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 HRC 3270 broad.mit.edu 37 19 49657720 49657720 + Missense_Mutation SNP C C G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr19:49657720C>G ENST00000252825.4 - 1 961 c.775G>C c.(775-777)Gat>Cat p.D259H HRC_ENST00000595625.1_Missense_Mutation_p.D259H NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 259 4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Asp-rich (acidic). muscle contraction sarcoplasmic reticulum lumen calcium ion binding p.D259H(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) Acatcatcatcatcatcatca 0.488000 4 34 0 0 0.009096 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76486488 76486488 + Missense_Mutation SNP C C A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr16:76486488C>A ENST00000307431.8 + 9 1537 c.1152C>A c.(1150-1152)gaC>gaA p.D384E CNTNAP4_ENST00000377504.4_Missense_Mutation_p.D336E|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.D312E|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.D388E NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 385 cell adhesion|signal transduction integral to membrane receptor binding p.D384E(1)|p.D312E(1)|p.D360E(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CACTGCCAGACTTCTCTGGAG 0.438000 11 155 3.86212e-05 4.7421e-05 0.008291 1 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 85 0 0 0.009096 0 0 RPS6KA3 6197 broad.mit.edu 37 X 20195194 20195194 + Missense_Mutation SNP A A G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chrX:20195194A>G ENST00000379565.3 - 11 1061 c.854T>C c.(853-855)cTt>cCt p.L285P RPS6KA3_ENST00000540702.1_Missense_Mutation_p.L257P|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.L257P|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.L256P NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 285 Protein kinase 1. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity p.L285P(1) breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 TGGCATTCCAAGTTTGGCTCT 0.284000 45 154 0 0 0.014410 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298988 125298988 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chrX:125298988C>T ENST00000538699.1 - 2 1000 c.920G>A c.(919-921)cGa>cAa p.R307Q DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R307Q NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 307 p.R307Q(2) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CACATTCTCTCGGCAGTAGGG 0.607000 23 245 0 0 0.003954 0 0 MAP2K7 5609 broad.mit.edu 37 19 7975197 7975197 + Missense_Mutation SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr19:7975197G>A ENST00000545011.1 + 4 577 c.512G>A c.(511-513)gGc>gAc p.G171D MAP2K7_ENST00000397981.3_Missense_Mutation_p.G129D|MAP2K7_ENST00000397979.3_Missense_Mutation_p.G129D|MAP2K7_ENST00000397983.3_Missense_Mutation_p.G145D O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 129 Protein kinase. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G129D(1) breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) ATGGGCAGCGGCACCTGCGGC 0.672000 3 18 0 0 0.009096 0 0 PTBP3 9991 broad.mit.edu 37 9 115092722 115092722 + Splice_Site SNP T T A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr9:115092722T>A ENST00000334318.6 - 2 227 c.42_splice c.e2+1 p.K14_splice PTBP3_ENST00000374255.2_Splice_Site_p.K14_splice|PTBP3_ENST00000487997.1_Intron|PTBP3_ENST00000458258.1_Intron|PTBP3_ENST00000343327.2_Intron|PTBP3_ENST00000374257.1_Intron NM_001163790.2|NM_005156.6 NP_001157262.1|NP_005147.3 O95758 ROD1_HUMAN polypyrimidine tract binding protein 3 14 anatomical structure morphogenesis|mRNA processing nucleus nucleotide binding|RNA binding p.K14M(1) GATTCCTACCTTTAAACCGAC 0.289000 13 62 0 0 0.004990 0 0 BBS10 79738 broad.mit.edu 37 12 76740459 76740459 + Missense_Mutation SNP T T C TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr12:76740459T>C ENST00000393262.3 - 2 1389 c.1306A>G c.(1306-1308)Acc>Gcc p.T436A NM_024685.3 NP_078961.3 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 436 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding p.T436A(1) endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1) 19 TGGTCATTGGTTTGTGTCATG 0.368000 Bardet-Biedl syndrome 3 166 0 0 0.004672 0 0 MYEOV2 150678 broad.mit.edu 37 2 241073371 241073371 + Missense_Mutation SNP C C A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr2:241073371C>A ENST00000307266.3 - 2 207 c.208G>T c.(208-210)Gtt>Ttt p.V70F MYEOV2_ENST00000607357.1_Missense_Mutation_p.V39F|MYEOV2_ENST00000489698.1_5'UTR NM_138336.1 NP_612209.1 Q8WXC6 MYOV2_HUMAN myeloma overexpressed 2 39 p.V70F(1) breast(1)|lung(5)|pancreas(1) 7 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) TCTGCATGAACGGCCTTTTCA 0.483000 41 103 6.48837e-15 8.99102e-15 0.010771 1 0 DYNLL2 140735 broad.mit.edu 37 17 56166633 56166633 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr17:56166633C>T ENST00000240343.6 + 3 541 c.263C>T c.(262-264)tCa>tTa p.S88L NM_080677.2 NP_542408.1 Q96FJ2 DYL2_HUMAN dynein, light chain, LC8-type 2 88 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane motor activity p.S88L(1) lung(3) 3 CTCTTCAAGTCAGGCTAGGTG 0.532000 6 68 0 0 0.001168 0 0 CCT7 10574 broad.mit.edu 37 2 73467659 73467659 + Silent SNP C C A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr2:73467659C>A ENST00000539919.1 + 4 494 c.123C>A c.(121-123)tcC>tcA p.S41S CCT7_ENST00000398422.2_Intron|CCT7_ENST00000258091.5_Silent_p.S85S|CCT7_ENST00000537131.1_Intron|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000540468.1_Intron|CCT7_ENST00000473786.1_Intron NM_001166285.1 NP_001159757.1 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 (eta) 85 'de novo' posttranslational protein folding ATP binding|unfolded protein binding p.S85S(1) breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1) 7 TTGCCAAATCCCAAGATGCTG 0.373000 6 48 3.59834e-05 4.47485e-05 0.001168 1 0 ESRP2 80004 broad.mit.edu 37 16 68266596 68266596 + Silent SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr16:68266596G>A ENST00000565858.1 - 7 821 c.735C>T c.(733-735)ccC>ccT p.P245P ESRP2_ENST00000473183.2_Intron NM_024939.2 NP_079215.2 Q9H6T0 ESRP2_HUMAN epithelial splicing regulatory protein 2 245 mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding p.?(2) NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 TGCTGCTGTAGGGGCAGGGCA 0.587000 24 113 0 0 0.002780 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026419 129026419 + Nonsense_Mutation SNP G G A rs139541363 by1000genomes TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr2:129026419G>A ENST00000259241.6 - 2 566 c.553C>T c.(553-555)Cga>Tga p.R185* NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 185 3'-phosphate binding (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity p.R185*(2) endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) ACGGGGTCTCGTAGCAGGGTG 0.627000 4 53 0 0 0.003080 0 0 BRD1 23774 broad.mit.edu 37 22 50216780 50216780 + Silent SNP T T G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr22:50216780T>G ENST00000216267.8 - 1 1672 c.1186A>C c.(1186-1188)Agg>Cgg p.R396R BRD1_ENST00000404760.1_Silent_p.R396R|BRD1_ENST00000457780.2_Silent_p.R396R|BRD1_ENST00000542442.1_Silent_p.R35R|BRD1_ENST00000404034.1_Silent_p.R396R|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000342989.5_5'UTR NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 396 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding p.R396R(1) endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) TTCAGAGGCCTCCGGGTGCAG 0.532000 5 209 0 0 0.001168 0 0 TEKT5 146279 broad.mit.edu 37 16 10788536 10788536 + Silent SNP C C A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr16:10788536C>A ENST00000283025.2 - 1 266 c.195G>T c.(193-195)ccG>ccT p.P65P NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 65 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.P65P(1) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 TGCTCTCGTCCGGGCAGGTCT 0.612000 21 91 1.96895e-08 2.65261e-08 0.002780 1 0 NPY1R 4886 broad.mit.edu 37 4 164247318 164247318 + Missense_Mutation SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr4:164247318G>A ENST00000296533.2 - 2 920 c.389C>T c.(388-390)tCt>tTt p.S130F NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 130 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding p.S130F(1) breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GAGAACCAGAGAGAAAATGGA 0.423000 13 61 0 0 0.003163 0 0 ACHE 43 broad.mit.edu 37 7 100491461 100491461 + Silent SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr7:100491461G>A ENST00000302913.4 - 2 531 c.393C>T c.(391-393)aaC>aaT p.N131N ACHE_ENST00000241069.5_Silent_p.N131N|ACHE_ENST00000428317.1_Silent_p.N131N|ACHE_ENST00000419336.2_Silent_p.N131N|ACHE_ENST00000412389.1_Silent_p.N131N|ACHE_ENST00000411582.1_Silent_p.N131N NM_015831.2 NP_056646.1 P22303 ACES_HUMAN acetylcholinesterase 131 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity p.N131N(2) large_intestine(3)|lung(7)|skin(3)|urinary_tract(3) 16 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) GTGTCCACACGTTGAGGTACA 0.592000 5 140 0 0 0.001168 0 0 SPATA16 83893 broad.mit.edu 37 3 172835183 172835183 + Silent SNP A A G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr3:172835183A>G ENST00000351008.3 - 2 522 c.339T>C c.(337-339)ccT>ccC p.P113P NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 113 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding p.P113P(1) breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) AGGGGATGTGAGGCAGAGGCA 0.413000 3 131 0 0 0.004672 0 0 FRAS1 80144 broad.mit.edu 37 4 79410160 79410160 + Missense_Mutation SNP G G T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr4:79410160G>T ENST00000264895.6 + 59 9324 c.8884G>T c.(8884-8886)Gct>Tct p.A2962S NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2957 Calx-beta 4. cell communication integral to membrane|plasma membrane metal ion binding p.A2963S(1)|p.A2962S(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GAGCCATTCCGCTCAGGTCAT 0.502000 10 50 7.48243e-07 9.80805e-07 0.006214 1 0 DAGLA 747 broad.mit.edu 37 11 61508792 61508792 + Silent SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr11:61508792G>A ENST00000257215.5 + 19 2258 c.2142G>A c.(2140-2142)ccG>ccA p.P714P NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 714 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity p.P714P(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) TGGAGCTGCCGACTGCAGACC 0.642000 9 30 0 0 0.008291 0 0 ARID3B 10620 broad.mit.edu 37 15 74883672 74883672 + Silent SNP T T C TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr15:74883672T>C ENST00000346246.5 + 6 1293 c.1062T>C c.(1060-1062)ctT>ctC p.L354L NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 354 Interaction with RB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.L354L(1) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 CCCCTGCCCTTCTCTCCCCAC 0.647000 3 96 0 0 0.004672 0 0 CHRM2 1129 broad.mit.edu 37 7 136700046 136700046 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr7:136700046C>T ENST00000445907.2 + 3 962 c.434C>T c.(433-435)gCa>gTa p.A145V CHRM2_ENST00000401861.1_Missense_Mutation_p.A145V|CHRM2_ENST00000320658.5_Missense_Mutation_p.A145V|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.A145V|CHRM2_ENST00000397608.3_Missense_Mutation_p.A145V|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.A145V NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 145 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding p.A145V(1) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) ATGATGATTGCAGCTGCCTGG 0.498000 5 173 0 0 0.001168 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857312 9857312 + Silent SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr16:9857312G>A ENST00000396573.2 - 14 4398 c.4089C>T c.(4087-4089)tcC>tcT p.S1363S GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000330684.3_Silent_p.S1363S|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000396575.2_Silent_p.S1363S NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1363 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.S1363S(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAGGGTTATCGGAGGTGTGGT 0.557000 19 81 0 0 0.007413 0 0 CEBPZ 10153 broad.mit.edu 37 2 37454813 37454813 + Missense_Mutation SNP A A G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr2:37454813A>G ENST00000234170.5 - 2 1668 c.1523T>C c.(1522-1524)aTt>aCt p.I508T NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 508 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding p.I508T(1) breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) CAGTGTGTCAATCTGCTCCCT 0.378000 15 57 0 0 0.002450 0 0 GPATCH1 55094 broad.mit.edu 37 19 33584407 33584407 + Missense_Mutation SNP A A G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr19:33584407A>G ENST00000170564.2 + 4 751 c.437A>G c.(436-438)gAc>gGc p.D146G NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 146 catalytic step 2 spliceosome nucleic acid binding p.D146G(1) breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) CTCCTTGATGACCTCATAACG 0.478000 3 166 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179584290 179584290 + Missense_Mutation SNP G G C TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr2:179584290G>C ENST00000589042.1 - 82 24153 c.23929C>G c.(23929-23931)Cat>Gat p.H7977D TTN_ENST00000591111.1_Missense_Mutation_p.H7660D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.H6733D|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7660 Ig-like 62. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.H6733D(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCAGAAACATGGACGGATACA 0.398000 28 254 0 0 0.007291 0 0 CDH10 1008 broad.mit.edu 37 5 24537504 24537504 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr5:24537504C>T ENST00000264463.4 - 3 1018 c.511G>A c.(511-513)Gaa>Aaa p.E171K NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 171 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E171K(2) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) ACAGACATTTCGGGAACACTA 0.333000 HNSCC(23;0.051) 17 198 0 0 0.004990 0 0 ANK2 287 broad.mit.edu 37 4 114170985 114170985 + Missense_Mutation SNP G G T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr4:114170985G>T ENST00000357077.4 + 10 1010 c.957G>T c.(955-957)ttG>ttT p.L319F ANK2_ENST00000394537.3_Missense_Mutation_p.L319F|ANK2_ENST00000506722.1_Missense_Mutation_p.L298F|ANK2_ENST00000264366.6_Missense_Mutation_p.L319F NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 319 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.L319F(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AACTTCTGTTGGAACGGGGTG 0.453000 17 57 1.15919e-05 1.46027e-05 0.008871 1 0 DCDC1 341019 broad.mit.edu 37 11 31312327 31312327 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr11:31312327C>T ENST00000597505.1 - 5 826 c.827G>A c.(826-828)cGg>cAg p.R276Q DCDC1_ENST00000452803.1_Missense_Mutation_p.R276Q P59894 DCDC1_HUMAN doublecortin domain containing 1 276 intracellular signal transduction p.R276Q(1)|p.R276L(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CTTGGTTTTCCGTCTTTTGAT 0.378000 9 73 0 0 0.006214 0 0 NRXN2 9379 broad.mit.edu 37 11 64434911 64434911 + Missense_Mutation SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr11:64434911G>A ENST00000265459.6 - 9 2070 c.1609C>T c.(1609-1611)Cgg>Tgg p.R537W NRXN2_ENST00000377551.1_Missense_Mutation_p.R537W|NRXN2_ENST00000377559.3_Missense_Mutation_p.R506W|NRXN2_ENST00000409571.1_Missense_Mutation_p.R530W NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 537 Laminin G-like 3. cell adhesion integral to membrane metal ion binding p.R537W(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CCCCCAGCCCGCCGGCCCTGG 0.657000 11 69 0 0 0.010729 0 0 SCN7A 6332 broad.mit.edu 37 2 167327178 167327178 + Missense_Mutation SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr2:167327178G>A ENST00000409855.1 - 6 737 c.611C>T c.(610-612)aCg>aTg p.T204M NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 204 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.T204M(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 AGTTTGAAGCGTTGGAATGAA 0.299000 6 34 0 0 0.004482 0 0 AKAP9 10142 broad.mit.edu 37 7 91645514 91645514 + Silent SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr7:91645514G>A ENST00000359028.2 + 12 3945 c.3720G>A c.(3718-3720)gaG>gaA p.E1240E AKAP9_ENST00000358100.2_Silent_p.E1240E|AKAP9_ENST00000356239.3_Silent_p.E1228E Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1240 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding p.E1240E(1)|p.E1228E(1) NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAGACAAAGAGAATTCTGGTG 0.294000 T BRAF papillary thyroid 6 51 0 0 0.001168 0 0 ADCY2 108 broad.mit.edu 37 5 7706887 7706887 + Silent SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr5:7706887C>T ENST00000338316.4 + 8 1229 c.1140C>T c.(1138-1140)atC>atT p.I380I ADCY2_ENST00000537121.1_Silent_p.I200I NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 380 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding p.I380I(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GAGTTGATATCAACATGCGCG 0.463000 16 242 0 0 0.004990 0 0 CORO2A 7464 broad.mit.edu 37 9 100893269 100893269 + Missense_Mutation SNP C C G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr9:100893269C>G ENST00000343933.5 - 7 1095 c.838G>C c.(838-840)Gcg>Ccg p.A280P CORO2A_ENST00000375077.4_Missense_Mutation_p.A280P NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 280 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding p.A280P(1) endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) CTGGTGTCCGCGTCATAGAAG 0.652000 3 26 0 0 0.009096 0 0 SLC22A2 6582 broad.mit.edu 37 6 160679385 160679385 + Silent SNP G G T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr6:160679385G>T ENST00000366952.1 - 3 1823 c.342C>A c.(340-342)atC>atA p.I114I SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Silent_p.I135I O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 135 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity p.I135I(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) CCTCGGTGACGATGGACGAGC 0.617000 7 76 2.7689e-08 3.67922e-08 0.001984 1 0 ADAM19 8728 broad.mit.edu 37 5 156915310 156915310 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr5:156915310C>T ENST00000257527.4 - 21 2591 c.2513G>A c.(2512-2514)cGg>cAg p.R838Q ADAM19_ENST00000394020.1_Missense_Mutation_p.R840Q|ADAM19_ENST00000430702.2_Missense_Mutation_p.R571Q|ADAM19_ENST00000517905.1_Missense_Mutation_p.R838Q NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 838 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding p.R838Q(1)|p.R839Q(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGGAATTGGCCGGCTTGGAGG 0.572000 17 145 0 0 0.006122 0 0 SSNA1 8636 broad.mit.edu 37 9 140083651 140083651 + Silent SNP A A G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr9:140083651A>G ENST00000322310.5 + 2 266 c.186A>G c.(184-186)gcA>gcG p.A62A SSNA1_ENST00000459860.1_3'UTR NM_003731.2 NP_003722.2 O43805 SSNA1_HUMAN Sjogren syndrome nuclear autoantigen 1 62 G2/M transition of mitotic cell cycle centrosome|cytosol|nucleus p.A62A(1) breast(2)|kidney(1)|large_intestine(1)|lung(2) 6 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087) AGAACCTGGCACGCAAGATTG 0.647000 5 24 0 0 0.001168 0 0 SNX31 169166 broad.mit.edu 37 8 101612642 101612642 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr8:101612642C>T ENST00000311812.2 - 9 859 c.709G>A c.(709-711)Gcc>Acc p.A237T SNX31_ENST00000428383.2_Missense_Mutation_p.A138T NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 237 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) GTGGGTTTGGCCCATCCTTTT 0.363000 4 235 0 0 0.001168 0 0 LYST 1130 broad.mit.edu 37 1 235950598 235950598 + Silent SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr1:235950598G>A ENST00000389794.3 - 14 4938 c.4764C>T c.(4762-4764)ctC>ctT p.L1588L LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Silent_p.L1588L Q99698 LYST_HUMAN lysosomal trafficking regulator 1588 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding p.L1588L(1) NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ATTTGCTTGGGAGGAAAATAT 0.423000 45 148 0 0 0.013114 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77398246 77398246 + Missense_Mutation SNP G G C TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr16:77398246G>C ENST00000282849.5 - 5 1229 c.811C>G c.(811-813)Cta>Gta p.L271V NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 271 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.L271V(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TCAAACCTTAGATAGGTGTCC 0.468000 4 78 0 0 0.009096 0 0 SALL1 6299 broad.mit.edu 37 16 51173150 51173150 + Missense_Mutation SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr16:51173150G>A ENST00000440970.1 - 2 3123 c.2692C>T c.(2692-2694)Cgg>Tgg p.R898W SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.R995W|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 995 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R995W(2) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AATTTACCCCGGTCTCTAAAA 0.433000 6 85 0 0 0.001168 0 0 FKBP2 2286 broad.mit.edu 37 11 64011314 64011314 + Splice_Site SNP G G T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr11:64011314G>T ENST00000394540.3 + 5 803 c.331_splice c.e5-1 p.G111_splice FKBP2_ENST00000449942.2_Splice_Site_p.G111_splice|FKBP2_ENST00000309366.4_Splice_Site_p.G111_splice NM_057092.2 NP_476433.1 P26885 FKBP2_HUMAN FK506 binding protein 2, 13kDa 111 PPIase FKBP-type. protein folding endoplasmic reticulum membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding p.G111G(1) endometrium(2)|lung(3) 5 CTTCAACAGGGTATGGAGAGC 0.562000 32 134 3.86903e-22 5.43907e-22 0.013726 1 0 MED14 9282 broad.mit.edu 37 X 40569230 40569230 + Splice_Site SNP C C A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chrX:40569230C>A ENST00000324817.1 - 9 1292 c.e9+1 NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.?(1) NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AGATCTTTTACCTTCATGGCT 0.303000 13 33 0.000151284 0.000183432 0.001855 1 0 LOXL4 84171 broad.mit.edu 37 10 100011426 100011426 + Missense_Mutation SNP C C G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr10:100011426C>G ENST00000260702.3 - 13 2135 c.1985G>C c.(1984-1986)gGa>gCa p.G662A NM_032211.6 NP_115587.6 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 662 Lysyl-oxidase like. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity p.G662A(1) breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2) 26 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) TCCCTGTTCTCCAAAGTTGGC 0.527000 3 56 0 0 0.004672 0 0 AR 367 broad.mit.edu 37 X 66931530 66931530 + Splice_Site SNP T T A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chrX:66931530T>A ENST00000374690.3 + 4 2696 c.2173_splice c.e4+1 p.P724_splice AR_ENST00000396044.3_Splice_Site_p.P724_splice|AR_ENST00000396043.2_Splice_Site_p.P192_splice NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 723 Interaction with MYST2.|Ligand-binding. G -> D (in AIS and prostate cancer). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.P534P(1)|p.P724P(1) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) AGGCCTTGCCTGGTAAGGAAA 0.517000 Androgen Insensitivity Syndrome 11 71 0 0 0.013537 0 0 KCNV2 169522 broad.mit.edu 37 9 2719006 2719006 + Missense_Mutation SNP T T G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr9:2719006T>G ENST00000382082.3 + 1 1505 c.1267T>G c.(1267-1269)Ttc>Gtc p.F423V NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 423 voltage-gated potassium channel complex voltage-gated potassium channel activity p.F423V(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) CATGGGCATCTTCACTTTCTC 0.632000 5 35 0 0 0.000602 0 0 OR1E1 8387 broad.mit.edu 37 17 3301440 3301440 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr17:3301440C>T ENST00000322608.2 - 1 264 c.265G>A c.(265-267)Gac>Aac p.D89N NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D89N(1) endometrium(3)|large_intestine(2)|lung(5) 10 ATGGATGGGTCCTGGTTCTGC 0.507000 7 46 0 0 0.003080 0 0 SFMBT2 57713 broad.mit.edu 37 10 7409719 7409719 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr10:7409719C>T ENST00000361972.4 - 4 418 c.328G>A c.(328-330)Ggt>Agt p.G110S SFMBT2_ENST00000397160.3_Missense_Mutation_p.G110S|SFMBT2_ENST00000379711.2_Missense_Mutation_p.G110S|SFMBT2_ENST00000379713.3_Missense_Mutation_p.G110S|SFMBT2_ENST00000397167.1_Missense_Mutation_p.G110S NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 110 regulation of transcription, DNA-dependent nucleus p.G110S(1) NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 TCCCCGTAACCGCAGTAGCGC 0.572000 4 25 0 0 0.009096 0 0 F9 2158 broad.mit.edu 37 X 138630531 138630531 + Missense_Mutation SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chrX:138630531G>A ENST00000218099.2 + 5 408 c.401G>A c.(400-402)tGt>tAt p.C134Y F9_ENST00000479617.1_3'UTR|F9_ENST00000394090.2_Missense_Mutation_p.C96Y NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 134 EGF-like 2. C -> Y (in HEMB). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity p.C134Y(1) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) GATGTAACATGTAACATTAAG 0.363000 9 234 0 0 0.006214 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460326 107460326 + Silent SNP A A G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr2:107460326A>G ENST00000409382.3 - 2 718 c.108T>C c.(106-108)gcT>gcC p.A36A ST6GAL2_ENST00000361686.4_Silent_p.A36A|ST6GAL2_ENST00000409087.3_Silent_p.A36A NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 36 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.A36A(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GTACAGGCTCAGCGGGGTTGC 0.582000 4 65 0 0 0.000602 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92981770 92981770 + Missense_Mutation SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr15:92981770G>A ENST00000268164.3 + 4 715 c.478G>A c.(478-480)Gtg>Atg p.V160M ST8SIA2_ENST00000539113.1_Missense_Mutation_p.V139M NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 160 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity p.V160M(1) endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) TTGTGCCATCGTGGGCAACTC 0.582000 4 64 0 0 0.009096 0 0 CXADRP3 440224 broad.mit.edu 37 18 14479126 14479126 + RNA SNP A A T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr18:14479126A>T ENST00000581457.1 - 0 782 NR_024076.1 CCTGGTCTTCAGGACTAAGCG 0.418000 3 18 0 0 0.004672 0 0 DNAJC2 27000 broad.mit.edu 37 7 102956536 102956536 + Splice_Site SNP C C G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr7:102956536C>G ENST00000379263.3 - 14 1678 c.e14-1 PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Splice_Site NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding p.?(2) endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 AACTTCCCATCTGATAGGATA 0.308000 5 53 0 0 0.000602 0 0 ARSD 414 broad.mit.edu 37 X 2828021 2828021 + Splice_Site SNP C C G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chrX:2828021C>G ENST00000381154.1 - 8 1211 c.e8-1 NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D lysosome arylsulfatase activity|metal ion binding p.?(1) large_intestine(3)|lung(3) 6 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) CCCTTCCCACCTGTAAGTAGA 0.577000 19 60 0 0 0.008871 0 0 BASP1 10409 broad.mit.edu 37 5 17275411 17275411 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr5:17275411C>T ENST00000322611.3 + 2 346 c.86C>T c.(85-87)gCg>gTg p.A29V NM_001271606.1|NM_006317.3 NP_001258535.1|NP_006308.3 P80723 BASP1_HUMAN brain abundant, membrane attached signal protein 1 29 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding p.A29V(2) endometrium(1)|lung(8) 9 GCCGAGGGCGCGGCGACGGAA 0.627000 4 58 0 0 0.009096 0 0 FAM120C 54954 broad.mit.edu 37 X 54209079 54209079 + Missense_Mutation SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chrX:54209079G>A ENST00000375180.2 - 1 609 c.553C>T c.(553-555)Cgt>Tgt p.R185C FAM120C_ENST00000477084.1_Missense_Mutation_p.R185C|FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000328235.4_Missense_Mutation_p.R185C NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 185 p.R185C(1) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 TGGCACCGACGGCCCCACTCG 0.716000 4 38 0 0 0.009096 0 0 RARS 5917 broad.mit.edu 37 5 167922429 167922429 + Missense_Mutation SNP A A G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr5:167922429A>G ENST00000231572.3 + 6 743 c.689A>G c.(688-690)tAt>tGt p.Y230C RARS_ENST00000538719.1_Missense_Mutation_p.Y24C NM_002887.3 NP_002878.2 P54136 SYRC_HUMAN arginyl-tRNA synthetase 230 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding p.Y230C(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) TTTGCAGGGTATGACGTGCTC 0.408000 7 168 0 0 0.001984 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123298731 123298731 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr9:123298731C>T ENST00000349780.4 - 7 760 c.581G>A c.(580-582)cGt>cAt p.R194H CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R194H|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R194H|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R194H NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 194 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding p.R194H(1) breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 GCTTTCCAAACGCAACCGAAG 0.517000 8 65 0 0 0.003080 0 0 SALL1 6299 broad.mit.edu 37 16 51171227 51171227 + Silent SNP G G A rs145423593 TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr16:51171227G>A ENST00000440970.1 - 3 3911 c.3480C>T c.(3478-3480)aaC>aaT p.N1160N SALL1_ENST00000541611.1_Silent_p.N80N|SALL1_ENST00000251020.4_Silent_p.N1257N|SALL1_ENST00000566102.1_3'UTR NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1257 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.N1257N(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GGATGCCACCGTTCTGAATGA 0.577000 6 87 0 0 0.003080 0 0 GRHL1 29841 broad.mit.edu 37 2 10130834 10130834 + Missense_Mutation SNP G G A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr2:10130834G>A ENST00000324907.9 + 10 1416 c.1280G>A c.(1279-1281)cGg>cAg p.R427Q GRHL1_ENST00000324883.5_Missense_Mutation_p.R238Q|GRHL1_ENST00000405379.2_Missense_Mutation_p.R427Q NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 427 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding p.R427Q(1)|p.R238Q(1) cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) GGAGCTGAGCGGAAAATCAGG 0.423000 6 18 0 0 0.001168 0 0 NT5C1B 93034 broad.mit.edu 37 2 18766072 18766072 + Missense_Mutation SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr2:18766072C>T ENST00000304081.4 - 4 531 c.431G>A c.(430-432)cGg>cAg p.R144Q NT5C1B_ENST00000600945.1_Missense_Mutation_p.R204Q|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R204Q|NT5C1B_ENST00000359846.2_Missense_Mutation_p.R204Q NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB p.R204Q(1) endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GGTGCTGCGCCGGGAGCCAGG 0.711000 8 27 0 0 0.004482 0 0 SDK2 54549 broad.mit.edu 37 17 71346817 71346817 + Missense_Mutation SNP G G T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr17:71346817G>T ENST00000392650.3 - 42 5871 c.5871C>A c.(5869-5871)agC>agA p.S1957R SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.S1938R NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1957 cell adhesion integral to membrane p.S1957R(1) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 CGTACTTCTTGCTCTGGCCCC 0.547000 11 48 2.80697e-09 3.83488e-09 0.010729 1 0 ASB17 127247 broad.mit.edu 37 1 76397748 76397748 + Missense_Mutation SNP A A T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr1:76397748A>T ENST00000284142.6 - 1 368 c.229T>A c.(229-231)Tca>Aca p.S77T NM_080868.2 NP_543144.1 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box containing 17 77 intracellular signal transduction p.S77T(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 21 CGGTATCCTGATTTTTCCACA 0.383000 27 71 0 0 0.003954 0 0 EPS15L1 58513 broad.mit.edu 37 19 16548580 16548580 + Splice_Site SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr19:16548580C>T ENST00000597937.1 - 5 314 c.e5+1 EPS15L1_ENST00000248070.6_Splice_Site|EPS15L1_ENST00000455140.2_Splice_Site|EPS15L1_ENST00000594975.1_Splice_Site|EPS15L1_ENST00000535753.2_Splice_Site NM_001258376.1 NP_001245305.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding p.?(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 TGGACACTCACAAATTTAGGC 0.443000 13 57 0 0 0.003163 0 0 SRGAP2-AS1 100873165 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 7 67 --- --- --- --- UBA3 9039 broad.mit.edu 37 3 69129290 69129292 + In_Frame_Del DEL CTT CTT - TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr3:69129290_69129292delCTT ENST00000361055.4 - 2 87_89 c.33_35delAAG c.(31-36)agg>ag p.RR11del UBA3_ENST00000540295.1_Intron|UBA3_ENST00000349511.4_Intron|UBA3_ENST00000415609.2_Intron NM_003968.3 NP_003959.3 Q8TBC4 UBA3_HUMAN ubiquitin-like modifier activating enzyme 3 11 protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) CTCTATTCTCCTTCTTTTCTTCT 0.665 18 57 --- --- --- --- ZNRD1-AS1 80862 broad.mit.edu 37 6 29970905 29970906 + RNA INS - - G rs139061936 by1000genomes TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr6:29970905_29970906insG ENST00000376797.3 - 0 1548 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA gctgaggccctcttcccatggg 0.545 4 3 --- --- --- --- ZNF318 24149 broad.mit.edu 37 6 43305942 43305954 + Frame_Shift_Del DEL TTCTAGAAGCTGA TTCTAGAAGCTGA - TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr6:43305942_43305954delTTCTAGAAGCTGA ENST00000361428.2 - 10 5859_5871 c.5782_5794delTCAGCTTCTAGAA c.(5782-5796)ctfs p.SASRT1928fs ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1928 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TACCTAGAAGTTCTAGAAGCTGATTCTGGAGCT 0.413 27 138 --- --- --- --- CCT6P3 643180 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 7 18 --- --- --- --- GS1-124K5.2 0 broad.mit.edu 37 7 65888988 65888989 + RNA DEL TT TT - rs75924435 TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr7:65888988_65888989delTT ENST00000442578.1 - 0 826 tttttttttctttttttttttt 0.485 2 4 --- --- --- --- CTAGE6 340307 broad.mit.edu 37 7 143453350 143453353 + Frame_Shift_Del DEL CCAA CCAA - TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr7:143453350_143453353delCCAA ENST00000470691.2 - 1 1436_1439 c.1399_1402delTTGG c.(1399-1404)cafs p.LA467fs NM_178561.4 NP_848656.2 CTAGE family, member 6 Melanoma(164;0.0903) GTCCGAGCTGCCAACCAATTATCA 0.348 13 172 --- --- --- --- GLIPR1 11010 broad.mit.edu 37 12 75884200 75884201 + Frame_Shift_Ins INS - - A TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr12:75884200_75884201insA ENST00000266659.3 + 3 636_637 c.435_436insA c.(433-438)gagttafs p.L146fs NM_006851.2 NP_006842.2 P48060 GLIP1_HUMAN GLI pathogenesis-related 1 146 cellular lipid metabolic process extracellular region|integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 14 TTTGGGCAGATAGTTACAAAGT 0.386 14 104 --- --- --- --- CSPG4P5 114817 broad.mit.edu 37 15 84958415 84958426 + RNA DEL CGAGGACATTGG CGAGGACATTGG - TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr15:84958415_84958426delCGAGGACATTGG ENST00000558801.1 - 0 6303_6314 TCGGGCACCACGAGGACATTGGTGAGGACAGG 0.557 4 7 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa6a60f5-8949-4e01-9435-d3117601627f f76ef845-8a03-4b61-b1b2-3f0b4ae5a759 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 2 4 --- --- --- ---