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 CACNA1S 779 broad.mit.edu 37 1 201046222 201046222 + Silent SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr1:201046222G>A ENST00000362061.3 - 12 1879 c.1653C>T c.(1651-1653)tcC>tcT p.S551S CACNA1S_ENST00000367338.3_Silent_p.S551S NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 551 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGTTGAGCAGGGATGCCACCA 0.607000 13 33 0 0 1 0 0 YME1L1 10730 broad.mit.edu 37 10 27436406 27436406 + Silent SNP T T C TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr10:27436406T>C ENST00000477432.1 - 3 1415 c.360A>G c.(358-360)caA>caG p.Q120Q YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000326799.3_Intron Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 0 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 CAATAGGCATTTGGAGAAACC 0.463000 3 15 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12952652 12952652 + Silent SNP C C T rs138098839 by1000genomes TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr8:12952652C>T ENST00000276297.4 - 11 3679 c.3270G>A c.(3268-3270)ccG>ccA p.P1090P DLC1_ENST00000358919.2_Silent_p.P653P|DLC1_ENST00000512044.2_Silent_p.P687P|DLC1_ENST00000520226.1_Silent_p.P579P|DLC1_ENST00000510318.1_5'UTR NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 1090 Rho-GAP. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTGAGGCAACGGTTGTCCTG 0.592000 5 38 0 0 1 0 0 KRIT1 889 broad.mit.edu 37 7 91830634 91830634 + Missense_Mutation SNP A A C TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr7:91830634A>C ENST00000394507.1 - 19 2912 c.2129T>G c.(2128-2130)gTa>gGa p.V710G KRIT1_ENST00000394503.2_Missense_Mutation_p.V662G|KRIT1_ENST00000412043.2_Missense_Mutation_p.V710G|AC000120.7_ENST00000414227.1_RNA|KRIT1_ENST00000394505.2_Missense_Mutation_p.V710G|KRIT1_ENST00000340022.2_Missense_Mutation_p.V710G NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 710 FERM.|Required for RAP1A binding. angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity p.V710E(1) autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTTTGTATGTACTATAAAGCT 0.289000 5 134 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66905906 66905906 + Missense_Mutation SNP G G A rs137852573 TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chrX:66905906G>A ENST00000374690.3 + 3 2347 c.1823G>A c.(1822-1824)cGa>cAa p.R608Q AR_ENST00000504326.1_Missense_Mutation_p.R608Q|AR_ENST00000513847.1_3'UTR|AR_ENST00000396043.2_Missense_Mutation_p.R76Q|AR_ENST00000396044.3_Missense_Mutation_p.R608Q NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 607 Interaction with HIPK3 (By similarity). R -> K (in PAIS and breast cancer; defective nuclear localization). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) GATAAATTCCGAAGGAAAAAT 0.423000 Androgen Insensitivity Syndrome 10 24 0 0 1 0 0 PER1 5187 broad.mit.edu 37 17 8045265 8045265 + Missense_Mutation SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr17:8045265G>A ENST00000317276.4 - 22 3695 c.3458C>T c.(3457-3459)aCc>aTc p.T1153I PER1_ENST00000581082.1_Missense_Mutation_p.T1130I NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 1153 CRY binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CAGCACAGAGGTCATGTCCCT 0.622000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 5 40 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201044699 201044699 + Missense_Mutation SNP G G C TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr1:201044699G>C ENST00000362061.3 - 13 2098 c.1872C>G c.(1870-1872)atC>atG p.I624M CACNA1S_ENST00000367338.3_Missense_Mutation_p.I624M NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 624 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CGTAGGCCATGATCCCATTGT 0.547000 18 61 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166848111 166848111 + Nonsense_Mutation SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr2:166848111G>A ENST00000423058.2 - 26 5691 c.5674C>T c.(5674-5676)Cga>Tga p.R1892* SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R1864*|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R1892*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R1881*|AC010127.3_ENST00000595647.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1892 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GCCATGAATCGCTCTTCCATC 0.438000 10 51 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481789 142481789 + RNA SNP T T C rs140267598 by1000genomes TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr7:142481789T>C ENST00000603901.1 + 0 468 NR_001296.3 ACTACCCAGATGAGCTGCAGT 0.488000 4 47 0 0 1 0 0 TPSAB1 7177 broad.mit.edu 37 16 1291438 1291438 + Silent SNP C C T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr16:1291438C>T ENST00000461509.2 + 3 452 c.258C>T c.(256-258)gaC>gaT p.D86D TPSAB1_ENST00000338844.3_Silent_p.D79D P20231 TRYB2_HUMAN tryptase alpha/beta 1 79 Peptidase S1. proteolysis extracellular region protein binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1) 10 Hepatocellular(780;0.00369) TGCCCAGGGACGTCAAGGATC 0.687000 3 13 0 0 1 0 0 ABHD1 84696 broad.mit.edu 37 2 27351917 27351917 + Missense_Mutation SNP T T G TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr2:27351917T>G ENST00000316470.4 + 3 494 c.380T>G c.(379-381)cTg>cGg p.L127R NM_032604.3 NP_115993.3 Q96SE0 ABHD1_HUMAN abhydrolase domain containing 1 127 integral to membrane carboxylesterase activity endometrium(1)|kidney(1)|lung(3) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATTGTGCTGCTGCTTCCTGGC 0.567000 11 28 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 101023020 101023020 + Silent SNP T T C TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr3:101023020T>C ENST00000193391.7 - 3 658 c.471A>G c.(469-471)gaA>gaG p.E157E NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 157 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GTTCCACAGATTCACTAAAAT 0.408000 15 76 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179605498 179605498 + Silent SNP C C T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr3:179605498C>T ENST00000467460.1 - 4 603 c.273G>A c.(271-273)tcG>tcA p.S91S PEX5L_ENST00000464614.1_Silent_p.S48S|PEX5L_ENST00000465751.1_Silent_p.S67S|PEX5L_ENST00000392649.3_Silent_p.S48S|PEX5L_ENST00000263962.8_Silent_p.S89S|PEX5L_ENST00000485199.1_Silent_p.S56S|PEX5L_ENST00000476138.1_Silent_p.S48S|PEX5L_ENST00000472994.1_Silent_p.S32S|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_5'UTR NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 91 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) CTATTGCTTCCGATTTGGTTT 0.413000 22 80 0 0 1 0 0 SLC25A46 91137 broad.mit.edu 37 5 110097084 110097084 + Silent SNP C C T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr5:110097084C>T ENST00000355943.3 + 8 985 c.859C>T c.(859-861)Cta>Tta p.L287L SLC25A46_ENST00000513807.1_Silent_p.L125L|SLC25A46_ENST00000509442.2_Silent_p.L196L|SLC25A46_ENST00000509432.1_Silent_p.L74L|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000504098.1_Silent_p.L141L|SLC25A46_ENST00000513706.1_3'UTR NM_138773.1 NP_620128.1 Q96AG3 S2546_HUMAN solute carrier family 25, member 46 287 transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211) GAAGTTTGTCCTACTAATTCT 0.408000 14 78 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226447087 226447087 + Silent SNP G G T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr2:226447087G>T ENST00000272907.6 + 4 1367 c.954G>T c.(952-954)ctG>ctT p.L318L NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 318 Pro-rich. CCAAGGGGCTGCTTTGCGACA 0.632000 9 32 0.00829132 0.00855042 1 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 42 0.150653 0.152971 1 1 0 GPR84 0 broad.mit.edu 37 12 54756711 54756711 + Missense_Mutation SNP C C A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr12:54756711C>A ENST00000551809.1 - 1 1560 c.925G>T c.(925-927)Gat>Tat p.D309Y GPR84_ENST00000267015.3_Missense_Mutation_p.D309Y|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 309 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 GATGAAGAATCCGGAGCTCTT 0.498000 19 94 2.35188e-11 2.54466e-11 1 1 0 CPN1 1369 broad.mit.edu 37 10 101802208 101802208 + Silent SNP C C T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr10:101802208C>T ENST00000370418.3 - 9 1604 c.1353G>A c.(1351-1353)agG>agA p.R451R NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 451 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) TCTGCAGCTGCCTCATCTCCA 0.532000 9 55 0 0 1 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24524025 24524025 + Missense_Mutation SNP G G A rs139628724 byFrequency TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr20:24524025G>A ENST00000376862.3 + 2 925 c.292G>A c.(292-294)Gtg>Atg p.V98M NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 98 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane p.V98M(2) breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 TTCAGAGGGCGTGCTGCGCTC 0.652000 11 55 0 0 1 0 0 AKAP1 8165 broad.mit.edu 37 17 55197639 55197639 + Missense_Mutation SNP A A G TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr17:55197639A>G ENST00000337714.3 + 11 2899 c.2666A>G c.(2665-2667)gAg>gGg p.E889G AKAP1_ENST00000539273.1_Missense_Mutation_p.E889G|AKAP1_ENST00000571629.1_Missense_Mutation_p.E889G|AKAP1_ENST00000572557.1_Missense_Mutation_p.E889G NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 889 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) TCCCTGGTGGAGCGAGGCCTT 0.512000 19 16 0 0 1 0 0 CXXC5 51523 broad.mit.edu 37 5 139060727 139060727 + Missense_Mutation SNP G G T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr5:139060727G>T ENST00000302517.3 + 2 1333 c.619G>T c.(619-621)Gac>Tac p.D207Y CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Missense_Mutation_p.D207Y NM_016463.7 NP_057547.5 Q7LFL8 CXXC5_HUMAN CXXC finger protein 5 207 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCCAGTCCGACTTCCCCTA 0.662000 6 22 2.7689e-08 2.90075e-08 1 1 0 RBFOX1 54715 broad.mit.edu 37 16 7647415 7647415 + Missense_Mutation SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr16:7647415G>A ENST00000340209.4 + 6 916 c.619G>A c.(619-621)Gtc>Atc p.V207I RBFOX1_ENST00000547338.1_Missense_Mutation_p.V202I|RBFOX1_ENST00000355637.4_Missense_Mutation_p.V222I|RBFOX1_ENST00000553186.1_Missense_Mutation_p.V202I|RBFOX1_ENST00000436368.2_Missense_Mutation_p.V222I|RBFOX1_ENST00000547372.1_Missense_Mutation_p.V245I|RBFOX1_ENST00000535565.2_Missense_Mutation_p.V159I|RBFOX1_ENST00000550418.1_Missense_Mutation_p.V202I|RBFOX1_ENST00000552089.1_Missense_Mutation_p.V219I|RBFOX1_ENST00000311745.5_Missense_Mutation_p.V222I|RBFOX1_ENST00000422070.4_Missense_Mutation_p.V245I Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 202 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 TAAAAAGACCGTCAACCCTTA 0.348000 6 78 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53079457 53079457 + Missense_Mutation SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr8:53079457G>A ENST00000276480.7 - 11 1842 c.1159C>T c.(1159-1161)Cgc>Tgc p.R387C NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 387 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GAAAGGCTGCGGTGGTGCGGG 0.562000 13 108 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11676141 11676141 + Missense_Mutation SNP C C T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr7:11676141C>T ENST00000423059.3 - 2 889 c.638G>A c.(637-639)gGg>gAg p.G213E NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 213 TSP type-1 2. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GTGCTGGAGCCCGCTGCCGCA 0.607000 HNSCC(18;0.044) 23 19 0 0 1 0 0 COG3 83548 broad.mit.edu 37 13 46050413 46050413 + Silent SNP A A G TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr13:46050413A>G ENST00000349995.5 + 2 364 c.252A>G c.(250-252)acA>acG p.T84T NM_031431.3 NP_113619.2 Q96JB2 COG3_HUMAN component of oligomeric golgi complex 3 84 ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER cis-Golgi network|Golgi cisterna membrane|Golgi transport complex protein binding|protein transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1) 24 Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000124) CTGAATCTACAGAAGACATTC 0.408000 3 32 0 0 1 0 0 BTBD1 53339 broad.mit.edu 37 15 83710528 83710528 + Missense_Mutation SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr15:83710528G>A ENST00000261721.4 - 4 1016 c.814C>T c.(814-816)Ctt>Ttt p.L272F RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.L272F|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.7_ENST00000570202.1_RNA NM_001011885.1|NM_025238.3 NP_001011885.1|NP_079514.1 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 272 cytoplasmic mRNA processing body|protein complex protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) ATTAAGGAAAGTGCTTTTCCT 0.388000 23 93 0 0 1 0 0 SF3B3 23450 broad.mit.edu 37 16 70569246 70569246 + Missense_Mutation SNP A A T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr16:70569246A>T ENST00000302516.5 + 6 959 c.748A>T c.(748-750)Atc>Ttc p.I250F NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 250 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) TGGAGTACTGATCTGCTCTGA 0.418000 6 190 0 0 1 0 0 AFG3L2 10939 broad.mit.edu 37 18 12360038 12360038 + Missense_Mutation SNP A A G TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr18:12360038A>G ENST00000269143.3 - 7 871 c.640T>C c.(640-642)Ttt>Ctt p.F214L NM_006796.2 NP_006787.2 Q9Y4W6 AFG32_HUMAN AFG3-like AAA ATPase 2 214 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) CCAATATTAAACCAAACGTAT 0.353000 10 39 0 0 1 0 0 NT5DC2 64943 broad.mit.edu 37 3 52559262 52559262 + Missense_Mutation SNP A A T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr3:52559262A>T ENST00000307076.4 - 11 1458 c.1058T>A c.(1057-1059)gTg>gAg p.V353E NT5DC2_ENST00000459839.1_Missense_Mutation_p.V365E|NT5DC2_ENST00000307092.4_Missense_Mutation_p.V294E|NT5DC2_ENST00000422318.2_Missense_Mutation_p.V390E NM_022908.2 NP_075059.1 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 353 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) GAAGTAGAGCACGCGGGGGCC 0.652000 4 28 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100789020 100789020 + Missense_Mutation SNP G G C TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr8:100789020G>C ENST00000358544.2 + 41 7451 c.7340G>C c.(7339-7341)gGt>gCt p.G2447A VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.G2422A NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2447 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGTGAGTCTGGTTCTCAAAGC 0.428000 39 45 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5058605 5058605 + Missense_Mutation SNP C C T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr16:5058605C>T ENST00000251170.7 + 14 1936 c.1756C>T c.(1756-1758)Cgt>Tgt p.R586C NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 586 GOLD. integral to membrane|intracellular transporter activity p.R586C(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 GGATTACAGCCGTGTGGAGGC 0.652000 8 42 0 0 1 0 0 FNDC3B 64778 broad.mit.edu 37 3 172096070 172096070 + Missense_Mutation SNP A A G TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr3:172096070A>G ENST00000336824.4 + 24 3118 c.3019A>G c.(3019-3021)Atc>Gtc p.I1007V FNDC3B_ENST00000416957.1_Missense_Mutation_p.I1007V|FNDC3B_ENST00000415807.2_Missense_Mutation_p.I1007V NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 1007 Fibronectin type-III 8. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) GTTTATTTCAATCTACAGAGG 0.453000 19 23 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107703416 107703416 + Missense_Mutation SNP C C T rs138272045 TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr7:107703416C>T ENST00000388781.3 - 23 3168 c.3085G>A c.(3085-3087)Gtg>Atg p.V1029M LAMB4_ENST00000388780.3_Missense_Mutation_p.V1029M|LAMB4_ENST00000205386.4_Missense_Mutation_p.V1029M NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1029 Laminin EGF-like 11. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 ATGGGACTCACGCCGGAAGCA 0.517000 14 16 0 0 1 0 0 PCDHB2 0 broad.mit.edu 37 5 140475876 140475876 + Missense_Mutation SNP C C T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr5:140475876C>T ENST00000194155.4 + 1 1650 c.1502C>T c.(1501-1503)cCc>cTc p.P501L NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 501 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGCACCTGCCCCTCGCCTCC 0.692000 8 122 0 0 1 0 0 C16orf59 80178 broad.mit.edu 37 16 2512433 2512433 + Silent SNP C C T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr16:2512433C>T ENST00000569496.1 + 7 827 c.768C>T c.(766-768)ccC>ccT p.P256P C16orf59_ENST00000563531.1_Silent_p.P256P|C16orf59_ENST00000483320.1_Silent_p.P89P|C16orf59_ENST00000361837.4_Silent_p.P256P Q7L2K0 CP059_HUMAN chromosome 16 open reading frame 59 256 lung(1)|skin(1)|urinary_tract(1) 3 Ovarian(90;0.17) GGCCCCAGCCCAGGCTCAGTG 0.682000 3 22 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 20949942 20949942 + Missense_Mutation SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr11:20949942G>A ENST00000298925.5 + 10 1151 c.998G>A c.(997-999)cGa>cAa p.R333Q NELL1_ENST00000532434.1_Missense_Mutation_p.R305Q|NELL1_ENST00000325319.5_Missense_Mutation_p.R248Q|NELL1_ENST00000357134.5_Missense_Mutation_p.R305Q Q92832 NELL1_HUMAN NEL-like 1 (chicken) 305 cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 GTGGAATGCCGAAGGATGTCC 0.517000 7 29 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151884803 151884803 + Missense_Mutation SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr7:151884803G>A ENST00000355193.2 - 32 5008 c.4790C>T c.(4789-4791)gCc>gTc p.A1597V KMT2C_ENST00000262189.6_Missense_Mutation_p.A1597V lysine (K)-specific methyltransferase 2C CTTGTACCTGGCATCAGGATA 0.368000 4 73 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88707090 88707090 + Silent SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr14:88707090G>A ENST00000340700.5 - 3 913 c.462C>T c.(460-462)ctC>ctT p.L154L KCNK10_ENST00000312350.5_Silent_p.L159L|KCNK10_ENST00000319231.5_Silent_p.L159L NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 154 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 AGGCACTGCCGAGGTCCCAGT 0.478000 5 100 0 0 1 0 0 ACTB 60 broad.mit.edu 37 7 5568828 5568828 + Silent SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr7:5568828G>A ENST00000331789.5 - 3 518 c.327C>T c.(325-327)ccC>ccT p.P109P NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 109 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) TGGGGTTCAGGGGGGCCTCGG 0.647000 10 38 0 0 1 0 0 F11 2160 broad.mit.edu 37 4 187201491 187201491 + Missense_Mutation SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr4:187201491G>A ENST00000264692.4 + 9 1157 c.824G>A c.(823-825)tGc>tAc p.C275Y F11_ENST00000403665.2_Missense_Mutation_p.C327Y P03951 FA11_HUMAN coagulation factor XI 327 Apple 3. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) GCCGTCCGCTGCCAGTTTTTT 0.498000 12 101 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396827 38396827 + Missense_Mutation SNP A A G TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr9:38396827A>G ENST00000377698.3 + 2 1235 c.1082A>G c.(1081-1083)cAg>cGg p.Q361R NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 361 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) CAGGGGCCTCAGGTGGACAAG 0.557000 3 39 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37732086 37732086 + Silent SNP C C T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr8:37732086C>T ENST00000330843.4 - 3 1581 c.1569G>A c.(1567-1569)ccG>ccA p.P523P RAB11FIP1_ENST00000287263.4_Silent_p.P523P|RAB11FIP1_ENST00000522727.1_Silent_p.P375P|RAB11FIP1_ENST00000524118.1_Silent_p.P375P NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 523 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding p.P523P(1) NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) TTGGAGGTCTCGGTTCAGACT 0.552000 4 22 0 0 1 0 0 NAGA 4668 broad.mit.edu 37 22 42461779 42461779 + Missense_Mutation SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr22:42461779G>A ENST00000396398.3 - 6 1254 c.722C>T c.(721-723)cCa>cTa p.P241L NAGA_ENST00000403363.1_Missense_Mutation_p.P241L|NAGA_ENST00000402937.1_Missense_Mutation_p.P241L NM_000262.2 NP_000253.1 P17050 NAGAB_HUMAN N-acetylgalactosaminidase, alpha- 241 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 GCCGGCCACTGGCTGCAGTAT 0.597000 4 37 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50473221 50473221 + RNA SNP T T C rs117072442 by1000genomes TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr19:50473221T>C ENST00000602139.1 + 0 222 sialic acid binding Ig-like lectin 16 (gene/pseudogene) p.W65R(3) endometrium(2)|kidney(2)|lung(6) 10 GTTCAAAGGATGGACCAGCCC 0.602000 4 42 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 4 50 0 0 1 0 0 LMBR1 64327 broad.mit.edu 37 7 156554869 156554869 + Missense_Mutation SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr7:156554869G>A ENST00000353442.4 - 8 879 c.643C>T c.(643-645)Cgt>Tgt p.R215C LMBR1_ENST00000359422.4_Missense_Mutation_p.R63C|LMBR1_ENST00000540390.1_Missense_Mutation_p.R194C|LMBR1_ENST00000354505.4_Missense_Mutation_p.R215C NM_022458.3 NP_071903.2 Q8WVP7 LMBR1_HUMAN limb development membrane protein 1 215 integral to membrane receptor activity p.R215S(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 18 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.208) GTGAACATACGAGAAAGGCCA 0.338000 10 76 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201046060 201046060 + Silent SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr1:201046060G>A ENST00000362061.3 - 12 2041 c.1815C>T c.(1813-1815)atC>atT p.I605I CACNA1S_ENST00000367338.3_Silent_p.I605I NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 605 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ggaagacgctgatgagggCTT 0.542000 26 34 0 0 1 0 0 GRIA1 0 broad.mit.edu 37 5 153065834 153065834 + Missense_Mutation SNP G G A rs143445023 TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr5:153065834G>A ENST00000285900.5 + 8 1422 c.1079G>A c.(1078-1080)cGc>cAc p.R360H GRIA1_ENST00000340592.5_Missense_Mutation_p.R360H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R280H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R291H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R370H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R370H NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 360 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GAGAAAGGACGCCGGACCAAC 0.468000 13 69 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120621408 120621408 + Silent SNP C C T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr12:120621408C>T ENST00000300648.6 - 5 402 c.390G>A c.(388-390)tcG>tcA p.S130S NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 130 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCTTGGCTCTCGATGGAAAGA 0.542000 4 56 0 0 1 0 0 OR6N1 128372 broad.mit.edu 37 1 158735834 158735834 + Silent SNP C C A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr1:158735834C>A ENST00000335094.2 - 1 658 c.639G>T c.(637-639)ctG>ctT p.L213L NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) AGCAGAGGATCAGCAGGAAGG 0.498000 7 108 0.248553 0.248553 1 1 0 CROCCP2 0 broad.mit.edu 37 1 16946501 16946501 + RNA DEL G G - TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr1:16946501delG ENST00000412962.1 - 0 1018 TCGGCCTCCAGCTCCCGCCAT 0.667 3 5 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 4 5 --- --- --- --- SPRR3 6707 broad.mit.edu 37 1 152975806 152975829 + In_Frame_Del DEL CCAGGCTACACCAAGGTCCCTGAA CCAGGCTACACCAAGGTCCCTGAA - rs1970328 byFrequency TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA ENST00000331860.3 + 3 460_483 c.310_333delCCAGGCTACACCAAGGTCCCTGAA c.(310-333)del p.PGYTKVPE104del SPRR3_ENST00000295367.4_In_Frame_Del_p.PGYTKVPE104del|SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 104 14 X 8 AA approximate tandem repeats. Missing. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity p.Y106C(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA 0.567 9 57 --- --- --- --- OR2T35 403244 broad.mit.edu 37 1 248801602 248801603 + Frame_Shift_Ins INS - - CA TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr1:248801602_248801603insCA ENST00000317450.3 - 1 956_957 c.957_958insTG c.(955-960)gttcagfs p.Q320fs NM_001001827.1 NP_001001827.1 Q8NGX2 O2T35_HUMAN olfactory receptor, family 2, subfamily T, member 35 320 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I320fs*1(1) endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 6 all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCCTTCCTGATCACAGTCGCCA 0.545 4 5 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586653 1586654 + In_Frame_Ins INS - - GCC rs112463195 by1000genomes TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr7:1586653_1586654insGCC ENST00000297477.5 - 9 1492_1493 c.1176_1177insGGC c.(1174-1179)ggccgg>ggGGCccgg p.392_393GR>GAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 392 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) CTCCCGCCGGAGCCGCCGCTGG 0.708 5 6 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284884 38284885 + RNA INS - - GG rs138091320 by1000genomes TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr7:38284884_38284885insGG ENST00000436911.2 - 0 330 TTATTTGTCAAGgtgtgtgtgt 0.391 31 66 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 7 34 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 7 80 --- --- --- --- RP11-333E1.1 0 broad.mit.edu 37 17 5096766 5096766 + RNA DEL A A - TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr17:5096766delA ENST00000571689.1 + 0 60 RP11-333E1.1_ENST00000575601.1_RNA NR_034082.1 tcaaaaaaataaaaaaaaaaa 0.507 2 4 --- --- --- --- TTC25 83538 broad.mit.edu 37 17 40104559 40104560 + RNA INS - - A rs61095073 TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr17:40104559_40104560insA ENST00000591658.1 + 0 1213 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 cytoplasm protein binding endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) accctcactccaaaaaaaaaaa 0.416 4 7 --- --- --- ---