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 HMCN1 83872 broad.mit.edu 37 1 186135336 186135336 + Missense_Mutation SNP G G A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr1:186135336G>A ENST00000271588.4 + 99 15569 c.15340G>A c.(15340-15342)Ggg>Agg p.G5114R HMCN1_ENST00000367492.2_Missense_Mutation_p.G5114R NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 5114 EGF-like 1; calcium-binding (Potential). response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATGTGCAGCAGGGAATCCCTG 0.443000 9 30 0 0 1 0 0 POLD1 5424 broad.mit.edu 37 19 50905073 50905073 + Missense_Mutation SNP C C T TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr19:50905073C>T ENST00000440232.2 + 4 408 c.355C>T c.(355-357)Cgc>Tgc p.R119C POLD1_ENST00000599857.1_Missense_Mutation_p.R119C|POLD1_ENST00000595904.1_Missense_Mutation_p.R119C NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 119 R -> H (in dbSNP:rs1726801). base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) CCCACCATCCCGCGGCTCCGT 0.672000 DNA polymerases (catalytic subunits) 27 61 0 0 1 0 0 NECAB1 64168 broad.mit.edu 37 8 91963412 91963412 + Missense_Mutation SNP C C A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr8:91963412C>A ENST00000417640.2 + 12 1347 c.1010C>A c.(1009-1011)aCa>aAa p.T337K NECAB1_ENST00000521366.1_Missense_Mutation_p.T86K|NECAB1_ENST00000522820.1_Missense_Mutation_p.T86K NM_022351.4 NP_071746.1 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 337 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity p.T337I(1) breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 12 BRCA - Breast invasive adenocarcinoma(11;0.0499) CCAGAACTCACATCTACAATG 0.343000 14 28 8.60227e-14 8.79344e-14 1 1 0 PDLIM1 9124 broad.mit.edu 37 10 97028545 97028545 + Missense_Mutation SNP G G A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr10:97028545G>A ENST00000329399.6 - 3 431 c.323C>T c.(322-324)tCt>tTt p.S108F PDLIM1_ENST00000477757.1_5'UTR NM_020992.2 NP_066272.1 O00151 PDLI1_HUMAN PDZ and LIM domain 1 108 response to oxidative stress cytoplasm|cytoskeleton zinc ion binding endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2) 10 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) CTGGGGTTCAGAGGCTAAATT 0.498000 21 66 0 0 1 0 0 ASCL1 429 broad.mit.edu 37 12 103352385 103352385 + Silent SNP G G A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr12:103352385G>A ENST00000266744.3 + 1 922 c.363G>A c.(361-363)gcG>gcA p.A121A NM_004316.3 NP_004307.2 P50553 ASCL1_HUMAN achaete-scute family bHLH transcription factor 1 121 cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity NS(3)|large_intestine(1)|lung(1) 5 CCGCCGTGGCGCGCCGCAACG 0.667000 4 18 0 0 1 0 0 FBXW12 285231 broad.mit.edu 37 3 48415175 48415175 + Missense_Mutation SNP A A G TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr3:48415175A>G ENST00000296438.5 + 4 452 c.266A>G c.(265-267)tAc>tGc p.Y89C FBXW12_ENST00000445170.1_Missense_Mutation_p.Y70C|FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000415155.1_Missense_Mutation_p.Y89C NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 89 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AACTTTATCTACAAAGTAACT 0.448000 18 36 0 0 1 0 0 EEF1A1 1915 broad.mit.edu 37 6 74228090 74228090 + Missense_Mutation SNP C C T TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr6:74228090C>T ENST00000316292.9 - 5 2007 c.1016G>A c.(1015-1017)gGc>gAc p.G339D EEF1A1_ENST00000331523.2_Missense_Mutation_p.G339D|EEF1A1_ENST00000309268.6_Missense_Mutation_p.G339D|EEF1A1_ENST00000491404.1_Intron NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 339 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 AGCAGTGAAGCCAGCTGCTTC 0.418000 OREG0003895 type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 21 53 0 0 1 0 0 KPNA6 23633 broad.mit.edu 37 1 32625009 32625009 + Silent SNP T T G TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr1:32625009T>G ENST00000373625.3 + 6 528 c.435T>G c.(433-435)gcT>gcG p.A145A KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Silent_p.A150A|KPNA6_ENST00000537234.1_Silent_p.A142A NM_012316.4 NP_036448.1 O60684 IMA7_HUMAN karyopherin alpha 6 (importin alpha 7) 145 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding large_intestine(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AGTTTGAAGCTGCCTGGGCTC 0.463000 29 51 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282739 152282739 + Silent SNP G G A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr1:152282739G>A ENST00000368799.1 - 3 4658 c.4623C>T c.(4621-4623)agC>agT p.S1541S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1541 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGTTTGCCTGCTTGCACTTC 0.572000 Ichthyosis 37 344 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176309093 176309093 + Missense_Mutation SNP G G A rs147409752 by1000genomes TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr5:176309093G>A ENST00000292432.5 - 16 2180 c.2089C>T c.(2089-2091)Cgg>Tgg p.R697W NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 697 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCACATTCCGGAGCTCCTCC 0.607000 23 28 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101591395 101591395 + Missense_Mutation SNP C C T TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr2:101591395C>T ENST00000335681.5 + 13 1556 c.1271C>T c.(1270-1272)tCa>tTa p.S424L NPAS2_ENST00000542504.1_Missense_Mutation_p.S489L|AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000439150.1_RNA NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 424 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACAGCCATGTCAGAACCCACC 0.577000 26 5 0 0 1 0 0 SRSF5 6430 broad.mit.edu 37 14 70235548 70235548 + Silent SNP A A G TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr14:70235548A>G ENST00000553521.1 + 5 1684 c.231A>G c.(229-231)cgA>cgG p.R77R SRSF5_ENST00000555349.1_Silent_p.R77R|SRSF5_ENST00000554021.1_Silent_p.R77R|SRSF5_ENST00000553548.1_Silent_p.R77R|SRSF5_ENST00000553635.1_Silent_p.R74R|SRSF5_ENST00000451983.2_Silent_p.R77R|SRSF5_ENST00000557154.1_Silent_p.R77R|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000394366.2_Silent_p.R77R Q13243 SRSF5_HUMAN serine/arginine-rich splicing factor 5 77 mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding large_intestine(1)|liver(1) 2 CTCGGTCACGAGGTGGAAGAG 0.423000 3 53 0 0 1 0 0 SEC24B 10427 broad.mit.edu 37 4 110451514 110451514 + Missense_Mutation SNP C C T TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr4:110451514C>T ENST00000265175.5 + 19 3201 c.3146C>T c.(3145-3147)tCa>tTa p.S1049L SEC24B_ENST00000504968.2_Missense_Mutation_p.S1079L|SEC24B_ENST00000399100.2_Missense_Mutation_p.S1014L NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 1049 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) GTAGTGGACTCATTGTCTGCA 0.448000 15 21 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236882250 236882250 + Missense_Mutation SNP G G A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr1:236882250G>A ENST00000366578.4 + 3 464 c.298G>A c.(298-300)Gtc>Atc p.V100I ACTN2_ENST00000542672.1_Missense_Mutation_p.V100I|ACTN2_ENST00000492634.1_3'UTR NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 100 Actin-binding.|CH 1. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) AATTGCTAATGTCAACAAAGC 0.502000 20 40 0 0 1 0 0 KRTAP17-1 83902 broad.mit.edu 37 17 39471807 39471807 + Silent SNP G G A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr17:39471807G>A ENST00000334202.3 - 1 140 c.96C>T c.(94-96)tgC>tgT p.C32C NM_031964.1 NP_114170.1 Q9BYP8 KR171_HUMAN keratin associated protein 17-1 32 intermediate filament haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) agcaggagccgcagcagccac 0.682000 8 6 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72027093 72027093 + Missense_Mutation SNP T T A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr12:72027093T>A ENST00000378743.3 - 13 2994 c.2636A>T c.(2635-2637)gAa>gTa p.E879V NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 879 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 AAGAATTTTTTCAGTTGCTTG 0.294000 4 8 0 0 1 0 0 ANKS6 203286 broad.mit.edu 37 9 101546340 101546340 + Missense_Mutation SNP G G A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr9:101546340G>A ENST00000353234.4 - 4 1054 c.1007C>T c.(1006-1008)aCg>aTg p.T336M ANKS6_ENST00000375019.2_Missense_Mutation_p.T35M|ANKS6_ENST00000540940.1_Missense_Mutation_p.T141M|ANKS6_ENST00000375018.1_Missense_Mutation_p.T336M Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 336 endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) CAGCTGCCCCGTAACAGCTGC 0.607000 22 43 0 0 1 0 0 ANKRD30BL 554226 broad.mit.edu 37 2 132905792 132905792 + Missense_Mutation SNP G G C rs143919579 by1000genomes TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr2:132905792G>C ENST00000409867.1 - 6 938 c.689C>G c.(688-690)tCt>tGt p.S230C ANKRD30BL_ENST00000470729.1_5'UTR ankyrin repeat domain 30B-like p.S230C(2) endometrium(1)|kidney(3) 4 TGTTCCTTCAGATGTTCCTTC 0.443000 4 29 0 0 1 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98849305 98849305 + RNA SNP C C G TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr12:98849305C>G ENST00000554295.1 - 0 1618 NR_033801.1 GATGCTAACTCTGATATTAAG 0.512000 3 9 0 0 1 0 0 ABO 28 broad.mit.edu 37 9 136131236 136131236 + RNA SNP G G A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr9:136131236G>A ENST00000453660.2 - 0 892 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) CCTCGATGCCGTTGGCCTGGT 0.642000 15 47 0 0 1 0 0 BICD2 23299 broad.mit.edu 37 9 95491374 95491374 + Missense_Mutation SNP G G A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr9:95491374G>A ENST00000356884.6 - 2 452 c.385C>T c.(385-387)Cgc>Tgc p.R129C BICD2_ENST00000375512.3_Missense_Mutation_p.R129C NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 129 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 AGGACATTGCGCAACTGCTTC 0.632000 4 61 0 0 1 0 0 OSBPL6 114880 broad.mit.edu 37 2 179238641 179238641 + Missense_Mutation SNP C C T TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr2:179238641C>T ENST00000190611.4 + 15 1796 c.1420C>T c.(1420-1422)Ctc>Ttc p.L474F OSBPL6_ENST00000315022.2_Missense_Mutation_p.L478F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.L438F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.L443F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.L499F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.L438F|OSBPL6_ENST00000357080.4_Missense_Mutation_p.L407F NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 474 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) CCATGTCAGTCTCCCCTTATC 0.463000 3 32 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 6 26 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4829945 4829945 + Missense_Mutation SNP G G A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr1:4829945G>A ENST00000378191.4 + 3 1243 c.862G>A c.(862-864)Gtc>Atc p.V288I AJAP1_ENST00000378190.3_Missense_Mutation_p.V288I NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 288 cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CACCATCACCGTCTCCCTCAT 0.547000 5 154 0 0 1 0 0 ORAI3 93129 broad.mit.edu 37 16 30960832 30960832 + Silent SNP C C T TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr16:30960832C>T ENST00000318663.4 + 1 446 c.222C>T c.(220-222)ttC>ttT p.F74F ORAI3_ENST00000566237.1_Silent_p.F74F|ORAI3_ENST00000562699.1_Silent_p.F74F|AC135048.13_ENST00000566056.1_RNA NM_152288.2 NP_689501.1 Q9BRQ5 ORAI3_HUMAN ORAI calcium release-activated calcium modulator 3 74 integral to membrane protein binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 6 TCTCGGGCTTCGCCATGGTGA 0.692000 6 11 0 0 1 0 0 TC2N 123036 broad.mit.edu 37 14 92266688 92266688 + Silent SNP G G A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr14:92266688G>A ENST00000435962.2 - 5 821 c.498C>T c.(496-498)ccC>ccT p.P166P TC2N_ENST00000360594.5_Silent_p.P166P|TC2N_ENST00000556018.1_Silent_p.P166P|TC2N_ENST00000340892.5_Silent_p.P166P NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 166 nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) CAGGGGAACCGGGAAGTTTGT 0.318000 3 34 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41372017 41372017 + Missense_Mutation SNP C C T TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr15:41372017C>T ENST00000361937.3 - 9 1437 c.1013G>A c.(1012-1014)cGc>cAc p.R338H INO80_ENST00000401393.3_Missense_Mutation_p.R338H Q9ULG1 INO80_HUMAN INO80 complex subunit 338 Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 CTTGGTGAGGCGGCGGGCACG 0.527000 51 134 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29911150 29911150 + Missense_Mutation SNP T T A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr6:29911150T>A ENST00000396634.1 + 5 790 c.449T>A c.(448-450)cTg>cAg p.L150Q HLA-A_ENST00000376806.5_Missense_Mutation_p.L150Q|HLA-A_ENST00000376809.5_Missense_Mutation_p.L150Q|HLA-A_ENST00000376802.2_Missense_Mutation_p.L150Q P30443 1A01_HUMAN major histocompatibility complex, class I, A 150 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TACATCGCCCTGAACGAGGAC 0.647000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 5 11 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 38 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678383 100678383 + Missense_Mutation SNP C C T TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr7:100678383C>T ENST00000306151.4 + 3 3750 c.3686C>T c.(3685-3687)aCg>aTg p.T1229M NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1229 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) GTCAGACACACGCCAGTGGCC 0.522000 109 287 0 0 1 0 0 PTTG1IP 754 broad.mit.edu 37 21 46276126 46276126 + Missense_Mutation SNP C C T rs143122508 TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr21:46276126C>T ENST00000330938.3 - 4 651 c.431G>A c.(430-432)cGg>cAg p.R144Q PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_Missense_Mutation_p.R123Q NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 144 protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) CTGCCGTATCCGCCTCTCCTC 0.597000 33 80 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 39 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12502748 12502748 + Missense_Mutation SNP G G A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr19:12502748G>A ENST00000419318.1 - 4 1117 c.368C>T c.(367-369)tCa>tTa p.S123L ZNF799_ENST00000430385.3_Missense_Mutation_p.S155L|CTD-3105H18.14_ENST00000435033.1_Intron Q96GE5 ZN799_HUMAN zinc finger protein 799 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TGTTTGAAGTGAGTTGTGGTA 0.423000 40 64 0 0 1 0 0 ZNF788 388507 broad.mit.edu 37 19 12221164 12221164 + Silent SNP C C T TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr19:12221164C>T ENST00000430298.2 + 2 253 c.48C>T c.(46-48)gaC>gaT p.D16D ZNF788_ENST00000596883.1_Silent_p.D36D|ZNF788_ENST00000339302.4_5'UTR|ZNF20_ENST00000600335.1_Intron zinc finger family member 788 endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 2 TCACCCCAGACGAGTGGGCTT 0.473000 30 47 0 0 1 0 0 CDK15 65061 broad.mit.edu 37 2 202687545 202687545 + Silent SNP G G A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr2:202687545G>A ENST00000450471.2 + 5 548 c.462G>A c.(460-462)aaG>aaA p.K154K CDK15_ENST00000260967.2_Silent_p.K103K|CDK15_ENST00000374598.4_Silent_p.K154K|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000434439.1_Silent_p.K154K|CDK15_ENST00000410091.3_Silent_p.K103K NM_001261435.1 NP_001248364.1 Q96Q40 CDK15_HUMAN cyclin-dependent kinase 15 154 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1) 26 Adenosine triphosphate(DB00171) CTCTCCTGAAGGGTTTGAAAC 0.348000 33 28 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64527080 64527080 + Missense_Mutation SNP G G A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr3:64527080G>A ENST00000498707.1 - 35 5645 c.5303C>T c.(5302-5304)gCg>gTg p.A1768V ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1740V NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1768 GON. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GTGCATCCCCGCACAGAATAT 0.463000 4 114 0 0 1 0 0 SPDL1 54908 broad.mit.edu 37 5 169015518 169015518 + Missense_Mutation SNP G G A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr5:169015518G>A ENST00000265295.4 + 2 377 c.98G>A c.(97-99)aGt>aAt p.S33N SPDL1_ENST00000510751.1_3'UTR NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 CTAGTAGAGAGTCAAAATGAA 0.408000 20 38 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36190922 36190922 + Silent SNP C C A rs145761488 byFrequency TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr14:36190922C>A ENST00000258840.6 - 16 2628 c.2238G>T c.(2236-2238)gcG>gcT p.A746A RALGAPA1_ENST00000307138.6_Silent_p.A746A|RALGAPA1_ENST00000389698.3_Silent_p.A746A|RALGAPA1_ENST00000382366.3_Silent_p.A746A|RALGAPA1_ENST00000554704.1_5'UTR Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 746 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CTATACTCCTCGCCTTTTCGG 0.443000 4 106 0.00909568 0.00909568 1 1 0 RAB17 64284 broad.mit.edu 37 2 238483701 238483701 + Missense_Mutation SNP G G T TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr2:238483701G>T ENST00000264601.3 - 6 1229 c.600C>A c.(598-600)aaC>aaA p.N200K RAB17_ENST00000409822.1_Missense_Mutation_p.N73K|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000538644.1_Missense_Mutation_p.N73K NM_022449.3 NP_071894.1 Q9H0T7 RAB17_HUMAN RAB17, member RAS oncogene family 200 protein transport|small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1) 4 Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221) Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026) CGGGCCCCTTGTTCAGAGCCA 0.657000 22 16 1.03073e-24 1.07758e-24 1 1 0 NMU 10874 broad.mit.edu 37 4 56473603 56473603 + Splice_Site DEL C C - TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr4:56473603delC ENST00000264218.3 - 5 415 c.e5+1 NMU_ENST00000515325.1_Splice_Site|NMU_ENST00000505262.1_Intron|NMU_ENST00000511469.1_Splice_Site|NMU_ENST00000507338.1_Splice_Site NM_006681.2 NP_006672.1 P48645 NMU_HUMAN neuromedin U neuropeptide signaling pathway extracellular region lung(3)|ovary(1)|urinary_tract(1) 5 Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.103) LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559) LUSC - Lung squamous cell carcinoma(721;0.0115) AATCATCTTACCCTTTTAGTA 0.204 2 4 --- --- --- --- RASA4CP 401331 broad.mit.edu 37 7 44069235 44069236 + RNA INS - - A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr7:44069235_44069236insA ENST00000446874.1 - 0 623 CTCTCCCTGTGGGGGAGGTCAG 0.678 2 4 --- --- --- --- CTBP2P3 220147 broad.mit.edu 37 18 58330447 58330448 + RNA INS - - T TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chr18:58330447_58330448insT ENST00000591869.1 - 0 228 CCACCATGGCCTTCTGTGATAC 0.624 2 4 --- --- --- --- IRS4 8471 broad.mit.edu 37 X 107979125 107979126 + Frame_Shift_Ins INS - - A TCGA-QK-A6IF-01A-11D-A31L-08 TCGA-QK-A6IF-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80841ea-55be-4fc9-9353-604846afea4b 670a32a1-f498-40b8-96cc-ad24ebe37796 g.chrX:107979125_107979126insA ENST00000372129.2 - 1 525_526 c.449_450insT c.(448-450)ctafs p.L150fs NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 150 PH. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 AGCACTGGTATAGGGTGATCAC 0.644 26 22 --- --- --- ---