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 CD163 9332 broad.mit.edu 37 12 7653993 7653993 + Missense_Mutation SNP T T C TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr12:7653993T>C ENST00000359156.4 - 3 401 c.199A>G c.(199-201)Aaa>Gaa p.K67E CD163_ENST00000396620.3_Missense_Mutation_p.K67E|CD163_ENST00000432237.2_Missense_Mutation_p.K67E|CD163_ENST00000541972.1_Missense_Mutation_p.K55E NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 67 SRCR 1. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TCCTGGACTTTCACTTCCACT 0.498000 30 53 0 0 0.000339439 0 0 LRBA 987 broad.mit.edu 37 4 151773037 151773037 + Splice_Site SNP C C T TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr4:151773037C>T ENST00000535741.1 - 23 4298 c.3825_splice c.e23+1 p.E1275_splice LRBA_ENST00000507224.1_Splice_Site_p.E1275_splice|LRBA_ENST00000357115.3_Splice_Site_p.E1275_splice|LRBA_ENST00000510413.1_Splice_Site_p.E1275_splice P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1275 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) ATAAAATCACCTCAAGCACAT 0.368000 13 17 0 0 0.00010058 0 0 CELP 1057 broad.mit.edu 37 9 135962226 135962226 + RNA SNP C C T TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr9:135962226C>T ENST00000411440.2 + 0 733 NR_001275.2 CCCTACACTACGGAAAACAGC 0.607000 5 5 0 0 8.12818e-05 0 0 CEL 1056 broad.mit.edu 37 9 135946427 135946427 + Missense_Mutation SNP C C T TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr9:135946427C>T ENST00000372080.4 + 11 1563 c.1547C>T c.(1546-1548)aCg>aTg p.T516M CEL_ENST00000351304.7_Missense_Mutation_p.T447M NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 513 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CCCTACACTACGGAAAACAGC 0.607000 9 70 0 0 0.000151284 0 0 MYO7A 4647 broad.mit.edu 37 11 76867771 76867771 + Missense_Mutation SNP G G C TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:76867771G>C ENST00000409709.3 + 6 808 c.536G>C c.(535-537)aGt>aCt p.S179T MYO7A_ENST00000409893.1_Missense_Mutation_p.S179T|MYO7A_ENST00000458637.2_Missense_Mutation_p.S179T|MYO7A_ENST00000409619.2_Missense_Mutation_p.S168T NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 179 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GCAGCCATCAGTGGGCAGCAC 0.627000 14 1317 0 0 6.40141e-05 0 0 PGK2 5232 broad.mit.edu 37 6 49754466 49754466 + Missense_Mutation SNP A A T TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr6:49754466A>T ENST00000304801.3 - 1 587 c.435T>A c.(433-435)gaT>gaA p.D145E NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 145 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) CTTCTATTTTATCTGGCTCAG 0.507000 41 50 0 0 0.000509022 0 0 DZIP3 9666 broad.mit.edu 37 3 108363492 108363492 + Silent SNP G G A TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr3:108363492G>A ENST00000361582.3 + 14 1853 c.1623G>A c.(1621-1623)ggG>ggA p.G541G DZIP3_ENST00000463306.1_Silent_p.G541G NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 541 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 TGCGCCTTGGGATGATGCAAG 0.408000 23 54 0 0 0.000229342 0 0 CREB3L2 64764 broad.mit.edu 37 7 137612996 137612996 + Silent SNP C C T rs146953741 byFrequency TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr7:137612996C>T ENST00000330387.6 - 2 570 c.219G>A c.(217-219)ccG>ccA p.P73P CREB3L2_ENST00000456390.1_Silent_p.P73P|CREB3L2_ENST00000458726.1_Silent_p.P10P|CREB3L2_ENST00000452463.1_Silent_p.P73P NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 73 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 TGAGAGGCGCCGGGGACGTCG 0.577000 T FUS fibromyxoid sarcoma 12 12 0 0 0.00010058 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555263 44555263 + Silent SNP G G A TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr18:44555263G>A ENST00000330682.2 - 1 1186 c.951C>T c.(949-951)aaC>aaT p.N317N KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 317 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 GCATCTTAGCGTTCACTCTGC 0.647000 25 2551 0 0 0.000442599 0 0 CRB1 23418 broad.mit.edu 37 1 197396945 197396945 + Missense_Mutation SNP C C G TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr1:197396945C>G ENST00000367397.1 + 3 1491 c.633C>G c.(631-633)atC>atG p.I211M CRB1_ENST00000544212.1_Missense_Mutation_p.I311M|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.I718M|CRB1_ENST00000367400.3_Missense_Mutation_p.I830M|CRB1_ENST00000535699.1_Missense_Mutation_p.I761M P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 830 EGF-like 5; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GAGATGTCATCTACATTGGTG 0.373000 9 38 0 0 0.000274275 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60369037 60369037 + Nonsense_Mutation SNP G G A TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr5:60369037G>A ENST00000296597.5 + 2 340 c.213G>A c.(211-213)tgG>tgA p.W71* NDUFAF2_ENST00000512623.1_3'UTR|NDUFAF2_ENST00000511107.1_Intron NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 71 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) CAACAGAATGGGAAGGTAAGT 0.318000 82 132 0 0 0.000147903 0 0 LIM2 3982 broad.mit.edu 37 19 51883857 51883857 + Missense_Mutation SNP C C G TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr19:51883857C>G ENST00000221973.3 - 4 530 c.488G>C c.(487-489)gGa>gCa p.G163A LIM2_ENST00000596399.1_Missense_Mutation_p.G121A NM_030657.3 NP_085915.2 P55344 LMIP_HUMAN lens intrinsic membrane protein 2, 19kDa 121 cell-cell junction assembly cell junction|integral to membrane structural constituent of eye lens endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985) GACGGTGACTCCAGTGTAGAT 0.612000 16 38 0 0 0.000422831 0 0 GRIN3A 116443 broad.mit.edu 37 9 104499855 104499855 + Missense_Mutation SNP T T C TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr9:104499855T>C ENST00000361820.3 - 1 1007 c.407A>G c.(406-408)aAc>aGc p.N136S NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 136 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TTCCACGCGGTTCAGGTTGTC 0.672000 3 10 0 0 1.23904e-05 0 0 DIS3 22894 broad.mit.edu 37 13 73350130 73350130 + Missense_Mutation SNP C C G TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr13:73350130C>G ENST00000377767.4 - 5 855 c.755G>C c.(754-756)aGa>aCa p.R252T DIS3_ENST00000545453.1_Missense_Mutation_p.R90T|DIS3_ENST00000377780.4_Missense_Mutation_p.R222T NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 252 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) CCTGCTAGCTCTAAATGTTCC 0.328000 Multiple Myeloma(4;0.011) 31 34 0 0 0.000409698 0 0 CPNE3 8895 broad.mit.edu 37 8 87563304 87563304 + Silent SNP C C T rs137984538 by1000genomes TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr8:87563304C>T ENST00000521271.1 + 13 1206 c.1044C>T c.(1042-1044)ggC>ggT p.G348G CPNE3_ENST00000198765.4_Silent_p.G348G NM_003909.3 NP_003900.1 O75131 CPNE3_HUMAN copine III 348 VWFA. lipid metabolic process|vesicle-mediated transport cytosol calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 23 TTGGTTTTGGCGCTCAGATAC 0.363000 7 30 0 0 8.12818e-05 0 0 OR2A5 393046 broad.mit.edu 37 7 143747506 143747506 + Missense_Mutation SNP T T A TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr7:143747506T>A ENST00000408906.2 + 1 46 c.12T>A c.(10-12)aaT>aaA p.N4K NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) TGACAAAAAATCAGACATGGG 0.478000 17 65 0 0 0.000132079 0 0 FOLH1 2346 broad.mit.edu 37 11 49168493 49168493 + Missense_Mutation SNP C C T TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:49168493C>T ENST00000340334.7 - 20 2391 c.2023G>A c.(2023-2025)Gtc>Atc p.V675I FOLH1_ENST00000533034.1_Missense_Mutation_p.V644I|FOLH1_ENST00000256999.2_Missense_Mutation_p.V690I|FOLH1_ENST00000343844.4_Missense_Mutation_p.V382I|FOLH1_ENST00000356696.3_Missense_Mutation_p.V659I NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 690 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) GCATAGATGACATGCCTGTTG 0.408000 15 75 0 0 0.000117367 0 0 AGO2 27161 broad.mit.edu 37 8 141557663 141557663 + Missense_Mutation SNP T T C TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr8:141557663T>C ENST00000220592.5 - 13 1764 c.1652A>G c.(1651-1653)aAc>aGc p.N551S AGO2_ENST00000519980.1_Missense_Mutation_p.N551S NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 CCTCTGCACGTTCTTCATCTG 0.622000 18 68 0 0 7.07596e-05 0 0 TXLNB 167838 broad.mit.edu 37 6 139591648 139591648 + Missense_Mutation SNP C C T TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr6:139591648C>T ENST00000358430.3 - 4 864 c.632G>A c.(631-633)cGa>cAa p.R211Q NM_153235.3 NP_694967.3 Q8N3L3 TXLNB_HUMAN taxilin beta 211 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) CAATTTGCTTCGAGCGAGGAT 0.443000 23 36 0 0 0.000586117 0 0 CTDSPL2 51496 broad.mit.edu 37 15 44751268 44751268 + Missense_Mutation SNP G G A TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr15:44751268G>A ENST00000260327.4 + 2 619 c.56G>A c.(55-57)cGc>cAc p.R19H CTDSPL2_ENST00000558373.1_Missense_Mutation_p.R19H|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.R19H|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.R19H NM_016396.2 NP_057480.2 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 19 phosphoprotein phosphatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 13 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) CAAACACAACGCACTGCCAGA 0.403000 31 42 0 0 0.000339439 0 0 AP2M1 1173 broad.mit.edu 37 3 183898715 183898715 + Missense_Mutation SNP C C T TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr3:183898715C>T ENST00000382456.3 + 5 816 c.502C>T c.(502-504)Cgg>Tgg p.R168W AP2M1_ENST00000411763.2_Missense_Mutation_p.R195W|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Missense_Mutation_p.R168W|AP2M1_ENST00000292807.5_Missense_Mutation_p.R170W|AP2M1_ENST00000461733.1_3'UTR NM_001025205.1 NP_001020376.1 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 170 MHD. axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 18 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CAAGTATCGTCGGAATGAGCT 0.552000 34 70 0 0 0.000159656 0 0 FRG1B 284802 broad.mit.edu 37 20 29632633 29632633 + Missense_Mutation SNP G G C TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr20:29632633G>C ENST00000278882.3 + 8 828 c.448G>C c.(448-450)Gac>Cac p.D150H FRG1B_ENST00000358464.4_Missense_Mutation_p.D150H endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAGCTTCCAAGACCACAAACT 0.299000 9 767 0 0 0.000151284 0 0 NLRP3 114548 broad.mit.edu 37 1 247593035 247593035 + Missense_Mutation SNP G G A TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr1:247593035G>A ENST00000366497.2 + 5 3085 c.2305G>A c.(2305-2307)Ggc>Agc p.G769S NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391828.3_Missense_Mutation_p.G769S|NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000336119.3_Missense_Mutation_p.G769S|NLRP3_ENST00000366496.2_Missense_Mutation_p.G769S NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 826 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CCAGCATCCTGGCTGTAACAT 0.498000 12 40 0 0 0.000219431 0 0 LPA 4018 broad.mit.edu 37 6 160969513 160969513 + Nonsense_Mutation SNP G G A TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr6:160969513G>A ENST00000447678.1 - 32 5272 c.5152C>T c.(5152-5154)Caa>Taa p.Q1718* LPA_ENST00000316300.5_Nonsense_Mutation_p.Q1718* NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4226 Kringle 15. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TTCTTACCTTGTTCAGAAGGA 0.512000 11 26 0 0 0.00010058 0 0 PPAP2C 8612 broad.mit.edu 37 19 287703 287703 + Missense_Mutation SNP G G A rs61745392 byFrequency TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr19:287703G>A ENST00000269812.3 - 3 302 c.253C>T c.(253-255)Cgc>Tgc p.R85C PPAP2C_ENST00000434325.2_Missense_Mutation_p.R29C|PPAP2C_ENST00000327790.3_Missense_Mutation_p.R106C NM_003712.2|NM_177526.1 NP_003703.1|NP_803545.1 O43688 LPP2_HUMAN phosphatidic acid phosphatase type 2C 85 sphingolipid metabolic process integral to membrane|plasma membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1) 5 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AAGTCCGAGCGAGAATAGAGC 0.622000 88 137 0 0 0.000147903 0 0 PITPNM1 9600 broad.mit.edu 37 11 67266200 67266200 + Missense_Mutation SNP C C G TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:67266200C>G ENST00000356404.3 - 10 1576 c.1351G>C c.(1351-1353)Gcg>Ccg p.A451P PITPNM1_ENST00000534749.1_Missense_Mutation_p.A451P|PITPNM1_ENST00000436757.2_Missense_Mutation_p.A451P NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 451 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 TGCACATCCGCCTGCTTGGAG 0.667000 29 363 0 0 0.000339439 0 0 ODF3 113746 broad.mit.edu 37 11 197726 197726 + Missense_Mutation SNP G G A TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:197726G>A ENST00000325113.4 + 3 592 c.275G>A c.(274-276)cGc>cAc p.R92H BET1L_ENST00000410108.1_Intron|ODF3_ENST00000342593.5_Missense_Mutation_p.R92H|ODF3_ENST00000525282.1_Missense_Mutation_p.R92H NM_053280.3 NP_444510.2 Q96PU9 ODF3A_HUMAN outer dense fiber of sperm tails 3 92 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1) 9 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) ATCCTGGGGCGCTACCAAACC 0.622000 16 24 0 0 0.000175454 0 0 DOCK7 85440 broad.mit.edu 37 1 62958387 62958387 + Silent SNP A A T TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr1:62958387A>T ENST00000251157.5 - 41 5355 c.5322T>A c.(5320-5322)gcT>gcA p.A1774A DOCK7_ENST00000340370.5_Silent_p.A1752A NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1783 DHR-2. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 TAGAGAAGGAAGCAGCTGCTT 0.408000 38 77 0 0 0.000374591 0 0 ANK3 288 broad.mit.edu 37 10 62023637 62023637 + Missense_Mutation SNP C C T TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr10:62023637C>T ENST00000280772.1 - 6 846 c.655G>A c.(655-657)Gcc>Acc p.A219T ANK3_ENST00000503366.1_Missense_Mutation_p.A202T|ANK3_ENST00000373827.2_Missense_Mutation_p.A213T NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 219 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AGCAGCAGGGCGGCGGCTTTC 0.547000 13 27 0 0 0.000566183 0 0 MARCKSL1 65108 broad.mit.edu 37 1 32800473 32800473 + Missense_Mutation SNP A A G TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr1:32800473A>G ENST00000329421.7 - 2 658 c.313T>C c.(313-315)Ttc>Ctc p.F105L NM_023009.6 NP_075385.1 P49006 MRP_HUMAN MARCKS-like 1 105 plasma membrane calmodulin binding breast(1)|large_intestine(3)|lung(1)|ovary(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TTTCTCTTGAAGGACAGGCCG 0.582000 15 80 0 0 0.000308642 0 0 CCDC81 60494 broad.mit.edu 37 11 86131054 86131054 + Silent SNP G G A TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:86131054G>A ENST00000278487.3 + 13 2060 c.981G>A c.(979-981)gcG>gcA p.A327A CCDC81_ENST00000354755.1_Silent_p.A502A|CCDC81_ENST00000445632.2_Silent_p.A592A|CCDC81_ENST00000528728.1_Silent_p.A327A Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 592 kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) GGAGTGCTGCGATGAAGAAGC 0.512000 89 1647 0 0 0.000589545 0 0 JOSD2 126119 broad.mit.edu 37 19 51013582 51013582 + Missense_Mutation SNP T T G TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr19:51013582T>G ENST00000598418.1 - 2 360 c.107A>C c.(106-108)cAg>cCg p.Q36P JOSD2_ENST00000595669.1_Missense_Mutation_p.Q36P|JOSD2_ENST00000391815.3_Missense_Mutation_p.Q36P|JOSD2_ENST00000601423.1_Missense_Mutation_p.Q36P NM_001270639.1|NM_001270640.1 NP_001257568.1|NP_001257569.1 Q8TAC2 JOS2_HUMAN Josephin domain containing 2 36 Josephin. protein deubiquitination ubiquitin-specific protease activity kidney(1)|lung(3)|prostate(1) 5 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364) GCTAAAGAGCTGCTGCTGCAG 0.662000 16 62 0 0 0.000566183 0 0 ZNF423 23090 broad.mit.edu 37 16 49672281 49672281 + Missense_Mutation SNP T T C TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr16:49672281T>C ENST00000561648.1 - 4 835 c.782A>G c.(781-783)gAc>gGc p.D261G ZNF423_ENST00000535559.1_Missense_Mutation_p.D144G|ZNF423_ENST00000262383.2_Missense_Mutation_p.D261G|ZNF423_ENST00000563137.2_Missense_Mutation_p.D201G|ZNF423_ENST00000562520.1_Missense_Mutation_p.D201G|ZNF423_ENST00000562871.1_Missense_Mutation_p.D201G|ZNF423_ENST00000567169.1_Missense_Mutation_p.D144G NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 261 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) CATGAAGTCGTCCTTCTTGGC 0.607000 9 19 0 0 0.000274275 0 0 CDHR2 54825 broad.mit.edu 37 5 176005428 176005428 + Missense_Mutation SNP T T C TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr5:176005428T>C ENST00000510636.1 + 16 1911 c.1637T>C c.(1636-1638)cTg>cCg p.L546P CDHR2_ENST00000261944.5_Missense_Mutation_p.L546P|CDHR2_ENST00000506348.1_Missense_Mutation_p.L546P NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 546 Cadherin 5. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 GGTGAGCTGCTGGACCGGGAG 0.622000 4 24 0 0 1.23904e-05 0 0 MYH14 79784 broad.mit.edu 37 19 50735328 50735328 + Splice_Site SNP G G C TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr19:50735328G>C ENST00000440075.2 + 10 1161 c.e10+1 MYH14_ENST00000376970.2_Splice_Site|MYH14_ENST00000598205.1_Splice_Site|MYH14_ENST00000596571.1_Splice_Site|MYH14_ENST00000262269.8_Splice_Site|MYH14_ENST00000425460.1_Splice_Site|MYH14_ENST00000601313.1_Splice_Site Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GAAATCATCTGTGAGTGAGCC 0.622000 9 26 0 0 3.86212e-05 0 0 LCN15 389812 broad.mit.edu 37 9 139658430 139658430 + Missense_Mutation SNP G G T TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr9:139658430G>T ENST00000316144.5 - 2 152 c.128C>A c.(127-129)gCa>gAa p.A43E LCN15_ENST00000482511.1_5'UTR NM_203347.1 NP_976222.1 Q6UWW0 LCN15_HUMAN lipocalin 15 43 lipid metabolic process extracellular region binding|transporter activity endometrium(1)|lung(1) 2 GCAGTCAGATGCCATGGAGAC 0.657000 13 59 0.00010058 0.00468116 0.00010058 1 0 EVPL 2125 broad.mit.edu 37 17 74005670 74005670 + Missense_Mutation SNP T T C TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr17:74005670T>C ENST00000301607.3 - 22 3869 c.3616A>G c.(3616-3618)Aca>Gca p.T1206A EVPL_ENST00000586740.1_Missense_Mutation_p.T1228A NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1206 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TCCTGCTCTGTCTCCGGATCC 0.622000 11 122 0 0 3.86212e-05 0 0 OVCH2 341277 broad.mit.edu 37 11 7721843 7721843 + RNA SNP C C G TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:7721843C>G ENST00000454689.1 - 0 900 OVCH2_ENST00000534193.1_RNA NM_198185.3 NP_937828.3 ovochymase 2 (gene/pseudogene) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) GCTTAGTTACCAGTTTGGATG 0.488000 13 18 0 0 7.07596e-05 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554431 140554431 + Missense_Mutation SNP G G A TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr5:140554431G>A ENST00000231137.3 + 1 2189 c.2015G>A c.(2014-2016)cGg>cAg p.R672Q NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 672 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTACCTGCGGCTCCCGGAG 0.692000 8 55 0 0 0.000274275 0 0 PLSCR4 57088 broad.mit.edu 37 3 145917809 145917809 + Missense_Mutation SNP T T C TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr3:145917809T>C ENST00000354952.2 - 6 655 c.415A>G c.(415-417)Act>Gct p.T139A PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000493382.1_Missense_Mutation_p.T139A|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000446574.2_Missense_Mutation_p.T139A NM_020353.2 NP_065086.2 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 139 blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1) 17 CTATTATTAGTTTCAAAACAT 0.323000 11 8 0 0 6.40141e-05 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C rs139671425 by1000genomes TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr17:39240627T>C ENST00000391417.4 + 1 169 c.169T>C c.(169-171)Tct>Cct p.S57P NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.S57P(4) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 GTGCTGCCAGTCTGTGTGCTG 0.667000 5 31 0 0 8.12818e-05 0 0 LARP6 55323 broad.mit.edu 37 15 71124798 71124798 + Missense_Mutation SNP C C T TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr15:71124798C>T ENST00000299213.8 - 3 1139 c.1069G>A c.(1069-1071)Gcc>Acc p.A357T NM_018357.2 NP_060827.2 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 357 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 19 TTGTTGGTGGCCGCGTGCCGT 0.607000 6 66 0 0 8.12818e-05 0 0 SLC17A4 10050 broad.mit.edu 37 6 25770658 25770658 + Missense_Mutation SNP C C A TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr6:25770658C>A ENST00000377905.4 + 5 697 c.578C>A c.(577-579)cCc>cAc p.P193H SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron NM_005495.2 NP_005486.1 Q9Y2C5 S17A4_HUMAN solute carrier family 17, member 4 193 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 AAATGGGCTCCCCCACTGGAA 0.458000 21 132 7.41877e-09 3.65593e-07 0.000229342 1 0 ZNF512 84450 broad.mit.edu 37 2 27826170 27826170 + Missense_Mutation SNP G G A TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr2:27826170G>A ENST00000355467.4 + 9 1015 c.932G>A c.(931-933)gGg>gAg p.G311E RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Missense_Mutation_p.G180E|ZNF512_ENST00000416005.2_Missense_Mutation_p.G282E|ZNF512_ENST00000413371.2_Missense_Mutation_p.G234E|ZNF512_ENST00000379717.1_Missense_Mutation_p.G310E Q96ME7 ZN512_HUMAN zinc finger protein 512 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) TCAGAGCATGGGCCTGTGAGT 0.493000 21 82 0 0 0.000147802 0 0 TECTA 7007 broad.mit.edu 37 11 120996244 120996244 + Silent SNP G G A rs140634094 TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:120996244G>A ENST00000392793.1 + 8 1708 c.1437G>A c.(1435-1437)ccG>ccA p.P479P TECTA_ENST00000264037.2_Silent_p.P479P O75443 TECTA_HUMAN tectorin alpha 479 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix p.P479P(1) TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ATGGCAGGCCGGCCATGTCTG 0.577000 31 44 0 0 0.000279167 0 0 RELN 5649 broad.mit.edu 37 7 103290823 103290823 + Nonsense_Mutation SNP G G A TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr7:103290823G>A ENST00000428762.1 - 16 2059 c.1900C>T c.(1900-1902)Cga>Tga p.R634* RELN_ENST00000424685.2_Nonsense_Mutation_p.R634*|RELN_ENST00000343529.5_Nonsense_Mutation_p.R634* NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 634 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATTGTTATTCGGTTCCACCTG 0.413000 7 77 0 0 8.12818e-05 0 0 TUBB6 84617 broad.mit.edu 37 18 12308734 12308734 + Missense_Mutation SNP T T C TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr18:12308734T>C ENST00000317702.5 + 2 340 c.106T>C c.(106-108)Tac>Cac p.Y36H TUBB6_ENST00000586653.1_Missense_Mutation_p.Y36H|TUBB6_ENST00000590967.1_Missense_Mutation_p.Y36H|TUBB6_ENST00000591909.1_Missense_Mutation_p.Y36H|TUBB6_ENST00000592683.1_Missense_Mutation_p.Y36H|TUBB6_ENST00000591208.1_Missense_Mutation_p.Y36H Q9BUF5 TBB6_HUMAN tubulin, beta 6 class V 36 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1) 14 READ - Rectum adenocarcinoma(1;0.0649) GGCCGGAGGCTACGTGGGAGA 0.652000 15 73 0 0 9.7654e-05 0 0 EEFSEC 60678 broad.mit.edu 37 3 127965854 127965854 + Silent SNP C C A TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr3:127965854C>A ENST00000254730.6 + 2 546 c.492C>A c.(490-492)acC>acA p.T164T EEFSEC_ENST00000483457.1_Silent_p.T164T NM_021937.3 NP_068756.2 P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific 164 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 ATAAAATGACCAAGAAAATGC 0.463000 7 136 0.000157383 0.00722454 0.000157383 1 0 PLCH1 23007 broad.mit.edu 37 3 155199621 155199621 + Silent SNP G G A TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr3:155199621G>A ENST00000460012.1 - 23 4461 c.4104C>T c.(4102-4104)aaC>aaT p.N1368N PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.N1368N|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Silent_p.N1368N|PLCH1_ENST00000340059.7_Silent_p.N1406N Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1406 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TACAGTAGCCGTTTCTCAAAC 0.413000 39 18 0 0 0.000589545 0 0 DDX10 1662 broad.mit.edu 37 11 108712205 108712205 + Splice_Site SNP T T C TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:108712205T>C ENST00000526794.1 + 15 2279 c.e15+2 DDX10_ENST00000322536.3_Splice_Site Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) AAGCATCGGGTAAGCTTTCCA 0.308000 T NUP98 AML* 13 15 0 0 0.000308642 0 0 NLRP2 55655 broad.mit.edu 37 19 55495050 55495050 + Missense_Mutation SNP C C A TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr19:55495050C>A ENST00000543010.1 + 6 2127 c.1984C>A c.(1984-1986)Ctc>Atc p.L662I NLRP2_ENST00000448584.2_Missense_Mutation_p.L662I|NLRP2_ENST00000538819.1_Missense_Mutation_p.L638I|NLRP2_ENST00000339757.7_Missense_Mutation_p.L640I|NLRP2_ENST00000537859.1_Missense_Mutation_p.L640I|NLRP2_ENST00000263437.6_Missense_Mutation_p.L659I|NLRP2_ENST00000391721.4_Missense_Mutation_p.L638I|NLRP2_ENST00000427260.2_Missense_Mutation_p.L639I NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 662 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AAAGGAGAATCTCCCGGAGAA 0.493000 8 22 1.06961e-07 5.1946e-06 0.000157383 1 0 MYO5A 4644 broad.mit.edu 37 15 52697566 52697566 + Missense_Mutation SNP C C G TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr15:52697566C>G ENST00000399231.3 - 9 1214 c.971G>C c.(970-972)gGa>gCa p.G324A MYO5A_ENST00000399233.2_Missense_Mutation_p.G324A|MYO5A_ENST00000358212.6_Missense_Mutation_p.G324A|MYO5A_ENST00000553916.1_Missense_Mutation_p.G324A|MYO5A_ENST00000356338.6_Missense_Mutation_p.G324A NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 324 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TCGGAAAATTCCCATTTGATG 0.368000 51 297 0 0 0.000147903 0 0 BRIP1 83990 broad.mit.edu 37 17 59871040 59871040 + Missense_Mutation SNP G G C TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr17:59871040G>C ENST00000259008.2 - 10 1658 c.1391C>G c.(1390-1392)gCt>gGt p.A464G BRIP1_ENST00000577598.1_Missense_Mutation_p.A464G NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 464 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 TATTTTACAAGCTGATTCATA 0.333000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 8 18 0 0 0.000157383 0 0 DPPA2 151871 broad.mit.edu 37 3 109033385 109033385 + Nonsense_Mutation SNP G G C TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr3:109033385G>C ENST00000478945.1 - 2 251 c.5C>G c.(4-6)tCa>tGa p.S2* NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 2 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ATTTGCATCTGACATTTTCAG 0.378000 16 14 0 0 0.000132079 0 0 MLLT4 4301 broad.mit.edu 37 6 168281157 168281157 + Missense_Mutation SNP G G T TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr6:168281157G>T ENST00000366806.2 + 6 999 c.857G>T c.(856-858)gGt>gTt p.G286V MLLT4_ENST00000392108.3_Missense_Mutation_p.G286V|MLLT4_ENST00000351017.4_Missense_Mutation_p.G286V|MLLT4_ENST00000400822.3_Missense_Mutation_p.G285V|MLLT4_ENST00000392112.1_Missense_Mutation_p.G285V|MLLT4_ENST00000344191.4_Missense_Mutation_p.G286V|MLLT4_ENST00000447894.2_Missense_Mutation_p.G286V P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 286 Ras-associating 2. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) GAGAAGTATGGTCTGGAAAAA 0.383000 T MLL AL 45 108 5.73435e-26 2.86803e-24 0.000147903 1 0 TMPRSS3 64699 broad.mit.edu 37 21 43802280 43802280 + Silent SNP G G T TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr21:43802280G>T ENST00000291532.3 - 9 1801 c.846C>A c.(844-846)gcC>gcA p.A282A TMPRSS3_ENST00000398397.3_Silent_p.A282A|TMPRSS3_ENST00000398405.1_Silent_p.A280A|TMPRSS3_ENST00000433957.2_Silent_p.A282A|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Silent_p.A366A NM_032404.2 NP_115780.1 P57727 TMPS3_HUMAN transmembrane protease, serine 3 282 Peptidase S1. cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 AGTGGGATGGGGCTGGATTGT 0.527000 18 57 5.35267e-07 2.5624e-05 9.7654e-05 1 0 CXorf67 340602 broad.mit.edu 37 X 51151051 51151051 + Missense_Mutation SNP C C G TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chrX:51151051C>G ENST00000342995.2 + 1 1285 c.1183C>G c.(1183-1185)Cgt>Ggt p.R395G chromosome X open reading frame 67 breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1) 21 GGTCCCAAGCCGTGCTTCCCC 0.587000 5 18 0 0 1.23904e-05 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47592647 47592647 + Silent SNP C C T TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr20:47592647C>T ENST00000371917.4 + 14 1869 c.1869C>T c.(1867-1869)tcC>tcT p.S623S NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 623 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CCACAGTGTCCTCGGGGACCC 0.537000 8 36 0 0 0.000274275 0 0 ACOXL 55289 broad.mit.edu 37 2 111789223 111789224 + Frame_Shift_Ins INS - - T TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr2:111789223_111789224insT ENST00000389811.4 + 16 1615_1616 c.1391_1392insT c.(1390-1392)gttfs p.V464fs ACOXL_ENST00000439055.1_Frame_Shift_Ins_p.V434fs Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 464 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 AAGAAGGAGGATTTTTTCCATG 0.450 16 76 --- --- --- --- MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC rs35336557 TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr5:112824048_112824049insGCC ENST00000408903.3 - 1 478_479 c.63_64insGGC c.(61-66)gggcgg>ggGGCgcgg p.21_22GR>GAR NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 549 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgctgccgctgccgccgccgc 0.738 6 7 --- --- --- --- PPFIBP2 8495 broad.mit.edu 37 11 7672899 7672899 + Frame_Shift_Del DEL C C - TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:7672899delC ENST00000299492.4 + 23 2648 c.2260delC c.(2260-2262)gcfs p.R754fs PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Frame_Shift_Del_p.R611fs|PPFIBP2_ENST00000528883.1_Frame_Shift_Del_p.R642fs|PPFIBP2_ENST00000533792.1_Frame_Shift_Del_p.R596fs NM_003621.3 NP_003612.2 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 754 SAM 3. R -> L (in Ref. 4; AAC26104). cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding p.R754C(1) breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) CCTGGAGCCACGCTTCACTGG 0.572 26 41 --- --- --- --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:76506673_76506675delCTG ENST00000527881.1 + 2 1039_1041 c.13_15delCTG c.(13-15)del p.L9del TSKU_ENST00000333090.4_In_Frame_Del_p.L9del Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 9 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 10 204 --- --- --- --- HERC1 8925 broad.mit.edu 37 15 63970383 63970384 + Frame_Shift_Ins INS - - T TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr15:63970383_63970384insT ENST00000443617.2 - 37 6817_6818 c.6730_6731insA c.(6730-6732)taafs p.*2244fs RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 2244 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 ACATATCTTAATTTTGTGAAGC 0.436 8 78 --- --- --- --- PLIN1 5346 broad.mit.edu 37 15 90209096 90209097 + In_Frame_Ins INS - - CGG TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr15:90209096_90209097insCGG ENST00000300055.5 - 9 1451_1452 c.1286_1287insCCG c.(1285-1287)cga>cCCGga p.429_429R>PG PLIN1_ENST00000430628.2_In_Frame_Ins_p.429_429R>PG NM_002666.4 NP_002657.3 O60240 PLIN1_HUMAN perilipin 1 429 triglyceride catabolic process lipid particle lipid binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2) 13 GCTCCGCCTCCCGGCGCTCGAC 0.762 6 8 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-ER-A19T-06A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f98d326-5676-4257-9af8-0a5f5d3c2527 e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 3 4 --- --- --- ---