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 SF1 7536 broad.mit.edu 37 11 64535651 64535651 + Missense_Mutation SNP G G A TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr11:64535651G>A ENST00000377390.3 - 9 1332 c.995C>T c.(994-996)aCc>aTc p.T332I SF1_ENST00000489544.1_5'UTR|SF1_ENST00000377387.1_Missense_Mutation_p.T457I|SF1_ENST00000334944.5_Missense_Mutation_p.T332I|SF1_ENST00000433274.2_Missense_Mutation_p.T306I|SF1_ENST00000377394.3_Missense_Mutation_p.T332I|SF1_ENST00000422298.2_Missense_Mutation_p.T217I|SF1_ENST00000227503.9_Missense_Mutation_p.T332I NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 332 Pro-rich. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 AGGCCCAGAGGTGGAGCCCAC 0.607000 OREG0004010|OREG0021062 type=REGULATORY REGION|Gene=LOC476031|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 70 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128380909 128380909 + Missense_Mutation SNP G G T TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr2:128380909G>T ENST00000389524.4 + 28 3753 c.3700G>T c.(3700-3702)Gac>Tac p.D1234Y MYO7B_ENST00000428314.1_Missense_Mutation_p.D1234Y|MYO7B_ENST00000409816.2_Missense_Mutation_p.D1234Y|MYO7B_ENST00000409090.1_Missense_Mutation_p.D87Y Q6PIF6 MYO7B_HUMAN myosin VIIB 1234 FERM 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GGGCCTCAGCGACCACCTGGG 0.632000 8 30 3.09899e-07 3.3469e-07 1 1 0 RP11-24M17.5 0 broad.mit.edu 37 15 76067987 76067987 + RNA SNP A A G rs34243492 by1000genomes TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr15:76067987A>G ENST00000395215.3 + 0 94 GAAGAAACTCAACAGAGTAAA 0.537000 3 55 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr16:90161926T>C ENST00000564451.1 + 0 1279 TUBB8P7_ENST00000567960.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 3 31 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153130322 153130322 + Silent SNP G G A rs149420127 TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chrX:153130322G>A ENST00000370060.1 - 23 3189 c.3000C>T c.(2998-3000)ggC>ggT p.G1000G L1CAM_ENST00000361981.3_Silent_p.G995G|L1CAM_ENST00000361699.4_Silent_p.G1000G|L1CAM_ENST00000370055.1_Silent_p.G995G|L1CAM_ENST00000543994.1_Silent_p.G1002G|L1CAM_ENST00000538883.1_Silent_p.G1002G|L1CAM_ENST00000370057.3_Silent_p.G1000G NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 1000 Fibronectin type-III 4. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane p.G1000G(1) 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) CTTCACCAGGGCCCTCTTTGG 0.632000 6 261 0 0 1 0 0 GPR115 221393 broad.mit.edu 37 6 47681877 47681877 + Missense_Mutation SNP G G T TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr6:47681877G>T ENST00000283303.2 + 6 1154 c.896G>T c.(895-897)gGg>gTg p.G299V GPR115_ENST00000371220.1_Missense_Mutation_p.G356V|GPR115_ENST00000327753.3_Missense_Mutation_p.G299V NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 299 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 CCAACCTTGGGGGCTATCCTG 0.468000 22 26 1.50039e-11 1.76133e-11 1 1 0 ARID1A 8289 broad.mit.edu 37 1 27099905 27099905 + Translation_Start_Site SNP C C A TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr1:27099905C>A ENST00000540690.1 + 0 93 ARID1A_ENST00000374152.2_Missense_Mutation_p.R879S|ARID1A_ENST00000457599.2_Missense_Mutation_p.R1262S|ARID1A_ENST00000324856.7_Missense_Mutation_p.R1262S O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCCCTACAGTCGTGCTGCCGG 0.592000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 3 64 1 1 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 4 73 0 0 1 0 0 STATH 6779 broad.mit.edu 37 4 70865527 70865527 + Splice_Site SNP G G A TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr4:70865527G>A ENST00000246895.4 + 4 213 c.e4+1 STATH_ENST00000381060.2_Intron NM_003154.2 NP_003145.1 P02808 STAT_HUMAN statherin biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion extracellular region extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel lung(2)|skin(1) 3 AAGATTCGGTGTAAGTGTTCT 0.299000 16 29 0 0 1 0 0 XRCC3 7517 broad.mit.edu 37 14 104169529 104169529 + Missense_Mutation SNP A A T TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr14:104169529A>T ENST00000553264.1 - 5 1338 c.542T>A c.(541-543)aTc>aAc p.I181N XRCC3_ENST00000554913.1_Missense_Mutation_p.I181N|XRCC3_ENST00000555055.1_Missense_Mutation_p.I181N|XRCC3_ENST00000555832.1_5'UTR|XRCC3_ENST00000445556.1_Missense_Mutation_p.I181N|XRCC3_ENST00000352127.7_Missense_Mutation_p.I181N|XRCC3_ENST00000554974.1_Intron O43542 XRCC3_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 3 181 DNA recombination|DNA repair mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity endometrium(1)|large_intestine(1)|ovary(1)|prostate(1) 4 Melanoma(154;0.155)|all_epithelial(191;0.19) Epithelial(152;0.239) CACGTGCTCGATGAAGATCTG 0.612000 Direct reversal of damage;Homologous recombination 4 5 0 0 1 0 0 NOC2L 26155 broad.mit.edu 37 1 887945 887945 + Missense_Mutation SNP G G T TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr1:887945G>T ENST00000327044.6 - 10 1087 c.1038C>A c.(1036-1038)ttC>ttA p.F346L NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 346 nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CAGGCGAGGTGAACTTGCAGT 0.617000 4 99 0.00909568 0.00944551 1 1 0 SIGLEC8 27181 broad.mit.edu 37 19 51960834 51960834 + Missense_Mutation SNP C C T TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr19:51960834C>T ENST00000321424.3 - 2 680 c.614G>A c.(613-615)cGc>cAc p.R205H SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 205 Ig-like C2-type 1. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CACTGAGGAGCGGGCAGTAGT 0.652000 21 49 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96788936 96788936 + Missense_Mutation SNP G G C TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr14:96788936G>C ENST00000359933.4 - 17 3570 c.2677C>G c.(2677-2679)Cta>Gta p.L893V NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 893 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GGTCTTCTTAGATCACAAACA 0.398000 9 36 0 0 1 0 0 WDTC1 23038 broad.mit.edu 37 1 27623608 27623608 + Missense_Mutation SNP G G C TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr1:27623608G>C ENST00000319394.3 + 11 1554 c.1019G>C c.(1018-1020)aGc>aCc p.S340T WDTC1_ENST00000361771.3_Missense_Mutation_p.S339T NM_001276252.1|NM_015023.3 NP_001263181.1|NP_055838.2 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 340 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) CACCTTCATAGCAATGGCTTC 0.557000 OREG0013279 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 19 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1629760 1629760 + Missense_Mutation SNP C C T TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr20:1629760C>T ENST00000381580.1 - 2 448 c.269G>A c.(268-270)cGa>cAa p.R90Q SIRPG_ENST00000344103.4_Missense_Mutation_p.R123Q|SIRPG_ENST00000381583.2_Missense_Mutation_p.R123Q|SIRPG_ENST00000216927.4_Missense_Mutation_p.R123Q|SIRPG_ENST00000303415.3_Missense_Mutation_p.R123Q Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 123 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 GCTCCCTTTTCGAAACTTCAC 0.498000 6 142 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 2 6 0 0 1 0 0 PRPF38A 84950 broad.mit.edu 37 1 52874249 52874249 + Missense_Mutation SNP G G A TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr1:52874249G>A ENST00000257181.9 + 3 485 c.299G>A c.(298-300)cGc>cAc p.R100H PRPF38A_ENST00000474048.1_Intron NM_032864.3 NP_116253.2 Q8NAV1 PR38A_HUMAN pre-mRNA processing factor 38A 100 mRNA processing|RNA splicing spliceosomal complex cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1) 9 AGGTATGTCCGCATGCTGGGG 0.443000 4 89 0 0 1 0 0 ARSF 416 broad.mit.edu 37 X 3030306 3030306 + Silent SNP C C T TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chrX:3030306C>T ENST00000381127.1 + 11 1703 c.1482C>T c.(1480-1482)ttC>ttT p.F494F ARSF_ENST00000359361.2_Silent_p.F494F|ARSF_ENST00000537104.1_Silent_p.F494F NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 494 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCAGATGTTTCGGAGAACAGG 0.572000 5 152 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057069 9057069 + Missense_Mutation SNP G G A TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr19:9057069G>A ENST00000397910.4 - 3 30580 c.30377C>T c.(30376-30378)cCa>cTa p.P10126L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10128 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGCCTTGGATGGCTCCGAGTG 0.463000 6 62 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 31 63 0 0 1 0 0 CIDECP 0 broad.mit.edu 37 3 10065426 10065426 + RNA SNP C C T rs6803517 by1000genomes TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr3:10065426C>T ENST00000432401.1 - 0 322 GTGGGTGCCTCGTCCCCTGCA 0.502000 3 57 0 0 1 0 0 TNRC6B 23112 broad.mit.edu 37 22 40712010 40712010 + Silent SNP C C G TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr22:40712010C>G ENST00000454349.2 + 21 5179 c.4968C>G c.(4966-4968)acC>acG p.T1656T TNRC6B_ENST00000335727.8_Silent_p.T1546T|TNRC6B_ENST00000301923.9_Silent_p.T852T|TNRC6B_ENST00000402203.1_Silent_p.T852T NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1656 RRM. gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 ACAATCTCACCCCACAGGTAA 0.453000 6 31 0 0 1 0 0 DLX2 1746 broad.mit.edu 37 2 172967129 172967131 + In_Frame_Del DEL GCT GCT - TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr2:172967129_172967131delGCT ENST00000234198.4 - 1 497_499 c.136_138delAGC c.(136-138)del p.S46del DLX2_ENST00000466293.2_In_Frame_Del_p.S46del NM_004405.3 NP_004396.1 Q07687 DLX2_HUMAN distal-less homeobox 2 46 Poly-Ser. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.216) GCTTGTGGAGgctgctgctgctg 0.739 2 4 --- --- --- --- CACNA1B 774 broad.mit.edu 37 9 141015112 141015112 + Frame_Shift_Del DEL C C - TCGA-DJ-A3V4-01A-11D-A22Z-08 TCGA-DJ-A3V4-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482 11790be6-dc18-46cf-80b9-071c1a1a611c g.chr9:141015112delC ENST00000277549.5 + 46 6419 c.3850delC c.(3850-3852)ccfs p.P1285fs CACNA1B_ENST00000277551.2_Frame_Shift_Del_p.P2091fs|CACNA1B_ENST00000371355.4_Frame_Shift_Del_p.P2092fs|CACNA1B_ENST00000371357.1_Frame_Shift_Del_p.P2090fs|CACNA1B_ENST00000371363.1_Frame_Shift_Del_p.P2089fs|CACNA1B_ENST00000371372.1_Frame_Shift_Del_p.P2091fs Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 2091 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GCCGGGGCTGCCCCCGGGAGA 0.731 2 4 --- --- --- ---