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 MGAT2 4247 broad.mit.edu 37 14 50088451 50088451 + Missense_Mutation SNP C C G TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr14:50088451C>G ENST00000305386.2 + 1 963 c.465C>G c.(463-465)ttC>ttG p.F155L RP11-649E7.5_ENST00000555043.1_RNA NM_002408.3 NP_002399.1 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 155 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(6) 11 all_epithelial(31;0.0021)|Breast(41;0.0124) GCCATGACTTCTGGTCGACCG 0.512000 3 71 0 0 1 0 0 PITPNA 5306 broad.mit.edu 37 17 1456343 1456343 + Missense_Mutation SNP T T C TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr17:1456343T>C ENST00000313486.7 - 3 407 c.152A>G c.(151-153)gAc>gGc p.D51G PITPNA_ENST00000539476.1_Missense_Mutation_p.D51G NM_006224.3 NP_006215.1 Q00169 PIPNA_HUMAN phosphatidylinositol transfer protein, alpha 51 axon guidance|lipid metabolic process|visual perception cytoplasm phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 UCEC - Uterine corpus endometrioid carcinoma (25;0.0845) TTTCTCACCGTCCTTCTCGTA 0.552000 56 89 0 0 1 0 0 RHBDD3 25807 broad.mit.edu 37 22 29656429 29656429 + Missense_Mutation SNP G G A TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr22:29656429G>A ENST00000216085.7 - 6 1293 c.869C>T c.(868-870)gCg>gTg p.A290V NM_012265.1 NP_036397.1 Q9Y3P4 RHBD3_HUMAN rhomboid domain containing 3 290 integral to membrane serine-type endopeptidase activity lung(1)|ovary(1) 2 ATCCAAGGCCGCCCACATCGG 0.672000 2 2 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138713116 138713116 + Missense_Mutation SNP G G A TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr9:138713116G>A ENST00000389532.4 - 11 3455 c.3391C>T c.(3391-3393)Ccg>Tcg p.P1131S CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P1142S|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P853S|CAMSAP1_ENST00000483991.1_5'UTR NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 1131 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) CTCAAGTGCGGGAGCGTCTCT 0.647000 3 46 0 0 1 0 0 BGN 633 broad.mit.edu 37 X 152770767 152770767 + Missense_Mutation SNP G G A rs150272427 byFrequency TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chrX:152770767G>A ENST00000331595.4 + 3 496 c.310G>A c.(310-312)Gag>Aag p.E104K BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Missense_Mutation_p.E43K NM_001711.4 NP_001702.1 P21810 PGS1_HUMAN biglycan 104 proteinaceous extracellular matrix|transport vesicle extracellular matrix structural constituent breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGACATCTCCGAGCTCCGCAA 0.617000 26 44 0 0 1 0 0 TRPV2 51393 broad.mit.edu 37 17 16338272 16338272 + Missense_Mutation SNP C C A TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr17:16338272C>A ENST00000338560.7 + 14 2582 c.2183C>A c.(2182-2184)gCa>gAa p.A728E TRPV2_ENST00000577397.1_Missense_Mutation_p.A298E NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 728 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CCGTCAGGGGCAGGTGTCCCT 0.627000 12 27 4.3838e-07 4.65779e-07 1 1 0 MAPK8IP2 23542 broad.mit.edu 37 22 51044090 51044090 + Missense_Mutation SNP C C T TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr22:51044090C>T ENST00000399908.2 + 5 1860 c.1144C>T c.(1144-1146)Cgc>Tgc p.R382C MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.R647C|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.R370C|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.R382C|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.R353C|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.R268C NM_016431.3 NP_057515.1 Q13387 JIP2_HUMAN mitogen-activated protein kinase 8 interacting protein 2 648 behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTTCAACATGCGCACGGGGGA 0.652000 4 21 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 11 24 0 0 1 0 0 CES4A 283848 broad.mit.edu 37 16 67036990 67036990 + Silent SNP C C G TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr16:67036990C>G ENST00000540947.2 + 6 892 c.708C>G c.(706-708)gcC>gcG p.A236A CES4A_ENST00000541479.1_Silent_p.A259A|CES4A_ENST00000540579.1_Silent_p.A138A|CES4A_ENST00000398354.1_Silent_p.A236A|CES4A_ENST00000535696.1_Silent_p.A142A|CES4A_ENST00000326686.5_Silent_p.A236A|CES4A_ENST00000338718.4_Silent_p.A259A NM_173815.6 NP_776176.5 Q5XG92 EST4A_HUMAN carboxylesterase 4A 236 extracellular region carboxylesterase activity large_intestine(2)|liver(2)|lung(4)|ovary(1) 9 CACCCCTAGCCTCGGGTCTCT 0.552000 27 51 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57563020 57563020 + Missense_Mutation SNP C C G TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr12:57563020C>G ENST00000243077.3 + 20 3559 c.3093C>G c.(3091-3093)caC>caG p.H1031Q LRP1_ENST00000553446.1_3'UTR NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1031 LDL-receptor class A 7. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TCCCCGAGCACTGGACCTGCG 0.612000 3 46 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 3 25 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr19:12501446T>C ENST00000419318.1 - 4 2419 c.1670A>G c.(1669-1671)gAa>gGa p.E557G CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G Q96GE5 ZN799_HUMAN zinc finger protein 799 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 3 15 0 0 1 0 0 RP11-419C5.2 0 broad.mit.edu 37 16 70011854 70011854 + Missense_Mutation SNP T T C rs145494569 by1000genomes TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr16:70011854T>C ENST00000325845.7 - 26 2740 c.671A>G c.(670-672)aAg>aGg p.K224R RP11-419C5.2_ENST00000532298.1_Intron|PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000525562.1_5'UTR breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1) 13 ACTGTGATGCTTGTAGGCAGC 0.522000 3 15 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr1:74575212_74575213insT ENST00000354431.4 - 5 923_924 c.732_733insA c.(730-735)aaagcafs p.A245fs LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTTCCTGCTGTTTTTTTTTGT 0.327 9 23 --- --- --- --- AC128709.2 0 broad.mit.edu 37 3 197186599 197186600 + RNA INS - - G rs66804255 TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr3:197186599_197186600insG ENST00000420213.1 + 0 138 tgtggtcgggagggatgcagtt 0.604 7 54 --- --- --- --- RP11-897M7.1 0 broad.mit.edu 37 12 131962167 131962168 + RNA INS - - ATA rs148457819 by1000genomes TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr12:131962167_131962168insATA ENST00000535133.1 - 0 195 tggtaatggtggtgatgatggt 0.426 12 13 --- --- --- --- RP11-66N24.4 0 broad.mit.edu 37 14 24020895 24020897 + RNA DEL CCT CCT - TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr14:24020895_24020897delCCT ENST00000553985.1 + 0 238 RP11-66N24.4_ENST00000556354.1_RNA NR_046052.1 tcctcctcgccctcctcctcctc 0.621 3 5 --- --- --- --- RP11-426C22.5 0 broad.mit.edu 37 16 29210269 29210269 + RNA DEL G G - TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr16:29210269delG ENST00000562902.1 + 0 200 ATGATCCTGAGGGAGGGGAGG 0.622 2 4 --- --- --- --- RP11-405F3.4 0 broad.mit.edu 37 16 57725064 57725073 + RNA DEL AGAAGGAGGG AGAAGGAGGG - rs137989784 by1000genomes TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr16:57725064_57725073delAGAAGGAGGG ENST00000563062.1 - 0 463 aggaggaggaagaaggagggagaaggaggg 0.529 2 4 --- --- --- --- SPPL2B 56928 broad.mit.edu 37 19 2344118 2344119 + RNA DEL AT AT - TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr19:2344118_2344119delAT ENST00000452401.2 + 0 1190 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) caccccccccatcaccccgccc 0.738 3 6 --- --- --- --- AP000282.2 0 broad.mit.edu 37 21 34355469 34355470 + RNA INS - - C TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr21:34355469_34355470insC ENST00000454622.1 - 0 201 AP000282.2_ENST00000420356.1_RNA cctctccccctccctggccctc 0.574 2 4 --- --- --- --- SAGE1 55511 broad.mit.edu 37 X 134995047 134995047 + Frame_Shift_Del DEL A A - TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chrX:134995047delA ENST00000535938.1 + 20 2873 c.2706delA c.(2704-2706)agfs p.R902fs SAGE1_ENST00000537770.1_Frame_Shift_Del_p.R526fs|SAGE1_ENST00000324447.3_Frame_Shift_Del_p.R902fs|SAGE1_ENST00000370709.3_Frame_Shift_Del_p.R902fs NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 902 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) AGCACATGAGAAAAAGATAAT 0.368 2 4 --- --- --- ---