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 HGFAC 3083 broad.mit.edu 37 4 3445789 3445789 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr4:3445789G>A ENST00000382774.3 + 5 614 c.499G>A c.(499-501)Ggc>Agc p.G167S HGFAC_ENST00000511533.1_Missense_Mutation_p.G167S NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 167 EGF-like 1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CTGTGCCTCCGGCCCCTGCCT 0.662000 9 59 0 0 0.058154 0 0 HERC1 8925 broad.mit.edu 37 15 63942010 63942010 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr15:63942010C>T ENST00000443617.2 - 54 10748 c.10661G>A c.(10660-10662)cGg>cAg p.R3554Q NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 3554 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 TCCATCCATCCGTCCCACCAA 0.512000 7 23 0 0 0.029380 0 0 TENM2 57451 broad.mit.edu 37 5 167689098 167689098 + Silent SNP C C G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr5:167689098C>G ENST00000519204.1 + 28 7363 c.7245C>G c.(7243-7245)gcC>gcG p.A2415A TENM2_ENST00000545108.1_Silent_p.A2535A|TENM2_ENST00000518659.1_Silent_p.A2536A|TENM2_ENST00000403607.2_Silent_p.A2360A|TENM2_ENST00000520394.1_Silent_p.A2297A teneurin transmembrane protein 2 ATAACCAGGCCTTCATGGCTC 0.507000 6 42 0 0 0.021553 0 0 TMEM37 140738 broad.mit.edu 37 2 120194495 120194495 + Missense_Mutation SNP C C T rs141678483 TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr2:120194495C>T ENST00000306406.4 + 2 87 c.52C>T c.(52-54)Cgc>Tgc p.R18C TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Missense_Mutation_p.R30C NM_183240.2 NP_899063.2 Q8WXS4 CCGL_HUMAN transmembrane protein 37 18 integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 AAGGCAGCCCCGCCGGTCCTT 0.612000 12 73 0 0 0.093190 0 0 DAPK1 1612 broad.mit.edu 37 9 90321943 90321943 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:90321943G>A ENST00000469640.2 + 27 4407 c.4032G>A c.(4030-4032)ccG>ccA p.P1344P DAPK1_ENST00000472284.1_Silent_p.P1319P|DAPK1_ENST00000358077.5_Silent_p.P1319P|DAPK1_ENST00000408954.3_Silent_p.P1319P|DAPK1_ENST00000491893.1_Silent_p.P1253P P53355 DAPK1_HUMAN death-associated protein kinase 1 1319 Death. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 TGCTGGACCCGCCCGACCCCC 0.602000 Chronic Lymphocytic Leukemia, Familial Clustering of 9 106 0 0 0.047766 0 0 NID1 4811 broad.mit.edu 37 1 236175241 236175241 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr1:236175241C>T ENST00000264187.6 - 12 2589 c.2507G>A c.(2506-2508)gGc>gAc p.G836D NID1_ENST00000366595.3_Intron NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 836 EGF-like 5; calcium-binding (Potential). cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GCAACGGAAGCCGTCTCCCTG 0.577000 8 89 0 0 0.047766 0 0 CACNA1A 773 broad.mit.edu 37 19 13414687 13414687 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr19:13414687G>A ENST00000360228.5 - 16 1997 c.1998C>T c.(1996-1998)ggC>ggT p.G666G CACNA1A_ENST00000573710.2_Silent_p.G667G NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 667 T -> M (in FHM1 and EA2; dbSNP:rs121908212). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TCCAGTCTTCGCCCGTCAGGA 0.592000 18 159 0 0 0.038395 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 64 0 0 0.014758 0 0 COL1A2 1278 broad.mit.edu 37 7 94051241 94051241 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr7:94051241C>T ENST00000297268.6 + 39 2851 c.2380C>T c.(2380-2382)Cgg>Tgg p.R794W NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 794 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGCTGCTGGACGGACTGGTCC 0.458000 HNSCC(75;0.22) 6 57 0 0 0.029380 0 0 XPO7 23039 broad.mit.edu 37 8 21843104 21843104 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr8:21843104G>A ENST00000434536.1 + 13 1608 c.1506G>A c.(1504-1506)ctG>ctA p.L502L XPO7_ENST00000252512.9_Silent_p.L493L|XPO7_ENST00000433566.4_Silent_p.L494L Q9UIA9 XPO7_HUMAN exportin 7 493 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) CAGGAAGGCTGACATGGCTGG 0.498000 40 139 0 0 0.104719 0 0 IGFBPL1 347252 broad.mit.edu 37 9 38414183 38414183 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:38414183G>A ENST00000377694.1 - 2 500 c.478C>T c.(478-480)Cct>Tct p.P160S NM_001007563.1 NP_001007564.1 Q8WX77 IBPL1_HUMAN insulin-like growth factor binding protein-like 1 160 Ig-like C2-type. regulation of cell growth extracellular region insulin-like growth factor binding endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 4 GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116) CTTCGGGGAGGAACGACGACC 0.592000 6 83 0 0 0.021553 0 0 PLIN3 10226 broad.mit.edu 37 19 4847853 4847853 + Silent SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr19:4847853C>T ENST00000221957.4 - 6 860 c.684G>A c.(682-684)caG>caA p.Q228Q PLIN3_ENST00000585479.1_Silent_p.Q228Q|PLIN3_ENST00000592528.1_Silent_p.Q216Q NM_001164189.1|NM_001164194.1|NM_005817.4 NP_001157661.1|NP_001157666.1|NP_005808.3 O60664 PLIN3_HUMAN perilipin 3 228 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 9 Galsulfase(DB01279)|Idursulfase(DB01271) CCTGCCGCTGCTGCTGCACGG 0.617000 3 23 0 0 0.021553 0 0 AGAP1 116987 broad.mit.edu 37 2 237032621 237032621 + Missense_Mutation SNP G G A rs150891900 TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr2:237032621G>A ENST00000409538.1 + 17 3561 c.3065G>A c.(3064-3066)cGg>cAg p.R1022Q AGAP1_ENST00000428334.2_Missense_Mutation_p.R649Q|AGAP1_ENST00000304032.7_Missense_Mutation_p.R810Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.R757Q Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 810 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GCCTACGCCCGGCAGGCCTCC 0.637000 6 71 0 0 0.021553 0 0 FNBP1 23048 broad.mit.edu 37 9 132740854 132740854 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:132740854C>T ENST00000420781.1 - 4 453 c.235G>A c.(235-237)Gaa>Aaa p.E79K FNBP1_ENST00000355681.3_Missense_Mutation_p.E79K|FNBP1_ENST00000446176.2_Missense_Mutation_p.E79K Q96RU3 FNBP1_HUMAN formin binding protein 1 79 Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding p.E79K(1) Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) TCATTCATTTCGTTCAGGTTG 0.433000 T MLL AML 7 50 0 0 0.038147 0 0 PRMT7 54496 broad.mit.edu 37 16 68382250 68382250 + Missense_Mutation SNP C C G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr16:68382250C>G ENST00000339507.5 + 14 2159 c.1329C>G c.(1327-1329)ttC>ttG p.F443L PRMT7_ENST00000441236.1_Missense_Mutation_p.F393L|PRMT7_ENST00000348497.4_Intron|PRMT7_ENST00000449359.3_Missense_Mutation_p.F393L Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 443 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) CTAAGATCTTCAAGGCTAACC 0.373000 8 84 0 0 0.058154 0 0 EMC1 23065 broad.mit.edu 37 1 19577911 19577911 + Silent SNP A A G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr1:19577911A>G ENST00000477853.1 - 1 135 c.93T>C c.(91-93)gaT>gaC p.D31D EMC1_ENST00000356068.2_Silent_p.D31D|EMC1_ENST00000375199.3_Silent_p.D31D|EMC1_ENST00000375208.3_Silent_p.D31D NM_001271428.1|NM_015047.1 NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 GTACGCACCAATCAAACTTGC 0.537000 9 48 0 0 0.058154 0 0 ATCAY 85300 broad.mit.edu 37 19 3920766 3920766 + Missense_Mutation SNP C C G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr19:3920766C>G ENST00000450849.2 + 12 1543 c.1076C>G c.(1075-1077)tCt>tGt p.S359C ATCAY_ENST00000600960.1_Missense_Mutation_p.S359C|ATCAY_ENST00000398448.3_Missense_Mutation_p.S365C|ATCAY_ENST00000301260.6_Missense_Mutation_p.S359C NM_033064.4 NP_149053.1 Q86WG3 ATCAY_HUMAN ataxia, cerebellar, Cayman type 359 transport protein binding breast(1)|endometrium(2)|kidney(2)|lung(2) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) CTCCACAGGTCTGCTCTGGTC 0.418000 4 34 0 0 0.014758 0 0 RHBDL1 9028 broad.mit.edu 37 16 727019 727019 + Missense_Mutation SNP C C A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr16:727019C>A ENST00000219551.2 + 3 697 c.670C>A c.(670-672)Cag>Aag p.Q224K RHBDL1_ENST00000352681.3_Missense_Mutation_p.Q159K O75783 RHBL1_HUMAN rhomboid, veinlet-like 1 (Drosophila) 224 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|lung(4)|urinary_tract(3) 9 Hepatocellular(780;0.0218) GTGGGTGCTGCAGACCTACCA 0.637000 8 62 0.00307968 0.00318497 0.038147 1 0 TRAPPC9 83696 broad.mit.edu 37 8 140744267 140744267 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr8:140744267G>A ENST00000389328.4 - 22 3542 c.3528C>T c.(3526-3528)caC>caT p.H1176H TRAPPC9_ENST00000522504.1_5'UTR|TRAPPC9_ENST00000438773.2_Silent_p.H1078H|TRAPPC9_ENST00000389327.3_Silent_p.H1069H NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 1078 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 AGACGGTGTCGTGCAGGTCGT 0.657000 5 11 0 0 0.021553 0 0 UBR5 51366 broad.mit.edu 37 8 103305835 103305835 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr8:103305835G>A ENST00000520539.1 - 34 5193 c.4587C>T c.(4585-4587)agC>agT p.S1529S UBR5_ENST00000521922.1_Silent_p.S1523S|UBR5_ENST00000519528.1_5'UTR|UBR5_ENST00000220959.4_Silent_p.S1529S NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1529 Poly-Ser. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CAATTTACCTGCTAGACTGAT 0.433000 11 99 0 0 0.119110 0 0 OR6M1 390261 broad.mit.edu 37 11 123676267 123676267 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr11:123676267G>A ENST00000309154.2 - 1 828 c.791C>T c.(790-792)tCa>tTa p.S264L NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) ATAATCCAGTGAGGAGTTCTG 0.488000 8 66 0 0 0.047766 0 0 DOCK2 1794 broad.mit.edu 37 5 169477279 169477279 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr5:169477279G>A ENST00000256935.8 + 41 4171 c.4091G>A c.(4090-4092)cGc>cAc p.R1364H DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R856H|DOCK2_ENST00000540750.1_Missense_Mutation_p.R425H NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1364 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCATCTACCGCGGGAAGGAA 0.502000 19 175 0 0 0.049695 0 0 PKP4 8502 broad.mit.edu 37 2 159535144 159535144 + Missense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr2:159535144G>C ENST00000389757.3 + 20 3304 c.3179G>C c.(3178-3180)aGa>aCa p.R1060T AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.R1103T NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 1103 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 TCACCAGCAAGAGAACAAAAT 0.383000 HNSCC(62;0.18) 18 71 0 0 0.049695 0 0 PRB3 5544 broad.mit.edu 37 12 11420826 11420826 + RNA SNP C C A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr12:11420826C>A ENST00000381842.3 - 0 394 PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) GTCCTTCTGGCTTTCCCGGAC 0.632000 18 195 5.77227e-19 6.40775e-19 0.134883 1 0 TMOD1 7111 broad.mit.edu 37 9 100331211 100331211 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:100331211G>A ENST00000395211.2 + 8 898 c.762G>A c.(760-762)ttG>ttA p.L254L TMOD1_ENST00000259365.3_Silent_p.L254L|TMOD1_ENST00000375175.1_Silent_p.L127L NM_001166116.1 NP_001159588.1 P28289 TMOD1_HUMAN tropomodulin 1 254 muscle filament sliding cytosol actin binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1) 11 Acute lymphoblastic leukemia(62;0.154) STAD - Stomach adenocarcinoma(157;0.105) ACAAGGTGTTGAAGACACTGA 0.507000 13 107 0 0 0.119110 0 0 EPPK1 83481 broad.mit.edu 37 8 144940690 144940690 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr8:144940690G>A ENST00000525985.1 - 2 6803 c.6732C>T c.(6730-6732)agC>agT p.S2244S P58107 EPIPL_HUMAN epiplakin 1 2244 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCTGGTAGATGCTCATCTTCT 0.711000 7 102 0 0 0.047766 0 0 PUS7L 83448 broad.mit.edu 37 12 44148576 44148576 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr12:44148576G>A ENST00000416848.2 - 2 961 c.473C>T c.(472-474)cCt>cTt p.P158L PUS7L_ENST00000551923.1_Missense_Mutation_p.P158L|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Missense_Mutation_p.P158L|PUS7L_ENST00000344862.5_Missense_Mutation_p.P158L NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 158 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) GAATTCAGGAGGTAGTCCAAT 0.368000 10 120 0 0 0.093190 0 0 FAM107A 11170 broad.mit.edu 37 3 58555543 58555543 + Silent SNP C C G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr3:58555543C>G ENST00000394481.1 - 3 603 c.45G>C c.(43-45)ctG>ctC p.L15L FAM107A_ENST00000360997.2_Silent_p.L15L|FAM107A_ENST00000447756.2_Silent_p.L43L|FAM107A_ENST00000464064.1_Silent_p.L15L|FAM107A_ENST00000474531.1_Silent_p.L46L NM_007177.2 NP_009108.1 O95990 F107A_HUMAN family with sequence similarity 107, member A 15 L -> M (in ovarian cancer and renal cell carcinoma cell lines). regulation of cell growth nucleus protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154) GCCGGGCCATCAGGCCCCCAA 0.597000 12 95 0 0 0.093190 0 0 CACNA1B 774 broad.mit.edu 37 9 141016410 141016410 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:141016410C>T ENST00000277549.5 + 47 7130 c.4561C>T c.(4561-4563)Cgg>Tgg p.R1521W CACNA1B_ENST00000371363.1_Missense_Mutation_p.R2325W|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R2327W|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R2328W|CACNA1B_ENST00000277551.2_3'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R2326W Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 2327 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TGGCCGAGCACGGCACAGCTA 0.637000 9 39 0 0 0.047766 0 0 SORCS2 57537 broad.mit.edu 37 4 7726911 7726911 + Missense_Mutation SNP T T C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr4:7726911T>C ENST00000507866.2 + 20 2751 c.2642T>C c.(2641-2643)gTt>gCt p.V881A SORCS2_ENST00000329016.9_Missense_Mutation_p.V709A NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 881 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 CTGGAGGTGGTTCCTGTCATT 0.577000 18 61 0 0 0.038395 0 0 DDX4 54514 broad.mit.edu 37 5 55082475 55082475 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr5:55082475G>A ENST00000505374.1 + 14 1086 c.994G>A c.(994-996)Gct>Act p.A332T DDX4_ENST00000511853.1_Missense_Mutation_p.A183T|DDX4_ENST00000354991.5_Missense_Mutation_p.A298T|DDX4_ENST00000514278.2_Missense_Mutation_p.A312T|DDX4_ENST00000353507.5_Missense_Mutation_p.A298T NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 332 Helicase ATP-binding. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) GATGGCTTGCGCTCAAACAGG 0.398000 8 136 0 0 0.069234 0 0 CD72 971 broad.mit.edu 37 9 35618375 35618375 + Translation_Start_Site SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:35618375G>A ENST00000396757.1 - 0 90 CD72_ENST00000259633.4_De_novo_Start_OutOfFrame|CD72_ENST00000378430.3_De_novo_Start_OutOfFrame|CD72_ENST00000490239.1_5'UTR P21854 CD72_HUMAN CD72 molecule axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity large_intestine(5)|liver(1)|lung(6) 12 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GTCTCTGTCCGTTTACAACTA 0.547000 5 21 0 0 0.014758 0 0 CASP8 841 broad.mit.edu 37 2 202149644 202149644 + Missense_Mutation SNP A A G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr2:202149644A>G ENST00000358485.4 + 8 1281 c.1085A>G c.(1084-1086)gAc>gGc p.D362G CASP8_ENST00000264274.9_Missense_Mutation_p.D219G|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000432109.2_Missense_Mutation_p.D303G|CASP8_ENST00000264275.5_Missense_Mutation_p.D320G|CASP8_ENST00000323492.7_Missense_Mutation_p.D288G NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 303 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 CAACTCATGGACCACAGTAAC 0.473000 HNSCC(4;0.00038) 30 136 0 0 0.116897 0 0 SCLT1 132320 broad.mit.edu 37 4 129873944 129873944 + Nonsense_Mutation SNP C C A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr4:129873944C>A ENST00000281142.5 - 14 1701 c.1198G>T c.(1198-1200)Gaa>Taa p.E400* SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 400 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 GCTGAAAGTTCTTCTGTTAAT 0.279000 8 90 0.000157383 0.000167047 0.038147 1 0 ZNF362 149076 broad.mit.edu 37 1 33745847 33745847 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr1:33745847G>A ENST00000539719.1 + 5 642 c.472G>A c.(472-474)Gcc>Acc p.A158T ZNF362_ENST00000373428.5_Missense_Mutation_p.A158T NM_152493.2 NP_689706.2 Q5T0B9 ZN362_HUMAN zinc finger protein 362 158 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(4)|lung(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCGCCTCATCGCCTCGTCCCC 0.682000 8 124 0 0 0.047766 0 0 FSIP1 161835 broad.mit.edu 37 15 40068654 40068654 + Missense_Mutation SNP G G T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr15:40068654G>T ENST00000350221.3 - 2 281 c.72C>A c.(70-72)agC>agA p.S24R RP11-37C7.1_ENST00000558616.1_RNA NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 24 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) TTGAACTTCTGCTCCCAGGGC 0.368000 10 146 4.68919e-08 5.11164e-08 0.069234 1 0 ANKRD12 23253 broad.mit.edu 37 18 9255584 9255584 + Missense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr18:9255584G>C ENST00000383440.2 + 8 2507 c.2250G>C c.(2248-2250)gaG>gaC p.E750D ANKRD12_ENST00000400020.3_Missense_Mutation_p.E750D|ANKRD12_ENST00000262126.3_Missense_Mutation_p.E773D NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 773 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 TAAAAGAAGAGAGAGAAAACA 0.348000 7 64 0 0 0.029380 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57867440 57867440 + Nonsense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr12:57867440G>C ENST00000393797.2 - 20 2432 c.2240C>G c.(2239-2241)tCa>tGa p.S747* ARHGAP9_ENST00000393791.3_Nonsense_Mutation_p.S657*|ARHGAP9_ENST00000424809.2_Intron|ARHGAP9_ENST00000430041.2_Nonsense_Mutation_p.S473*|ARHGAP9_ENST00000356411.2_Nonsense_Mutation_p.S676*|ARHGAP9_ENST00000550288.1_Silent_p.L730L Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 676 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) CTTTGGCATTGAGCCTATTAA 0.488000 10 92 0 0 0.069234 0 0 DDX10 1662 broad.mit.edu 37 11 108546344 108546344 + Missense_Mutation SNP G G A rs145766863 byFrequency TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr11:108546344G>A ENST00000526794.1 + 3 301 c.269G>A c.(268-270)cGt>cAt p.R90H DDX10_ENST00000322536.3_Missense_Mutation_p.R90H Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 90 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) GCTCAGTACCGTTTGGTGACT 0.458000 T NUP98 AML* 8 92 0 0 0.047766 0 0 MYO3A 53904 broad.mit.edu 37 10 26463239 26463239 + Missense_Mutation SNP C C A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr10:26463239C>A ENST00000265944.5 + 30 4212 c.4046C>A c.(4045-4047)gCa>gAa p.A1349E MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1349 IQ 3. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GAAGATAAAGCAGCGGTATTC 0.488000 11 89 0.00829132 0.00850211 0.069234 1 0 CTCF 10664 broad.mit.edu 37 16 67650717 67650717 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr16:67650717G>A ENST00000264010.4 + 5 1466 c.1022G>A c.(1021-1023)cGt>cAt p.R341H CTCF_ENST00000401394.1_Missense_Mutation_p.R13H NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 341 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) GTTCGGCATCGTCGTTACAAA 0.488000 26 276 0 0 0.108266 0 0 FAT1 2195 broad.mit.edu 37 4 187541184 187541184 + Missense_Mutation SNP A A C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr4:187541184A>C ENST00000441802.2 - 10 6765 c.6556T>G c.(6556-6558)Ttc>Gtc p.F2186V NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2186 Cadherin 20. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GCACTGTAGAAAGGTTTTTCA 0.507000 HNSCC(5;0.00058) 6 75 0 0 0.021553 0 0 HNRNPM 4670 broad.mit.edu 37 19 8551952 8551952 + Silent SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr19:8551952C>T ENST00000348943.3 + 16 2137 c.1905C>T c.(1903-1905)aaC>aaT p.N635N HNRNPM_ENST00000325495.4_Silent_p.N674N NM_031203.3 NP_112480.2 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 674 alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 ACAAATTCAACGAGTGCGGTA 0.517000 18 142 0 0 0.038395 0 0 STAT5B 6777 broad.mit.edu 37 17 40359614 40359614 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr17:40359614G>A ENST00000293328.3 - 16 2207 c.2039C>T c.(2038-2040)tCc>tTc p.S680F NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 680 SH2. 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) GTAGTATTTGGAGTATACTTC 0.463000 18 145 0 0 0.043863 0 0 DBT 1629 broad.mit.edu 37 1 100672165 100672165 + Missense_Mutation SNP C C G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr1:100672165C>G ENST00000370132.3 - 9 1058 c.1045G>C c.(1045-1047)Gat>Cat p.D349H NM_001918.3 NP_001909.3 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase E2 349 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1) 19 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) TGCTCAGTATCCATTGCTATC 0.388000 33 252 0 0 0.080422 0 0 SCLT1 132320 broad.mit.edu 37 4 129864211 129864211 + Silent SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr4:129864211C>T ENST00000281142.5 - 17 2075 c.1572G>A c.(1570-1572)cgG>cgA p.R524R SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 524 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 CAGTCTCTTTCCGTAACTGTT 0.363000 8 92 0 0 0.047766 0 0 CACNA1E 777 broad.mit.edu 37 1 181702070 181702070 + Nonsense_Mutation SNP G G T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr1:181702070G>T ENST00000526775.1 + 19 2956 c.2791G>T c.(2791-2793)Gaa>Taa p.E931* CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.E950*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.E931*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.E557*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.E882*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.E950*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.E901* NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 950 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CAGTCTGGATGAAGCCATGCC 0.612000 12 99 1.61879e-10 1.78067e-10 0.093190 1 0 IQUB 154865 broad.mit.edu 37 7 123142651 123142651 + Splice_Site SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr7:123142651C>T ENST00000466202.1 - 6 1599 c.1023_splice c.e6+1 p.A341_splice IQUB_ENST00000434450.1_Splice_Site_p.A341_splice|IQUB_ENST00000324698.6_Splice_Site_p.A341_splice|IQUB_ENST00000488987.1_5'UTR Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 341 IQ. breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 GTTATCTCACCGCCTTTAGTC 0.358000 6 71 0 0 0.038147 0 0 MFN1 55669 broad.mit.edu 37 3 179076745 179076745 + Missense_Mutation SNP A A C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr3:179076745A>C ENST00000471841.1 + 4 492 c.366A>C c.(364-366)aaA>aaC p.K122N MFN1_ENST00000280653.7_Missense_Mutation_p.K122N|MFN1_ENST00000263969.5_Missense_Mutation_p.K122N NM_033540.2 NP_284941.2 Q8IWA4 MFN1_HUMAN mitofusin 1 122 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) ATGGAGATAAAGCCTATCTTA 0.373000 10 79 0 0 0.069234 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43984289 43984289 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr2:43984289C>T ENST00000282406.4 + 26 3937 c.3827C>T c.(3826-3828)tCa>tTa p.S1276L NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 1276 FERM. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AGACCTTTCTCAACTCCAGCA 0.333000 6 84 0 0 0.021553 0 0 TRIM71 131405 broad.mit.edu 37 3 32933083 32933083 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr3:32933083G>A ENST00000383763.4 + 4 2450 c.2387G>A c.(2386-2388)cGc>cAc p.R796H NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 796 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CAGTTCCTGCGCCCACAAGGG 0.592000 9 74 0 0 0.047766 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67318871 67318871 + Missense_Mutation SNP C C A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr16:67318871C>A ENST00000360461.5 + 12 4483 c.1948C>A c.(1948-1950)Cca>Aca p.P650T PLEKHG4_ENST00000427155.2_Missense_Mutation_p.P650T|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.P650T|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.P569T NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 650 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) ACTGAAGCTACCACCGGTGGG 0.667000 6 28 0.00198382 0.00206933 0.029380 1 0 ZNF407 55628 broad.mit.edu 37 18 72344099 72344099 + Missense_Mutation SNP C C A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr18:72344099C>A ENST00000299687.5 + 1 1124 c.1124C>A c.(1123-1125)cCt>cAt p.P375H ZNF407_ENST00000582337.1_Missense_Mutation_p.P375H|ZNF407_ENST00000309902.6_Missense_Mutation_p.P375H|ZNF407_ENST00000577538.1_Missense_Mutation_p.P375H NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 375 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GCTCAGAATCCTGAAAACCAG 0.413000 6 82 0.000157383 0.000167047 0.038147 1 0 GPR116 221395 broad.mit.edu 37 6 46847692 46847692 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr6:46847692G>A ENST00000283296.7 - 9 1187 c.899C>T c.(898-900)tCc>tTc p.S300F GPR116_ENST00000265417.7_Missense_Mutation_p.S300F|GPR116_ENST00000362015.4_Missense_Mutation_p.S300F|GPR116_ENST00000456426.2_Intron NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 300 Ig-like 1. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) AGACACATTGGAGGACAAAAC 0.438000 9 80 0 0 0.058154 0 0 ATP9A 10079 broad.mit.edu 37 20 50255990 50255990 + Missense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr20:50255990G>C ENST00000338821.5 - 15 1824 c.1560C>G c.(1558-1560)gaC>gaG p.D520E ATP9A_ENST00000402822.1_Missense_Mutation_p.D399E|ATP9A_ENST00000311637.5_Missense_Mutation_p.D384E NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 520 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TGGAAGACTGGTCTCGGCCCA 0.542000 OREG0026043 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 89 0 0 0.029380 0 0 MOV10L1 54456 broad.mit.edu 37 22 50580618 50580618 + Splice_Site SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr22:50580618G>A ENST00000262794.5 + 16 2262 c.2179_splice c.e16+1 p.V727_splice MOV10L1_ENST00000540615.1_Splice_Site_p.V707_splice|MOV10L1_ENST00000545383.1_Splice_Site_p.V727_splice|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Splice_Site_p.V727_splice NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 727 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GAGCGATTGGGGTATGTGCTC 0.547000 OREG0026672 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 36 0 0 0.038147 0 0 PSMB4 5692 broad.mit.edu 37 1 151373293 151373293 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr1:151373293C>T ENST00000290541.6 + 4 602 c.548C>T c.(547-549)gCc>gTc p.A183V NM_002796.2 NP_002787.2 P28070 PSB4_HUMAN proteasome (prosome, macropain) subunit, beta type, 4 183 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCTTCGCTGGCCACTGGTTAT 0.463000 35 302 0 0 0.086207 0 0 IGLV3-19 28797 broad.mit.edu 37 22 23063594 23063594 + RNA SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr22:23063594G>A ENST00000390309.2 + 0 341 GGCGGAAGATGAGGCTGACTA 0.527000 9 32 0 0 0.058154 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99117510 99117510 + Nonsense_Mutation SNP C C A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr7:99117510C>A ENST00000394170.2 + 4 865 c.614C>A c.(613-615)tCa>tAa p.S205* ZKSCAN5_ENST00000451158.1_Nonsense_Mutation_p.S205*|ZKSCAN5_ENST00000326775.5_Nonsense_Mutation_p.S205* NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 205 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) CTGACAGCTTCACTTCTCTCA 0.517000 11 69 2.27111e-07 2.45361e-07 0.093190 1 0 SKOR1 390598 broad.mit.edu 37 15 68118861 68118861 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr15:68118861C>T ENST00000380035.2 + 2 753 c.695C>T c.(694-696)gCc>gTc p.A232V SKOR1_ENST00000389002.1_Missense_Mutation_p.A223V|SKOR1_ENST00000341418.5_Missense_Mutation_p.A418V|SKOR1_ENST00000554054.1_Missense_Mutation_p.A204V|SKOR1_ENST00000554240.1_Missense_Mutation_p.A193V P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 232 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 ACACCCGACGCCAAGTACACG 0.567000 7 57 0 0 0.038147 0 0 SEC23IP 11196 broad.mit.edu 37 10 121685734 121685734 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr10:121685734G>A ENST00000369075.3 + 13 2380 c.2308G>A c.(2308-2310)Gga>Aga p.G770R SEC23IP_ENST00000543134.1_Missense_Mutation_p.G559R NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 770 Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding p.G770R(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) AGTTGGCGCCGGACAGGTGAG 0.393000 19 137 0 0 0.049695 0 0 CD1E 913 broad.mit.edu 37 1 158325848 158325848 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr1:158325848G>A ENST00000444681.2 + 3 853 c.560G>A c.(559-561)cGg>cAg p.R187Q CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.R196Q|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.R286Q|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.R97Q|CD1E_ENST00000368165.3_Missense_Mutation_p.R196Q|CD1E_ENST00000368160.3_Missense_Mutation_p.R286Q|CD1E_ENST00000368166.3_Missense_Mutation_p.R97Q|CD1E_ENST00000434258.1_Missense_Mutation_p.R284Q NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 286 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CTGTCCTGTCGGGTGAAACAC 0.572000 15 97 0 0 0.146539 0 0 FOCAD 54914 broad.mit.edu 37 9 20789459 20789459 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:20789459C>T ENST00000380249.1 + 13 1671 c.1307C>T c.(1306-1308)gCt>gTt p.A436V FOCAD_ENST00000338382.6_Missense_Mutation_p.A436V NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 436 integral to membrane binding GACTGGTTGGCTTCAGTAGAG 0.463000 11 84 0 0 0.069234 0 0 MROH2B 133558 broad.mit.edu 37 5 41008749 41008749 + Silent SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr5:41008749C>T ENST00000399564.4 - 33 4017 c.3567G>A c.(3565-3567)gtG>gtA p.V1189V MROH2B_ENST00000506092.2_Silent_p.V744V NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CCTGCTGCATCACATGCCGCC 0.567000 5 39 0 0 0.021553 0 0 SEMA3E 9723 broad.mit.edu 37 7 83014672 83014672 + Nonsense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr7:83014672G>A ENST00000307792.3 - 16 2280 c.1813C>T c.(1813-1815)Cga>Tga p.R605* SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.R545* NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 605 Ig-like C2-type. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TGTAAAGATCGTGGGGTACAT 0.398000 20 132 0 0 0.049695 0 0 PRUNE2 158471 broad.mit.edu 37 9 79465512 79465512 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:79465512C>T ENST00000376718.3 - 3 334 c.211G>A c.(211-213)Gag>Aag p.E71K PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Missense_Mutation_p.E71K NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 71 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AACCTCGTCTCGGTGAAGTAG 0.393000 16 151 0 0 0.038395 0 0 TRAPPC6A 79090 broad.mit.edu 37 19 45681407 45681407 + Missense_Mutation SNP C C G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr19:45681407C>G ENST00000006275.4 - 1 88 c.70G>C c.(70-72)Gac>Cac p.D24H TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.D24H|TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.D24H|TRAPPC6A_ENST00000585934.1_Missense_Mutation_p.D24H NM_024108.1 NP_077013.1 O75865 TPC6A_HUMAN trafficking protein particle complex 6A 24 vesicle-mediated transport endoplasmic reticulum|Golgi apparatus guanylate cyclase activity|heme binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 8 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233) GGGCCGGGGTCGGGGTCGTGA 0.682000 5 43 0 0 0.014758 0 0 EZH1 2145 broad.mit.edu 37 17 40854917 40854917 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr17:40854917C>T ENST00000428826.2 - 20 2282 c.2161G>A c.(2161-2163)Gaa>Aaa p.E721K EZH1_ENST00000585893.1_Missense_Mutation_p.E681K|EZH1_ENST00000592743.1_Missense_Mutation_p.E721K|EZH1_ENST00000590078.1_Missense_Mutation_p.E651K|EZH1_ENST00000435174.1_Missense_Mutation_p.E582K|EZH1_ENST00000415827.2_Missense_Mutation_p.E712K Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 721 SET. VVMVNGDHRIGIFAKRAIQAGEELFFDYRYSQADALKYVGI ERETDVL -> GESQ (in Ref. 2; BAA25019). anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding p.E721K(1) breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) AAGAGCTCTTCGCCAGCTTGA 0.512000 20 196 0 0 0.069288 0 0 NLRP5 126206 broad.mit.edu 37 19 56539838 56539838 + Missense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr19:56539838G>C ENST00000390649.3 + 7 2239 c.2239G>C c.(2239-2241)Gat>Cat p.D747H NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 747 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTTCCCAAGAGATGAGTCCGC 0.517000 20 209 0 0 0.055883 0 0 MYH4 4622 broad.mit.edu 37 17 10354168 10354168 + Nonsense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr17:10354168G>A ENST00000255381.2 - 29 4020 c.3910C>T c.(3910-3912)Cag>Tag p.Q1304* CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1304 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CGGGATAGCTGAGAAACCATA 0.383000 20 110 0 0 0.062417 0 0 HK3 3101 broad.mit.edu 37 5 176314244 176314244 + Missense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr5:176314244G>C ENST00000292432.5 - 12 1786 c.1695C>G c.(1693-1695)atC>atG p.I565M NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 565 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAATGGAGTAGATCTCGCTGG 0.622000 11 55 0 0 0.069234 0 0 DSEL 92126 broad.mit.edu 37 18 65178325 65178325 + Missense_Mutation SNP A A G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr18:65178325A>G ENST00000310045.7 - 2 5024 c.3551T>C c.(3550-3552)aTa>aCa p.I1184T CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 1174 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) AGTTGGTGATATTTCCCCTTC 0.363000 10 66 0 0 0.058154 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43650731 43650731 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr10:43650731C>T ENST00000374466.3 + 2 469 c.134C>T c.(133-135)cCt>cTt p.P45L CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.P45L NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 45 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GCATCTCTTCCTGGTGTTGTT 0.463000 8 64 0 0 0.047766 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62648571 62648571 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr10:62648571G>A ENST00000337910.5 - 6 1192 c.855C>T c.(853-855)ctC>ctT p.L285L RHOBTB1_ENST00000357917.4_Silent_p.L285L NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 285 BTB 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) AAGAGGTAGCGAGGTAAATTC 0.438000 13 92 0 0 0.105934 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37187969 37187969 + RNA SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr17:37187969C>T ENST00000425901.2 + 0 1811 NR_033753.2 TCCAGAGCTACGTAAGGAGGT 0.493000 6 34 0 0 0.021553 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57867414 57867414 + Missense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr12:57867414G>C ENST00000393797.2 - 20 2458 c.2266C>G c.(2266-2268)Cta>Gta p.L756V ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L666V|ARHGAP9_ENST00000424809.2_Intron|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.L482V|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.L685V|ARHGAP9_ENST00000550288.1_3'UTR Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 685 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) AGGTACCGTAGAGTGTCATGG 0.507000 12 109 0 0 0.093190 0 0 CMYA5 202333 broad.mit.edu 37 5 79030604 79030604 + Missense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr5:79030604G>C ENST00000446378.2 + 2 6047 c.6016G>C c.(6016-6018)Gag>Cag p.E2006Q NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2006 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AAACATAGCAGAGGGGAAGGA 0.408000 5 45 0 0 0.014758 0 0 TMOD1 7111 broad.mit.edu 37 9 100331220 100331220 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:100331220G>A ENST00000395211.2 + 8 907 c.771G>A c.(769-771)ctG>ctA p.L257L TMOD1_ENST00000259365.3_Silent_p.L257L|TMOD1_ENST00000375175.1_Silent_p.L130L NM_001166116.1 NP_001159588.1 P28289 TMOD1_HUMAN tropomodulin 1 257 muscle filament sliding cytosol actin binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1) 11 Acute lymphoblastic leukemia(62;0.154) STAD - Stomach adenocarcinoma(157;0.105) TGAAGACACTGAATGTGGAAT 0.498000 15 102 0 0 0.119110 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140799485 140799485 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr5:140799485G>A ENST00000398594.2 + 1 2059 c.2059G>A c.(2059-2061)Gag>Aag p.E687K PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCCAGGCTGAGATGCAGTT 0.552000 8 72 0 0 0.038147 0 0 HRAS 3265 broad.mit.edu 37 11 534289 534289 + Missense_Mutation SNP C C T rs104894229 TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr11:534289C>T ENST00000417302.1 - 2 221 c.34G>A c.(34-36)Ggc>Agc p.G12S HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 12 G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G12S(58)|p.G12C(25)|p.G12R(12) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CCCACACCGCCGGCGCCCACC 0.647000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 56 46 0 0 0.139131 0 0 SLX4IP 128710 broad.mit.edu 37 20 10604013 10604013 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr20:10604013G>A ENST00000334534.5 + 8 1393 c.1213G>A c.(1213-1215)Gaa>Aaa p.E405K NM_001009608.1 NP_001009608.1 SLX4 interacting protein p.E405*(1) AAAGAAATACGAAAGAGGCCA 0.448000 6 63 0 0 0.021553 0 0 RHBDL1 9028 broad.mit.edu 37 16 727018 727018 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr16:727018G>A ENST00000219551.2 + 3 696 c.669G>A c.(667-669)ctG>ctA p.L223L RHBDL1_ENST00000352681.3_Silent_p.L158L O75783 RHBL1_HUMAN rhomboid, veinlet-like 1 (Drosophila) 223 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|lung(4)|urinary_tract(3) 9 Hepatocellular(780;0.0218) AGTGGGTGCTGCAGACCTACC 0.637000 8 63 0 0 0.038147 0 0 CCDC28A 25901 broad.mit.edu 37 6 139101031 139101031 + Silent SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr6:139101031C>T ENST00000332797.6 + 3 656 c.501C>T c.(499-501)tcC>tcT p.S167S NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 167 autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TCCAGCACTCCTTCCTCACTG 0.453000 10 82 0 0 0.080935 0 0 FAM3D 131177 broad.mit.edu 37 3 58639409 58639409 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr3:58639409C>T ENST00000358781.2 - 3 423 c.113G>A c.(112-114)cGc>cAc p.R38H NM_138805.2 NP_620160.1 Q96BQ1 FAM3D_HUMAN family with sequence similarity 3, member D 38 negative regulation of insulin secretion extracellular region cytokine activity large_intestine(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169) ACCCAGCCAGCGTGGCAGACG 0.577000 13 148 0 0 0.033300 0 0 C1orf101 257044 broad.mit.edu 37 1 244735832 244735832 + Missense_Mutation SNP C C G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr1:244735832C>G ENST00000366534.4 + 11 1762 c.1708C>G c.(1708-1710)Ctg>Gtg p.L570V C1orf101_ENST00000366533.4_Missense_Mutation_p.L570V|C1orf101_ENST00000366531.3_Missense_Mutation_p.L419V|C1orf101_ENST00000473875.1_3'UTR NM_001130957.1 NP_001124429.1 Q5SY80 CA101_HUMAN chromosome 1 open reading frame 101 570 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 36 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) TCCCTTACATCTGGAAGCACA 0.363000 8 70 0 0 0.038147 0 0 CENPP 401541 broad.mit.edu 37 9 95094556 95094556 + Missense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:95094556G>C ENST00000375587.3 + 2 727 c.212G>C c.(211-213)aGt>aCt p.S71T NM_001012267.1 NP_001012267.1 Q6IPU0 CENPP_HUMAN centromere protein P 71 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1) 16 TCATTTCTAAGTACGCTTACT 0.348000 4 31 0 0 0.009096 0 0 CHD2 1106 broad.mit.edu 37 15 93518123 93518123 + Silent SNP C C A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr15:93518123C>A ENST00000394196.4 + 20 3588 c.2520C>A c.(2518-2520)tcC>tcA p.S840S CHD2_ENST00000557381.1_Silent_p.S840S NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 840 Helicase C-terminal. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TGGATGGTTCCATCAAGGGAG 0.433000 11 62 0.000308642 0.000324745 0.132662 1 0 GNS 2799 broad.mit.edu 37 12 65130831 65130831 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr12:65130831G>A ENST00000258145.3 - 9 1221 c.1051C>T c.(1051-1053)Cca>Tca p.P351S GNS_ENST00000543646.1_Missense_Mutation_p.P383S|GNS_ENST00000418919.2_Missense_Mutation_p.P295S|GNS_ENST00000542058.1_Missense_Mutation_p.P331S NM_002076.3 NP_002067.1 P15586 GNS_HUMAN glucosamine (N-acetyl)-6-sulfatase 351 lysosome metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4) 15 Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12) LUAD - Lung adenocarcinoma(6;0.115) GBM - Glioblastoma multiforme(28;0.0435) ACCAACAGTGGAACTTTGATA 0.458000 5 73 0 0 0.014758 0 0 DDB1 1642 broad.mit.edu 37 11 61089130 61089130 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr11:61089130G>A ENST00000301764.7 - 10 1559 c.1162C>T c.(1162-1164)Cgg>Tgg p.R388W DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 388 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 CGGATGATCCGCAAAGAACCT 0.473000 Nucleotide excision repair (NER) 19 235 0 0 0.055883 0 0 ZNF827 152485 broad.mit.edu 37 4 146767142 146767142 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr4:146767142G>A ENST00000508784.1 - 7 2472 c.2245C>T c.(2245-2247)Cat>Tat p.H749Y ZNF827_ENST00000379448.4_Missense_Mutation_p.H749Y|ZNF827_ENST00000513320.1_Missense_Mutation_p.H399Y Q17R98 ZN827_HUMAN zinc finger protein 827 749 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) TCTTTTGTATGATTGTGCTCT 0.463000 4 48 0 0 0.009096 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 38 0 0 0.009096 0 0 ATP11A 23250 broad.mit.edu 37 13 113508638 113508638 + Silent SNP C C T rs144429120 TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr13:113508638C>T ENST00000487903.1 + 19 2125 c.2037C>T c.(2035-2037)gcC>gcT p.A679A ATP11A_ENST00000375645.3_Silent_p.A679A|ATP11A_ENST00000283558.8_Silent_p.A679A|ATP11A_ENST00000375630.2_Silent_p.A679A P98196 AT11A_HUMAN ATPase, class VI, type 11A 679 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) TGCAGAAGGCCGGGATCAAAG 0.592000 5 57 0 0 0.014758 0 0 RYR2 6262 broad.mit.edu 37 1 237961367 237961367 + Nonsense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr1:237961367C>T ENST00000366574.2 + 97 14304 c.13987C>T c.(13987-13989)Cga>Tga p.R4663* RYR2_ENST00000542537.1_Nonsense_Mutation_p.R4647*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.R4669* NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4663 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTTCTACGGCCGAGACAGAAT 0.408000 3 17 0 0 0.115264 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52715983 52715983 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr19:52715983G>A ENST00000322088.6 + 5 606 c.548G>A c.(547-549)cGg>cAg p.R183Q PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128Q|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4Q NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 183 PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity p.R183Q(10) NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) ATGGTGCGGCGGGCCGCAGCC 0.617000 Mis clear cell ovarian carcinoma 15 66 0 0 0.119110 0 0 GALNT12 79695 broad.mit.edu 37 9 101585618 101585618 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:101585618C>T ENST00000375011.3 + 2 452 c.452C>T c.(451-453)aCt>aTt p.T151I NM_024642.4 NP_078918.3 Q8IXK2 GLT12_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) 151 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(62;0.0559) GCCTGGTCAACTCTCCTTCGG 0.428000 5 84 0 0 0.014758 0 0 DDB1 1642 broad.mit.edu 37 11 61090509 61090509 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr11:61090509G>A ENST00000301764.7 - 8 1376 c.979C>T c.(979-981)Cgc>Tgc p.R327C DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 327 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 TCACCCAGGCGAGACCCGACA 0.438000 Nucleotide excision repair (NER) 3 31 0 0 0.115264 0 0 SMAD4 4089 broad.mit.edu 37 18 48573554 48573554 + Silent SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr18:48573554G>A ENST00000342988.3 + 2 676 c.138G>A c.(136-138)aaG>aaA p.K46K SMAD4_ENST00000588745.1_Silent_p.K46K|SMAD4_ENST00000398417.2_Silent_p.K46K|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Silent_p.K46K NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 46 MH1. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(5) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TGGTAAAGAAGCTGAAGGAGA 0.368000 7 86 0 0 0.038147 0 0 SEC23B 10483 broad.mit.edu 37 20 18491571 18491571 + Missense_Mutation SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr20:18491571C>T ENST00000336714.3 + 2 524 c.92C>T c.(91-93)gCt>gTt p.A31V SEC23B_ENST00000377465.1_Missense_Mutation_p.A31V|SEC23B_ENST00000262544.2_Missense_Mutation_p.A31V|SEC23B_ENST00000377475.3_Missense_Mutation_p.A31V NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 31 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 CGGCTGGAGGCTACAAGAATG 0.502000 8 103 0 0 0.038147 0 0 ZNF594 84622 broad.mit.edu 37 17 5085805 5085805 + Missense_Mutation SNP G G C TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr17:5085805G>C ENST00000399604.4 - 1 1887 c.1747C>G c.(1747-1749)Ctc>Gtc p.L583V ZNF594_ENST00000575779.1_Missense_Mutation_p.L583V Q96JF6 ZN594_HUMAN zinc finger protein 594 583 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TGTCTGATGAGGTCTGAGCTG 0.458000 17 198 0 0 0.043863 0 0 OTOP2 92736 broad.mit.edu 37 17 72926892 72926892 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr17:72926892G>A ENST00000331427.4 + 6 1254 c.1162G>A c.(1162-1164)Gtg>Atg p.V388M OTOP2_ENST00000580223.1_Missense_Mutation_p.V388M NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 388 integral to membrane p.V388L(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) CTACTCCATCGTGGCTGTGGT 0.617000 6 63 0 0 0.021553 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33624346 33624346 + Silent SNP C C T TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr5:33624346C>T ENST00000504830.1 - 14 2468 c.2133G>A c.(2131-2133)aaG>aaA p.K711K ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 711 Spacer 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CAGATCCTTCCTTCTGCTTAA 0.453000 HNSCC(64;0.19) 6 104 0 0 0.029380 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 30 0 0 0.115264 0 0 ZNF302 55900 broad.mit.edu 37 19 35173684 35173684 + Silent SNP G G A rs149807567 by1000genomes TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr19:35173684G>A ENST00000505365.2 + 3 348 c.12G>A c.(10-12)gtG>gtA p.V4V ZNF302_ENST00000505242.1_Silent_p.V4V|ZNF302_ENST00000509528.1_Intron|ZNF302_ENST00000507959.1_Silent_p.V4V|ZNF302_ENST00000457781.2_Silent_p.V4V|ZNF302_ENST00000446502.2_Silent_p.V48V|ZNF302_ENST00000423823.2_Silent_p.V4V Q9NR11 ZN302_HUMAN zinc finger protein 302 4 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TATTTCAGGTGACATTTAGTG 0.433000 7 64 0 0 0.029380 0 0 PTPRN2 5799 broad.mit.edu 37 7 158380276 158380277 + Frame_Shift_Ins INS - - G TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr7:158380276_158380277insG ENST00000389413.3 - 1 188_189 c.85_86insC c.(85-87)cggfs p.R29fs PTPRN2_ENST00000409483.1_Frame_Shift_Ins_p.R29fs|PTPRN2_ENST00000389416.4_Frame_Shift_Ins_p.R29fs|PTPRN2_ENST00000389418.4_Frame_Shift_Ins_p.R29fs NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 29 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CTGCCGGCCGCGGGGGACGGAC 0.757 2 4 --- --- --- --- SURF2 6835 broad.mit.edu 37 9 136226880 136226882 + In_Frame_Del DEL GGA GGA - rs149969130 TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr9:136226880_136226882delGGA ENST00000371964.4 + 4 433_435 c.392_394delGGA c.(391-396)cgg>c p.RR133del SURF2_ENST00000495524.1_3'UTR NM_017503.3 NP_059973.3 Q15527 SURF2_HUMAN surfeit 2 133 protein binding breast(1)|large_intestine(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05) CTGGTGCACCGGAGGAGGAGGAG 0.635 7 35 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25299375 25299376 + RNA INS - - A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr15:25299375_25299376insA ENST00000549804.2 + 0 98 SNHG14_ENST00000547292.1_RNA|SNORD116-2_ENST00000384274.1_RNA GATGAGTCCCCAAAAAAAACAT 0.495 9 210 --- --- --- --- LOC146880 146880 broad.mit.edu 37 17 62750914 62750914 + RNA DEL T T - TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chr17:62750914delT ENST00000400873.3 - 0 1841 NR_026899.1 CTGATTATGCttttttttttg 0.433 3 4 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47030561 47030563 + In_Frame_Del DEL GGA GGA - TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdde6828-b9f4-4648-a86b-157c5d46abb2 51cea5c6-365a-4c91-90c1-05a2619bfdf4 g.chrX:47030561_47030563delGGA ENST00000377604.3 + 4 1078_1080 c.336_338delGGA c.(334-339)ggg>gg p.GE112del RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 112 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 CCGAGCAAGGggaggaggaggag 0.660 4 9 --- --- --- ---