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 FCER2 2208 broad.mit.edu 37 19 7754305 7754305 + Missense_Mutation SNP G G A TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr19:7754305G>A ENST00000346664.5 - 11 952 c.740C>T c.(739-741)cCa>cTa p.P247L FCER2_ENST00000597921.1_Missense_Mutation_p.P247L|FCER2_ENST00000360067.4_Missense_Mutation_p.P246L NM_001220500.1|NM_002002.4 NP_001207429.1|NP_001993.2 P06734 FCER2_HUMAN Fc fragment of IgE, low affinity II, receptor for (CD23) 247 C-type lectin. positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity extracellular region|integral to plasma membrane IgE binding|integrin binding|receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 10 GGGCTCCCCTGGAGCCCAGTT 0.677000 10 7 0 0 0.069234 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73315689 73315689 + Missense_Mutation SNP G G A TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr2:73315689G>A ENST00000258098.6 - 3 1297 c.1057C>T c.(1057-1059)Cgg>Tgg p.R353W RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 353 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 CTGCGGTGCCGCACAGGGCCC 0.627000 4 82 0 0 0.009096 0 0 MYO15A 51168 broad.mit.edu 37 17 18057452 18057452 + Missense_Mutation SNP A A G TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr17:18057452A>G ENST00000205890.5 + 44 8434 c.8096A>G c.(8095-8097)tAc>tGc p.Y2699C MYO15A_ENST00000418233.3_5'UTR|MYO15A_ENST00000585180.1_5'UTR NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2699 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CAGGTGTTTTACCCCAAGGAC 0.637000 4 108 0 0 0.014758 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212809 26212809 + Silent SNP G G A TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chrX:26212809G>A ENST00000379034.1 + 2 995 c.846G>A c.(844-846)ctG>ctA p.L282L NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 282 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 ATAATGCGCTGCCGAAGTCGG 0.542000 8 250 0 0 0.038147 0 0 BCL9 607 broad.mit.edu 37 1 147091712 147091712 + Missense_Mutation SNP G G T TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr1:147091712G>T ENST00000234739.3 + 8 2491 c.1751G>T c.(1750-1752)aGa>aTa p.R584I NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 584 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) CCTGCATCTAGACCAGGTCTT 0.552000 T """IGH@, IGL@""" B-ALL 6 213 5.9392e-07 8.31488e-07 0.021553 1 0 GOT2 2806 broad.mit.edu 37 16 58743338 58743338 + Missense_Mutation SNP C C A TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr16:58743338C>A ENST00000245206.5 - 9 1281 c.1153G>T c.(1153-1155)Ggg>Tgg p.G385W GOT2_ENST00000434819.2_Missense_Mutation_p.G342W NM_002080.2 NP_002071.2 P00505 AATM_HUMAN glutamic-oxaloacetic transaminase 2, mitochondrial 385 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1) 22 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GGCTTTAGCCCTGTGAAACAG 0.458000 4 170 0.00909568 0.0112358 0.009096 1 0 HPD 3242 broad.mit.edu 37 12 122292689 122292689 + Missense_Mutation SNP C C T TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr12:122292689C>T ENST00000543163.1 - 8 662 c.217G>A c.(217-219)Gaa>Aaa p.E73K HPD_ENST00000289004.4_Missense_Mutation_p.E112K NM_001171993.1 NP_001165464.1 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase 112 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) GCGCCCCGTTCCCGTGCTTTC 0.597000 55 65 0 0 0.139131 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 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 42 79 0 0 0.111260 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453858 84453858 + Silent SNP G G A TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr13:84453858G>A ENST00000377084.2 - 1 2670 c.1785C>T c.(1783-1785)aaC>aaT p.N595N NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 595 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) ACCCAGTGCTGTTTTTACTGT 0.542000 4 62 0 0 0.014758 0 0 NUMA1 0 broad.mit.edu 37 11 71734181 71734181 + Missense_Mutation SNP T T C rs140051813 byFrequency TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr11:71734181T>C ENST00000393695.3 - 6 552 c.221A>G c.(220-222)cAt>cGt p.H74R NUMA1_ENST00000358965.6_Missense_Mutation_p.H74R|NUMA1_ENST00000351960.6_Missense_Mutation_p.H74R NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 74 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 GGAAGAGGGATGTTTTCGATT 0.493000 T RARA APL 63 97 0 0 0.139131 0 0 NLRP1 22861 broad.mit.edu 37 17 5487102 5487102 + Missense_Mutation SNP G G A TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr17:5487102G>A ENST00000345221.3 - 1 730 c.176C>T c.(175-177)gCt>gTt p.A59V NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.A59V|NLRP1_ENST00000572272.1_Missense_Mutation_p.A59V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A59V|NLRP1_ENST00000354411.3_Missense_Mutation_p.A59V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A59V NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 59 DAPIN. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) CCCATACTGAGCCACCAGGTA 0.637000 2 6 0 0 0.115264 0 0 SLC38A4 55089 broad.mit.edu 37 12 47168909 47168909 + Missense_Mutation SNP A A T TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr12:47168909A>T ENST00000447411.1 - 13 1428 c.1222T>A c.(1222-1224)Tta>Ata p.L408I SLC38A4_ENST00000266579.4_Missense_Mutation_p.L408I NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 408 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) GGGATGTCTAATGTATACACT 0.438000 60 95 0 0 0.139131 0 0 ZNF607 84775 broad.mit.edu 37 19 38190685 38190685 + Missense_Mutation SNP C C A TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr19:38190685C>A ENST00000355202.4 - 5 942 c.347G>T c.(346-348)tGt>tTt p.C116F ZNF607_ENST00000395835.3_Missense_Mutation_p.C115F|CTD-2528L19.4_ENST00000586606.2_Splice_Site NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) ACATTGCTTACACTCATATGG 0.368000 88 132 4.37026e-21 6.55538e-21 0.139131 1 0 C11orf63 79864 broad.mit.edu 37 11 122774973 122774973 + Missense_Mutation SNP G G T TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr11:122774973G>T ENST00000227349.2 + 3 982 c.685G>T c.(685-687)Gtg>Ttg p.V229L C11orf63_ENST00000531316.1_Missense_Mutation_p.V229L|C11orf63_ENST00000307257.6_Missense_Mutation_p.V229L NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 229 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) TTCTCCGTACGTGAAGAGCTC 0.512000 5 181 1.23904e-05 1.62624e-05 0.014758 1 0 SDHAP1 0 broad.mit.edu 37 3 195711343 195711344 + RNA INS - - T TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr3:195711343_195711344insT ENST00000427841.1 - 0 585 NR_003264.2 AAAGACTTCTCTGTGAGCTTTG 0.381 4 6 --- --- --- --- RP11-122F24.1 0 broad.mit.edu 37 5 7045029 7045029 + RNA DEL T T - TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr5:7045029delT ENST00000512838.1 + 0 154 tctttctttcttttttttttt 0.463 2 4 --- --- --- --- RP11-521C20.2 0 broad.mit.edu 37 15 40369522 40369529 + RNA DEL GGAAGGAA GGAAGGAA - TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr15:40369522_40369529delGGAAGGAA ENST00000560376.1 - 0 47 agggatggagggaaggaaggaaggaagg 0.476 2 4 --- --- --- --- BFAR 51283 broad.mit.edu 37 16 14761616 14761617 + Frame_Shift_Del DEL TT TT - TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr16:14761616_14761617delTT ENST00000261658.2 + 8 1562_1563 c.1285_1286delTT c.(1285-1287)tfs p.F429fs BFAR_ENST00000426842.2_Frame_Shift_Del_p.F301fs|BFAR_ENST00000563971.1_Frame_Shift_Del_p.F304fs|BFAR_ENST00000563082.1_3'UTR NM_016561.2 NP_057645.1 Q9NZS9 BFAR_HUMAN bifunctional apoptosis regulator 429 anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 11 GGCCCTGTACTTTAACCCAATT 0.495 9 247 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81201441 81201441 + RNA DEL G G - rs35726804 TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr16:81201441delG ENST00000533478.1 - 0 1149 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 tctgcaagatggggggggaaa 0.567 6 1 --- --- --- --- FAM27L 284123 broad.mit.edu 37 17 21825841 21825842 + RNA DEL TG TG - TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr17:21825841_21825842delTG ENST00000426869.3 + 0 278 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) tcggtttgtatgtgtgtgtgtg 0.500 4 6 --- --- --- ---