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 KLHL4 0 broad.mit.edu 37 X 86919798 86919798 + Missense_Mutation SNP G G C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chrX:86919798G>C ENST00000373119.4 + 10 2105 c.1960G>C c.(1960-1962)Gca>Cca p.A654P KLHL4_ENST00000373114.4_Missense_Mutation_p.A654P NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 654 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 GTCAACTGTGGCACCTCTGAG 0.418000 10 7 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72244228 72244228 + Missense_Mutation SNP T T C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr15:72244228T>C ENST00000356056.5 - 15 2664 c.2192A>G c.(2191-2193)gAt>gGt p.D731G MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.D731G|MYO9A_ENST00000444904.1_Missense_Mutation_p.D712G|MYO9A_ENST00000566885.1_Missense_Mutation_p.D326G|MYO9A_ENST00000564571.1_Missense_Mutation_p.D731G NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 731 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TGGCGCTGTATCATCATGTCC 0.378000 20 37 0 0 1 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30688488 30688488 + Missense_Mutation SNP T T C rs61730760 byFrequency TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr22:30688488T>C ENST00000215790.7 - 9 1567 c.1403A>G c.(1402-1404)cAt>cGt p.H468R TBC1D10A_ENST00000403362.1_Missense_Mutation_p.H380R|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.H475R NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 468 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CGGGGGCACATGCTGTGGGGG 0.637000 10 139 0 0 1 0 0 STAG1 10274 broad.mit.edu 37 3 136221497 136221497 + Missense_Mutation SNP C C G TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr3:136221497C>G ENST00000383202.2 - 8 1057 c.801G>C c.(799-801)ttG>ttC p.L267F STAG1_ENST00000434713.2_Missense_Mutation_p.L41F|STAG1_ENST00000236698.5_Missense_Mutation_p.L267F NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 267 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 GTAGTAACTCCAACCTTTCAT 0.348000 9 49 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180885841 180885841 + Missense_Mutation SNP C C T TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr1:180885841C>T ENST00000367588.4 + 2 657 c.602C>T c.(601-603)cCg>cTg p.P201L NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 201 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GACAGAGGTCCGCTGCTGGGG 0.612000 6 105 0 0 1 0 0 TATDN3 128387 broad.mit.edu 37 1 212985626 212985626 + Missense_Mutation SNP A A G TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr1:212985626A>G ENST00000366974.4 + 9 731 c.637A>G c.(637-639)Ata>Gta p.I213V TATDN3_ENST00000526641.1_Missense_Mutation_p.I192V|TATDN3_ENST00000531963.1_Missense_Mutation_p.I220V|TATDN3_ENST00000526997.1_Missense_Mutation_p.Y174C|TATDN3_ENST00000532324.1_Missense_Mutation_p.I220V|TATDN3_ENST00000366973.4_Missense_Mutation_p.I212V|TATDN3_ENST00000525569.1_3'UTR NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1 NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1 Q17R31 TATD3_HUMAN TatD DNase domain containing 3 213 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding endometrium(1)|large_intestine(2)|lung(6) 9 OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104) TTTAACTTCTATATGCTTAGA 0.294000 11 21 0 0 1 0 0 PSG1 0 broad.mit.edu 37 19 43372351 43372351 + Missense_Mutation SNP C C T rs150536125 TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr19:43372351C>T ENST00000244296.2 - 5 1282 c.1145G>A c.(1144-1146)cGc>cAc p.R382H PSG1_ENST00000595356.1_Missense_Mutation_p.R382H|PSG1_ENST00000436291.2_Missense_Mutation_p.R382H|PSG1_ENST00000595124.1_Missense_Mutation_p.R289H|PSG1_ENST00000403380.3_Missense_Mutation_p.R289H|PSG1_ENST00000312439.6_Missense_Mutation_p.R382H NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) AGTAATATGGCGGATAAAGAG 0.463000 64 103 0 0 1 0 0 C1orf87 127795 broad.mit.edu 37 1 60456420 60456420 + Missense_Mutation SNP G G C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr1:60456420G>C ENST00000371201.3 - 12 1673 c.1566C>G c.(1564-1566)gaC>gaG p.D522E C1orf87_ENST00000395552.1_Missense_Mutation_p.D156E|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.D293E NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 522 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GCAAGGCCTGGTCGATTTTCT 0.488000 50 158 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90052835 90052835 + Missense_Mutation SNP C C T TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr5:90052835C>T ENST00000405460.2 + 57 11893 c.11797C>T c.(11797-11799)Ccc>Tcc p.P3933S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3933 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGTGCCTCCACCCTTGAACGT 0.443000 6 35 0 0 1 0 0 ZWINT 0 broad.mit.edu 37 10 58118485 58118485 + Splice_Site SNP C C A TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr10:58118485C>A ENST00000373944.3 - 7 662 c.623_splice c.e7-1 p.R208_splice ZWINT_ENST00000460654.1_Intron|ZWINT_ENST00000318387.2_Splice_Site_p.R88_splice|ZWINT_ENST00000361148.6_Intron|ZWINT_ENST00000395405.1_Splice_Site_p.R208_splice O95229 ZWINT_HUMAN ZW10 interacting kinetochore protein 208 cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1) 20 AGGTCTGATACCTACAAAGAG 0.517000 15 25 2.61681e-11 2.84436e-11 1 1 0 UNC13D 201294 broad.mit.edu 37 17 73836336 73836336 + Silent SNP G G A TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr17:73836336G>A ENST00000207549.4 - 10 1207 c.828C>T c.(826-828)tgC>tgT p.C276C UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Silent_p.C276C NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 276 Interaction with RAB27A. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) ACTGGAGGTGGCACTGGCCTC 0.672000 Familial Hemophagocytic Lymphohistiocytosis 11 35 0 0 1 0 0 SMOX 54498 broad.mit.edu 37 20 4155731 4155731 + Missense_Mutation SNP G G T TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr20:4155731G>T ENST00000305958.4 + 2 254 c.29G>T c.(28-30)aGt>aTt p.S10I SMOX_ENST00000278795.3_Missense_Mutation_p.S10I|SMOX_ENST00000339123.6_Missense_Mutation_p.S10I|SMOX_ENST00000484515.1_3'UTR|SMOX_ENST00000379460.2_Missense_Mutation_p.S10I|SMOX_ENST00000346595.2_Missense_Mutation_p.S10I NM_175839.1 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase 10 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) AGTGGTGACAGTGCGGATGAC 0.607000 38 134 4.16155e-14 4.62394e-14 1 1 0 ETAA1 54465 broad.mit.edu 37 2 67632038 67632038 + Missense_Mutation SNP A A C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr2:67632038A>C ENST00000272342.5 + 5 2354 c.2224A>C c.(2224-2226)Atc>Ctc p.I742L ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 742 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 GTATTCTAAGATCTCAAACTG 0.348000 4 32 0 0 1 0 0 C10orf118 55088 broad.mit.edu 37 10 115917401 115917401 + Missense_Mutation SNP A A G TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr10:115917401A>G ENST00000369287.3 - 3 937 c.671T>C c.(670-672)gTa>gCa p.V224A NM_018017.2 NP_060487.2 Q7Z3E2 CJ118_HUMAN chromosome 10 open reading frame 118 224 NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2) 24 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) ACAAATGTCTACGAAGAGCTC 0.284000 7 10 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3778981 3778981 + Missense_Mutation SNP G G C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr16:3778981G>C ENST00000262367.5 - 31 6876 c.6067C>G c.(6067-6069)Cag>Gag p.Q2023E CREBBP_ENST00000382070.3_Missense_Mutation_p.Q1985E NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 2023 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AGGGGCGCCTGCTGCCACTGC 0.721000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 5 5 0 0 1 0 0 PDPR 55066 broad.mit.edu 37 16 70162938 70162938 + Missense_Mutation SNP C C A TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr16:70162938C>A ENST00000288050.4 + 6 1477 c.520C>A c.(520-522)Ctg>Atg p.L174M PDPR_ENST00000398122.3_Missense_Mutation_p.L74M|PDPR_ENST00000568530.1_Missense_Mutation_p.L174M NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 174 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) CGTGCACGACCTGGTGGGGGC 0.552000 37 241 3.09479e-21 3.5168e-21 1 1 0 PLA2G4F 255189 broad.mit.edu 37 15 42439840 42439840 + Missense_Mutation SNP C C T TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr15:42439840C>T ENST00000397272.3 - 12 1277 c.1186G>A c.(1186-1188)Gtc>Atc p.V396I PLA2G4F_ENST00000382396.4_Missense_Mutation_p.V394I NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 394 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GACCCAGAGACCCCACTCAGG 0.602000 8 188 0 0 1 0 0 SPAM1 0 broad.mit.edu 37 7 123594258 123594258 + Missense_Mutation SNP C C A TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr7:123594258C>A ENST00000340011.5 + 3 991 c.634C>A c.(634-636)Cca>Aca p.P212T SPAM1_ENST00000223028.7_Missense_Mutation_p.P212T|SPAM1_ENST00000402183.2_Missense_Mutation_p.P212T|SPAM1_ENST00000439500.1_Missense_Mutation_p.P212T|SPAM1_ENST00000460182.1_Missense_Mutation_p.P212T NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 212 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) ATTACTTCGGCCAAATCACTT 0.378000 4 26 0.150653 0.156931 1 1 0 PCMTD2 55251 broad.mit.edu 37 20 62904819 62904819 + Missense_Mutation SNP C C T TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr20:62904819C>T ENST00000308824.6 + 6 1079 c.952C>T c.(952-954)Cgg>Tgg p.R318W PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000369758.3_Missense_Mutation_p.R291W|PCMTD2_ENST00000266078.6_Missense_Mutation_p.R94W NM_018257.2 NP_060727.2 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 318 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1) 17 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GGAAGAGGAACGGAGGGAAGA 0.532000 33 54 0 0 1 0 0 AKNAD1 254268 broad.mit.edu 37 1 109377557 109377557 + Missense_Mutation SNP G G A TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr1:109377557G>A ENST00000370001.3 - 8 1926 c.1658C>T c.(1657-1659)cCg>cTg p.P553L AKNAD1_ENST00000357393.4_Missense_Mutation_p.P260L|AKNAD1_ENST00000369994.1_Missense_Mutation_p.P523L|AKNAD1_ENST00000369995.3_Missense_Mutation_p.P553L NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 553 p.P553L(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TCACGTCTGCGGGGCCAGCTC 0.657000 8 31 0 0 1 0 0 GRPR 2925 broad.mit.edu 37 X 16142274 16142274 + Silent SNP T T C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chrX:16142274T>C ENST00000380289.2 + 1 596 c.198T>C c.(196-198)tgT>tgC p.C66C NM_005314.2 NP_005305.1 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 66 cell proliferation integral to plasma membrane bombesin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3) 25 Hepatocellular(33;0.183) AGATCTTCTGTACAGTCAAGT 0.493000 OREG0019682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 57 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70462164 70462164 + Missense_Mutation SNP A A C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chrX:70462164A>C ENST00000373998.1 - 23 4319 c.3622T>G c.(3622-3624)Ttt>Gtt p.F1208V ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.F1222V|ZMYM3_ENST00000373984.3_Intron|ZMYM3_ENST00000314425.5_Missense_Mutation_p.F1220V|ZMYM3_ENST00000353904.2_Missense_Mutation_p.F1220V NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 1220 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) TGCAGCCCAAAAAACTTAGTG 0.562000 11 6 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 5 36 0 0 1 0 0 DUOX1 53905 broad.mit.edu 37 15 45433155 45433155 + Silent SNP G G A TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr15:45433155G>A ENST00000321429.4 + 14 1859 c.1452G>A c.(1450-1452)ggG>ggA p.G484G DUOX1_ENST00000389037.3_Silent_p.G484G|DUOX1_ENST00000561166.1_Silent_p.G130G NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 484 Peroxidase-like; mediates peroxidase activity. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) TGCTCCCTGGGGGACTCCTGG 0.572000 33 50 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522727 95522727 + RNA SNP C C A TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr2:95522727C>A ENST00000432432.2 - 0 300 NR_040113.1 p.R64L(2) CTGCTTGTCCCGGGCGTCCAG 0.731000 5 43 1 1 1 1 0 DENND4B 9909 broad.mit.edu 37 1 153907303 153907303 + Silent SNP C C T TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr1:153907303C>T ENST00000361217.4 - 18 3124 c.2706G>A c.(2704-2706)caG>caA p.Q902Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 902 Gln-rich. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgctgctgttgctgct 0.642000 4 72 0 0 1 0 0 IFIT2 3433 broad.mit.edu 37 10 91066539 91066539 + Missense_Mutation SNP T T A TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr10:91066539T>A ENST00000371826.3 + 2 995 c.826T>A c.(826-828)Tac>Aac p.Y276N LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron NM_001547.4 NP_001538.4 P09913 IFIT2_HUMAN interferon-induced protein with tetratricopeptide repeats 2 276 negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 12 Colorectal(252;0.0161) GGCTTTAGAATACATACCAAA 0.418000 12 45 0 0 1 0 0 C11orf57 55216 broad.mit.edu 37 11 111948994 111948994 + Missense_Mutation SNP A A G TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr11:111948994A>G ENST00000532163.1 + 3 804 c.38A>G c.(37-39)gAt>gGt p.D13G C11orf57_ENST00000530104.1_Missense_Mutation_p.D42G|C11orf57_ENST00000420986.2_Missense_Mutation_p.D42G|C11orf57_ENST00000280352.9_Missense_Mutation_p.D42G|C11orf57_ENST00000393047.3_Missense_Mutation_p.D42G Q6ZUT1 CK057_HUMAN chromosome 11 open reading frame 57 42 autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521) CAGATGGAAGATGCTTACCGG 0.338000 6 16 0 0 1 0 0 PCDHB1 0 broad.mit.edu 37 5 140432441 140432441 + Silent SNP A A C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr5:140432441A>C ENST00000306549.3 + 1 1463 c.1386A>C c.(1384-1386)cgA>cgC p.R462R NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 462 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGACTGTTCGAGAAAACAACA 0.418000 17 31 0 0 1 0 0 PSMC6 5706 broad.mit.edu 37 14 53173992 53173992 + Missense_Mutation SNP C C T TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr14:53173992C>T ENST00000445930.2 + 1 103 c.97C>T c.(97-99)Cac>Tac p.H33Y PSMC6_ENST00000606149.1_Missense_Mutation_p.H19Y P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 19 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 19 Breast(41;0.176) GTTGCTTGAACACAAGGAGAT 0.532000 16 29 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 83016314 83016314 + Missense_Mutation SNP C C G TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr7:83016314C>G ENST00000307792.3 - 15 2187 c.1720G>C c.(1720-1722)Gga>Cga p.G574R SEMA3E_ENST00000427262.1_Missense_Mutation_p.G514R NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 574 axon guidance extracellular space|membrane receptor activity p.G574R(1) breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) AACTGTTGTCCAAAGCACTGC 0.358000 7 9 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55542611 55542611 + Missense_Mutation SNP C C G TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr8:55542611C>G ENST00000220676.1 + 4 6317 c.6169C>G c.(6169-6171)Cag>Gag p.Q2057E NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 2057 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCTCAGCGGTCAGACAAATGA 0.348000 10 34 0 0 1 0 0 CXADRP3 0 broad.mit.edu 37 18 14478680 14478680 + RNA SNP C C G TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr18:14478680C>G ENST00000581457.1 - 0 1228 NR_024076.1 CAGATATAAACAGATGAAGTC 0.413000 8 10 0 0 1 0 0 ZBP1 81030 broad.mit.edu 37 20 56188195 56188195 + Missense_Mutation SNP C C T rs78386672 by1000genomes TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr20:56188195C>T ENST00000541799.1 - 5 792 c.694G>A c.(694-696)Gga>Aga p.G232R ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000340462.4_Intron|ZBP1_ENST00000343535.4_Intron|ZBP1_ENST00000371173.3_Intron NM_001160419.2 NP_001153891.1 Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 361 cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) AGGTCCCCTCCCTGGGCTCTC 0.592000 6 20 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11687706 11687706 + Silent SNP C C T TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr17:11687706C>T ENST00000262442.3 + 41 7979 c.7911C>T c.(7909-7911)ctC>ctT p.L2637L DNAH9_ENST00000454412.2_Silent_p.L2637L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2637 AAA 3 (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 p.L2637L(1) 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) ATCTGAAGCTCGGAAACTTCC 0.557000 7 140 0 0 1 0 0 LRRC24 441381 broad.mit.edu 37 8 145747927 145747927 + Missense_Mutation SNP C C A TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr8:145747927C>A ENST00000529415.2 - 5 1591 c.1474G>T c.(1474-1476)Ggc>Tgc p.G492C LRRC24_ENST00000533758.1_Missense_Mutation_p.G489C|LRRC14_ENST00000292524.1_3'UTR Q50LG9 LRC24_HUMAN leucine rich repeat containing 24 492 integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TGTTCCGGGCCGCAGTCAGCG 0.751000 2 2 1 1 1 1 0 PHIP 55023 broad.mit.edu 37 6 79713461 79713461 + Missense_Mutation SNP T T C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr6:79713461T>C ENST00000275034.4 - 16 1806 c.1639A>G c.(1639-1641)Agc>Ggc p.S547G NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 547 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TCATATTTGCTACTGGACCCA 0.383000 6 14 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38647629 38647629 + Missense_Mutation SNP G G T TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr3:38647629G>T ENST00000413689.1 - 10 1344 c.1151C>A c.(1150-1152)tCc>tAc p.S384Y SCN5A_ENST00000423572.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000414099.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000455624.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000451551.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000333535.4_Missense_Mutation_p.S384Y|SCN5A_ENST00000450102.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000449557.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000443581.1_Missense_Mutation_p.S384Y|SCN5A_ENST00000425664.1_Missense_Mutation_p.S384Y NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 384 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CTTCCCTGCGGACCTGAGGGT 0.572000 7 33 1.12685e-05 1.19878e-05 1 1 0 RP11-182I10.3 0 broad.mit.edu 37 1 65451793 65451793 + RNA DEL T T - rs113756498 TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr1:65451793delT ENST00000447748.1 - 0 1775 AATCTAATTGttttttttttt 0.493 5 9 --- --- --- --- FNBP1L 54874 broad.mit.edu 37 1 94000419 94000419 + Frame_Shift_Del DEL T T - TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr1:94000419delT ENST00000260506.8 + 9 1095 c.944delT c.(943-945)gafs p.V315fs FNBP1L_ENST00000271234.7_Frame_Shift_Del_p.V315fs|FNBP1L_ENST00000604705.1_Frame_Shift_Del_p.V315fs|FNBP1L_ENST00000370256.4_Frame_Shift_Del_p.V315fs|FNBP1L_ENST00000370253.2_Frame_Shift_Del_p.V315fs NM_001024948.2|NM_017737.4 NP_001020119.1|NP_060207.2 Q5T0N5 FBP1L_HUMAN formin binding protein 1-like 315 Induction of membrane tubulation (By similarity).|Interaction with CDC42. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane lipid binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1) 11 all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155) all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111) AAAACCACAGTAGGAAAGGCC 0.388 2 4 --- --- --- --- RP11-640M9.2 0 broad.mit.edu 37 1 144598817 144598818 + RNA DEL AG AG - TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr1:144598817_144598818delAG ENST00000419820.1 + 0 708 CGATGGAGTCAGAGAGTCCTTT 0.500 4 5 --- --- --- --- UBQLN4 56893 broad.mit.edu 37 1 156011291 156011292 + Frame_Shift_Ins INS - - A TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr1:156011291_156011292insA ENST00000368309.3 - 10 1729_1730 c.1637_1638insT c.(1636-1638)gagfs p.E546fs UBQLN4_ENST00000368307.1_Frame_Shift_Ins_p.*V198fs NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 546 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) AGTTTCCACTTCCAGCCAAAAG 0.569 12 29 --- --- --- --- SLC4A3 6508 broad.mit.edu 37 2 220498620 220498621 + Frame_Shift_Del DEL GG GG - TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr2:220498620_220498621delGG ENST00000358055.3 + 11 1992_1993 c.1480_1481delGG c.(1480-1482)gfs p.G495fs SLC4A3_ENST00000273063.6_Frame_Shift_Del_p.G522fs|SLC4A3_ENST00000373762.3_Frame_Shift_Del_p.G522fs|SLC4A3_ENST00000317151.3_Frame_Shift_Del_p.G495fs|SLC4A3_ENST00000373760.2_Frame_Shift_Del_p.G495fs P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 495 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCACATGCCTGGGGGAGATGGT 0.668 2 4 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89711886 89711887 + Frame_Shift_Ins INS - - C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr10:89711886_89711887insC ENST00000371953.3 + 6 1861_1862 c.504_505insC c.(502-507)atccagfs p.Q169fs NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 169 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)|p.I168fs*15(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GAGTAACTATTCCCAGTCAGAG 0.361 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 13 20 --- --- --- --- OASL 8638 broad.mit.edu 37 12 121476763 121476764 + Frame_Shift_Ins INS - - A TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr12:121476763_121476764insA ENST00000257570.5 - 1 281_282 c.11_12insT c.(10-12)acafs p.T4fs OASL_ENST00000339275.5_Frame_Shift_Ins_p.T4fs NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 4 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACAGTTCCTGCATCAGTGCCAT 0.589 11 28 --- --- --- ---