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 B9D1 27077 broad.mit.edu 37 17 19247075 19247075 + Missense_Mutation SNP G G A rs4924987 by1000genomes TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr17:19247075G>A ENST00000477478.2 - 6 760 c.427C>T c.(427-429)Cat>Tat p.H143Y B9D1_ENST00000261499.4_Intron|B9D1_ENST00000395615.1_Intron|B9D1_ENST00000461069.2_Intron|B9D1_ENST00000575403.1_Intron|B9D1_ENST00000395616.3_Intron Q9UPM9 B9D1_HUMAN B9 protein domain 1 125 cilium assembly centrosome|microtubule basal body protein binding large_intestine(3)|urinary_tract(1) 4 all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143) TATGGGGGATGGGGGTAAGAG 0.642000 4 60 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 19 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293269 145293269 + Splice_Site SNP G G A rs61350760 by1000genomes TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr1:145293269G>A ENST00000369338.1 + 1 155 c.e1+1 NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTCACAACAGTAAGTTAAGA 0.423000 9 117 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 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 9 112 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14779969 14779969 + Missense_Mutation SNP C C G rs9675365 by1000genomes TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr18:14779969C>G ENST00000358984.4 + 11 1611 c.1431C>G c.(1429-1431)ttC>ttG p.F477L ANKRD30B_ENST00000447268.2_Missense_Mutation_p.F477L|ANKRD30B_ENST00000579292.1_Intron NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 477 F -> L (in dbSNP:rs9675365). p.F477L(2) breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 ATCAGATGTTCCCATCAGAAT 0.279000 4 39 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2797746 2797746 + Missense_Mutation SNP G G A rs112414325 TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr12:2797746G>A ENST00000399655.1 + 46 6183 c.5918G>A c.(5917-5919)cGg>cAg p.R1973Q CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1981Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1981Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R2014Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R2008Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R2044Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R2001Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1998Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1993Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1992Q|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R2021Q|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1979Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R2044Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1992Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1992Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1990Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R2008Q NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 2056 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCCACCCTGCGGCTTGAGGGG 0.672000 8 82 0 0 1 0 0 KIR2DL3 3804 broad.mit.edu 37 19 55249990 55249990 + Translation_Start_Site SNP C C A rs10415421 TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr19:55249990C>A ENST00000342376.3 + 0 11 KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_De_novo_Start_OutOfFrame NM_015868.2 NP_056952.2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) GGCGCGGCCGCCTGTCTGCAC 0.602000 OREG0003673 type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 4 37 2.7689e-08 2.86438e-08 1 1 0 NPAT 4863 broad.mit.edu 37 11 108032299 108032299 + Missense_Mutation SNP A A G TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr11:108032299A>G ENST00000278612.8 - 17 3619 c.3514T>C c.(3514-3516)Tgc>Cgc p.C1172R NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 1172 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) ACATCGCTGCATAATTCATTC 0.363000 18 160 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203816376 203816376 + Silent SNP C C T TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr1:203816376C>T ENST00000545588.1 + 12 4934 c.1107C>T c.(1105-1107)gcC>gcT p.A369A ZC3H11A_ENST00000367212.3_Silent_p.A369A|ZC3H11A_ENST00000332127.4_Silent_p.A369A|ZC3H11A_ENST00000367210.1_Silent_p.A369A|ZC3H11A_ENST00000367214.1_Silent_p.A369A NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 369 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) TTGAAAGAGCCAGTCAGAAAC 0.373000 6 55 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098733 11098733 + RNA SNP G G A TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr21:11098733G>A ENST00000470054.1 - 0 192 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) tgctccggccgccatcttact 0.632000 8 82 0 0 1 0 0 RRN3P1 0 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 5 33 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr12:106820987C>T ENST00000228347.4 + 13 1336 c.1114C>T c.(1114-1116)Ctt>Ttt p.L372F POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L372F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTATCTCTTCTTTTTGAAGA 0.274000 9 18 0 0 1 0 0 RP11-38L15.8 0 broad.mit.edu 37 10 46914641 46914641 + RNA SNP T T C rs144488284 by1000genomes TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr10:46914641T>C ENST00000605984.1 - 0 319 FAM35BP_ENST00000475914.1_RNA CGAAGGATGATTTTGGAGGCA 0.433000 3 14 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117783441 117783441 + Missense_Mutation SNP C C T TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr9:117783441C>T ENST00000350763.4 - 28 7012 c.6601G>A c.(6601-6603)Gca>Aca p.A2201T TNC_ENST00000341037.4_Missense_Mutation_p.A2019T|TNC_ENST00000537320.1_Missense_Mutation_p.A1564T|TNC_ENST00000346706.3_Missense_Mutation_p.A1655T|TNC_ENST00000542877.1_Missense_Mutation_p.A1838T|TNC_ENST00000345230.3_Missense_Mutation_p.A1564T|TNC_ENST00000340094.3_Missense_Mutation_p.A1837T|TNC_ENST00000535648.1_Missense_Mutation_p.A1746T|TNC_ENST00000423613.2_Missense_Mutation_p.A1928T NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 2201 cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GGAATTTATGCCCGTTTGCGC 0.502000 4 61 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 6 80 0 0 1 0 0 SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 8 16 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710019 38710019 + RNA DEL T T - rs2005502 by1000genomes TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr2:38710019delT ENST00000417039.1 - 0 696 CTTtaaaaaataaataaataa 0.244 7 5 --- --- --- --- AC093838.4 0 broad.mit.edu 37 2 132266282 132266282 + RNA DEL G G - rs74537446 TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr2:132266282delG ENST00000438378.2 + 0 1234 NR_026922.1 GCTGGATGGTGGGAAGCAGAA 0.547 5 6 --- --- --- --- ARID1B 57492 broad.mit.edu 37 6 157100302 157100302 + Frame_Shift_Del DEL G G - TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr6:157100302delG ENST00000346085.5 + 1 1240 c.1239delG c.(1237-1239)tcfs p.S413fs ARID1B_ENST00000367148.1_Frame_Shift_Del_p.S413fs|ARID1B_ENST00000350026.5_Frame_Shift_Del_p.S413fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.S355fs NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 413 Ala-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) AGCACCCGTCGGGGGCCACCC 0.771 2 4 --- --- --- --- ABL1 25 broad.mit.edu 37 9 133759490 133759492 + In_Frame_Del DEL AAG AAG - TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr9:133759490_133759492delAAG ENST00000318560.5 + 11 2194_2196 c.1813_1815delAAG c.(1813-1815)del p.K609del NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 609 Poly-Lys. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CGCCTTGATCAAGAAGAAGAAGA 0.616 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 7 165 --- --- --- --- SACS 26278 broad.mit.edu 37 13 23914687 23914687 + Frame_Shift_Del DEL T T - TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr13:23914687delT ENST00000382298.3 - 10 3916 c.3328delA c.(3328-3330)ttfs p.I1110fs SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1110 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAGGCTTCAATTTTTTTTGCC 0.383 7 342 --- --- --- --- Z84812.4 0 broad.mit.edu 37 16 81973 81974 + RNA INS - - GTCC TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr16:81973_81974insGTCC ENST00000568710.1 - 0 349 ATCAGCAGGAGGCCCACCTCGT 0.614 8 19 --- --- --- --- CTC-513N18.6 0 broad.mit.edu 37 19 20634038 20634039 + RNA DEL TG TG - TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr19:20634038_20634039delTG ENST00000598131.1 + 0 160 TTAGTAAAAATGTGTGTGTGTG 0.401 8 69 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-ET-A39L-01A-12D-A19J-08 TCGA-ET-A39L-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4 09a340d3-3d5f-4a47-892c-5139c0bb78d3 g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 7 178 --- --- --- ---