Cat>Tat p.H674Y NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 674 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) CCTTTCTCATGCATATATCCC 0.393000 6 704 0 0 1 0 0 DIAPH3 81624 broad.mit.edu 37 13 60490363 60490363 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr13:60490363G>A ENST00000400324.4 - 19 2411 c.2191C>T c.(2191-2193)Cgg>Tgg p.R731W DIAPH3_ENST00000400319.1_Missense_Mutation_p.R661W|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R685W|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R731W|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R720W|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R731W|DIAPH3_ENST00000465066.1_5'UTR NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 731 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) TATGGCACCCGAAAAGAGCTC 0.343000 14 80 0 0 1 0 0 IL4R 3566 broad.mit.edu 37 16 27374364 27374364 + Missense_Mutation SNP C C A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr16:27374364C>A ENST00000395762.2 + 11 1950 c.1691C>A c.(1690-1692)gCt>gAt p.A564D IL4R_ENST00000543915.2_Missense_Mutation_p.A564D|IL4R_ENST00000170630.2_Missense_Mutation_p.A564D|IL4R_ENST00000380922.3_Missense_Mutation_p.A549D NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 564 Poly-Ala.|Required for IL4-induced gene expression. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 CATGGGGCAGCTGCAGCCCCC 0.657000 17 51 7.07596e-05 7.21291e-05 1 1 0 CKMT2 1160 broad.mit.edu 37 5 80547053 80547053 + Silent SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr5:80547053G>A ENST00000424301.2 + 3 340 c.102G>A c.(100-102)cgG>cgA p.R34R CKMT2_ENST00000505704.1_3'UTR|CKMT2_ENST00000437669.1_Silent_p.R34R|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CKMT2_ENST00000254035.4_Silent_p.R34R|CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000500148.2_RNA NM_001825.2 NP_001816.2 P17540 KCRS_HUMAN creatine kinase, mitochondrial 2 (sarcomeric) 34 creatine metabolic process|muscle contraction mitochondrial inner membrane ATP binding|creatine kinase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1) 17 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) TGCTGAACCGGCAGAAAGTGT 0.547000 4 269 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95189844 95189844 + Missense_Mutation SNP T T C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr8:95189844T>C ENST00000027335.3 - 4 380 c.256A>G c.(256-258)Agg>Ggg p.R86G CDH17_ENST00000450165.2_Missense_Mutation_p.R86G|CDH17_ENST00000441892.2_Missense_Mutation_p.R86G NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 86 Cadherin 1. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CTTGTTTCCCTGTCCAAGGCT 0.463000 53 155 0 0 1 0 0 OR4N5 390437 broad.mit.edu 37 14 20612565 20612565 + Missense_Mutation SNP G G A rs143406902 by1000genomes TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr14:20612565G>A ENST00000333629.1 + 1 671 c.671G>A c.(670-672)cGt>cAt p.R224H NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) ATCCTCTGTCGTATAAGGGAG 0.483000 43 226 0 0 1 0 0 RFX7 64864 broad.mit.edu 37 15 56395801 56395801 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr15:56395801C>G ENST00000423270.1 - 5 468 c.469G>C c.(469-471)Gtc>Ctc p.V157L RFX7_ENST00000317318.6_Missense_Mutation_p.V157L|RFX7_ENST00000422057.1_Missense_Mutation_p.V60L|RFX7_ENST00000559447.2_Missense_Mutation_p.V60L NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 60 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 TTTGGAAAGACGTTTTTCATG 0.393000 7 15 0 0 1 0 0 MBL2 4153 broad.mit.edu 37 10 54530513 54530513 + Missense_Mutation SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr10:54530513C>T ENST00000373968.3 - 2 285 c.221G>A c.(220-222)gGa>gAa p.G74E MBL2_ENST00000493043.1_5'UTR NM_000242.2 NP_000233.1 P11226 MBL2_HUMAN mannose-binding lectin (protein C) 2, soluble 74 Collagen-like. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 CCCCAACTTTCCAGGGGGGCC 0.522000 54 145 0 0 1 0 0 CRIP2 1397 broad.mit.edu 37 14 105945517 105945517 + Missense_Mutation SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr14:105945517G>C ENST00000329146.4 + 6 1175 c.462G>C c.(460-462)gaG>gaC p.E154D CRIP2_ENST00000548989.1_3'UTR|CRIP2_ENST00000483017.3_Missense_Mutation_p.E228D NM_001312.2 NP_001303.1 P52943 CRIP2_HUMAN cysteine-rich protein 2 154 LIM zinc-binding 2. zinc ion binding lung(2) 2 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.235) TGCGCTGCGAGCGCTGCGGGA 0.751000 8 46 0 0 1 0 0 CSF2 1437 broad.mit.edu 37 5 131409573 131409573 + Silent SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr5:131409573C>T ENST00000296871.2 + 1 91 c.57C>T c.(55-57)ccC>ccT p.P19P NM_000758.3 NP_000749.2 P04141 CSF2_HUMAN colony stimulating factor 2 (granulocyte-macrophage) 19 immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein extracellular space cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity skin(1) 1 all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Sargramostim(DB00020) TCTCTGCACCCGCCCGCTCGC 0.617000 3 54 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111109707 111109707 + Missense_Mutation SNP A A G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr13:111109707A>G ENST00000360467.5 + 21 1663 c.1357A>G c.(1357-1359)Aaa>Gaa p.K453E COL4A2-AS2_ENST00000458403.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 453 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GTTTGGGCTGAAAGGAGCAAA 0.632000 11 54 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61687749 61687749 + Silent SNP G G T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr16:61687749G>T ENST00000577390.1 - 12 3117 c.2163C>A c.(2161-2163)gtC>gtA p.V721V CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 721 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.V721V(1) biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TAAATTCATCGACATCAACAC 0.443000 29 149 1.08312e-15 1.13333e-15 1 1 0 MUC16 94025 broad.mit.edu 37 19 9089401 9089401 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr19:9089401C>G ENST00000397910.4 - 1 2617 c.2414G>C c.(2413-2415)aGt>aCt p.S805T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 805 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTGAGGACACTCCCTGCTGT 0.512000 93 184 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29938151 29938151 + Missense_Mutation SNP T T C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chrX:29938151T>C ENST00000378993.1 + 8 1670 c.997T>C c.(997-999)Tcc>Ccc p.S333P IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.S333P NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 333 Ig-like C2-type 3. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 GGGAAATTACTCCTGTTATGT 0.423000 58 128 0 0 1 0 0 FOLR4 390243 broad.mit.edu 37 11 94038838 94038838 + Nonsense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr11:94038838G>A ENST00000440961.2 + 1 80 c.36G>A c.(34-36)tgG>tgA p.W12* NM_001199206.1 NP_001186135.1 A6ND01 FOLR4_HUMAN folate receptor 4, delta (putative) 12 extracellular region folic acid binding|receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 TAGAGCTGTGGACAGTCATGC 0.577000 12 161 0 0 1 0 0 PRDM8 56978 broad.mit.edu 37 4 81121392 81121392 + Missense_Mutation SNP A A G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr4:81121392A>G ENST00000339711.4 + 8 1389 c.158A>G c.(157-159)gAc>gGc p.D53G PRDM8_ENST00000415738.2_Missense_Mutation_p.D53G|PRDM8_ENST00000504452.1_Missense_Mutation_p.D53G NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 53 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 TCCCTATATGACAGCATAGCT 0.443000 48 183 0 0 1 0 0 WNT9A 7483 broad.mit.edu 37 1 228113078 228113078 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr1:228113078C>G ENST00000272164.5 - 2 248 c.238G>C c.(238-240)Gag>Cag p.E80Q WNT9A_ENST00000497852.1_5'UTR NM_003395.2 NP_003386.1 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, member 9A 80 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) ACCAGCGTCTCTGCCACGCCC 0.701000 8 24 0 0 1 0 0 MS4A12 54860 broad.mit.edu 37 11 60274258 60274258 + Missense_Mutation SNP G G A rs147008825 byFrequency TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr11:60274258G>A ENST00000016913.4 + 6 703 c.646G>A c.(646-648)Gta>Ata p.V216I MS4A12_ENST00000537076.1_Missense_Mutation_p.V170I NM_017716.2 NP_060186.2 Q9NXJ0 M4A12_HUMAN membrane-spanning 4-domains, subfamily A, member 12 216 integral to membrane receptor activity breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2) 17 GGAGTTCTTCGTAGCTTGTGC 0.423000 33 80 0 0 1 0 0 OR4B1 119765 broad.mit.edu 37 11 48238763 48238763 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr11:48238763C>G ENST00000309562.2 + 1 420 c.402C>G c.(400-402)atC>atG p.I134M NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 TGAACATTATCAGTCGTCAAC 0.463000 32 170 0 0 1 0 0 UQCR10 29796 broad.mit.edu 37 22 30163518 30163518 + Missense_Mutation SNP A A G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr22:30163518A>G ENST00000330029.6 + 1 161 c.131A>G c.(130-132)tAc>tGc p.Y44C UQCR10_ENST00000401406.3_Missense_Mutation_p.Y44C NM_001003684.1|NM_013387.3 NP_001003684.1|NP_037519.2 Q9UDW1 QCR9_HUMAN ubiquinol-cytochrome c reductase, complex III subunit X 44 mitochondrial electron transport, ubiquinol to cytochrome c mitochondrial inner membrane|respiratory chain ubiquinol-cytochrome-c reductase activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1) 5 GACGCTATCTACGACCACATC 0.607000 11 60 0 0 1 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123678974 123678974 + Missense_Mutation SNP T T C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr12:123678974T>C ENST00000606320.1 - 13 2406 c.2200A>G c.(2200-2202)Aaa>Gaa p.K734E MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.K582E|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.K582E|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.K704E Q99550 MPP9_HUMAN M-phase phosphoprotein 9 582 M phase of mitotic cell cycle centriole|Golgi membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TGAGCTTCTTTATCATCTGAG 0.308000 20 32 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72775721 72775721 + Missense_Mutation SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr18:72775721G>C ENST00000299687.5 + 8 6044 c.6044G>C c.(6043-6045)gGc>gCc p.G2015A NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 2015 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GGCAGGCCCGGCGCCAAAGAC 0.677000 6 31 0 0 1 0 0 ZNF143 7702 broad.mit.edu 37 11 9519288 9519288 + Missense_Mutation SNP A A C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr11:9519288A>C ENST00000396602.2 + 10 1027 c.908A>C c.(907-909)aAt>aCt p.N303T ZNF143_ENST00000299606.2_Missense_Mutation_p.N275T|ZNF143_ENST00000396597.3_Missense_Mutation_p.N272T|ZNF143_ENST00000396604.1_Missense_Mutation_p.N302T|ZNF143_ENST00000530463.1_Missense_Mutation_p.N302T NM_003442.5 NP_003433.3 P52747 ZN143_HUMAN zinc finger protein 143 303 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 13 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) TCGGAAGATAATTGTACTAAA 0.308000 36 81 0 0 1 0 0 CEACAM19 56971 broad.mit.edu 37 19 45176219 45176219 + Missense_Mutation SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr19:45176219C>T ENST00000358777.4 + 2 887 c.407C>T c.(406-408)aCt>aTt p.T136I CEACAM19_ENST00000480278.1_3'UTR|CEACAM19_ENST00000403660.3_Missense_Mutation_p.T136I|CTB-171A8.1_ENST00000590796.1_RNA NM_001127893.1|NM_020219.3 NP_001121365.1|NP_064604.2 Q7Z692 CEA19_HUMAN carcinoembryonic antigen-related cell adhesion molecule 19 136 integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 11 Lung NSC(12;0.00308)|all_lung(12;0.00806) Prostate(69;0.0376) AAGGCCAAGACTGAGGTCCAG 0.552000 40 32 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180047675 180047675 + Silent SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr5:180047675G>C ENST00000261937.6 - 16 2418 c.2340C>G c.(2338-2340)gtC>gtG p.V780V FLT4_ENST00000502649.1_Silent_p.V780V|FLT4_ENST00000393347.3_Silent_p.V780V NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 780 positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CGCCGGTACCGACAAGGATCA 0.592000 7 60 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43152296 43152296 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr6:43152296G>A ENST00000252050.4 + 2 332 c.248G>A c.(247-249)cGg>cAg p.R83Q CUL9_ENST00000354495.3_Missense_Mutation_p.R83Q|CUL9_ENST00000372647.2_Missense_Mutation_p.R83Q NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 83 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 TTAGGTGAGCGGGCACTATCT 0.572000 33 93 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121151849 121151849 + Missense_Mutation SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr3:121151849C>T ENST00000264233.5 - 29 7703 c.7575G>A c.(7573-7575)atG>atA p.M2525I NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 2525 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TTGGGCAGAACATCCCTTGCA 0.403000 DNA polymerases (catalytic subunits) 6 53 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238049138 238049138 + Silent SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr1:238049138G>A ENST00000366570.4 - 7 1046 c.888C>T c.(886-888)atC>atT p.I296I RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 296 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity p.I296I(1) breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CCTGGACATTGATTGGGAGAG 0.512000 14 83 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23613769 23613769 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr22:23613769C>G ENST00000305877.8 + 6 2662 c.1911C>G c.(1909-1911)aaC>aaG p.N637K BCR_ENST00000359540.3_Missense_Mutation_p.N637K NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 637 DH. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 CGACCAAGAACTCTCTGGAAA 0.532000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 13 59 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99500523 99500523 + Missense_Mutation SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr15:99500523G>C ENST00000268035.6 + 21 4567 c.3956G>C c.(3955-3957)aGa>aCa p.R1319T RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Missense_Mutation_p.R1318T NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 1319 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) CTGCCCGACAGACACTCAGGA 0.687000 6 35 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123742403 123742403 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr9:123742403G>A ENST00000223642.1 - 28 3645 c.3616C>T c.(3616-3618)Cgt>Tgt p.R1206C NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1206 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) ACAATTGAACGAAACTGTGGG 0.408000 29 77 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144990713 144990713 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr8:144990713G>A ENST00000322810.4 - 32 13856 c.13687C>T c.(13687-13689)Cgt>Tgt p.R4563C PLEC_ENST00000527096.1_Missense_Mutation_p.R4449C|PLEC_ENST00000357649.2_Missense_Mutation_p.R4430C|PLEC_ENST00000354589.3_Missense_Mutation_p.R4426C|PLEC_ENST00000356346.3_Missense_Mutation_p.R4412C|PLEC_ENST00000436759.2_Missense_Mutation_p.R4453C|PLEC_ENST00000354958.2_Missense_Mutation_p.R4404C|PLEC_ENST00000398774.2_Missense_Mutation_p.R4394C|PLEC_ENST00000345136.3_Missense_Mutation_p.R4426C NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4563 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCCACGTCACGCAGCTTCTGT 0.682000 5 225 0 0 1 0 0 LEFTY2 7044 broad.mit.edu 37 1 226127198 226127198 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr1:226127198C>G ENST00000366820.5 - 3 948 c.600G>C c.(598-600)caG>caC p.Q200H LEFTY2_ENST00000474493.1_5'UTR|LEFTY2_ENST00000420304.2_Missense_Mutation_p.Q166H NM_003240.3 NP_003231.2 O00292 LFTY2_HUMAN left-right determination factor 2 200 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(184;0.197) GCACCGACACCTGTAGCAGCA 0.716000 7 33 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55106741 55106741 + Missense_Mutation SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr19:55106741C>T ENST00000453777.1 + 5 705 c.535C>T c.(535-537)Cgg>Tgg p.R179W LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.R179W|LILRB1_ENST00000448689.1_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 179 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TGGGTGGTCCCGGGCCATCTT 0.567000 4 170 0 0 1 0 0 DCX 1641 broad.mit.edu 37 X 110644391 110644391 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chrX:110644391G>A ENST00000338081.3 - 3 946 c.775C>T c.(775-777)Cgc>Tgc p.R259C DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.R178C|DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000488120.1_Missense_Mutation_p.R178C|DCX_ENST00000356915.2_Missense_Mutation_p.R178C NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 259 R -> C (in SBHX).|R -> L (in SBHX). axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding p.R178C(1)|p.R259C(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 AGCTTGGGGCGCACAAAGTCC 0.537000 4 164 0 0 1 0 0 ADAM21P1 0 broad.mit.edu 37 14 70713352 70713352 + RNA SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr14:70713352C>T ENST00000530196.1 - 0 1166 NR_003951.1 TATGACCTAACTCATGGGCCA 0.418000 104 349 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11607666 11607666 + Silent SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr17:11607666C>T ENST00000262442.3 + 25 5366 c.5298C>T c.(5296-5298)ggC>ggT p.G1766G DNAH9_ENST00000454412.2_Silent_p.G1766G NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1766 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGCTGATTGGCCAGCTCTCCA 0.512000 6 115 0 0 1 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68682348 68682348 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr11:68682348C>G ENST00000255078.3 + 6 880 c.769C>G c.(769-771)Ctg>Gtg p.L257V IGHMBP2_ENST00000539224.1_3'UTR NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 257 Leu-rich. cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GCGCCTGGCTCTGTGTAAGCA 0.592000 33 162 0 0 1 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122334784 122334784 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr10:122334784G>A ENST00000398250.1 + 6 939 c.587G>A c.(586-588)cGc>cAc p.R196H PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.R133H|PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R186H|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R196H|PPAPDC1A_ENST00000398248.1_Intron NM_001030059.1 NP_001025230.1 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 196 Phosphatase sequence motif III. phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) GCCCTGTCCCGCATGTGCGAC 0.607000 4 90 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1269713 1269713 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr11:1269713C>G ENST00000447027.1 + 31 11670 c.11612C>G c.(11611-11613)aCc>aGc p.T3871S MUC5B_ENST00000529681.1_Missense_Mutation_p.T3868S|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3868 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTGCCGACTACCACAACCACG 0.637000 22 134 0 0 1 0 0 CTSG 1511 broad.mit.edu 37 14 25043978 25043978 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr14:25043978C>G ENST00000216336.2 - 3 278 c.242G>C c.(241-243)aGa>aCa p.R81T NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 81 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) GTTTTCCCGTCTCTGGATATT 0.527000 22 126 0 0 1 0 0 LENG8 114823 broad.mit.edu 37 19 54963363 54963363 + Silent SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr19:54963363G>A ENST00000326764.5 + 3 611 c.132G>A c.(130-132)caG>caA p.Q44Q LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 44 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) AGGCCCGTCAGGCCCTGGCCA 0.642000 6 57 0 0 1 0 0 SIAH1 6477 broad.mit.edu 37 16 48399314 48399314 + Silent SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr16:48399314C>T ENST00000356721.3 - 1 498 c.75G>A c.(73-75)agG>agA p.R25R SIAH1_ENST00000394725.2_Intron|SIAH1_ENST00000573005.1_5'UTR NM_001006610.1 NP_001006611.1 Q8IUQ4 SIAH1_HUMAN siah E3 ubiquitin protein ligase 1 0 axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis beta-catenin destruction complex|cytosol|nucleus protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1) 7 all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238) TCTTCCTTGTCCTGGCCGCTG 0.498000 5 41 0 0 1 0 0 CCZ1B 221960 broad.mit.edu 37 7 6844658 6844658 + Silent SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr7:6844658G>A ENST00000316731.8 - 12 1589 c.1017C>T c.(1015-1017)tgC>tgT p.C339C CCZ1B_ENST00000538180.1_Silent_p.C196C NM_198097.3 NP_932765.1 P86790 CCZ1L_HUMAN CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae) 339 lysosomal membrane CCAGTCTTCGGCAAAAATCCA 0.458000 4 184 0 0 1 0 0 MSH3 4437 broad.mit.edu 37 5 80064755 80064755 + Missense_Mutation SNP A A G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr5:80064755A>G ENST00000265081.6 + 15 2266 c.2186A>G c.(2185-2187)cAt>cGt p.H729R NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 729 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) ATCCGAATGCATTTGCAAGAA 0.328000 Mismatch excision repair (MMR) 16 116 0 0 1 0 0 S1PR4 8698 broad.mit.edu 37 19 3179151 3179151 + Missense_Mutation SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr19:3179151C>T ENST00000246115.3 + 1 416 c.361C>T c.(361-363)Cgg>Tgg p.R121W S1PR4_ENST00000591346.1_Intron NM_003775.3 NP_003766.1 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 121 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 GTGGTTCCTACGGGAGGGCCT 0.701000 24 95 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138603381 138603381 + Missense_Mutation SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr7:138603381G>C ENST00000440172.1 - 2 1039 c.991C>G c.(991-993)Caa>Gaa p.Q331E KIAA1549_ENST00000242365.4_Missense_Mutation_p.Q281E|KIAA1549_ENST00000422774.1_Missense_Mutation_p.Q331E NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 331 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TCTAGGCTTTGACTCAACACA 0.517000 O BRAF pilocytic astrocytoma 32 163 0 0 1 0 0 ADRA2C 152 broad.mit.edu 37 4 3769015 3769015 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr4:3769015C>G ENST00000330055.5 + 1 891 c.682C>G c.(682-684)Ctg>Gtg p.L228V ADRA2C_ENST00000509482.1_Missense_Mutation_p.L228V NM_000683.3 NP_000674.2 P18825 ADA2C_HUMAN adrenoceptor alpha 2C 228 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion endosome|integral to plasma membrane alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) CATCATGGGCCTGGTCTACGC 0.697000 3 21 0 0 1 0 0 FOXD1 2297 broad.mit.edu 37 5 72743502 72743502 + Missense_Mutation SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr5:72743502G>C ENST00000499003.3 - 1 850 c.686C>G c.(685-687)cCc>cGc p.P229R NM_004472.2 NP_004463.1 Q16676 FOXD1_HUMAN forkhead box D1 229 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|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 endometrium(1)|kidney(1)|lung(2) 4 Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151) OV - Ovarian serous cystadenocarcinoma(47;1.07e-54) cgcggcgttgggtgggagcag 0.761000 6 24 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102956584 102956584 + Missense_Mutation SNP C C T rs141061248 TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr2:102956584C>T ENST00000311734.2 + 4 638 c.299C>T c.(298-300)gCg>gTg p.A100V IL1RL1_ENST00000393393.3_Missense_Mutation_p.A100V|IL1RL1_ENST00000409584.1_Missense_Mutation_p.A100V|IL1RL1_ENST00000233954.1_Missense_Mutation_p.A100V|IL1RL1_ENST00000404917.2_5'UTR|IL1RL1_ENST00000473175.1_3'UTR Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 100 Ig-like C2-type 1. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 ACTGGATATGCGAATGTCACC 0.299000 23 51 0 0 1 0 0 SMARCA1 6594 broad.mit.edu 37 X 128631957 128631957 + Missense_Mutation SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chrX:128631957G>C ENST00000371122.4 - 11 1498 c.1369C>G c.(1369-1371)Cga>Gga p.R457G SMARCA1_ENST00000371123.1_Missense_Mutation_p.R457G|SMARCA1_ENST00000371121.3_Missense_Mutation_p.R457G NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 457 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 CAACACTTTCGAAGCTGCATC 0.373000 23 149 0 0 1 0 0 SAMD12 401474 broad.mit.edu 37 8 119452089 119452089 + Missense_Mutation SNP T T G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr8:119452089T>G ENST00000409003.4 - 3 432 c.304A>C c.(304-306)Aaa>Caa p.K102Q SAMD12_ENST00000314727.4_Missense_Mutation_p.K102Q NM_001101676.1 NP_001095146.1 Q8N8I0 SAM12_HUMAN sterile alpha motif domain containing 12 102 SAM. endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2) 9 all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249) STAD - Stomach adenocarcinoma(47;0.00391) TCATGCTGTTTGAATGACTCA 0.433000 92 146 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109777629 109777629 + Silent SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr13:109777629G>C ENST00000356711.2 + 30 3765 c.3639G>C c.(3637-3639)cgG>cgC p.R1213R MYO16_ENST00000357550.2_Silent_p.R1213R|MYO16_ENST00000457511.2_Silent_p.R725R NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1213 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) AAAATGACCGGCTCCGTAGTG 0.473000 33 35 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10480690 10480690 + Missense_Mutation SNP C C A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr8:10480690C>A ENST00000382483.3 - 2 245 c.22G>T c.(22-24)Gcc>Tcc p.A8S RP1L1_ENST00000329335.3_5'UTR NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 8 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GGGGCCTGGGCATTCCTGGGG 0.632000 41 62 4.44401e-20 4.68103e-20 1 1 0 RBBP8NL 140893 broad.mit.edu 37 20 60992299 60992299 + Missense_Mutation SNP G G T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr20:60992299G>T ENST00000252998.1 - 4 337 c.181C>A c.(181-183)Ctg>Atg p.L61M NM_080833.2 NP_543023.2 RBBP8 N-terminal like AGCACCCGCAGGTTCTCCTTC 0.617000 5 12 0.000602214 0.00060605 1 1 0 MTHFD2P1 0 broad.mit.edu 37 3 95374237 95374237 + RNA SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr3:95374237G>A ENST00000494840.1 - 0 1624 NR_077228.1 ACATTACAATGGGCATTCCAA 0.458000 30 66 0 0 1 0 0 TDGF1 6997 broad.mit.edu 37 3 46620761 46620761 + Missense_Mutation SNP A A G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr3:46620761A>G ENST00000296145.5 + 3 861 c.128A>G c.(127-129)tAc>tGc p.Y43C LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.Y27C NM_003212.3 NP_003203.1 P13385 TDGF1_HUMAN teratocarcinoma-derived growth factor 1 43 Y -> D (in dbSNP:rs2293025). activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation anchored to membrane|cell surface|extrinsic to plasma membrane growth factor activity cervix(2)|endometrium(1)|kidney(1)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) TCTCGGGGATACCTGGCCTTC 0.517000 36 60 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144997377 144997377 + Silent SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr8:144997377C>G ENST00000322810.4 - 31 7300 c.7131G>C c.(7129-7131)ctG>ctC p.L2377L PLEC_ENST00000527096.1_Silent_p.L2263L|PLEC_ENST00000357649.2_Silent_p.L2244L|PLEC_ENST00000354589.3_Silent_p.L2240L|PLEC_ENST00000356346.3_Silent_p.L2226L|PLEC_ENST00000436759.2_Silent_p.L2267L|PLEC_ENST00000354958.2_Silent_p.L2218L|PLEC_ENST00000398774.2_Silent_p.L2208L|PLEC_ENST00000345136.3_Silent_p.L2240L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2377 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TGAGCTTGCTCAGCTCCTCCA 0.637000 8 70 0 0 1 0 0 CCND1 595 broad.mit.edu 37 11 69458623 69458623 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr11:69458623C>G ENST00000227507.2 + 3 665 c.438C>G c.(436-438)aaC>aaG p.N146K CCND1_ENST00000536559.1_Intron NM_053056.2 NP_444284.1 P24385 CCND1_HUMAN cyclin D1 146 Cyclin N-terminal. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1) 23 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) TCCTGGTGAACAAGCTCAAGT 0.622000 T """IGH@, FSTL3""" """CLL, B-ALL, breast""" Multiple Myeloma(6;0.086) 16 77 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137708918 137708918 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr9:137708918G>A ENST00000371817.3 + 53 4583 c.4169G>A c.(4168-4170)gGa>gAa p.G1390E NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1390 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGGCCTCCAGGAAAAAGGGTA 0.572000 12 45 0 0 1 0 0 UNC13B 10497 broad.mit.edu 37 9 35389883 35389883 + Missense_Mutation SNP G G A rs147799499 TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr9:35389883G>A ENST00000378495.3 + 24 3110 c.2888G>A c.(2887-2889)cGg>cAg p.R963Q UNC13B_ENST00000396787.1_Missense_Mutation_p.R975Q|UNC13B_ENST00000378496.4_Missense_Mutation_p.R963Q NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 963 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity p.R963Q(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) CCCAGCATTCGGAACCTGGAT 0.493000 48 53 0 0 1 0 0 GDF7 151449 broad.mit.edu 37 2 20870684 20870684 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr2:20870684C>G ENST00000272224.3 + 2 1428 c.852C>G c.(850-852)atC>atG p.I284M NM_182828.2 NP_878248.2 Q7Z4P5 GDF7_HUMAN growth differentiation factor 7 284 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCGGGAGATCCGCGCCCAGG 0.731000 6 9 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98924616 98924616 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr10:98924616G>A ENST00000266058.4 - 2 474 c.229C>T c.(229-231)Cat>Tat p.H77Y ARHGAP19-SLIT1_ENST00000453547.2_Silent_p.S502S|SLIT1_ENST00000371041.3_Missense_Mutation_p.H77Y|SLIT1_ENST00000371070.4_Missense_Mutation_p.H77Y|SLIT1_ENST00000456008.2_5'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 77 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) TCATTCTTATGGATCCGAGTG 0.617000 42 80 0 0 1 0 0 VCX2 51480 broad.mit.edu 37 X 8138193 8138193 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chrX:8138193C>G ENST00000317103.4 - 3 606 c.300G>C c.(298-300)caG>caC p.Q100H NM_016378.2 NP_057462.2 Q9H322 VCX2_HUMAN variable charge, X-linked 2 100 endometrium(1) 1 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) GGGGGTCGTGCTGGGTCCCCT 0.677000 36 156 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998066 27998066 + Silent SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chrX:27998066G>C ENST00000441525.1 - 1 1500 c.1386C>G c.(1384-1386)gtC>gtG p.V462V NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 462 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 CCCAGAAGAAGACGTGCCCAC 0.468000 26 66 0 0 1 0 0 ZSCAN16 80345 broad.mit.edu 37 6 28093396 28093396 + Missense_Mutation SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr6:28093396C>T ENST00000340487.4 + 2 324 c.175C>T c.(175-177)Ctt>Ttt p.L59F RP1-265C24.9_ENST00000600652.1_RNA|RP1-265C24.9_ENST00000602810.1_RNA NM_025231.1 NP_079507.1 Q9H4T2 ZSC16_HUMAN zinc finger and SCAN domain containing 16 59 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 CCGTGAAGCTCTTACCCAGCT 0.537000 61 244 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128482936 128482936 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr7:128482936C>G ENST00000325888.8 + 16 2739 c.2478C>G c.(2476-2478)aaC>aaG p.N826K FLNC_ENST00000346177.6_Missense_Mutation_p.N826K NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 826 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 AGAATGACAACGACACCTTCA 0.592000 21 70 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57188424 57188424 + Missense_Mutation SNP A A G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr7:57188424A>G ENST00000331162.4 - 5 968 c.698T>C c.(697-699)aTa>aCa p.I233T NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) AGTATGAATTATTTTATGTGT 0.383000 33 32 0 0 1 0 0 PRR23B 389151 broad.mit.edu 37 3 138738956 138738956 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr3:138738956C>G ENST00000329447.5 - 1 812 c.548G>C c.(547-549)aGa>aCa p.R183T MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 183 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GAACATACTTCTAGAGGAGGG 0.647000 11 79 0 0 1 0 0 AIFM1 9131 broad.mit.edu 37 X 129290463 129290463 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chrX:129290463C>G ENST00000287295.3 - 2 451 c.221G>C c.(220-222)gGc>gCc p.G74A AIFM1_ENST00000535724.1_Intron|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Intron NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 74 activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 TGTTGATAAGCCCACAATAAG 0.443000 42 335 0 0 1 0 0 XKR4 114786 broad.mit.edu 37 8 56015369 56015369 + Nonsense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr8:56015369C>G ENST00000327381.5 + 1 421 c.321C>G c.(319-321)taC>taG p.Y107* NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 107 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) AGCGGCGCTACTCACTGTGGG 0.771000 15 100 0 0 1 0 0 RNF103 7844 broad.mit.edu 37 2 86831619 86831619 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr2:86831619G>A ENST00000237455.4 - 4 2373 c.1405C>T c.(1405-1407)Ccg>Tcg p.P469S RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 469 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 GAAGCAATCGGGTGGAAGAGG 0.458000 23 105 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144997340 144997340 + Missense_Mutation SNP C C G rs62641756 by1000genomes TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr8:144997340C>G ENST00000322810.4 - 31 7337 c.7168G>C c.(7168-7170)Gca>Cca p.A2390P PLEC_ENST00000527096.1_Missense_Mutation_p.A2276P|PLEC_ENST00000357649.2_Missense_Mutation_p.A2257P|PLEC_ENST00000354589.3_Missense_Mutation_p.A2253P|PLEC_ENST00000356346.3_Missense_Mutation_p.A2239P|PLEC_ENST00000436759.2_Missense_Mutation_p.A2280P|PLEC_ENST00000354958.2_Missense_Mutation_p.A2231P|PLEC_ENST00000398774.2_Missense_Mutation_p.A2221P|PLEC_ENST00000345136.3_Missense_Mutation_p.A2253P NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2390 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AAGATGAGTGCGCGGTTCTCA 0.642000 9 47 0 0 1 0 0 NME8 51314 broad.mit.edu 37 7 37903019 37903019 + Missense_Mutation SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr7:37903019G>C ENST00000199447.4 + 8 781 c.409G>C c.(409-411)Gac>Cac p.D137H NME8_ENST00000440017.1_Missense_Mutation_p.D137H|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 137 cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity TCCATTAGTAGACTCAGATTC 0.333000 21 197 0 0 1 0 0 HOXA11 3207 broad.mit.edu 37 7 27224559 27224559 + Missense_Mutation SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr7:27224559G>C ENST00000006015.3 - 1 276 c.205C>G c.(205-207)Ccc>Gcc p.P69A HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520360.1_RNA NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 69 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 TTAGTGGCGGGCTCAATGGCG 0.657000 T NUP98 CML OREG0003747 type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 97 0 0 1 0 0 SERPINA1 5265 broad.mit.edu 37 14 94849110 94849110 + Silent SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr14:94849110C>T ENST00000448921.1 - 4 1037 c.465G>A c.(463-465)ttG>ttA p.L155L SERPINA1_ENST00000437397.1_Silent_p.L155L|SERPINA1_ENST00000440909.1_Silent_p.L155L|SERPINA1_ENST00000355814.4_Silent_p.L155L|SERPINA1_ENST00000393088.4_Silent_p.L155L|SERPINA1_ENST00000402629.1_Silent_p.L155L|SERPINA1_ENST00000449399.3_Silent_p.L155L|SERPINA1_ENST00000393087.4_Silent_p.L155L|SERPINA1_ENST00000404814.4_Silent_p.L155L NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 155 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) TAACATCCTCCAAAAACTTAT 0.522000 40 92 0 0 1 0 0 RAB35 11021 broad.mit.edu 37 12 120546229 120546229 + Missense_Mutation SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr12:120546229G>C ENST00000229340.5 - 2 283 c.95C>G c.(94-96)aCt>aGt p.T32S RAB35_ENST00000534951.1_Missense_Mutation_p.T32S NM_001167606.1|NM_006861.6 NP_001161078.1|NP_006852.1 Q15286 RAB35_HUMAN RAB35, member RAS oncogene family 32 cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.248) ACCTGAGAAAGTGTTGTCTGC 0.572000 12 48 0 0 1 0 0 MTMR3 8897 broad.mit.edu 37 22 30421720 30421720 + Missense_Mutation SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr22:30421720G>C ENST00000333027.3 + 20 3771 c.3443G>C c.(3442-3444)aGc>aCc p.S1148T MTMR3_ENST00000406629.1_Missense_Mutation_p.S1148T|MTMR3_ENST00000401950.2_Missense_Mutation_p.S1176T|MTMR3_ENST00000351488.3_Missense_Mutation_p.S1139T|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.S1040T NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 1176 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TCTTGCTATAGCAGCCTACAT 0.512000 29 125 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33955887 33955887 + Silent SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr15:33955887G>A ENST00000389232.4 + 36 5638 c.5568G>A c.(5566-5568)gcG>gcA p.A1856A RYR3_ENST00000415757.3_Silent_p.A1856A NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1856 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ACATGTCTGCGGCCCTGACTG 0.552000 13 11 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167379648 167379648 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr5:167379648C>G ENST00000519204.1 + 3 523 c.405C>G c.(403-405)caC>caG p.H135Q TENM2_ENST00000520393.1_3'UTR|TENM2_ENST00000520394.1_Missense_Mutation_p.H65Q|TENM2_ENST00000545108.1_Missense_Mutation_p.H256Q|TENM2_ENST00000403607.2_Missense_Mutation_p.H89Q|TENM2_ENST00000518659.1_Missense_Mutation_p.H256Q|CTC-353G13.1_ENST00000523050.1_RNA teneurin transmembrane protein 2 CACCCCCTCACAACCACACGC 0.597000 4 25 0 0 1 0 0 ST3GAL2 6483 broad.mit.edu 37 16 70432112 70432112 + Missense_Mutation SNP C C A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr16:70432112C>A ENST00000393640.4 - 1 2429 c.322G>T c.(322-324)Gtc>Ttc p.V108F ST3GAL2_ENST00000342907.2_Missense_Mutation_p.V108F|RP11-529K1.4_ENST00000566960.1_RNA Q16842 SIA4B_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 2 108 amino sugar metabolic process extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 11 Ovarian(137;0.0694) CACCTCTGGACGTCCGGTGGA 0.592000 6 77 2.7689e-08 2.85938e-08 1 1 0 ROBO2 6092 broad.mit.edu 37 3 77645827 77645827 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr3:77645827C>G ENST00000461745.1 + 19 3680 c.2780C>G c.(2779-2781)tCt>tGt p.S927C ROBO2_ENST00000487694.3_Missense_Mutation_p.S943C|ROBO2_ENST00000332191.8_Missense_Mutation_p.S927C NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 927 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CTTGCTGATTCTTGGCCAGCC 0.438000 30 231 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24834864 24834864 + Missense_Mutation SNP C C G TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr10:24834864C>G ENST00000376454.3 + 21 5473 c.5443C>G c.(5443-5445)Ctg>Gtg p.L1815V KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.L1221V|KIAA1217_ENST00000376452.3_Missense_Mutation_p.L1246V|KIAA1217_ENST00000376462.1_Missense_Mutation_p.L1136V|KIAA1217_ENST00000396445.1_3'UTR NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 1815 Ser-rich. embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AAGCAGTTCTCTGCCCTCTTC 0.512000 39 203 0 0 1 0 0 TIGD4 201798 broad.mit.edu 37 4 153691335 153691335 + Silent SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr4:153691335C>T ENST00000304337.2 - 2 1642 c.822G>A c.(820-822)gaG>gaA p.E274E NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 274 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) CTTGAAATTCCTCATCAAGCT 0.398000 33 197 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55027547 55027547 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr20:55027547G>A ENST00000371336.3 + 5 1516 c.1315G>A c.(1315-1317)Gtg>Atg p.V439M CASS4_ENST00000360314.3_Missense_Mutation_p.V439M|CASS4_ENST00000434344.1_Intron NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 439 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity p.V439M(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 GGACCTGGATGTGGCCAAGGA 0.567000 26 23 0 0 1 0 0 MAGEE1 57692 broad.mit.edu 37 X 75651163 75651163 + Missense_Mutation SNP G G T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chrX:75651163G>T ENST00000361470.2 + 1 3118 c.2840G>T c.(2839-2841)gGg>gTg p.G947V NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 947 Interaction with DTNA (By similarity). dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 GCTGATGTTGGGCACAGGCAA 0.522000 32 45 2.70662e-09 2.81346e-09 1 1 0 NOP58 51602 broad.mit.edu 37 2 203162609 203162610 + Frame_Shift_Del DEL AG AG - TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr2:203162609_203162610delAG ENST00000264279.5 + 12 1474_1475 c.1248_1249delAG c.(1246-1251)acaafs p.TE416fs NM_015934.3 NP_057018.1 Q9Y2X3 NOP58_HUMAN NOP58 ribonucleoprotein 416 cell growth|rRNA processing|snRNP protein import into nucleus box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex protein binding|snoRNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2) 16 TAGCAAAAACAGAAAAATATGA 0.257 10 93 --- --- --- --- ST3GAL6 10402 broad.mit.edu 37 3 98507067 98507068 + Splice_Site INS - - T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr3:98507067_98507068insT ENST00000265261.6 + 7 686 c.e7+1 ST3GAL6_ENST00000394162.1_Splice_Site|ST3GAL6_ENST00000462152.1_Splice_Site|ST3GAL6_ENST00000483910.1_Splice_Site NM_001271147.1 NP_001258076.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 TGACAAAATAGTAAGTAGGCAA 0.356 63 89 --- --- --- --- PPP2R3A 5523 broad.mit.edu 37 3 135721813 135721815 + In_Frame_Del DEL ATT ATT - TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr3:135721813_135721815delATT ENST00000264977.3 + 2 2090_2092 c.1473_1475delATT c.(1471-1476)aat>aa p.KF491del PPP2R3A_ENST00000490467.1_Intron NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 491 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AAGTTTCTAAATTTGAAGAGGGA 0.335 65 102 --- --- --- --- RP11-254I22.1 0 broad.mit.edu 37 5 95437716 95437716 + RNA DEL G G - TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr5:95437716delG ENST00000507997.1 + 0 87 CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA ggaagcctgagggggtgtgtt 0.582 2 4 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26426984 26426984 + RNA DEL T T - rs79308421 TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr6:26426984delT ENST00000466808.2 + 0 1067 GAACCTAGTCTTTTTTTTTTT 0.428 2 4 --- --- --- --- DPYS 1807 broad.mit.edu 37 8 105440214 105440214 + Frame_Shift_Del DEL T T - TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr8:105440214delT ENST00000351513.2 - 6 1218 c.1086delA c.(1084-1086)aafs p.K362fs NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 362 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCACCACGCCTTTTTCCCATA 0.478 7 362 --- --- --- --- C11orf63 79864 broad.mit.edu 37 11 122805551 122805554 + Frame_Shift_Del DEL AAAG AAAG - TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr11:122805551_122805554delAAAG ENST00000227349.2 + 5 1699_1702 c.1402_1405delAAAG c.(1402-1407)aafs p.KE468fs C11orf63_ENST00000531316.1_Frame_Shift_Del_p.KE468fs NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 468 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) GAATGTTAATAAAGAAAGAGGACA 0.377 32 159 --- --- --- --- MYO15A 51168 broad.mit.edu 37 17 18055210 18055210 + Frame_Shift_Del DEL C C - TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr17:18055210delC ENST00000205890.5 + 41 8176 c.7838delC c.(7837-7839)gcfs p.A2613fs NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2613 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CATGAGGAGGCCCTGATGATC 0.597 2 4 --- --- --- --- TANC2 26115 broad.mit.edu 37 17 61483525 61483525 + Frame_Shift_Del DEL T T - TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr17:61483525delT ENST00000424789.2 + 19 3258 c.3254delT c.(3253-3255)ctfs p.L1087fs RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Frame_Shift_Del_p.L1087fs|AC015923.1_ENST00000431604.1_RNA NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1087 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 ATTGTTGATCTTTTACTCACC 0.502 OREG0024637 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 67 --- --- --- --- RP11-1055B8.7 0 broad.mit.edu 37 17 79428112 79428116 + Frame_Shift_Del DEL GCACA GCACA - TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr17:79428112_79428116delGCACA ENST00000307745.7 + 30 6423_6427 c.6423_6427delGCACA c.(6421-6429)gtgcfs p.VHS2141fs RP11-1055B8.8_ENST00000572590.1_RNA TGTTCCCCGTGCACAGCGTGGCCAC 0.707 12 20 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42794734 42794735 + Frame_Shift_Del DEL GT GT - TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chr19:42794734_42794735delGT ENST00000572681.2 + 11 4609_4610 c.4541_4542delGT c.(4540-4542)afs p.S1514fs CIC_ENST00000575354.2_Frame_Shift_Del_p.S605fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.S605fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 605 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.V606fs*83(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) AGACCCGAAAGTGTGGGTGGCC 0.673 """Mis, F, S""" oligodendroglioma 65 55 --- --- --- --- GRIA3 2892 broad.mit.edu 37 X 122551721 122551721 + Frame_Shift_Del DEL T T - TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 675ce5ef-043a-4057-854c-dc78c82c3138 f00ed66c-116a-4665-b75d-7f5d608e7034 g.chrX:122551721delT ENST00000541091.1 + 11 1948 c.1921delT c.(1921-1923)ttfs p.F642fs GRIA3_ENST00000542149.1_Intron|GRIA3_ENST00000371251.1_Intron|GRIA3_ENST00000264357.5_Intron|GRIA3_ENST00000371256.5_Intron P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 0 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) CAACTCCAGATTTTTTTCATT 0.358 18 59 --- --- --- ---