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 DLGAP1 9229 broad.mit.edu 37 18 3879613 3879613 + Silent SNP C C T TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr18:3879613C>T ENST00000315677.3 - 4 1051 c.456G>A c.(454-456)tcG>tcA p.S152S DLGAP1_ENST00000584874.1_Silent_p.S152S|DLGAP1_ENST00000581527.1_Silent_p.S152S|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Silent_p.S152S NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 152 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) CCAGGGAGTGCGACTTGGTGA 0.687000 4 181 0 0 1 0 0 BBS7 0 broad.mit.edu 37 4 122770040 122770040 + Missense_Mutation SNP C C T TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr4:122770040C>T ENST00000264499.4 - 9 1076 c.893G>A c.(892-894)gGa>gAa p.G298E BBS7_ENST00000506636.1_Missense_Mutation_p.G298E NM_176824.2 NP_789794.1 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 298 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 GCTGTCTTTTCCTACACAACC 0.318000 Bardet-Biedl syndrome 26 58 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 10 221 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157665945 157665945 + Silent SNP C C T TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr1:157665945C>T ENST00000368184.3 - 7 1308 c.1017G>A c.(1015-1017)ctG>ctA p.L339L FCRL3_ENST00000368186.5_Silent_p.L339L|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 339 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) GCTCTGCCAACAGGGAACGCT 0.522000 26 70 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119810267 119810267 + Missense_Mutation SNP G G A TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr4:119810267G>A ENST00000307142.4 + 1 272 c.76G>A c.(76-78)Gag>Aag p.E26K SYNPO2_ENST00000429713.2_Missense_Mutation_p.E26K|SYNPO2_ENST00000448416.2_Missense_Mutation_p.E26K|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E26K NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 26 PDZ. nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGGTGGCAAGGAGCAGAAGCA 0.517000 35 65 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039406 11039406 + RNA SNP T T C rs8134740 by1000genomes TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr21:11039406T>C ENST00000470054.1 - 0 797 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) TCATTAGAAATCTGTTTTTCC 0.299000 15 116 0 0 1 0 0 SDHAP3 0 broad.mit.edu 37 5 1593264 1593264 + RNA SNP C C T rs111700178 by1000genomes TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr5:1593264C>T ENST00000436493.2 - 0 361 AGGGCACATGCCTGACCAAAG 0.557000 4 57 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr20:29628278G>A ENST00000278882.3 + 6 660 c.280G>A c.(280-282)Gca>Aca p.A94T FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGCAATGAAGCAGGGGACAT 0.373000 6 163 0 0 1 0 0 HLA-DRB6 0 broad.mit.edu 37 6 32522722 32522722 + RNA SNP C C A rs114905475 by1000genomes TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr6:32522722C>A ENST00000411500.1 - 0 484 NR_001298.1 TGGGTCTTTGCAGGATACACA 0.488000 3 30 0.00909568 0.00909568 1 1 0 PRAMEF2 65122 broad.mit.edu 37 1 12920020 12920020 + Missense_Mutation SNP T T C rs3204810 TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr1:12920020T>C ENST00000240189.2 + 3 847 c.760T>C c.(760-762)Tgg>Cgg p.W254R NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 254 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACTCGAGGGATGGTTAGTCAC 0.438000 7 150 0 0 1 0 0 HELQ 113510 broad.mit.edu 37 4 84347206 84347206 + Missense_Mutation SNP T T A TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr4:84347206T>A ENST00000295488.3 - 14 2878 c.2716A>T c.(2716-2718)Att>Ttt p.I906F HELQ_ENST00000510985.1_Missense_Mutation_p.I839F NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 906 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 ACTCCAAGAATGGCAGCTACA 0.388000 Other identified genes with known or suspected DNA repair function 12 154 0 0 1 0 0 PTK7 0 broad.mit.edu 37 6 43109515 43109515 + Silent SNP G G A TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr6:43109515G>A ENST00000230419.4 + 11 1949 c.1728G>A c.(1726-1728)ccG>ccA p.P576P PTK7_ENST00000352931.2_Silent_p.P576P|PTK7_ENST00000481273.1_Silent_p.P584P|PTK7_ENST00000349241.2_Silent_p.P446P|PTK7_ENST00000345201.2_Silent_p.P536P NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 576 Ig-like C2-type 6. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CCAACGGGCCGCAGGGCCAGA 0.652000 5 165 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 5 103 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 76 0 0 1 0 0 CKM 1158 broad.mit.edu 37 19 45810034 45810034 + Missense_Mutation SNP C C T TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr19:45810034C>T ENST00000221476.3 - 8 1294 c.1120G>A c.(1120-1122)Gac>Aac p.D374N NM_001824.4 NP_001815.2 P06732 KCRM_HUMAN creatine kinase, muscle 374 creatine metabolic process cytosol ATP binding|creatine kinase activity cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2) 17 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) ATCATGTCGTCAATGGACTGG 0.612000 6 249 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137623480 137623480 + Missense_Mutation SNP C C T TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr9:137623480C>T ENST00000371817.3 + 8 1717 c.1303C>T c.(1303-1305)Ccg>Tcg p.P435S NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 435 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GCCGGGAATGCCGGCGAACCA 0.647000 4 121 0 0 1 0 0 DEPDC1B 55789 broad.mit.edu 37 5 59982897 59982897 + Missense_Mutation SNP C C T TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr5:59982897C>T ENST00000265036.5 - 2 273 c.206G>A c.(205-207)cGc>cAc p.R69H DEPDC1B_ENST00000453022.2_Missense_Mutation_p.R69H|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.R42H NM_018369.2 NP_060839.2 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B 69 DEP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2) 17 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) CGTTTGTTTGCGGGTCACTTC 0.473000 4 194 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 9 15 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129221571 129221571 + Missense_Mutation SNP G G A TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr3:129221571G>A ENST00000296266.3 + 21 2738 c.2546G>A c.(2545-2547)cGc>cAc p.R849H IFT122_ENST00000507564.1_Missense_Mutation_p.R790H|IFT122_ENST00000347300.2_Missense_Mutation_p.R739H|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000440957.2_Missense_Mutation_p.R589H|IFT122_ENST00000504021.1_Missense_Mutation_p.R674H|IFT122_ENST00000431818.2_Missense_Mutation_p.R648H|IFT122_ENST00000348417.2_Missense_Mutation_p.R798H|IFT122_ENST00000349441.2_Missense_Mutation_p.R687H NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 798 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 GACATCGCCCGCAAACTGGAC 0.597000 4 172 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 65005558 65005558 + Silent SNP G G A TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr16:65005558G>A ENST00000394156.3 - 11 2019 c.1566C>T c.(1564-1566)gcC>gcT p.A522A CDH11_ENST00000566827.1_Silent_p.A396A|CDH11_ENST00000268603.4_Silent_p.A522A P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 522 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TTGGTCCATTGGCCGTGTCAT 0.413000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 4 60 0 0 1 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74904577 74904577 + Missense_Mutation SNP G G A TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr11:74904577G>A ENST00000289575.5 + 9 1785 c.1390G>A c.(1390-1392)Ggc>Agc p.G464S SLCO2B1_ENST00000531756.1_Missense_Mutation_p.G209S|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.G348S|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.G320S|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G442S|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.G237S|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.G237S NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 464 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity p.G464S(1) breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) CTTCTTTATCGGCTGCTCCAG 0.627000 10 17 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8791970 8791970 + Silent SNP G G A TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr17:8791970G>A ENST00000447110.1 - 10 1258 c.1134C>T c.(1132-1134)tcC>tcT p.S378S PIK3R5_ENST00000581552.1_Silent_p.S378S|PIK3R5_ENST00000584803.1_Silent_p.S378S NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 378 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CTGAGACAAAGGAAGTCAGCA 0.652000 10 34 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 8 101 0 0 1 0 0 ANO8 57719 broad.mit.edu 37 19 17441651 17441651 + Missense_Mutation SNP G G A TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr19:17441651G>A ENST00000159087.4 - 8 1137 c.979C>T c.(979-981)Cgc>Tgc p.R327C NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 327 chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 AACTGGGGGCGTGGCTCCTCC 0.612000 69 131 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81110848 81110848 + Silent SNP C C T TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr12:81110848C>T ENST00000228644.3 + 1 158 c.6C>T c.(4-6)gaC>gaT p.D2D NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 2 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 GCAGGATGGACGTGATGGATG 0.642000 8 49 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678988 100678988 + Missense_Mutation SNP G G A TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr7:100678988G>A ENST00000306151.4 + 3 4355 c.4291G>A c.(4291-4293)Gct>Act p.A1431T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1431 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.A1431T(1) 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) GACCACTTCTGCTGAAGCCAC 0.488000 8 580 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803581 142803581 + RNA DEL A A - rs145354541 TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr1:142803581delA ENST00000423385.1 - 0 1384 TCATAGATTTAAAAAATTATG 0.274 8 167 --- --- --- --- RPTN 126638 broad.mit.edu 37 1 152127881 152127884 + Frame_Shift_Del DEL TGTC TGTC - TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr1:152127881_152127884delTGTC ENST00000316073.3 - 3 1755_1758 c.1691_1694delGACA c.(1690-1695)aafs p.RQ564fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 564 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 GCTCTGGCCTTGTCTGTCTGTCTG 0.485 7 1101 --- --- --- --- AC018730.1 0 broad.mit.edu 37 2 105440965 105440966 + RNA INS - - TGG rs150937258 by1000genomes TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr2:105440965_105440966insTGG ENST00000458253.1 - 0 147 AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000454729.1_RNA|AC018730.1_ENST00000413121.1_RNA|AC018730.1_ENST00000443988.1_RNA gatggtggtgatggtggtggtg 0.569 2 4 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195392917 195392917 + RNA DEL T T - TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr3:195392917delT ENST00000445430.1 + 0 647 CTTCTTGCCCTTTTTTTTTCT 0.418 2 4 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140811064 140811069 + In_Frame_Del DEL TGCTGC TGCTGC - rs71855026 TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr4:140811064_140811069delTGCTGC ENST00000509479.2 - 2 2377_2382 c.1521_1526delGCAGCA c.(1519-1527)caa>ca p.QQQ507del MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del|MAML3_ENST00000398940.1_Splice_Site_p.37_splice NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 506 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TGAGtgctgttgctgctgctgctgct 0.515 17 126 --- --- --- --- CAMSAP1 157922 broad.mit.edu 37 9 138715799 138715800 + Frame_Shift_Ins INS - - T rs148250832 byFrequency TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr9:138715799_138715800insT ENST00000389532.4 - 10 1460_1461 c.1396_1397insA c.(1396-1398)cagfs p.Q466fs CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 466 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) GACTCACCTGGTTTTTTTTTCT 0.460 2 4 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr10:103919000_103919002delAGC ENST00000405356.1 + 6 893_895 c.658_660delAGC c.(658-660)del p.S227del NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 227 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) tagcagcagtagcagcagcagca 0.517 7 223 --- --- --- --- C11orf35 256329 broad.mit.edu 37 11 555462 555462 + Frame_Shift_Del DEL A A - TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr11:555462delA ENST00000329451.3 - 13 1678 c.1616delT c.(1615-1617)tcfs p.F539fs NM_173573.2 NP_775844.2 Q8IXW0 CK035_HUMAN chromosome 11 open reading frame 35 539 Pro-rich. NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCGCGCGTGGAAGAGCTTCCC 0.781 2 4 --- --- --- --- C17orf97 400566 broad.mit.edu 37 17 263586 263645 + In_Frame_Del DEL GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC - rs71369083 byFrequency TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr17:263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC ENST00000360127.6 + 2 968_1027 c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC c.(952-1011)del p.DPEALKGFHPDPKALKGFHP318del C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 348 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. p.G334G(4)|p.P327P(1) breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 TTTCCACACTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGG 0.681 24 79 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056605 56056607 + In_Frame_Del DEL TGC TGC - rs61731354 byFrequency TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr17:56056605_56056607delTGC ENST00000584396.1 - 5 1105_1107 c.1017_1019delGCA c.(1015-1020)caa>ca p.QQ343del VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 352 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 ttgttgttgttgctgctgctgct 0.463 8 209 --- --- --- --- CTC-559E9.6 0 broad.mit.edu 37 19 19944259 19944260 + RNA DEL GT GT - TCGA-E8-A438-01A-11D-A23U-08 TCGA-E8-A438-10B-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4d31231-1d29-49cd-98d7-a658b3a6460f 01117f3f-623d-4fb0-b04f-0601015e88a3 g.chr19:19944259_19944260delGT ENST00000591884.1 + 0 393 TGGTAAAAACGTGTGTGTGTGT 0.426 9 161 --- --- --- ---