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 KDR 3791 broad.mit.edu 37 4 55946268 55946268 + Missense_Mutation SNP C C T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr4:55946268C>T ENST00000263923.4 - 30 4206 c.3911G>A c.(3910-3912)gGc>gAc p.G1304D RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1304 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GGACTGGTAGCCGCTTGTCTG 0.507000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 5 111 0 0 0.248553 0 0 CRYBB3 1417 broad.mit.edu 37 22 25599797 25599797 + Missense_Mutation SNP C C T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr22:25599797C>T ENST00000215855.2 + 4 342 c.262C>T c.(262-264)Cgc>Tgc p.R88C CRYBB3_ENST00000404334.1_Missense_Mutation_p.R88C NM_004076.3 NP_004067.1 P26998 CRBB3_HUMAN crystallin, beta B3 88 Beta/gamma crystallin 'Greek key' 2. visual perception protein binding|structural constituent of eye lens large_intestine(2)|lung(2)|prostate(1) 5 GGATTATCCTCGCTGGGATGC 0.577000 33 193 0 0 0.812448 0 0 LAMA2 3908 broad.mit.edu 37 6 129824263 129824263 + Silent SNP C C T rs142445491 TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr6:129824263C>T ENST00000421865.2 + 60 8434 c.8385C>T c.(8383-8385)acC>acT p.T2795T NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2795 Laminin G-like 4. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AAGTAAGAACCGAAGCTGAAT 0.403000 13 80 0 0 0.500413 0 0 GPR112 139378 broad.mit.edu 37 X 135485423 135485423 + Missense_Mutation SNP G G A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chrX:135485423G>A ENST00000394143.1 + 22 8887 c.8596G>A c.(8596-8598)Gca>Aca p.A2866T GPR112_ENST00000287534.4_Missense_Mutation_p.A2619T|GPR112_ENST00000412101.1_Missense_Mutation_p.A2661T|GPR112_ENST00000394141.1_Missense_Mutation_p.A2661T|GPR112_ENST00000370652.1_Missense_Mutation_p.A2866T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2866 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.A2866T(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TATCATGGTGGCAATCACAGT 0.488000 3 24 0 0 0.150653 0 0 ANKFN1 162282 broad.mit.edu 37 17 54558083 54558083 + Silent SNP G G A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr17:54558083G>A ENST00000566473.2 + 16 2004 c.2004G>A c.(2002-2004)gtG>gtA p.V668V ANKFN1_ENST00000318698.2_Silent_p.V668V Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 668 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 TGGAAAGTGTGGATCATACTT 0.413000 13 116 0 0 0.435327 0 0 CLTC 1213 broad.mit.edu 37 17 57733350 57733350 + Missense_Mutation SNP G G A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr17:57733350G>A ENST00000269122.3 + 6 1205 c.931G>A c.(931-933)Gcc>Acc p.A311T CLTC_ENST00000393043.1_Missense_Mutation_p.A311T|CLTC_ENST00000579456.1_Intron NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 311 Globular terminal domain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity p.A311S(1) CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) ACCTCATGAAGCCACAGCTGG 0.378000 T """ALK, TFE3""" """ALCL, renal """ 15 51 0 0 0.479597 0 0 MYEOV2 150678 broad.mit.edu 37 2 241066272 241066272 + Missense_Mutation SNP A A G rs142104600 TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr2:241066272A>G ENST00000307266.3 - 5 466 c.467T>C c.(466-468)aTg>aCg p.M156T NM_138336.1 NP_612209.1 Q8WXC6 MYOV2_HUMAN myeloma overexpressed 2 0 breast(1)|lung(5)|pancreas(1) 7 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) TCTGGTAAACATTAGCGCCTC 0.537000 4 117 0 0 0.150653 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 3 47 0 0 0.115264 0 0 ZNF142 7701 broad.mit.edu 37 2 219507559 219507559 + Missense_Mutation SNP C C T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr2:219507559C>T ENST00000411696.2 - 7 4459 c.3680G>A c.(3679-3681)cGc>cAc p.R1227H ZNF142_ENST00000449707.1_Missense_Mutation_p.R1227H P52746 ZN142_HUMAN zinc finger protein 142 1227 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GCAGGGGATGCGGCCAATGCC 0.577000 23 140 0 0 0.654019 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 4 45 0 0 0.150653 0 0 SSX5 6758 broad.mit.edu 37 X 48054234 48054234 + Silent SNP G G A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chrX:48054234G>A ENST00000311798.1 - 4 301 c.249C>T c.(247-249)gcC>gcT p.A83A SSX5_ENST00000376923.1_Silent_p.A42A|SSX5_ENST00000347757.1_Silent_p.A42A NM_021015.3 NP_066295.3 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 42 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1) 18 TTTTCTCCGAGGCTTTCATCT 0.388000 14 30 0 0 0.500413 0 0 NCDN 23154 broad.mit.edu 37 1 36028872 36028872 + Silent SNP G G T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr1:36028872G>T ENST00000373243.2 + 5 1838 c.1455G>T c.(1453-1455)ggG>ggT p.G485G NCDN_ENST00000373253.3_Silent_p.G468G|NCDN_ENST00000356090.4_Silent_p.G485G NM_014284.2 NP_055099.1 Q9UBB6 NCDN_HUMAN neurochondrin 485 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCAAGGAAGGGGCCCCCTCGC 0.627000 13 48 4.93089e-13 5.678e-13 0.457914 1 0 AC226119.5 0 broad.mit.edu 37 4 3954857 3954857 + RNA SNP C C A rs17410899 TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr4:3954857C>A ENST00000281228.8 - 0 141 FAM86EP_ENST00000313946.8_RNA AATATCCCGCCGCAGCTCAGA 0.488000 4 76 5.9392e-07 6.44827e-07 0.217242 1 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 46 0 0 0.150653 0 0 PDE6C 5146 broad.mit.edu 37 10 95405746 95405746 + Missense_Mutation SNP G G C TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr10:95405746G>C ENST00000371447.3 + 15 2015 c.1877G>C c.(1876-1878)gGt>gCt p.G626A NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 626 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) AGACTTCATGGTTCTTCTATT 0.403000 8 37 0 0 0.335167 0 0 MUC17 140453 broad.mit.edu 37 7 100681501 100681501 + Silent SNP C C T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr7:100681501C>T ENST00000306151.4 + 3 6868 c.6804C>T c.(6802-6804)agC>agT p.S2268S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2268 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) AAGGTACCAGCATACCAACTT 0.488000 42 270 0 0 0.840704 0 0 CYP19A1 0 broad.mit.edu 37 15 51507372 51507372 + Missense_Mutation SNP C C T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr15:51507372C>T ENST00000396402.1 - 8 1069 c.916G>A c.(916-918)Gca>Aca p.A306T CYP19A1_ENST00000559878.1_Missense_Mutation_p.A306T|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.A306T|CYP19A1_ENST00000396404.4_Missense_Mutation_p.A306T NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 306 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) TCAGGAGCTGCGATCAGCATT 0.403000 17 40 0 0 0.557998 0 0 EPB41L1 2036 broad.mit.edu 37 20 34766592 34766592 + Missense_Mutation SNP G G A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr20:34766592G>A ENST00000338074.2 + 5 649 c.488G>A c.(487-489)cGg>cAg p.R163Q EPB41L1_ENST00000441639.1_Missense_Mutation_p.R101Q|EPB41L1_ENST00000373946.3_Missense_Mutation_p.R132Q|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R163Q|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R66Q|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R101Q NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 163 FERM. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) AAGCAGATCCGGAGTGAGTGG 0.537000 30 123 0 0 0.804634 0 0 CCDC66 285331 broad.mit.edu 37 3 56627995 56627995 + Missense_Mutation SNP T T A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr3:56627995T>A ENST00000394672.3 + 10 1413 c.1343T>A c.(1342-1344)cTc>cAc p.L448H CCDC66_ENST00000436465.2_Missense_Mutation_p.L448H|CCDC66_ENST00000326595.7_Missense_Mutation_p.L414H NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 448 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) ATGACTGCTCTCTTGGACCCA 0.373000 18 76 0 0 0.575678 0 0 ZXDB 158586 broad.mit.edu 37 X 57619097 57619097 + Missense_Mutation SNP G G A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chrX:57619097G>A ENST00000374888.1 + 1 829 c.616G>A c.(616-618)Ggg>Agg p.G206R NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.G206R(2) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 CCAGCAGCCCGGGTGTCTGAT 0.711000 3 12 0 0 0.150653 0 0 SPTBN5 51332 broad.mit.edu 37 15 42162706 42162706 + Nonsense_Mutation SNP G G A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr15:42162706G>A ENST00000320955.6 - 30 5727 c.5500C>T c.(5500-5502)Cga>Tga p.R1834* NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1834 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TCGGTGTCTCGGAGCGCGTGG 0.662000 7 43 0 0 0.335167 0 0 GEMIN7 0 broad.mit.edu 37 19 45593388 45593388 + Missense_Mutation SNP A A G TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr19:45593388A>G ENST00000270257.4 + 3 263 c.16A>G c.(16-18)Aac>Gac p.N6D GEMIN7_ENST00000391951.2_Missense_Mutation_p.N6D|GEMIN7_ENST00000591747.1_Missense_Mutation_p.N6D|GEMIN7_ENST00000591607.1_Missense_Mutation_p.N6D|CTB-179K24.4_ENST00000586744.1_RNA|CTB-179K24.3_ENST00000586556.1_RNA NM_001007269.1|NM_001007270.1|NM_024707.2 NP_001007270.1|NP_001007271.1|NP_078983.1 Q9H840 GEMI7_HUMAN gem (nuclear organelle) associated protein 7 6 ncRNA metabolic process|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding endometrium(1)|kidney(1)|lung(4)|ovary(1) 7 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0131) AACTCCAGTGAACATTCCCGT 0.577000 35 134 0 0 0.827153 0 0 LAMB1 3912 broad.mit.edu 37 7 107580636 107580636 + Missense_Mutation SNP C C T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr7:107580636C>T ENST00000393561.1 - 23 3815 c.3631G>A c.(3631-3633)Gat>Aat p.D1211N LAMB1_ENST00000222399.6_Missense_Mutation_p.D1187N P07942 LAMB1_HUMAN laminin, beta 1 1187 Domain II. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATGATCACATCCCAGAGAGCA 0.572000 11 94 0 0 0.361761 0 0 FAM8A1 51439 broad.mit.edu 37 6 17605181 17605181 + Missense_Mutation SNP A A G TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr6:17605181A>G ENST00000259963.3 + 3 933 c.878A>G c.(877-879)gAt>gGt p.D293G NM_016255.2 NP_057339.1 Q9UBU6 FA8A1_HUMAN family with sequence similarity 8, member A1 293 RDD. integral to membrane endometrium(1)|large_intestine(2)|lung(3) 6 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.143) all cancers(50;0.176)|Epithelial(50;0.204) GAAGAAATAGATGAAGACACA 0.323000 8 33 0 0 0.278610 0 0 KCNB1 3745 broad.mit.edu 37 20 48098569 48098569 + Missense_Mutation SNP C C T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr20:48098569C>T ENST00000371741.4 - 1 615 c.449G>A c.(448-450)cGt>cAt p.R150H NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 150 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTCGGCCTCACGCTTGAGCTC 0.577000 7 97 0 0 0.248553 0 0 CORO1B 57175 broad.mit.edu 37 11 67205932 67205932 + Missense_Mutation SNP G G T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr11:67205932G>T ENST00000393893.1 - 12 1488 c.1385C>A c.(1384-1386)gCc>gAc p.A462D CORO1B_ENST00000341356.5_Missense_Mutation_p.A462D|CORO1B_ENST00000539724.1_5'UTR NM_001018070.2 NP_001018080.1 Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 462 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) CGCCCTCAGGGCCCGCAGCTC 0.682000 7 59 2.7689e-08 3.09465e-08 0.248553 1 0 EIF4G3 8672 broad.mit.edu 37 1 21205816 21205816 + Splice_Site SNP C C G TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr1:21205816C>G ENST00000602326.1 - 18 3055 c.2472_splice c.e18+1 p.T824_splice EIF4G3_ENST00000374935.3_Splice_Site_p.T538_splice|EIF4G3_ENST00000374937.3_Splice_Site_p.T824_splice|EIF4G3_ENST00000400422.1_Splice_Site_p.T818_splice|EIF4G3_ENST00000536266.1_Splice_Site_p.T422_splice|EIF4G3_ENST00000264211.8_Splice_Site_p.T818_splice|EIF4G3_ENST00000537738.1_Splice_Site_p.T308_splice NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 818 MIF4G.|eIF3/EIF4A-binding (By similarity). interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity p.T824T(1)|p.T818T(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CTCTTCTTACCGTTACTAGAC 0.443000 15 70 0 0 0.479597 0 0 ZIC5 85416 broad.mit.edu 37 13 100617974 100617974 + Missense_Mutation SNP G G C TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr13:100617974G>C ENST00000267294.4 - 2 1882 c.1649C>G c.(1648-1650)cCc>cGc p.P550R NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 550 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GCAGTAGTAGGGCTTGTCACT 0.493000 19 81 0 0 0.539581 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 3 45 0 0 0.004672 0 0 KDR 3791 broad.mit.edu 37 4 55946268 55946268 + Missense_Mutation SNP C C T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr4:55946268C>T ENST00000263923.4 - 30 4206 c.3911G>A c.(3910-3912)gGc>gAc p.G1304D RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1304 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GGACTGGTAGCCGCTTGTCTG 0.507000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 5 111 0 0 0.001984 0 0 CRYBB3 1417 broad.mit.edu 37 22 25599797 25599797 + Missense_Mutation SNP C C T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr22:25599797C>T ENST00000215855.2 + 4 342 c.262C>T c.(262-264)Cgc>Tgc p.R88C CRYBB3_ENST00000404334.1_Missense_Mutation_p.R88C NM_004076.3 NP_004067.1 P26998 CRBB3_HUMAN crystallin, beta B3 88 Beta/gamma crystallin 'Greek key' 2. visual perception protein binding|structural constituent of eye lens large_intestine(2)|lung(2)|prostate(1) 5 GGATTATCCTCGCTGGGATGC 0.577000 33 193 0 0 0.005524 0 0 LAMA2 3908 broad.mit.edu 37 6 129824263 129824263 + Silent SNP C C T rs142445491 TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr6:129824263C>T ENST00000421865.2 + 60 8434 c.8385C>T c.(8383-8385)acC>acT p.T2795T NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2795 Laminin G-like 4. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AAGTAAGAACCGAAGCTGAAT 0.403000 13 80 0 0 0.004007 0 0 GPR112 139378 broad.mit.edu 37 X 135485423 135485423 + Missense_Mutation SNP G G A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chrX:135485423G>A ENST00000394143.1 + 22 8887 c.8596G>A c.(8596-8598)Gca>Aca p.A2866T GPR112_ENST00000287534.4_Missense_Mutation_p.A2619T|GPR112_ENST00000412101.1_Missense_Mutation_p.A2661T|GPR112_ENST00000394141.1_Missense_Mutation_p.A2661T|GPR112_ENST00000370652.1_Missense_Mutation_p.A2866T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2866 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.A2866T(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TATCATGGTGGCAATCACAGT 0.488000 3 24 0 0 0.009096 0 0 ANKFN1 162282 broad.mit.edu 37 17 54558083 54558083 + Silent SNP G G A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr17:54558083G>A ENST00000566473.2 + 16 2004 c.2004G>A c.(2002-2004)gtG>gtA p.V668V ANKFN1_ENST00000318698.2_Silent_p.V668V Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 668 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 TGGAAAGTGTGGATCATACTT 0.413000 13 116 0 0 0.016723 0 0 CLTC 1213 broad.mit.edu 37 17 57733350 57733350 + Missense_Mutation SNP G G A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr17:57733350G>A ENST00000269122.3 + 6 1205 c.931G>A c.(931-933)Gcc>Acc p.A311T CLTC_ENST00000393043.1_Missense_Mutation_p.A311T|CLTC_ENST00000579456.1_Intron NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 311 Globular terminal domain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity p.A311S(1) CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) ACCTCATGAAGCCACAGCTGG 0.378000 T """ALK, TFE3""" """ALCL, renal """ 15 51 0 0 0.003163 0 0 MYEOV2 150678 broad.mit.edu 37 2 241066272 241066272 + Missense_Mutation SNP A A G rs142104600 TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr2:241066272A>G ENST00000307266.3 - 5 466 c.467T>C c.(466-468)aTg>aCg p.M156T NM_138336.1 NP_612209.1 Q8WXC6 MYOV2_HUMAN myeloma overexpressed 2 0 breast(1)|lung(5)|pancreas(1) 7 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) TCTGGTAAACATTAGCGCCTC 0.537000 4 117 0 0 0.009096 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 3 47 0 0 0.004672 0 0 ZNF142 7701 broad.mit.edu 37 2 219507559 219507559 + Missense_Mutation SNP C C T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr2:219507559C>T ENST00000411696.2 - 7 4459 c.3680G>A c.(3679-3681)cGc>cAc p.R1227H ZNF142_ENST00000449707.1_Missense_Mutation_p.R1227H P52746 ZN142_HUMAN zinc finger protein 142 1227 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GCAGGGGATGCGGCCAATGCC 0.577000 23 140 0 0 0.018920 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 6 38 0 0 0.003080 0 0 SSX5 6758 broad.mit.edu 37 X 48054234 48054234 + Silent SNP G G A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chrX:48054234G>A ENST00000311798.1 - 4 301 c.249C>T c.(247-249)gcC>gcT p.A83A SSX5_ENST00000376923.1_Silent_p.A42A|SSX5_ENST00000347757.1_Silent_p.A42A NM_021015.3 NP_066295.3 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 42 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1) 18 TTTTCTCCGAGGCTTTCATCT 0.388000 14 30 0 0 0.004007 0 0 NCDN 23154 broad.mit.edu 37 1 36028872 36028872 + Silent SNP G G T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr1:36028872G>T ENST00000373243.2 + 5 1838 c.1455G>T c.(1453-1455)ggG>ggT p.G485G NCDN_ENST00000373253.3_Silent_p.G468G|NCDN_ENST00000356090.4_Silent_p.G485G NM_014284.2 NP_055099.1 Q9UBB6 NCDN_HUMAN neurochondrin 485 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCAAGGAAGGGGCCCCCTCGC 0.627000 13 48 4.93089e-13 5.86376e-13 0.020292 1 0 AC226119.5 0 broad.mit.edu 37 4 3954857 3954857 + RNA SNP C C A rs17410899 TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr4:3954857C>A ENST00000281228.8 - 0 141 FAM86EP_ENST00000313946.8_RNA AATATCCCGCCGCAGCTCAGA 0.488000 4 76 5.9392e-07 6.70064e-07 0.001168 1 0 PDE6C 5146 broad.mit.edu 37 10 95405746 95405746 + Missense_Mutation SNP G G C TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr10:95405746G>C ENST00000371447.3 + 15 2015 c.1877G>C c.(1876-1878)gGt>gCt p.G626A NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 626 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) AGACTTCATGGTTCTTCTATT 0.403000 8 37 0 0 0.006214 0 0 MUC17 140453 broad.mit.edu 37 7 100681501 100681501 + Silent SNP C C T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr7:100681501C>T ENST00000306151.4 + 3 6868 c.6804C>T c.(6802-6804)agC>agT p.S2268S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2268 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) AAGGTACCAGCATACCAACTT 0.488000 42 270 0 0 0.008740 0 0 CYP19A1 0 broad.mit.edu 37 15 51507372 51507372 + Missense_Mutation SNP C C T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr15:51507372C>T ENST00000396402.1 - 8 1069 c.916G>A c.(916-918)Gca>Aca p.A306T RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.A306T|CYP19A1_ENST00000559878.1_Missense_Mutation_p.A306T|CYP19A1_ENST00000396404.4_Missense_Mutation_p.A306T NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 306 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) TCAGGAGCTGCGATCAGCATT 0.403000 17 40 0 0 0.007413 0 0 EPB41L1 2036 broad.mit.edu 37 20 34766592 34766592 + Missense_Mutation SNP G G A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr20:34766592G>A ENST00000338074.2 + 5 649 c.488G>A c.(487-489)cGg>cAg p.R163Q EPB41L1_ENST00000373946.3_Missense_Mutation_p.R132Q|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R163Q|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R66Q|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R101Q|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R101Q NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 163 FERM. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) AAGCAGATCCGGAGTGAGTGG 0.537000 30 123 0 0 0.021022 0 0 CCDC66 285331 broad.mit.edu 37 3 56627995 56627995 + Missense_Mutation SNP T T A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr3:56627995T>A ENST00000394672.3 + 10 1413 c.1343T>A c.(1342-1344)cTc>cAc p.L448H CCDC66_ENST00000326595.7_Missense_Mutation_p.L414H|CCDC66_ENST00000436465.2_Missense_Mutation_p.L448H NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 448 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) ATGACTGCTCTCTTGGACCCA 0.373000 18 76 0 0 0.008871 0 0 ZXDB 158586 broad.mit.edu 37 X 57619097 57619097 + Missense_Mutation SNP G G A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chrX:57619097G>A ENST00000374888.1 + 1 829 c.616G>A c.(616-618)Ggg>Agg p.G206R NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.G206R(2) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 CCAGCAGCCCGGGTGTCTGAT 0.711000 3 12 0 0 0.009096 0 0 SPTBN5 51332 broad.mit.edu 37 15 42162706 42162706 + Nonsense_Mutation SNP G G A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr15:42162706G>A ENST00000320955.6 - 30 5727 c.5500C>T c.(5500-5502)Cga>Tga p.R1834* NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1834 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TCGGTGTCTCGGAGCGCGTGG 0.662000 7 43 0 0 0.006214 0 0 GEMIN7 0 broad.mit.edu 37 19 45593388 45593388 + Missense_Mutation SNP A A G TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr19:45593388A>G ENST00000270257.4 + 3 263 c.16A>G c.(16-18)Aac>Gac p.N6D GEMIN7_ENST00000391951.2_Missense_Mutation_p.N6D|GEMIN7_ENST00000591747.1_Missense_Mutation_p.N6D|CTB-179K24.4_ENST00000586744.1_RNA|GEMIN7_ENST00000591607.1_Missense_Mutation_p.N6D|CTB-179K24.3_ENST00000586556.1_RNA NM_001007269.1|NM_001007270.1|NM_024707.2 NP_001007270.1|NP_001007271.1|NP_078983.1 Q9H840 GEMI7_HUMAN gem (nuclear organelle) associated protein 7 6 ncRNA metabolic process|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding endometrium(1)|kidney(1)|lung(4)|ovary(1) 7 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0131) AACTCCAGTGAACATTCCCGT 0.577000 35 134 0 0 0.006999 0 0 LAMB1 3912 broad.mit.edu 37 7 107580636 107580636 + Missense_Mutation SNP C C T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr7:107580636C>T ENST00000393561.1 - 23 3815 c.3631G>A c.(3631-3633)Gat>Aat p.D1211N LAMB1_ENST00000222399.6_Missense_Mutation_p.D1187N P07942 LAMB1_HUMAN laminin, beta 1 1187 Domain II. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATGATCACATCCCAGAGAGCA 0.572000 11 94 0 0 0.008291 0 0 FAM8A1 51439 broad.mit.edu 37 6 17605181 17605181 + Missense_Mutation SNP A A G TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr6:17605181A>G ENST00000259963.3 + 3 933 c.878A>G c.(877-879)gAt>gGt p.D293G NM_016255.2 NP_057339.1 Q9UBU6 FA8A1_HUMAN family with sequence similarity 8, member A1 293 RDD. integral to membrane endometrium(1)|large_intestine(2)|lung(3) 6 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.143) all cancers(50;0.176)|Epithelial(50;0.204) GAAGAAATAGATGAAGACACA 0.323000 8 33 0 0 0.003080 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 5 40 0 0 0.001168 0 0 KCNB1 3745 broad.mit.edu 37 20 48098569 48098569 + Missense_Mutation SNP C C T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr20:48098569C>T ENST00000371741.4 - 1 615 c.449G>A c.(448-450)cGt>cAt p.R150H NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 150 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTCGGCCTCACGCTTGAGCTC 0.577000 7 97 0 0 0.001984 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 5 39 0 0 0.001168 0 0 CORO1B 57175 broad.mit.edu 37 11 67205932 67205932 + Missense_Mutation SNP G G T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr11:67205932G>T ENST00000393893.1 - 12 1488 c.1385C>A c.(1384-1386)gCc>gAc p.A462D CORO1B_ENST00000341356.5_Missense_Mutation_p.A462D|CORO1B_ENST00000539724.1_5'UTR NM_001018070.2 NP_001018080.1 Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 462 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) CGCCCTCAGGGCCCGCAGCTC 0.682000 7 59 2.7689e-08 3.20609e-08 0.001984 1 0 EIF4G3 8672 broad.mit.edu 37 1 21205816 21205816 + Splice_Site SNP C C G TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr1:21205816C>G ENST00000602326.1 - 18 3055 c.2472_splice c.e18+1 p.T824_splice EIF4G3_ENST00000536266.1_Splice_Site_p.T422_splice|EIF4G3_ENST00000374935.3_Splice_Site_p.T538_splice|EIF4G3_ENST00000374937.3_Splice_Site_p.T824_splice|EIF4G3_ENST00000537738.1_Splice_Site_p.T308_splice|EIF4G3_ENST00000400422.1_Splice_Site_p.T818_splice|EIF4G3_ENST00000264211.8_Splice_Site_p.T818_splice NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 818 MIF4G.|eIF3/EIF4A-binding (By similarity). interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity p.T824T(1)|p.T818T(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CTCTTCTTACCGTTACTAGAC 0.443000 15 70 0 0 0.003163 0 0 ZIC5 85416 broad.mit.edu 37 13 100617974 100617974 + Missense_Mutation SNP G G C TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr13:100617974G>C ENST00000267294.4 - 2 1882 c.1649C>G c.(1648-1650)cCc>cGc p.P550R NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 550 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GCAGTAGTAGGGCTTGTCACT 0.493000 19 81 0 0 0.006122 0 0 MUC6 4588 broad.mit.edu 37 11 1031058 1031059 + Splice_Site INS - - G rs140721287 by1000genomes TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr11:1031058_1031059insG ENST00000421673.2 - 6 625 c.e6-2 NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGAACTTGCCTGGGGTGCAGAA 0.703 3 6 --- --- --- --- SCUBE2 57758 broad.mit.edu 37 11 9113009 9113011 + In_Frame_Del DEL GCA GCA - rs72509739 TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr11:9113009_9113011delGCA ENST00000457346.2 - 1 139_141 c.65_67delTGC c.(64-69)ccg>c p.LP22del SCUBE2_ENST00000309263.3_In_Frame_Del_p.LP22del|SCUBE2_ENST00000534295.1_Intron|SCUBE2_ENST00000520467.1_In_Frame_Del_p.LP22del|SCUBE2_ENST00000450649.2_In_Frame_Del_p.LP22del Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 22 extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) agcagtggcggcagcagcagcag 0.788 2 4 --- --- --- --- ADCY4 196883 broad.mit.edu 37 14 24792632 24792632 + Frame_Shift_Del DEL G G - TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr14:24792632delG ENST00000310677.4 - 18 2188 c.2075delC c.(2074-2076)ctfs p.P692fs ADCY4_ENST00000396747.3_Frame_Shift_Del_p.P385fs|ADCY4_ENST00000554068.2_Frame_Shift_Del_p.P692fs|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.P692fs NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 692 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) AGCTTGGAAAGGGCAGTCTGA 0.542 2 4 --- --- --- --- TMEM132E 124842 broad.mit.edu 37 17 32957047 32957047 + Frame_Shift_Del DEL G G - TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr17:32957047delG ENST00000321639.5 + 6 1417 c.1089delG c.(1087-1089)acfs p.T363fs NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 363 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) TCATCAACACGGCCATTCTGA 0.602 9 46 --- --- --- --- LMTK3 114783 broad.mit.edu 37 19 48994757 48994758 + Frame_Shift_Ins INS - - G TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr19:48994757_48994758insG ENST00000600059.1 - 13 4358_4359 c.4131_4132insC c.(4129-4134)ccagggfs p.G1378fs LMTK3_ENST00000270238.3_Frame_Shift_Ins_p.G1407fs lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GTGTCCCCCTCGGGGGGGGCCT 0.658 4 7 --- --- --- --- NECAB3 63941 broad.mit.edu 37 20 32245753 32245753 + Frame_Shift_Del DEL A A - TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr20:32245753delA ENST00000246190.6 - 11 1212 c.1157delT c.(1156-1158)tcfs p.F386fs NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Frame_Shift_Del_p.F352fs NM_031232.3 NP_112509.3 Q96P71 NECA3_HUMAN N-terminal EF-hand calcium binding protein 3 386 antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process endoplasmic reticulum membrane|Golgi cis cisterna|nucleus calcium ion binding|oxidoreductase activity|protein binding large_intestine(3)|lung(5)|skin(2) 10 CATACCTGGGAAGAACACAGT 0.682 2 4 --- --- --- --- GNB2 2783 broad.mit.edu 37 7 100274423 100274424 + Splice_Site DEL GT GT - TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr7:100274423_100274424delGT ENST00000303210.4 + 4 685 c.e4+1 GNB2_ENST00000393924.1_Splice_Site|GNB2_ENST00000424361.1_Splice_Site|GNB2_ENST00000436220.1_Splice_Site|GNB2_ENST00000393926.1_Splice_Site|GNB2_ENST00000427895.1_Intron|GNB2_ENST00000419828.1_Intron NM_005273.3 NP_005264.2 P62879 GBB2_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 2 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission perinuclear region of cytoplasm|plasma membrane GTPase activity|GTPase binding|signal transducer activity endometrium(1)|lung(3)|ovary(2)|prostate(1) 7 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) Ovarian(593;0.238) CCGACTCAAGGTGTGTGTGTGT 0.634 3 4 --- --- --- --- TMEM132E 124842 broad.mit.edu 37 17 32957047 32957047 + Frame_Shift_Del DEL G G - TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr17:32957047delG ENST00000321639.5 + 6 1417 c.1089delG c.(1087-1089)acfs p.T363fs NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 363 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) TCATCAACACGGCCATTCTGA 0.602 9 46 --- --- --- --- POLI 11201 broad.mit.edu 37 18 51795958 51795960 + In_Frame_Del DEL CGA CGA - rs140689079 TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr18:51795958_51795960delCGA ENST00000579534.1 + 1 185_187 c.42_44delCGA c.(40-45)ggc>gg p.GD14del POLI_ENST00000406285.3_In_Frame_Del_p.GD14del|POLI_ENST00000579434.1_5'UTR NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 14 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding p.D17delD(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AAGGCGGCGGCGACGACGACGAG 0.729 DNA polymerases (catalytic subunits) 2 4 --- --- --- --- LMTK3 114783 broad.mit.edu 37 19 48994757 48994758 + Frame_Shift_Ins INS - - G TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr19:48994757_48994758insG ENST00000600059.1 - 13 4358_4359 c.4131_4132insC c.(4129-4134)ccagggfs p.G1378fs LMTK3_ENST00000270238.3_Frame_Shift_Ins_p.G1407fs lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GTGTCCCCCTCGGGGGGGGCCT 0.658 4 7 --- --- --- --- NECAB3 63941 broad.mit.edu 37 20 32245753 32245753 + Frame_Shift_Del DEL A A - TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr20:32245753delA ENST00000246190.6 - 11 1212 c.1157delT c.(1156-1158)tcfs p.F386fs NECAB3_ENST00000375238.4_Frame_Shift_Del_p.F352fs|NECAB3_ENST00000606525.1_5'UTR NM_031232.3 NP_112509.3 Q96P71 NECA3_HUMAN N-terminal EF-hand calcium binding protein 3 386 antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process endoplasmic reticulum membrane|Golgi cis cisterna|nucleus calcium ion binding|oxidoreductase activity|protein binding large_intestine(3)|lung(5)|skin(2) 10 CATACCTGGGAAGAACACAGT 0.682 2 4 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 0e5f2772-8881-4af0-afc1-ce1084d8eef4 g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 7 1 --- --- --- ---