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 TBC1D1 23216 broad.mit.edu 37 4 38016200 38016200 + Missense_Mutation SNP C C G TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr4:38016200C>G ENST00000261439.4 + 3 843 c.488C>G c.(487-489)tCc>tGc p.S163C TBC1D1_ENST00000508802.1_Missense_Mutation_p.S163C NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 163 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CACTGCCCGTCCGAGTTCGAC 0.622000 28 120 0 0 2.90539e-05 0 0 CSF2RB 1439 broad.mit.edu 37 22 37333582 37333582 + Missense_Mutation SNP C C T TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr22:37333582C>T ENST00000262825.5 + 14 1967 c.1750C>T c.(1750-1752)Cac>Tac p.H584Y CSF2RB_ENST00000536485.1_Missense_Mutation_p.H525Y|CSF2RB_ENST00000406230.1_Missense_Mutation_p.H584Y|CSF2RB_ENST00000403662.3_Missense_Mutation_p.H578Y NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 578 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) TGCCGCCTCCCACACACCTGA 0.662000 7 18 0 0 5.18039e-06 0 0 LRP5 4041 broad.mit.edu 37 11 68201226 68201226 + Missense_Mutation SNP G G C TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr11:68201226G>C ENST00000294304.7 + 18 4026 c.3920G>C c.(3919-3921)cGg>cCg p.R1307P NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1307 LDL-receptor class A 2. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCCTGCGCGCGGGGTCAGTGT 0.711000 3 43 0 0 1.23904e-05 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 5 440 0 0 1.23904e-05 0 0 ZNF577 84765 broad.mit.edu 37 19 52376484 52376484 + Silent SNP C C A TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr19:52376484C>A ENST00000420592.1 - 6 1915 c.582G>T c.(580-582)cgG>cgT p.R194R ZNF577_ENST00000301399.5_Silent_p.R253R|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Silent_p.R194R|ZNF577_ENST00000412216.1_Intron Q9BSK1 ZN577_HUMAN zinc finger protein 577 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GCCGGCACTTCCGGCTGAAGG 0.498000 12 29 2.80697e-09 3.46735e-07 6.40141e-05 1 0 AP005901.1 0 broad.mit.edu 37 18 15323347 15323347 + RNA SNP T T C TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr18:15323347T>C ENST00000455308.2 - 0 501 NR_027417.1 CCAATAAAAGTGGTGTGTGGC 0.303000 3 8 0 0 6.4e-05 0 0 DNM1P46 0 broad.mit.edu 37 15 100332133 100332133 + RNA SNP C C T TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr15:100332133C>T ENST00000341853.1 - 0 2058 NR_003260.1 GGAGCCAATGCCCAGGAGGAG 0.592000 5 41 0 0 1.23904e-05 0 0 SAMD1 90378 broad.mit.edu 37 19 14199308 14199308 + Missense_Mutation SNP A A G TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr19:14199308A>G ENST00000533683.2 - 5 1507 c.1220T>C c.(1219-1221)cTg>cCg p.L407P NM_138352.1 NP_612361.1 Q6SPF0 SAMD1_HUMAN sterile alpha motif domain containing 1 513 cytoplasm|extracellular region endometrium(3) 3 Renal(1328;0.00183)|Hepatocellular(1079;0.00826) GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199) GTAGATTTTCAGGGCTGGCCC 0.582000 3 67 0 0 6.4e-05 0 0 SLC15A1 6564 broad.mit.edu 37 13 99339859 99339859 + Silent SNP C C G rs146831294 TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr13:99339859C>G ENST00000376503.5 - 21 1858 c.1803G>C c.(1801-1803)acG>acC p.T601T NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 601 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) ATTCCAATCCCGTGACAGAGA 0.423000 4 152 0 0 2.56e-06 0 0 PDS5A 23244 broad.mit.edu 37 4 39910084 39910084 + Silent SNP G G T TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr4:39910084G>T ENST00000303538.8 - 11 1703 c.1164C>A c.(1162-1164)gcC>gcA p.A388A PDS5A_ENST00000503396.1_Silent_p.A388A NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 388 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 GGTCCCTCTTGGCAGCTGTTA 0.358000 96 208 3.61922e-38 4.59152e-36 0.000147903 1 0 GPAT2 150763 broad.mit.edu 37 2 96691942 96691942 + Missense_Mutation SNP A A G TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr2:96691942A>G ENST00000434632.1 - 12 1603 c.1144T>C c.(1144-1146)Ttt>Ctt p.F382L GPAT2_ENST00000453542.1_Missense_Mutation_p.F311L|GPAT2_ENST00000359548.4_Missense_Mutation_p.F382L|GPAT2_ENST00000377137.3_Missense_Mutation_p.F382L Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, mitochondrial 382 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 TGCAGGGAAAAGGGCTGAGCT 0.647000 3 65 0 0 6.4e-05 0 0 SLC25A38 54977 broad.mit.edu 37 3 39433012 39433012 + Silent SNP T T C TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr3:39433012T>C ENST00000273158.4 + 4 734 c.357T>C c.(355-357)caT>caC p.H119H NM_017875.2 NP_060345.2 Q96DW6 S2538_HUMAN solute carrier family 25, member 38 119 erythrocyte differentiation|heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TGCGAGGCCATCCCCCAACCG 0.542000 4 280 0 0 3.59834e-05 0 0 ZNF580 51157 broad.mit.edu 37 19 56153901 56153901 + Silent SNP C C G TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr19:56153901C>G ENST00000543039.1 + 1 484 c.27C>G c.(25-27)ccC>ccG p.P9P ZNF580_ENST00000545125.1_Silent_p.P9P|ZNF581_ENST00000587252.1_Intron|ZNF580_ENST00000325333.5_Silent_p.P9P NM_016202.2 NP_057286.1 Q9UK33 ZN580_HUMAN zinc finger protein 580 9 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1)|upper_aerodigestive_tract(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CGCGGCCACCCCACCCTCGGT 0.647000 3 36 0 0 6.4e-05 0 0 FBXO42 54455 broad.mit.edu 37 1 16577866 16577866 + Missense_Mutation SNP G G C TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr1:16577866G>C ENST00000375592.3 - 10 1669 c.1453C>G c.(1453-1455)Cga>Gga p.R485G NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 485 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) GATCCTCGTCGGGGGGCCAAA 0.483000 4 71 0 0 1.23904e-05 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 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 13 30 0 0 0.00010058 0 0 PLXNB3 5365 broad.mit.edu 37 X 153039673 153039673 + Missense_Mutation SNP G G C TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chrX:153039673G>C ENST00000538966.1 + 22 3892 c.3621G>C c.(3619-3621)gaG>gaC p.E1207D PLXNB3_ENST00000538776.1_Missense_Mutation_p.E837D|PLXNB3_ENST00000538282.1_Missense_Mutation_p.E794D|PLXNB3_ENST00000361971.5_Missense_Mutation_p.E1184D NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 1184 IPT/TIG 4. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) TCAGCAAGGAGGAGGTGCGCG 0.711000 4 13 0 0 1.23904e-05 0 0 PCDH11X 27328 broad.mit.edu 37 X 91131979 91131979 + Missense_Mutation SNP C C G TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chrX:91131979C>G ENST00000373094.1 + 2 1585 c.740C>G c.(739-741)cCa>cGa p.P247R PCDH11X_ENST00000406881.1_Missense_Mutation_p.P247R|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P247R|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P247R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P247R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P247R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P247R|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P247R|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P247R NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 247 Cadherin 2. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GACAACCACCCAGTCTTTAAG 0.433000 4 127 0 0 2.56e-06 0 0 C1orf110 339512 broad.mit.edu 37 1 162824952 162824952 + Missense_Mutation SNP G G C rs150783672 by1000genomes TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr1:162824952G>C ENST00000367912.1 - 4 683 c.509C>G c.(508-510)cCc>cGc p.P170R C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Missense_Mutation_p.P166R|C1orf110_ENST00000367910.1_Missense_Mutation_p.P171R Q86UF4 CA110_HUMAN chromosome 1 open reading frame 110 171 endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 12 GCCCTTGCTGGGGTCTACGTC 0.468000 4 220 0 0 3.59834e-05 0 0 NXF3 56000 broad.mit.edu 37 X 102333522 102333522 + Missense_Mutation SNP G G C TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chrX:102333522G>C ENST00000395065.3 - 17 1518 c.1417C>G c.(1417-1419)Cgg>Ggg p.R473G NXF3_ENST00000425644.1_Missense_Mutation_p.R145G|NXF3_ENST00000497850.1_5'UTR NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 473 NTF2. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding p.R473R(1) NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 ATGAAGGTCCGGGTGAAGGCG 0.542000 4 188 0 0 3.59834e-05 0 0 DENND2D 79961 broad.mit.edu 37 1 111741363 111741363 + Splice_Site SNP C C G TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr1:111741363C>G ENST00000357640.4 - 3 474 c.243_splice c.e3-1 p.R82_splice DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Splice_Site_p.R79_splice NM_024901.3 NP_079177.2 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 82 UDENN. breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) CAGGTTCTCCCGCTATAAGGC 0.552000 3 38 0 0 6.4e-05 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79069817 79069817 + Missense_Mutation SNP C C G TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr15:79069817C>G ENST00000388820.4 - 9 1646 c.1436G>C c.(1435-1437)gGg>gCg p.G479A ADAMTS7_ENST00000566303.1_Intron NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 479 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 AGAGTAGGCCCCGTACTGGAG 0.652000 3 16 0 0 6.4e-05 0 0 SDHA 6389 broad.mit.edu 37 5 230998 230998 + Missense_Mutation SNP G G C rs1126413 TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr5:230998G>C ENST00000264932.6 + 7 893 c.778G>C c.(778-780)Ggg>Cgg p.G260R SDHA_ENST00000504309.1_Missense_Mutation_p.G260R|SDHA_ENST00000510361.1_Missense_Mutation_p.G212R NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 260 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) CAGAGGCTACGGGCGCACCTA 0.602000 Familial Paragangliomas 3 61 0 0 6.4e-05 0 0 PFKP 5214 broad.mit.edu 37 10 3155654 3155654 + Missense_Mutation SNP G G A TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr10:3155654G>A ENST00000381075.2 + 15 1515 c.1291G>A c.(1291-1293)Gac>Aac p.D431N PFKP_ENST00000381125.4_Missense_Mutation_p.D439N NM_001242339.1 NP_001229268.1 Q01813 K6PP_HUMAN phosphofructokinase, platelet 439 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) GGGCATTGCCGACGGCCACAG 0.617000 10 21 0 0 3.86212e-05 0 0 RTCA 8634 broad.mit.edu 37 1 100752669 100752669 + Missense_Mutation SNP G G C TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr1:100752669G>C ENST00000370128.4 + 10 1078 c.909G>C c.(907-909)atG>atC p.M303I RTCA_ENST00000260563.4_Missense_Mutation_p.M316I NM_003729.3 NP_003720.1 O00442 RTC1_HUMAN RNA 3'-terminal phosphate cyclase 303 RNA processing mitochondrion|nucleoplasm ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity TTGTTTTCATGGCATTAGCCA 0.338000 3 80 0 0 6.4e-05 0 0 CDR2 1039 broad.mit.edu 37 16 22360757 22360757 + Missense_Mutation SNP C C T TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr16:22360757C>T ENST00000268383.2 - 4 656 c.349G>A c.(349-351)Gaa>Aaa p.E117K NM_001802.1 NP_001793.1 Q01850 CDR2_HUMAN cerebellar degeneration-related protein 2, 62kDa 117 nucleus protein binding endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 GBM - Glioblastoma multiforme(48;0.0188) TCAATCGTTTCAGTCAGGCTG 0.512000 10 142 0 0 6.40141e-05 0 0 REEP3 221035 broad.mit.edu 37 10 65379435 65379435 + Missense_Mutation SNP G G C TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr10:65379435G>C ENST00000373758.4 + 7 769 c.586G>C c.(586-588)Gac>Cac p.D196H REEP3_ENST00000298249.4_Missense_Mutation_p.D181H NM_001001330.2 NP_001001330.1 Q6NUK4 REEP3_HUMAN receptor accessory protein 3 196 integral to membrane endometrium(1)|large_intestine(2)|lung(3) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) TCCACTGAAAGACGGAGATGA 0.428000 3 15 0 0 2.56e-06 0 0 POTEG 404785 broad.mit.edu 37 14 19553736 19553736 + Missense_Mutation SNP C C G TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr14:19553736C>G ENST00000409832.3 + 1 372 c.320C>G c.(319-321)cCc>cGc p.P107R NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 107 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 CACTGCTTCCCCTGCTGCAGG 0.602000 6 451 0 0 3.59834e-05 0 0 STOML3 0 broad.mit.edu 37 13 39541133 39541133 + Silent SNP G G A TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr13:39541133G>A ENST00000379631.4 - 7 1049 c.705C>T c.(703-705)tcC>tcT p.S235S STOML3_ENST00000423210.1_Silent_p.S226S NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 235 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) CCAGCACCATGGAGGCTGACT 0.468000 9 37 0 0 1.12685e-05 0 0 TRIM5 85363 broad.mit.edu 37 11 5686237 5686237 + Silent SNP G G C TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr11:5686237G>C ENST00000305836.5 - 8 1586 c.1284C>G c.(1282-1284)ccC>ccG p.P428P TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380034.3_Silent_p.P428P|TRIM5_ENST00000380027.1_Intron Q9C035 TRIM5_HUMAN tripartite motif containing 5 428 B30.2/SPRY. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) TCACAGAGAGGGGCACAATGA 0.418000 3 70 0 0 6.4e-05 0 0 MUC17 140453 broad.mit.edu 37 7 100677148 100677148 + Silent SNP G G C TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr7:100677148G>C ENST00000306151.4 + 3 2515 c.2451G>C c.(2449-2451)ccG>ccC p.P817P NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 817 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCATCACACCGGTGACCAGTC 0.488000 6 509 0 0 8.12818e-05 0 0 CAND1 55832 broad.mit.edu 37 12 67704013 67704013 + Missense_Mutation SNP C C G TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr12:67704013C>G ENST00000545606.1 + 13 3714 c.3277C>G c.(3277-3279)Cta>Gta p.L1093V NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 1093 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) GTACACACTTCTAGACAGTTG 0.343000 3 59 0 0 6.4e-05 0 0 DYRK4 8798 broad.mit.edu 37 12 4708955 4708955 + Splice_Site SNP G G A TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr12:4708955G>A ENST00000540757.2 + 8 941 c.e8+1 DYRK4_ENST00000543431.1_Splice_Site|DYRK4_ENST00000010132.5_Splice_Site NM_003845.1 NP_003836.1 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) CACCAGAAAGGTGAGCCCCAT 0.453000 18 62 0 0 3.10358e-05 0 0 KCNU1 157855 broad.mit.edu 37 8 36698048 36698048 + Missense_Mutation SNP G G A TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr8:36698048G>A ENST00000399881.3 + 15 1623 c.1586G>A c.(1585-1587)cGt>cAt p.R529H NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 529 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CTGACCCAACGTCTCTCTGAT 0.403000 8 15 0 0 5.18039e-06 0 0 GALNT2 2590 broad.mit.edu 37 1 230203102 230203102 + Frame_Shift_Del DEL G G - TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr1:230203102delG ENST00000366672.4 + 1 147 c.75delG c.(73-75)tcfs p.S25fs GALNT2_ENST00000541865.1_5'UTR|GALNT2_ENST00000543760.1_Intron NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 25 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) ACATGTACTCGGGGGGCGGCT 0.771 2 4 --- --- --- --- snoU13 0 broad.mit.edu 37 4 53376246 53376246 + RNA DEL A A - TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr4:53376246delA ENST00000459377.1 + 0 68 gtcaccctcgaaccttgtggc 0.333 6 11 --- --- --- --- FAM83A 84985 broad.mit.edu 37 8 124219784 124219784 + Frame_Shift_Del DEL G G - TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr8:124219784delG ENST00000518448.1 + 5 3175 c.1161delG c.(1159-1161)ccfs p.P387fs FAM83A_ENST00000318462.6_Frame_Shift_Del_p.P387fs|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000522648.1_Intron Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A 387 Pro-rich. breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) ACCTCTCCCCGCGGCCCCACG 0.766 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085874 11085876 + RNA DEL CAT CAT - rs28573369 TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr21:11085874_11085876delCAT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccaccatcaccatcaccaccacc 0.576 3 3 --- --- --- ---