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 RET 5979 broad.mit.edu 37 10 43609948 43609948 + Missense_Mutation SNP T T C rs75076352 TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr10:43609948T>C ENST00000355710.3 + 11 2132 c.1900T>C c.(1900-1902)Tgc>Cgc p.C634R RET_ENST00000340058.5_Missense_Mutation_p.C634R NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 634 C -> CHELC (in MEN2A).|C -> F (in MEN2A and pheochromocytoma).|C -> G (in MEN2A and pheochromocytoma).|C -> R (in MEN2A, pheochromocytoma and MTC; familial form; also found as somatic mutation in a sporadic thyroid carcinoma).|C -> S (in MEN2A, pheochromocytoma and MTC; familial form).|C -> W (in MEN2A, pheochromocytoma and MTC; familial form).|C -> Y (in MEN2A, pheochromocytoma and MTC; familial form).|CR -> WG (in MEN2A).|ELC -> DVR (in MEN2A). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity p.E632_T636>SS(14)|p.C634R(8)|p.D631_I638>A(1)|p.E632_C634>L(1)|p.E632_A640>VRP(1) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CGACGAGCTGTGCCGCACGGT 0.622000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 11 27 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187527280 187527280 + Missense_Mutation SNP C C T TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr4:187527280C>T ENST00000441802.2 - 17 10503 c.10294G>A c.(10294-10296)Gat>Aat p.D3432N NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3432 Cadherin 31. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TCATTGACATCGGACACATCG 0.507000 HNSCC(5;0.00058) 9 96 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92616485 92616485 + Missense_Mutation SNP A A C TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr11:92616485A>C ENST00000298047.6 + 23 12880 c.12863A>C c.(12862-12864)aAc>aCc p.N4288T FAT3_ENST00000533797.1_Missense_Mutation_p.N623T|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Missense_Mutation_p.N4138T|FAT3_ENST00000409404.2_Missense_Mutation_p.N4288T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4288 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.N4288T(4)|p.N863T(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTGGCCCCCAACCTCCCCGCC 0.657000 TCGA Ovarian(4;0.039) 10 47 0 0 1 0 0 ADAD2 161931 broad.mit.edu 37 16 84224883 84224883 + Missense_Mutation SNP A A G TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr16:84224883A>G ENST00000268624.3 + 1 140 c.47A>G c.(46-48)aAg>aGg p.K16R ADAD2_ENST00000567413.1_3'UTR|ADAD2_ENST00000315906.5_Missense_Mutation_p.K16R NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 16 RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 AGTCGTAGGAAGCCCCGCCTG 0.716000 6 6 0 0 1 0 0 LRP8 7804 broad.mit.edu 37 1 53732212 53732212 + Missense_Mutation SNP C C T TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr1:53732212C>T ENST00000306052.6 - 9 1461 c.1360G>A c.(1360-1362)Gca>Aca p.A454T LRP8_ENST00000465675.1_Missense_Mutation_p.A7T|LRP8_ENST00000371454.2_Missense_Mutation_p.A454T|LRP8_ENST00000354412.3_Missense_Mutation_p.A325T|LRP8_ENST00000347547.2_Missense_Mutation_p.A284T NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 454 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 ACATCTAGTGCCACGACATTC 0.542000 3 43 0 0 1 0 0 KCTD5 54442 broad.mit.edu 37 16 2732747 2732747 + Silent SNP G G A TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr16:2732747G>A ENST00000301738.4 + 1 272 c.198G>A c.(196-198)ccG>ccA p.P66P KCTD5_ENST00000564195.1_Silent_p.P66P NM_018992.3 NP_061865.1 Q9NXV2 KCTD5_HUMAN potassium channel tetramerization domain containing 5 66 BTB. interspecies interaction between organisms cytosol|nucleus|voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 GCCGGGACCCGAAATCCTTCC 0.687000 13 30 0 0 1 0 0 IL13RA1 3597 broad.mit.edu 37 X 117892071 117892071 + Missense_Mutation SNP A A G TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chrX:117892071A>G ENST00000371666.3 + 5 609 c.542A>G c.(541-543)cAa>cGa p.Q181R IL13RA1_ENST00000371642.1_Missense_Mutation_p.Q181R|IL13RA1_ENST00000481868.1_3'UTR NM_001560.2 NP_001551.1 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 181 interleukin-13 receptor complex cytokine receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 12 AGAGAAGGCCAATACTTTGGT 0.348000 32 119 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113242030 113242030 + Missense_Mutation SNP C C T TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr9:113242030C>T ENST00000401783.2 - 13 2708 c.2372G>A c.(2371-2373)cGt>cAt p.R791H SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.R791H|SVEP1_ENST00000374469.1_Missense_Mutation_p.R768H|SVEP1_ENST00000374461.1_Missense_Mutation_p.R768H NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 791 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GTTTGCAAAACGTTTTTCTAG 0.343000 49 132 0 0 1 0 0 PHF7 51533 broad.mit.edu 37 3 52456806 52456806 + Silent SNP C C T TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr3:52456806C>T ENST00000327906.3 + 10 1488 c.828C>T c.(826-828)tgC>tgT p.C276C PHF7_ENST00000478707.1_Silent_p.C276C|PHF7_ENST00000347025.2_Silent_p.C237C NM_016483.4 NP_057567.3 Q9BWX1 PHF7_HUMAN PHD finger protein 7 276 nucleus zinc ion binding breast(2)|large_intestine(4)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275) GTGCTACATGCGGATCCCACG 0.532000 4 119 0 0 1 0 0 TRAV8-2 28684 broad.mit.edu 37 14 22315304 22315304 + RNA SNP G G A TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr14:22315304G>A ENST00000390434.3 + 0 467 GGCATCAACGGTTTTGAGGCT 0.498000 OREG0022570 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 108 0 0 1 0 0 BBS7 55212 broad.mit.edu 37 4 122774228 122774228 + Silent SNP A A G TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr4:122774228A>G ENST00000264499.4 - 8 915 c.732T>C c.(730-732)atT>atC p.I244I BBS7_ENST00000506636.1_Silent_p.I244I NM_176824.2 NP_789794.1 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 244 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 CAAAGCTGTCAATACACAAAA 0.333000 Bardet-Biedl syndrome 14 44 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153134383 153134383 + Missense_Mutation SNP G G A TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chrX:153134383G>A ENST00000370060.1 - 12 1481 c.1292C>T c.(1291-1293)gCg>gTg p.A431V L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 431 Ig-like C2-type 5. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGATTGTCCGCAGTCAGGAT 0.617000 4 99 0 0 1 0 0 GAGE2A 729447 broad.mit.edu 37 X 49355893 49355893 + Missense_Mutation SNP C C G rs147803166 by1000genomes TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chrX:49355893C>G ENST00000362097.1 + 3 258 c.175C>G c.(175-177)Cag>Gag p.Q59E NM_001127212.1 NP_001120684.1 G antigen 2A p.Q59E(8) endometrium(4) 4 Ovarian(276;0.236) TCAGGAGGGACAGGATGAGGG 0.562000 7 537 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43607567 43607567 + Missense_Mutation SNP T T A TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr10:43607567T>A ENST00000355710.3 + 8 1775 c.1543T>A c.(1543-1545)Tgc>Agc p.C515S RET_ENST00000340058.5_Missense_Mutation_p.C515S NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 515 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) GGAGGCGGGCTGCCCCCTGTC 0.667000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 6 11 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 3 25 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144863392 144863392 + Missense_Mutation SNP T T G TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr1:144863392T>G ENST00000369359.4 - 40 6457 c.6419A>C c.(6418-6420)cAg>cCg p.Q2140P RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q2004P|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q2004P|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1898P|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2089P Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2004 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTCAAAGAGCTGCTGTTTCTC 0.532000 T PDGFRB MPD 8 166 0 0 1 0 0 RASA3 22821 broad.mit.edu 37 13 114782724 114782724 + Missense_Mutation SNP C C T TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr13:114782724C>T ENST00000334062.7 - 12 1316 c.1195G>A c.(1195-1197)Gcc>Acc p.A399T RASA3_ENST00000389544.4_Missense_Mutation_p.A367T NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 399 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) TCCTCGATGGCGGGCTTCAGG 0.622000 OREG0022538 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 126 0 0 1 0 0 NCOA7 135112 broad.mit.edu 37 6 126210125 126210125 + Missense_Mutation SNP G G C TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr6:126210125G>C ENST00000368357.3 + 10 1277 c.925G>C c.(925-927)Gaa>Caa p.E309Q NCOA7_ENST00000392477.2_Missense_Mutation_p.E309Q|NCOA7_ENST00000229634.9_Missense_Mutation_p.E194Q NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 309 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) CAGGCCTGGAGAATGGGAAGA 0.408000 4 180 0 0 1 0 0 IGHV4-61 28391 broad.mit.edu 37 14 107095454 107095454 + RNA SNP A A G TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr14:107095454A>G ENST00000390630.2 - 0 147 AGAGACCCACAGTGAGCCCTG 0.617000 4 30 0 0 1 0 0 KLK12 43849 broad.mit.edu 37 19 51534095 51534095 + Missense_Mutation SNP G G A TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr19:51534095G>A ENST00000529888.1 - 4 355 c.280C>T c.(280-282)Cac>Tac p.H94Y CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000525263.1_Silent_p.I180I|KLK12_ENST00000319590.4_Silent_p.I180I|KLK12_ENST00000250351.4_Silent_p.I180I|KLK12_ENST00000250352.11_Silent_p.I70I NM_145895.1 NP_665902.1 Q9UKR0 KLK12_HUMAN kallikrein-related peptidase 12 0 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 12 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) TGTTGCTCGTGATTCTCCCGG 0.622000 61 128 0 0 1 0 0 RP11-13J8.1 0 broad.mit.edu 37 2 201967217 201967218 + RNA DEL AG AG - TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr2:201967217_201967218delAG ENST00000448256.1 + 0 627_628 aaaaaaaaaaagaaTTTGTTCT 0.460 5 8 --- --- --- --- CASP8AP2 9994 broad.mit.edu 37 6 90556398 90556398 + RNA DEL T T - TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr6:90556398delT ENST00000551025.1 + 0 1492 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TCTAAtttccttttttttttt 0.418 3 4 --- --- --- --- ZNF484 83744 broad.mit.edu 37 9 95609713 95609713 + Frame_Shift_Del DEL T T - TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr9:95609713delT ENST00000395505.2 - 3 1340 c.1248delA c.(1246-1248)aafs p.K416fs ZNF484_ENST00000375495.3_Frame_Shift_Del_p.K452fs|ZNF484_ENST00000395506.3_Frame_Shift_Del_p.K454fs|ZNF484_ENST00000332591.6_Frame_Shift_Del_p.K416fs|ANKRD19P_ENST00000473204.1_RNA NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 GGAGTTGTGATTTTTTAATAA 0.383 19 83 --- --- --- --- MYO15A 51168 broad.mit.edu 37 17 18023292 18023293 + Frame_Shift_Ins INS - - C TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr17:18023292_18023293insC ENST00000205890.5 + 2 1516_1517 c.1178_1179insC c.(1177-1179)tccfs p.S393fs NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 393 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GAGGCCATCTACCCCCCCGAGG 0.619 7 141 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 3 6 --- --- --- ---