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 LOC645752 645752 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 4 159 0 0 1 0 0 EPX 8288 broad.mit.edu 37 17 56281693 56281693 + Missense_Mutation SNP G G C TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr17:56281693G>C ENST00000225371.5 + 12 2167 c.2057G>C c.(2056-2058)aGg>aCg p.R686T NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 686 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 ACGGTTTCAAGGGACATCTTC 0.512000 4 78 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 95 0 0 1 0 0 CASP3 836 broad.mit.edu 37 4 185553476 185553476 + Missense_Mutation SNP C C T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr4:185553476C>T ENST00000308394.4 - 5 515 c.253G>A c.(253-255)Gtc>Atc p.V85I CASP3_ENST00000393588.4_Missense_Mutation_p.V85I|CASP3_ENST00000517513.1_Missense_Mutation_p.V85I|CASP3_ENST00000393585.2_Missense_Mutation_p.V85I|CASP3_ENST00000523916.1_Missense_Mutation_p.V85I NM_004346.3 NP_004337.2 P42574 CASP3_HUMAN caspase 3, apoptosis-related cysteine peptidase 85 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) TTATTCCTGACTTCATATTTC 0.338000 4 79 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296440 145296440 + Missense_Mutation SNP G G A TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr1:145296440G>A ENST00000342960.5 + 3 397 c.362G>A c.(361-363)cGc>cAc p.R121H NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 121 p.R121H(1) 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) GATGCCTCCCGCTCATTGTAT 0.562000 6 398 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 6 149 0 0 1 0 0 SDHAP3 728609 broad.mit.edu 37 5 1593264 1593264 + RNA SNP C C T rs111700178 by1000genomes TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr5:1593264C>T ENST00000436493.2 - 0 361 AGGGCACATGCCTGACCAAAG 0.557000 4 45 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53945909 53945909 + RNA SNP T T C rs28727441 by1000genomes TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr19:53945909T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACCCTGACTCTGCCTGAGGCC 0.562000 4 38 0 0 1 0 0 PCID2 55795 broad.mit.edu 37 13 113854816 113854816 + Missense_Mutation SNP G G C TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr13:113854816G>C ENST00000375457.2 - 2 641 c.45C>G c.(43-45)atC>atG p.I15M PCID2_ENST00000375479.2_Missense_Mutation_p.I17M|PCID2_ENST00000351317.3_Missense_Mutation_p.I17M|PCID2_ENST00000375477.1_Missense_Mutation_p.I17M|PCID2_ENST00000246505.5_Missense_Mutation_p.I17M|PCID2_ENST00000337344.4_Missense_Mutation_p.I17M|PCID2_ENST00000375459.1_Missense_Mutation_p.I15M NM_001258213.1 NP_001245142.1 Q5JVF3 PCID2_HUMAN PCI domain containing 2 17 negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10) 20 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) CTCTGCTGTCGATGGCTTCGT 0.418000 4 65 0 0 1 0 0 OPRM1 4988 broad.mit.edu 37 6 154414493 154414493 + Missense_Mutation SNP G G T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr6:154414493G>T ENST00000229768.5 + 4 1303 c.1253G>T c.(1252-1254)aGa>aTa p.R418I OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000419506.2_Intron|OPRM1_ENST00000360422.4_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000330432.7_Intron NM_001008505.1 NP_001008505.2 P35372 OPRM_HUMAN opioid receptor, mu 1 0 behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) CCTCTTGTCAGATATGACCTC 0.512000 5 191 1.024e-07 1.04676e-07 1 1 0 NLRP6 171389 broad.mit.edu 37 11 281682 281682 + Missense_Mutation SNP C C T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr11:281682C>T ENST00000534750.1 + 4 2153 c.1948C>T c.(1948-1950)Cgc>Tgc p.R650C NLRP6_ENST00000312165.5_Missense_Mutation_p.R650C NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 650 cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) GCAGCGAGTGCGCTTCTGCCG 0.637000 4 108 0 0 1 0 0 ZNF35 7584 broad.mit.edu 37 3 44692675 44692675 + Missense_Mutation SNP A A T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr3:44692675A>T ENST00000396056.2 + 2 351 c.116A>T c.(115-117)cAc>cTc p.H39L RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_5'UTR|ZNF35_ENST00000296092.3_Missense_Mutation_p.H39L|ZNF35_ENST00000399560.2_Missense_Mutation_p.H39L|ZNF35_ENST00000453164.1_Missense_Mutation_p.H39L NM_003420.3 NP_003411.3 P13682 ZNF35_HUMAN zinc finger protein 35 39 Globular domain. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) CAACAAGTGCACTCCGAGAAC 0.542000 8 106 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138451498 138451498 + Missense_Mutation SNP C C T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr4:138451498C>T ENST00000344876.4 - 1 2131 c.1745G>A c.(1744-1746)cGt>cAt p.R582H PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H|PCDH18_ENST00000511115.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 582 Cadherin 6. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R582H(2) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CGTATTATTACGCAATGCAGG 0.463000 6 237 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 3 3 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41069761 41069761 + Splice_Site SNP G G A TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chrX:41069761G>A ENST00000324545.7 + 33 5648 c.e33-1 USP9X_ENST00000378308.2_Splice_Site NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TCATTTCTTAGGCTTTGGGGT 0.328000 5 112 0 0 1 0 0 BRD1 23774 broad.mit.edu 37 22 50192316 50192316 + Missense_Mutation SNP C C T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr22:50192316C>T ENST00000216267.8 - 4 2161 c.1675G>A c.(1675-1677)Gcc>Acc p.A559T BRD1_ENST00000342989.5_Missense_Mutation_p.A154T|BRD1_ENST00000404034.1_Missense_Mutation_p.A559T|BRD1_ENST00000404760.1_Missense_Mutation_p.A559T|BRD1_ENST00000457780.2_Missense_Mutation_p.A559T|BRD1_ENST00000542442.1_Missense_Mutation_p.A252T NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 559 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) AGCTCCATGGCGACCTGCTCC 0.672000 8 12 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9006392 9006392 + Missense_Mutation SNP C C T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr19:9006392C>T ENST00000397910.4 - 45 39829 c.39626G>A c.(39625-39627)aGc>aAc p.S13209N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13211 SEA 8. 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 AACACTGGTGCTCTTGAACAA 0.562000 5 145 0 0 1 0 0 FGFR1 2260 broad.mit.edu 37 8 38274849 38274849 + Missense_Mutation SNP G G T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr8:38274849G>T ENST00000447712.2 - 12 2579 c.1638C>A c.(1636-1638)aaC>aaA p.N546K FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000341462.5_Missense_Mutation_p.N546K|FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000397103.1_Missense_Mutation_p.N457K|FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 546 Protein kinase. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity p.N546K(4) FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) CCCCCAGCAGGTTGATGATAT 0.542000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 51 62 2.44813e-32 2.55941e-32 1 1 0 CHD3 1107 broad.mit.edu 37 17 7803968 7803968 + Missense_Mutation SNP G G A TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr17:7803968G>A ENST00000380358.4 + 18 3075 c.3074G>A c.(3073-3075)cGg>cAg p.R1025Q CHD3_ENST00000330494.7_Missense_Mutation_p.R966Q|CHD3_ENST00000358181.4_Missense_Mutation_p.R966Q NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 966 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CACATGCTGCGGAGACTCAAG 0.512000 6 70 0 0 1 0 0 THADA 63892 broad.mit.edu 37 2 43799001 43799001 + Splice_Site SNP C C T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr2:43799001C>T ENST00000403856.1 - 14 2056 c.1908_splice c.e14-1 p.V637_splice THADA_ENST00000415080.2_Splice_Site_p.V347_splice|THADA_ENST00000402360.2_Splice_Site_p.V637_splice|THADA_ENST00000405975.2_Splice_Site_p.V637_splice|THADA_ENST00000330266.7_Splice_Site_p.V347_splice|THADA_ENST00000405006.4_Splice_Site_p.V637_splice|THADA_ENST00000404790.1_Splice_Site_p.V637_splice Q6YHU6 THADA_HUMAN thyroid adenoma associated 637 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TCTATCCTTACCTAAAAAACA 0.318000 5 97 0 0 1 0 0 RDH8 50700 broad.mit.edu 37 19 10129527 10129527 + Missense_Mutation SNP G G A TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr19:10129527G>A ENST00000591589.1 + 3 632 c.443G>A c.(442-444)gGc>gAc p.G148D RDH8_ENST00000171214.1_Missense_Mutation_p.G128D Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 128 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) GTGCTTCCAGGCATGAAGAGG 0.602000 4 79 0 0 1 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23191911 23191911 + RNA SNP C C T rs147199465 by1000genomes TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr15:23191911C>T ENST00000400153.2 - 0 1785 NR_003521.1 TGATTTTCTTCGCACTGATCC 0.408000 3 49 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1261283 1261283 + Missense_Mutation SNP T T A TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr16:1261283T>A ENST00000348261.5 + 22 4587 c.4339T>A c.(4339-4341)Ttg>Atg p.L1447M CACNA1H_ENST00000565831.1_Missense_Mutation_p.L1447M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.L1447M NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1447 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TTTTGGCATTTTGGGTGTGCA 0.637000 8 136 0 0 1 0 0 SCUBE2 57758 broad.mit.edu 37 11 9068919 9068919 + Silent SNP A A G TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr11:9068919A>G ENST00000457346.2 - 16 2060 c.1986T>C c.(1984-1986)caT>caC p.H662H RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Silent_p.H633H|SCUBE2_ENST00000520467.1_Silent_p.H662H|SCUBE2_ENST00000450649.2_Silent_p.H507H Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 633 extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) GGTTTTCTGCATGACCCTGGC 0.542000 12 39 0 0 1 0 0 NAF1 92345 broad.mit.edu 37 4 164050124 164050124 + Silent SNP T T C TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr4:164050124T>C ENST00000274054.2 - 8 1603 c.1410A>G c.(1408-1410)ccA>ccG p.P470P NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 470 Pro-rich. rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) ggggagggggtgggggtaggg 0.522000 11 15 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 60 0 0 1 0 0 GBA 2629 broad.mit.edu 37 1 155207977 155207977 + Missense_Mutation SNP T T G TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr1:155207977T>G ENST00000428024.2 - 5 950 c.448A>C c.(448-450)Aag>Cag p.K150Q GBA_ENST00000327247.5_Missense_Mutation_p.K237Q|GBA_ENST00000427500.2_Missense_Mutation_p.K188Q|GBA_ENST00000368373.3_Missense_Mutation_p.K237Q|GBA_ENST00000536770.1_Missense_Mutation_p.K124Q NM_001171811.1 NP_001165282.1 P04062 GLCM_HUMAN glucosidase, beta, acid 237 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) GGCTGTCCCTTGAGTGACCCC 0.577000 Gaucher disease type I 14 27 0 0 1 0 0 AUP1 550 broad.mit.edu 37 2 74754875 74754875 + Missense_Mutation SNP G G A TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr2:74754875G>A ENST00000377526.3 - 8 1138 c.829C>T c.(829-831)Cgc>Tgc p.R277C NM_181575.3 NP_853553.1 Q9Y679 AUP1_HUMAN ancient ubiquitous protein 1 343 endoplasmic reticulum membrane|integral to membrane|nucleus protein binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 11 GACTGGGGGCGCAATCTGGGG 0.512000 4 194 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41045776 41045776 + Nonsense_Mutation SNP C C T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chrX:41045776C>T ENST00000324545.7 + 24 4198 c.3565C>T c.(3565-3567)Caa>Taa p.Q1189* USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q1189* NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 1189 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TCAGATCAACCAAGTTACCCA 0.408000 8 147 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111484935 111484935 + Nonsense_Mutation SNP C C A TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr7:111484935C>A ENST00000428084.1 - 25 2892 c.2620G>T c.(2620-2622)Gaa>Taa p.E874* DOCK4_ENST00000437633.1_Nonsense_Mutation_p.E874* Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 874 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) ACATCTATTTCCTCCAGCACA 0.428000 13 135 2.31682e-05 2.31682e-05 1 1 0 PCDHA10 56139 broad.mit.edu 37 5 140237249 140237249 + Missense_Mutation SNP G G C TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr5:140237249G>C ENST00000307360.5 + 1 1616 c.1616G>C c.(1615-1617)gGg>gCg p.G539A PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 p.G539A(2) NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCGATGGGGGCGTGCCG 0.687000 5 181 0 0 1 0 0 PDE7A 5150 broad.mit.edu 37 8 66635840 66635840 + Silent SNP T T C TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr8:66635840T>C ENST00000401827.3 - 12 1622 c.1179A>G c.(1177-1179)aaA>aaG p.K393K PDE7A_ENST00000396642.3_Silent_p.K393K|PDE7A_ENST00000379419.4_Silent_p.K367K NM_001242318.2 NP_001229247.1 Q13946 PDE7A_HUMAN phosphodiesterase 7A 393 Catalytic (By similarity). cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1) 10 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) CCAAATGATATTTTTTTTCTA 0.294000 14 21 0 0 1 0 0 TATDN2 9797 broad.mit.edu 37 3 10302293 10302293 + Missense_Mutation SNP A A C TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr3:10302293A>C ENST00000287652.4 + 3 1938 c.887A>C c.(886-888)gAc>gCc p.D296A TATDN2_ENST00000448281.2_Missense_Mutation_p.D296A|RP11-438J1.1_ENST00000450534.1_3'UTR NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 296 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 ACTGTCATTGACAAATGCTCT 0.473000 4 134 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32164840 32164840 + Missense_Mutation SNP C C T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr22:32164840C>T ENST00000400246.1 + 7 546 c.404C>T c.(403-405)gCt>gTt p.A135V DEPDC5_ENST00000535622.1_Missense_Mutation_p.A135V|DEPDC5_ENST00000400242.3_Missense_Mutation_p.A135V|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A135V|DEPDC5_ENST00000536766.1_Missense_Mutation_p.A107V|DEPDC5_ENST00000400248.1_Missense_Mutation_p.A135V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000382105.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000382111.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000382112.3_Missense_Mutation_p.A135V O75140 DEPD5_HUMAN DEP domain containing 5 135 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 GTGGAGTTTGCTGGCATCAGG 0.488000 4 134 0 0 1 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033014 82033014 + Missense_Mutation SNP T T C TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr16:82033014T>C ENST00000328945.5 - 3 1011 c.884A>G c.(883-885)gAg>gGg p.E295G NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 295 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 GTGAACCATCTCTGTTAGAAA 0.478000 5 96 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77614243 77614243 + Missense_Mutation SNP T T G TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr3:77614243T>G ENST00000461745.1 + 12 2721 c.1821T>G c.(1819-1821)agT>agG p.S607R ROBO2_ENST00000332191.8_Missense_Mutation_p.S607R|ROBO2_ENST00000487694.3_Missense_Mutation_p.S623R NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 607 Fibronectin type-III 1. 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) GTGACCCAAGTCCCATGTCAG 0.468000 27 68 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058168 11058168 + RNA SNP A A T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr21:11058168A>T ENST00000470054.1 - 0 479 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TACATCTTTCAGGAGCTTGGT 0.388000 5 161 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25289433 25289433 + Silent SNP C C T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr22:25289433C>T ENST00000400358.4 + 17 1863 c.1806C>T c.(1804-1806)acC>acT p.T602T SGSM1_ENST00000400359.4_Silent_p.T657T NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 657 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 ATGCACAGACCATGGCTGAGT 0.652000 3 33 0 0 1 0 0 SEC22B 9554 broad.mit.edu 37 1 145109312 145109313 + RNA INS - - A rs148903206 TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr1:145109312_145109313insA ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding aaaccaaaaacaaaAAAAAAAG 0.416 3 5 --- --- --- --- AC023347.1 0 broad.mit.edu 37 2 127069021 127069022 + RNA INS - - T rs140927368 by1000genomes TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr2:127069021_127069022insT ENST00000435352.1 + 0 136 TAGGAATTTCCTGGTCAAGTCT 0.386 4 3 --- --- --- --- MAGI1 9223 broad.mit.edu 37 3 65372850 65372851 + Frame_Shift_Del DEL TC TC - TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr3:65372850_65372851delTC ENST00000330909.8 - 15 2466_2467 c.2467_2468delGA c.(2467-2469)afs p.E823fs MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 823 PDZ 4. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGAATTGATTTCTCTCTCTCTC 0.401 8 68 --- --- --- --- STAG3L4 64940 broad.mit.edu 37 7 66767611 66767611 + RNA DEL T T - rs12531701 by1000genomes TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr7:66767611delT ENST00000416602.2 + 0 4 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) ACCGGACTGCTTTTTTTTTTT 0.542 3 4 --- --- --- --- PMS2P3 5387 broad.mit.edu 37 7 75142142 75142142 + RNA DEL A A - rs35519730 TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr7:75142142delA ENST00000418756.1 - 0 991 NR_028059.1 lung(1) 1 tctcaaaaagaaaaaaaaaaa 0.418 3 5 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086237 20086237 + RNA DEL T T - TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr14:20086237delT ENST00000548261.1 + 0 51 GGTGTGTGTGTGGGGGGGTAT 0.388 6 9 --- --- --- --- ZNF106 64397 broad.mit.edu 37 15 42710138 42710145 + Frame_Shift_Del DEL GCAACCAT GCAACCAT - TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr15:42710138_42710145delGCAACCAT ENST00000263805.4 - 18 5779_5786 c.5453_5460delATGGTTGC c.(5452-5460)cfs p.HGC1818fs ZNF106_ENST00000565611.1_Frame_Shift_Del_p.HGC1003fs|ZNF106_ENST00000565380.1_Frame_Shift_Del_p.HGC1046fs NM_022473.1 NP_071918.1 zinc finger protein 106 ATATCAGAGAGCAACCATGCCACTGGAG 0.476 12 25 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102312241 102312241 + RNA DEL A A - rs59860046 TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr15:102312241delA ENST00000561463.1 + 0 13609 AGTGGCCGGGAAATTTGCTGT 0.592 5 5 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43429531 43429531 + RNA DEL T T - TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr19:43429531delT ENST00000406070.2 - 0 1340 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) aatatttcaattatcattccc 0.303 2 4 --- --- --- --- KCNJ14 3770 broad.mit.edu 37 19 48965044 48965044 + Frame_Shift_Del DEL G G - TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr19:48965044delG ENST00000391884.1 + 1 539 c.63delG c.(61-63)gcfs p.A21fs KCNJ14_ENST00000342291.2_Frame_Shift_Del_p.A21fs Q9UNX9 IRK14_HUMAN potassium inwardly-rectifying channel, subfamily J, member 14 21 voltage-gated potassium channel complex inward rectifier potassium channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222) ACAGCCGGGCGGGCGATGAAG 0.746 2 4 --- --- --- --- IFNGR2 3460 broad.mit.edu 37 21 34799292 34799292 + Frame_Shift_Del DEL T T - TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr21:34799292delT ENST00000290219.6 + 4 1162 c.514delT c.(514-516)ttfs p.F173fs IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 173 Fibronectin type-III 2. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) CTCCACGGCCTTTTTTTGTTA 0.458 7 388 --- --- --- --- CYP2D7 1564 broad.mit.edu 37 22 42540245 42540245 + RNA DEL C C - TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr22:42540245delC ENST00000433992.1 - 0 292 CYP2D7P1_ENST00000358097.4_RNA endometrium(1) 1 GGTGGGGCATCCTCAGGACCT 0.612 2 4 --- --- --- --- USP9X 8239 broad.mit.edu 37 X 41012243 41012246 + Frame_Shift_Del DEL AATC AATC - TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chrX:41012243_41012246delAATC ENST00000324545.7 + 14 2439_2442 c.1806_1809delAATC c.(1804-1809)ttfs p.LI602fs USP9X_ENST00000378308.2_Frame_Shift_Del_p.LI602fs NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 602 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 GCCATGACTTAATCAATCAACTTC 0.368 50 136 --- --- --- ---